chr10 18429624 C A 184 A:35 C:16 C->A CACNB2 novel Non Coding chr10 73573082 T C 27 C:3 T:4 T->C CDH23 novel CDS [9729-9730 3243-3244] subst_NONSYNONYMOUS[TCC:S cCC:P U] chr10 78709061 C T 255 T:163 C:164 C->T KCNMA1 novel CDS [2469-2470 823-824] subst_NONSYNONYMOUS[GTC:V aTC:I c] chr10 79397459 A C 14 0 0 A->C KCNMA1 novel Non Coding chr10 79397521 A C 4 0 0 A->C KCNMA1 novel Non Coding chr10 79397525 C G 4 0 0 C->G KCNMA1 novel Non Coding chr10 79397536 C T 0 0 0 C->T KCNMA1 novel Non Coding chr10 87359674 T A 110 A:33 T:57 T->A GRID1 novel Non Coding chr10 87359697 A C 67 C:27 A:85 A->C GRID1 novel Non Coding chr10 102587603 G C 0 0 0 G->C PAX2 novel Non Coding chr10 102587610 G C 0 0 0 G->C PAX2 novel Non Coding chr10 102587618 T C 0 0 0 T->C PAX2 novel Non Coding chr10 102587619 G C 0 0 0 G->C PAX2 novel Non Coding chr10 124895608 A C 10 0 0 A->C HMX3 novel CDS [41-42 13-14] subst_synonymous[GCA:A GCc:A c] chr10 124895626 G C 4 0 0 G->C HMX3 novel CDS [59-60 19-20] subst_synonymous[CCG:P CCc:P c] chr10 124895705 A C 10 0 0 A->C HMX3 novel CDS [138-139 46-47] subst_NONSYNONYMOUS[AAG:K cAG:Q c] chr11 8040784 T C 4 0 0 T->C novel Coding chr11 8040878 T C 0 0 0 T->C novel Coding chr11 8111210 T G 3 G:17 T:92 T->G TUB novel Non Coding chr11 8124460 T C 163 C:15 T:51 T->C TUB novel Non Coding chr11 20117210 A G 255 G:273 A:336 A->G NAV2 novel Non Coding chr11 20142118 A C 118 C:69 A:538 A->C NAV2 novel Non Coding chr11 27721952 T G 4 0 0 T->G BDNF novel Non Coding chr11 27721953 G C 4 0 0 G->C BDNF novel Non Coding chr11 27721984 A C 11 0 0 A->C BDNF novel Non Coding chr11 27722208 G C 4 0 0 G->C BDNF novel Non Coding chr11 27722221 A C 4 0 0 A->C BDNF novel Non Coding chr11 27722229 C G 4 0 0 C->G BDNF novel Non Coding chr11 27741296 A G 12 0 0 A->G BDNF novel Non Coding chr11 66300291 T C 255 C:55 T:73 T->C DPP3 novel Non Coding chr11 69633526 T G 4 0 0 T->G FGF3 novel CDS [175-176 58-59] subst_NONSYNONYMOUS[CAC:H CcC:P c] chr11 69633529 A G 4 0 0 A->G FGF3 novel CDS [172-173 57-58] subst_NONSYNONYMOUS[CTG:L CcG:P U] chr11 69633535 A G 4 0 0 A->G FGF3 novel CDS [166-167 55-56] subst_NONSYNONYMOUS[CTC:L CcC:P U] chr11 69633538 T G 4 0 0 T->G FGF3 novel CDS [163-164 54-55] subst_NONSYNONYMOUS[CAC:H CcC:P c] chr11 69633541 T G 4 0 0 T->G FGF3 novel CDS [160-161 53-54] subst_NONSYNONYMOUS[TAC:Y TcC:S U] chr11 69633544 T G 4 0 0 T->G FGF3 novel CDS [157-158 52-53] subst_NONSYNONYMOUS[AAG:K AcG:T U] chr11 69634061 A C 4 0 0 A->C FGF3 novel Non Coding chr11 69634066 C G 4 0 0 C->G FGF3 novel Non Coding chr11 69634068 C G 4 0 0 C->G FGF3 novel Non Coding chr11 69634075 C G 4 0 0 C->G FGF3 novel Non Coding chr11 76871992 T G 2 G:5 T:24 T->G MYO7A novel Non Coding chr11 76892528 C T 255 T:157 C:156 C->T MYO7A novel CDS [2796-2797 932-933] subst_NONSYNONYMOUS[CGC:R tGC:C U] chr11 76901051 T G 4 0 0 T->G MYO7A novel Non Coding chr11 76901056 T C 4 0 0 T->C MYO7A novel Non Coding chr11 76901060 T C 4 0 0 T->C MYO7A novel Non Coding chr11 76901065 T G 4 0 0 T->G MYO7A novel CDS [3630-3631 1210-1211] subst_NONSYNONYMOUS[TAC:Y gAC:D U] chr11 76901067 C A 4 0 0 C->A MYO7A novel CDS [3632-3633 1210-1211] subst_NONSYNONYMOUS[TAC:Y TAa:* U] chr11 76901069 T C 4 0 0 T->C MYO7A novel CDS [3634-3635 1211-1212] subst_NONSYNONYMOUS[CTG:L CcG:P U] chr12 48381394 G A 255 A:35 G:34 G->A COL2A1 novel CDS [1220-1221 406-407] subst_synonymous[TCC:S TCt:S c] chr12 53613774 T A 0 0 0 T->A RARG novel CDS [110-111 36-37] subst_synonymous[GGA:G GGt:G c] chr12 53613777 G C 0 0 0 G->C RARG novel CDS [107-108 35-36] subst_synonymous[GCC:A GCg:A c] chr12 53621294 A C 5 C:2 A:17 A->C RARG novel CDS [35-36 11-12] subst_synonymous[GGT:G GGg:G c] chr12 53626034 C G 15 G:4 C:2 C->G RARG novel Non Coding chr12 57432751 G A 255 A:93 G:142 G->A MYO1A novel CDS [1374-1375 458-459] subst_NONSYNONYMOUS[CGG:R tGG:W c] chr12 96368046 C G 255 G:417 C:396 C->G HAL novel CDS [1937-1938 645-646] subst_NONSYNONYMOUS[AAG:K AAc:N c] chr13 20806496 A C 10 0 0 A->C GJB6 novel Non Coding chr13 21165145 A G 255 G:272 A:279 A->G IFT88 novel CDS [249-250 83-84] subst_NONSYNONYMOUS[ACA:T gCA:A c] chr13 80911729 C G 255 G:97 C:113 C->G SPRY2 novel CDS [111-112 37-38] subst_NONSYNONYMOUS[GTA:V cTA:L c] chr14 31364272 A G 51 G:6 A:23 A->G COCH novel Non Coding chr14 64727371 C T 255 T:38 C:37 C->T ESR2 novel CDS [747-748 249-250] subst_NONSYNONYMOUS[GGC:G aGC:S c] chr14 81609723 A C 168 C:148 A:453 A->C TSHR novel CDS [261-262 87-88] subst_NONSYNONYMOUS[ACC:T cCC:P c] chr14 103988211 A C 1 0 0 A->C CKB novel CDS [424-425 141-142] subst_NONSYNONYMOUS[CTC:L CgC:R U] chr14 103988244 A C 2 0 0 A->C CKB novel CDS [391-392 130-131] subst_NONSYNONYMOUS[GTG:V GgG:G U] chr14 103988358 A C 4 0 0 A->C CKB novel Non Coding chr14 103988367 T G 4 0 0 T->G CKB novel CDS [340-341 113-114] subst_NONSYNONYMOUS[AAC:N AcC:T c] chr14 103988368 T G 4 0 0 T->G CKB novel CDS [339-340 113-114] subst_NONSYNONYMOUS[AAC:N cAC:H U] chr15 34523789 C T 132 T:55 C:77 C->T SLC12A6 novel Non Coding chr15 34629508 A G 255 G:62 A:65 A->G SLC12A6 novel Non Coding chr15 34630153 G T 3 T:1 G:1 G->T SLC12A6 novel Non Coding chr15 45900222 A G 255 G:333 A:326 A->G PLDN novel Non Coding chr15 89417902 A C 255 C:388 A:401 A->C ACAN novel Non Coding chr16 396603 C T 255 T:188 C:179 C->T AXIN1 novel CDS [422-423 140-141] subst_synonymous[GCG:A GCa:A c] chr16 21747662 G A 33 A:75 G:595 G->A OTOA novel CDS [2381-2382 793-794] subst_synonymous[CAG:Q CAa:Q c] chr17 8924920 C G 4 0 0 C->G NTN1 novel Non Coding chr17 8924921 C G 4 0 0 C->G NTN1 novel Non Coding chr17 8924925 C G 4 0 0 C->G NTN1 novel Non Coding chr17 8924927 C G 4 0 0 C->G NTN1 novel Non Coding chr17 8924932 A G 4 0 0 A->G NTN1 novel Non Coding chr17 8925602 T C 0 0 0 T->C NTN1 novel Non Coding chr17 8925617 T G 0 0 0 T->G NTN1 novel Non Coding chr17 8925743 T C 4 0 0 T->C NTN1 novel CDS [52-53 17-18] subst_NONSYNONYMOUS[CTG:L CcG:P U] chr17 8925746 T G 4 0 0 T->G NTN1 novel CDS [55-56 18-19] subst_NONSYNONYMOUS[GTG:V GgG:G U] chr17 8925751 G C 4 0 0 G->C NTN1 novel CDS [60-61 20-21] subst_NONSYNONYMOUS[GCG:A cCG:P U] chr17 8926433 G C 0 0 0 G->C NTN1 novel CDS [742-743 247-248] subst_NONSYNONYMOUS[CGC:R CcC:P U] chr17 8926436 T G 0 0 0 T->G NTN1 novel CDS [745-746 248-249] subst_NONSYNONYMOUS[GTG:V GgG:G U] chr17 9124472 C G 57 G:27 C:110 C->G NTN1 novel Non Coding chr17 9143279 G A 75 A:7 G:21 G->A NTN1 novel CDS [1808-1809 602-603] subst_synonymous[AAG:K AAa:K c] chr17 9143335 C G 10 0 0 C->G NTN1 novel Non Coding chr17 18024389 G C 6 0 0 G->C MYO15A novel CDS [2274-2275 758-759] subst_NONSYNONYMOUS[GGG:G cGG:R U] chr17 18047112 T G 25 G:5 T:25 T->G MYO15A novel Non Coding chr17 29422234 T C 22 C:1 T:0 T->C NF1 novel Non Coding chr17 29422400 T G 4 0 0 T->G NF1 novel Non Coding chr17 29422407 C G 4 0 0 C->G NF1 novel Non Coding chr17 29545987 A T 129 T:17 A:16 A->T NF1 novel Non Coding chr17 29559074 T A 56 A:9 T:42 T->A NF1 novel Non Coding chr17 29559075 T A 11 A:7 T:42 T->A NF1 novel Non Coding chr17 38219256 G C 4 0 0 G->C THRA novel Non Coding chr17 38249873 C A 4 A:2 C:1 C->A THRA novel Non Coding chr17 38512948 A C 18 C:10 A:28 A->C RARA novel CDS [1833-1834 611-612] subst_NONSYNONYMOUS[ACC:T cCC:P c] chr17 70119150 C A 8 A:2 C:10 C->A SOX9 novel Non Coding chr17 70122518 G T 107 T:16 G:90 G->T SOX9 novel Non Coding chr17 72913795 C G 6 G:3 C:9 C->G USH1G novel Non Coding chr17 72913798 A C 65 C:4 A:6 A->C USH1G novel Non Coding chr17 72919291 A C 0 0 0 A->C USH1G novel Non Coding chr18 55470236 T C 4 0 0 T->C AC022724.2 novel Non Coding chr18 55470296 A C 10 0 0 A->C AC022724.2 novel Non Coding chr19 10679451 G A 30 A:1 G:0 G->A CDKN2D novel Non Coding chr19 50706948 A G 4 0 0 A->G MYH14 novel Non Coding chr19 50706953 T G 4 0 0 T->G MYH14 novel Non Coding chr1 1284490 G A 51 A:14 G:0 G->A DVL1 novel Non Coding chr1 2461182 A G 1 0 0 A->G HES5 novel CDS [226-227 75-76] subst_NONSYNONYMOUS[GTC:V GcC:A c] chr1 6484838 A C 18 0 0 A->C HES2 novel Non Coding chr1 6484900 T C 4 0 0 T->C HES2 novel Non Coding chr1 6484904 G C 4 0 0 G->C HES2 novel Non Coding chr1 6484905 G C 4 0 0 G->C HES2 novel Non Coding chr1 6484914 T G 4 0 0 T->G HES2 novel Non Coding chr1 6485197 T C 5 0 0 T->C ESPN novel CDS [181-182 60-61] subst_NONSYNONYMOUS[CTC:L CcC:P U] chr1 6485283 C G 4 0 0 C->G ESPN novel CDS [267-268 89-90] subst_NONSYNONYMOUS[CTG:L gTG:V c] chr1 6500319 T G 0 0 0 T->G ESPN novel CDS [85-86 28-29] subst_NONSYNONYMOUS[GTG:V GgG:G U] chr1 6500469 A C 4 0 0 A->C ESPN novel CDS [235-236 78-79] subst_NONSYNONYMOUS[CAG:Q CcG:P c] chr1 6500472 T C 4 0 0 T->C ESPN novel CDS [238-239 79-80] subst_NONSYNONYMOUS[ATG:M AcG:T c] chr1 6500495 T G 4 0 0 T->G ESPN novel CDS [261-262 87-88] subst_NONSYNONYMOUS[TGG:W gGG:G c] chr1 6500498 T G 4 0 0 T->G ESPN novel CDS [264-265 88-89] subst_NONSYNONYMOUS[TTG:L gTG:V c] chr1 6500499 T G 4 0 0 T->G ESPN novel CDS [265-266 88-89] subst_NONSYNONYMOUS[TTG:L TgG:W U] chr1 6500509 C G 4 0 0 C->G ESPN novel Non Coding chr1 6500526 C G 4 0 0 C->G ESPN novel Non Coding chr1 6500527 A G 4 0 0 A->G ESPN novel Non Coding chr1 6500774 T A 4 0 0 T->A ESPN novel CDS [322-323 107-108] subst_NONSYNONYMOUS[GTG:V GaG:E U] chr1 6500994 T G 0 0 0 T->G ESPN novel CDS [417-418 139-140] subst_NONSYNONYMOUS[TGC:C gGC:G U] chr1 6508835 A C 4 0 0 A->C ESPN novel CDS [1598-1599 532-533] subst_synonymous[GCA:A GCc:A c] chr1 6508844 C A 4 0 0 C->A ESPN novel CDS [1607-1608 535-536] subst_synonymous[GGC:G GGa:G c] chr1 6508845 A G 4 0 0 A->G ESPN novel CDS [0-1 0-1] subst_NONSYNONYMOUS[ATG:M gTG:V c] chr1 6509136 T C 4 0 0 T->C ESPN novel CDS [201-202 67-68] subst_NONSYNONYMOUS[TCC:S cCC:P U] chr1 11709159 G C 0 0 0 G->C FBXO2 novel CDS [740-741 246-247] subst_synonymous[GGC:G GGg:G c] chr1 11709163 T C 4 0 0 T->C FBXO2 novel CDS [736-737 245-246] subst_NONSYNONYMOUS[GAC:D GgC:G U] chr1 11709165 A C 4 0 0 A->C FBXO2 novel CDS [734-735 244-245] subst_NONSYNONYMOUS[AGT:S AGg:R U] chr1 35247085 G T 22 T:1 G:0 G->T C1orf212 novel Non Coding chr1 85484476 A G 255 G:231 A:335 A->G MCOLN3 novel Non Coding chr1 87812232 G T 255 T:305 G:364 G->T LMO4 novel Non Coding chr1 103356086 C A 255 A:33 C:63 C->A COL11A1 novel Non Coding chr1 160039986 C G 4 0 0 C->G KCNJ10 novel Non Coding chr1 160397566 T G 255 G:278 T:284 T->G VANGL2 novel Non Coding chr1 215796196 A T 125 T:9 A:9 A->T USH2A novel Non Coding chr1 215823898 G C 255 C:185 G:196 G->C USH2A novel Non Coding chr1 216246679 C T 128 T:9 C:23 C->T USH2A novel Non Coding chr1 218519935 C A 115 A:17 C:86 C->A TGFB2 novel Non Coding chr1 218519936 A C 15 C:11 A:96 A->C TGFB2 novel Non Coding chr20 3219913 A T 4 0 0 A->T SLC4A11 novel Non Coding chr20 3219914 T C 4 0 0 T->C SLC4A11 novel Non Coding chr20 3219915 G C 4 0 0 G->C SLC4A11 novel Non Coding chr20 39314676 T G 4 G:48 T:403 T->G MAFB novel Non Coding chr20 57875483 G A 41 A:10 G:4 G->A EDN3 novel Non Coding chr21 35820000 C T 40 T:9 C:27 C->T KCNE1 novel Non Coding chr22 23522583 G A 1 A:1 G:2 G->A BCR novel Non Coding chr22 23522602 G C 0 0 0 G->C BCR novel Non Coding chr22 23522606 T G 0 0 0 T->G BCR novel Non Coding chr22 23522607 G A 0 0 0 G->A BCR novel Non Coding chr22 23522608 T G 0 0 0 T->G BCR novel Non Coding chr22 23522778 C G 4 0 0 C->G BCR novel Non Coding chr22 23522779 A G 4 0 0 A->G BCR novel Non Coding chr22 23522780 C G 4 0 0 C->G BCR novel Non Coding chr22 23522783 C G 4 0 0 C->G BCR novel Non Coding chr22 23522786 C G 4 0 0 C->G BCR novel Non Coding chr22 23522789 C G 4 0 0 C->G BCR novel Non Coding chr22 23658910 G C 23 C:11 G:3 G->C BCR novel Non Coding chr22 34316421 T G 3 0 0 T->G LARGE novel Non Coding chr22 36714321 G A 255 A:117 G:141 G->A MYH9 novel CDS [1157-1158 385-386] subst_synonymous[ACC:T ACt:T c] chr22 36715547 C T 255 T:125 C:141 C->T MYH9 novel Non Coding chr22 38142356 C G 4 0 0 C->G TRIOBP novel CDS [111-112 37-38] subst_NONSYNONYMOUS[CGG:R gGG:G U] chr22 38142359 A C 4 0 0 A->C TRIOBP novel CDS [114-115 38-39] subst_NONSYNONYMOUS[AGC:S cGC:R U] chr22 38142361 C G 4 0 0 C->G TRIOBP novel CDS [116-117 38-39] subst_NONSYNONYMOUS[AGC:S AGg:R U] chr22 38142363 C G 4 0 0 C->G TRIOBP novel CDS [118-119 39-40] subst_NONSYNONYMOUS[CCG:P CgG:R U] chr22 38142431 A C 1 0 0 A->C NOL12 novel Non Coding chr22 38142433 T G 10 0 0 T->G NOL12 novel Non Coding chr22 38142434 G C 1 0 0 G->C NOL12 novel Non Coding chr22 38142448 C G 4 0 0 C->G NOL12 novel Non Coding chr22 38142456 C G 4 0 0 C->G NOL12 novel Non Coding chr22 38169990 G C 16 C:2 G:12 G->C NOL12 novel Non Coding chr22 38171316 C T 30 T:1 C:0 C->T TRIOBP novel Non Coding chr22 46757167 G C 255 C:338 G:318 G->C CELSR1 novel Non Coding chr22 46765185 T G 15 G:3 T:16 T->G CELSR1 novel Non Coding chr22 46930990 T C 182 C:18 T:38 T->C CELSR1 novel CDS [201-202 67-68] subst_NONSYNONYMOUS[AGC:S gGC:G c] chr2 70781060 A C 1 0 0 A->C TGFA novel Non Coding chr2 73613018 T C 13 0 0 T->C ALMS1 novel CDS [21-22 7-8] subst_NONSYNONYMOUS[TGG:W cGG:R c] chr2 73675227 T C 255 C:23 T:63 T->C ALMS1 novel CDS [1569-1570 523-524] subst_NONSYNONYMOUS[TCT:S cCT:P U] chr2 170099474 G A 255 A:115 G:357 G->A LRP2 novel CDS [3247-3248 1082-1083] subst_NONSYNONYMOUS[GCA:A GtA:V c] chr2 170131652 G A 255 A:303 G:329 G->A LRP2 novel CDS [1661-1662 553-554] subst_synonymous[GCC:A GCt:A c] chr2 212247412 A G 255 G:454 A:484 A->G ERBB4 novel Non Coding chr2 223158656 A G 124 G:10 A:30 A->G PAX3 novel Non Coding chr2 227942764 A G 226 G:18 A:14 A->G COL4A4 novel CDS [1832-1833 610-611] subst_synonymous[GGT:G GGc:G c] chr2 227985862 A G 255 G:83 A:62 A->G COL4A4 novel CDS [194-195 64-65] subst_synonymous[GGT:G GGc:G c] chr2 228029452 C G 4 0 0 C->G COL4A3 novel CDS [9-10 3-4] subst_NONSYNONYMOUS[CGG:R gGG:G U] chr2 228029455 A C 4 0 0 A->C COL4A3 novel CDS [12-13 4-5] subst_NONSYNONYMOUS[ACC:T cCC:P c] chr3 49680607 C T 255 T:37 C:30 C->T BSN novel Non Coding chr3 49699596 A G 23 G:10 A:37 A->G BSN novel CDS [10317-10318 3439-3440] subst_NONSYNONYMOUS[AGC:S gGC:G c] chr3 49702638 A T 27 T:1 A:0 A->T BSN novel Non Coding chr3 70014965 G A 255 A:38 G:71 G->A MITF novel Non Coding chr3 183873247 C G 4 0 0 C->G EIF2B5 novel Non Coding chr3 183873250 C G 4 0 0 C->G EIF2B5 novel Non Coding chr3 183873253 C G 4 0 0 C->G EIF2B5 novel Non Coding chr3 183890601 C T 10 0 0 C->T EIF2B5 novel Non Coding chr3 183890615 C A 17 0 0 C->A EIF2B5 novel Non Coding chr3 184279915 C G 4 0 0 C->G EIF2B5 novel Non Coding chr3 184279917 A C 4 0 0 A->C EIF2B5 novel Non Coding chr3 184279921 T G 4 0 0 T->G EIF2B5 novel Non Coding chr3 184279922 G C 4 0 0 G->C EIF2B5 novel Non Coding chr3 184279929 A C 4 0 0 A->C EIF2B5 novel Non Coding chr3 191113787 T C 255 C:256 T:325 T->C CCDC50 novel Non Coding chr4 1795190 C G 4 0 0 C->G FGFR3 novel CDS [156-157 52-53] subst_NONSYNONYMOUS[CAG:Q gAG:E c] chr4 1809033 A C 8 C:2 A:6 A->C FGFR3 novel CDS [148-149 49-50] subst_NONSYNONYMOUS[CAC:H CcC:P c] chr4 1809125 T C 26 C:2 T:3 T->C FGFR3 novel CDS [240-241 80-81] subst_NONSYNONYMOUS[TGC:C cGC:R U] chr4 4190723 A C 57 C:6 A:177 A->C OTOP1 novel Non Coding chr4 77134748 T G 0 0 0 T->G SCARB2 novel Non Coding chr4 77134750 C A 0 0 0 C->A SCARB2 novel Non Coding chr4 77134752 A G 7 0 0 A->G SCARB2 novel Non Coding chr4 77134759 A G 7 0 0 A->G SCARB2 novel Non Coding chr4 77135023 C G 4 0 0 C->G SCARB2 novel Non Coding chr4 77135024 A C 4 0 0 A->C SCARB2 novel Non Coding chr4 77135031 C G 4 0 0 C->G SCARB2 novel Non Coding chr4 77135033 A G 4 0 0 A->G SCARB2 novel Non Coding chr4 77135037 A G 4 0 0 A->G SCARB2 novel Non Coding chr4 77135038 A C 4 0 0 A->C SCARB2 novel Non Coding chr4 77135043 C G 4 0 0 C->G SCARB2 novel Non Coding chr4 77135048 A G 4 0 0 A->G SCARB2 novel Non Coding chr4 77135050 T G 0 0 0 T->G SCARB2 novel Non Coding chr5 1073886 G A 156 A:10 G:10 G->A SLC12A7 novel CDS [2099-2100 699-700] subst_synonymous[GAC:D GAt:D c] chr5 1085451 C A 16 A:5 C:30 C->A SLC12A7 novel CDS [812-813 270-271] subst_NONSYNONYMOUS[AAG:K AAt:N c] chr5 68710999 T G 4 0 0 T->G MARVELD2 novel Non Coding chr5 68711024 T C 0 0 0 T->C MARVELD2 novel Non Coding chr5 89985795 T C 255 C:361 T:374 T->C GPR98 novel CDS [6607-6608 2202-2203] subst_NONSYNONYMOUS[GTG:V GcG:A c] chr5 90459600 T G 17 G:37 T:135 T->G GPR98 novel CDS [5786-5787 1928-1929] subst_synonymous[GGT:G GGg:G c] chr5 127419483 G C 1 0 0 G->C SLC12A2 novel Non Coding chr5 127477486 T C 255 C:134 T:181 T->C SLC12A2 novel Non Coding chr5 149769574 A C 14 C:8 A:28 A->C TCOF1 novel CDS [3281-3282 1093-1094] subst_synonymous[GGA:G GGc:G c] chr5 174157582 A G 152 G:24 A:112 A->G MSX2 novel Non Coding chr6 33147473 T C 0 0 0 T->C COL11A2 novel Non Coding chr6 35791207 T C 3 C:6 T:47 T->C LHFPL5 novel Non Coding chr6 43044038 G C 0 0 0 G->C PTK7 novel Non Coding chr6 43044043 C A 0 0 0 C->A PTK7 novel Non Coding chr6 43044044 T C 7 0 0 T->C PTK7 novel Non Coding chr6 43044046 G C 0 0 0 G->C PTK7 novel Non Coding chr6 43044051 T G 7 0 0 T->G PTK7 novel Non Coding chr6 76458899 T C 18 0 0 T->C MYO6 novel Non Coding chr6 76458918 G C 0 0 0 G->C MYO6 novel Non Coding chr6 76458926 G C 0 0 0 G->C MYO6 novel Non Coding chr6 76458936 C A 4 0 0 C->A MYO6 novel Non Coding chr6 76458941 C A 4 0 0 C->A MYO6 novel Non Coding chr6 107811480 C G 4 0 0 C->G SOBP novel Non Coding chr6 107811484 A C 4 0 0 A->C SOBP novel Non Coding chr6 107811486 C G 4 0 0 C->G SOBP novel Non Coding chr6 107811490 A G 4 0 0 A->G SOBP novel Non Coding chr6 107811494 A G 4 0 0 A->G SOBP novel Non Coding chr6 107811498 C G 4 0 0 C->G SOBP novel Non Coding chr6 129837682 A T 39 T:7 A:42 A->T LAMA2 novel Non Coding chr6 129837688 T A 38 A:8 T:40 T->A LAMA2 novel Non Coding chr6 133850246 A T 102 T:13 A:63 A->T EYA4 novel Non Coding chr6 133850250 T G 104 G:12 T:68 T->G EYA4 novel Non Coding chr7 2559812 T C 0 0 0 T->C LFNG novel CDS [316-317 105-106] subst_NONSYNONYMOUS[CTG:L CcG:P U] chr7 2559813 G C 0 0 0 G->C LFNG novel CDS [317-318 105-106] subst_synonymous[CTG:L CTc:L c] chr7 24796996 G C 17 0 0 G->C DFNA5 novel Non Coding chr7 24797002 G C 4 0 0 G->C DFNA5 novel Non Coding chr7 24797009 A G 4 0 0 A->G DFNA5 novel Non Coding chr7 24797014 C A 4 0 0 C->A DFNA5 novel Non Coding chr7 24797020 C G 4 0 0 C->G DFNA5 novel Non Coding chr7 81359126 C T 128 T:22 C:53 C->T HGF novel Non Coding chr7 103086581 G C 7 0 0 G->C SLC26A5 novel Non Coding chr7 103086583 T C 7 0 0 T->C SLC26A5 novel Non Coding chr7 103086586 A C 7 0 0 A->C SLC26A5 novel Non Coding chr8 38285636 C G 255 G:113 C:114 C->G FGFR1 novel Non Coding chr8 38325732 A G 4 0 0 A->G FGFR1 novel Non Coding chr8 61773448 G A 255 A:218 G:255 G->A CHD7 novel Non Coding chr8 104343938 G A 16 A:6 G:48 G->A FZD6 novel Non Coding chr8 144887511 T C 10 0 0 T->C SCRIB novel CDS [2440-2441 813-814] subst_NONSYNONYMOUS[GAG:E GgG:G U] chr9 71736305 T C 4 0 0 T->C RP11-265B8.4 novel Non Coding chr9 71788976 G C 0 0 0 G->C TJP2 novel Non Coding chr9 71788978 T C 0 0 0 T->C TJP2 novel Non Coding chr9 71789008 C G 4 0 0 C->G TJP2 novel Non Coding chr9 71789027 A G 10 0 0 A->G TJP2 novel Non Coding chr9 71789061 T C 4 0 0 T->C TJP2 novel Non Coding chr9 71789111 G C 4 0 0 G->C TJP2 novel Non Coding chr9 71789112 C G 4 0 0 C->G TJP2 novel Non Coding chr9 71789115 A G 4 0 0 A->G TJP2 novel Non Coding chr9 71849315 T C 35 C:5 T:19 T->C TJP2 novel Non Coding chr9 102591286 G C 255 C:25 G:36 G->C NR4A3 novel Non Coding chr9 139413211 T G 14 G:6 T:12 T->G NOTCH1 novel CDS [930-931 310-311] subst_NONSYNONYMOUS[ACC:T cCC:P c] chr9 139417464 T G 30 G:6 T:14 T->G NOTCH1 novel CDS [579-580 193-194] subst_NONSYNONYMOUS[ACC:T cCC:P c] chr9 139440232 G A 4 0 0 G->A NOTCH1 novel CDS [6-7 2-3] subst_NONSYNONYMOUS[CCG:P tCG:S U] chr9 139440235 G C 4 0 0 G->C NOTCH1 novel CDS [3-4 1-2] subst_NONSYNONYMOUS[CCG:P gCG:A U] chr9 139440238 T C 4 0 0 T->C NOTCH1 novel CDS [0-1 0-1] subst_NONSYNONYMOUS[ATG:M gTG:V c] chr9 139440242 T C 4 0 0 T->C NOTCH1 novel Non Coding chr9 139440247 A G 4 0 0 A->G NOTCH1 novel Non Coding chr9 139440251 G T 4 0 0 G->T NOTCH1 novel Non Coding chr9 139440262 C G 4 0 0 C->G NOTCH1 novel Non Coding chr9 140094607 C G 4 0 0 C->G C9orf75 novel CDS [556-557 185-186] subst_NONSYNONYMOUS[GGG:G GcG:A c] chr9 140094612 A G 4 0 0 A->G C9orf75 novel CDS [551-552 183-184] subst_synonymous[GGT:G GGc:G c]