chr10 55581364 A C 195 C:204 A:965 A->C PCDH15 novel Non Coding chr10 73156976 C G 2 0 0 C->G CDH23 novel Non Coding chr10 102505431 T C 1 0 0 T->C PAX2 novel Non Coding chr10 102505432 T C 1 0 0 T->C PAX2 novel Non Coding chr10 102505434 G C 0 0 0 G->C PAX2 novel Non Coding chr10 124895580 G C 4 0 0 G->C HMX3 novel CDS [13-14 4-5] subst_NONSYNONYMOUS[GGG:G GcG:A c] chr10 124895584 G C 4 0 0 G->C HMX3 novel CDS [17-18 5-6] subst_synonymous[CCG:P CCc:P c] chr10 124895586 A C 4 0 0 A->C HMX3 novel CDS [19-20 6-7] subst_NONSYNONYMOUS[GAC:D GcC:A c] chr10 124895590 T G 4 0 0 T->G HMX3 novel CDS [23-24 7-8] subst_synonymous[GCT:A GCg:A c] chr10 124895594 G C 4 0 0 G->C HMX3 novel CDS [27-28 9-10] subst_NONSYNONYMOUS[GGC:G cGC:R U] chr10 124895595 G C 4 0 0 G->C HMX3 novel CDS [28-29 9-10] subst_NONSYNONYMOUS[GGC:G GcC:A c] chr10 124895737 G C 4 0 0 G->C HMX3 novel CDS [170-171 56-57] subst_synonymous[GCG:A GCc:A c] chr10 124897144 C G 4 0 0 C->G HMX3 novel CDS [970-971 323-324] subst_NONSYNONYMOUS[GCG:A GgG:G c] chr10 124897157 G C 4 0 0 G->C HMX3 novel CDS [983-984 327-328] subst_synonymous[GTG:V GTc:V c] chr10 124897160 A G 4 0 0 A->G HMX3 novel CDS [986-987 328-329] subst_synonymous[CCA:P CCg:P c] chr10 124897164 A C 0 0 0 A->C HMX3 novel CDS [990-991 330-331] subst_NONSYNONYMOUS[AGC:S cGC:R U] chr11 2869446 G A 255 A:117 G:130 G->A KCNQ1 novel Non Coding chr11 8040816 G C 0 0 0 G->C novel Coding chr11 8040820 G C 0 0 0 G->C novel Coding chr11 8124460 T C 101 C:22 T:102 T->C TUB novel Non Coding chr11 17515457 A G 2 G:8 A:51 A->G USH1C novel Non Coding chr11 20142118 A C 132 C:80 A:1080 A->C NAV2 novel Non Coding chr11 27741298 G C 30 C:1 G:0 G->C BDNF novel Non Coding chr11 69633640 G C 0 0 0 G->C FGF3 novel CDS [61-62 20-21] subst_NONSYNONYMOUS[CCT:P CgT:R U] chr11 69634049 C G 4 0 0 C->G FGF3 novel Non Coding chr11 69634052 C G 4 0 0 C->G FGF3 novel Non Coding chr11 69634056 T G 4 0 0 T->G FGF3 novel Non Coding chr11 69634061 A G 4 0 0 A->G FGF3 novel Non Coding chr11 69634068 C G 4 0 0 C->G FGF3 novel Non Coding chr11 69634073 C T 4 0 0 C->T FGF3 novel Non Coding chr11 69634123 G C 4 0 0 G->C FGF3 novel Non Coding chr11 71806736 T G 92 G:30 T:61 T->G LRTOMT novel Non Coding chr11 71806737 G A 27 A:14 G:66 G->A LRTOMT novel Non Coding chr11 76895774 G A 6 A:2 G:1 G->A MYO7A novel CDS [3516-3517 1172-1173] subst_NONSYNONYMOUS[GGC:G aGC:S c] chr11 76901026 G A 4 0 0 G->A MYO7A novel Non Coding chr11 76901028 G C 4 0 0 G->C MYO7A novel Non Coding chr11 76901033 A G 26 G:1 A:0 A->G MYO7A novel Non Coding chr11 76901141 T G 4 0 0 T->G MYO7A novel CDS [3706-3707 1235-1236] subst_NONSYNONYMOUS[GTC:V GgC:G U] chr11 76901159 A G 4 0 0 A->G MYO7A novel CDS [3724-3725 1241-1242] subst_NONSYNONYMOUS[CAG:Q CgG:R c] chr11 76914111 A C 2 C:1 A:0 A->C MYO7A novel CDS [5060-5061 1686-1687] subst_synonymous[CCA:P CCc:P c] chr11 110167155 A C 4 0 0 A->C RDX novel Non Coding chr11 110167182 C A 0 0 0 C->A RDX novel Non Coding chr11 110167237 T C 4 0 0 T->C RDX novel Non Coding chr11 110167245 G C 4 0 0 G->C RDX novel Non Coding chr11 110167247 C G 4 0 0 C->G RDX novel Non Coding chr11 110167253 T C 4 0 0 T->C RDX novel Non Coding chr11 110167270 A G 4 0 0 A->G RDX novel Non Coding chr11 110167275 T G 4 0 0 T->G RDX novel Non Coding chr11 110167294 C G 4 0 0 C->G RDX novel Non Coding chr11 110167300 A G 4 0 0 A->G RDX novel Non Coding chr11 121028877 G A 255 A:460 G:492 G->A TECTA novel CDS [4632-4633 1544-1545] subst_NONSYNONYMOUS[GTC:V aTC:I c] chr12 80878176 T C 81 C:26 T:75 T->C PTPRQ novel Non Coding chr12 80890327 T C 244 C:29 T:77 T->C PTPRQ novel Non Coding chr12 102872417 C G 255 G:321 C:357 C->G IGF1 novel Non Coding chr13 20806506 T C 4 0 0 T->C GJB6 novel Non Coding chr13 20806511 T C 4 0 0 T->C GJB6 novel Non Coding chr13 21205127 T A 45 A:4 T:33 T->A IFT88 novel Non Coding chr14 76968002 A G 48 G:30 A:591 A->G ESRRB novel Non Coding chr14 80678103 C T 26 T:3 C:11 C->T DIO2 novel Non Coding chr14 80678116 G T 4 0 0 G->T DIO2 novel Non Coding chr14 81609723 A C 255 C:217 A:942 A->C TSHR novel CDS [261-262 87-88] subst_NONSYNONYMOUS[ACC:T cCC:P c] chr14 103988174 G C 4 0 0 G->C CKB novel CDS [353-354 117-118] subst_NONSYNONYMOUS[ATC:I ATg:M c] chr14 103988187 T C 0 0 0 T->C CKB novel CDS [344-345 114-115] subst_synonymous[GGA:G GGg:G c] chr14 103988193 C A 0 0 0 C->A CKB novel CDS [338-339 112-113] subst_synonymous[CCG:P CCt:P c] chr15 45814856 A G 4 0 0 A->G SLC30A4 novel Non Coding chr15 45814880 A G 9 0 0 A->G SLC30A4 novel Non Coding chr15 45900940 T C 255 C:1060 T:2 T->C PLDN novel Non Coding chr15 88799653 T C 0 0 0 T->C NTRK3 novel Non Coding chr15 89399224 C T 3 0 0 C->T ACAN novel CDS [3407-3408 1135-1136] subst_synonymous[ACC:T ACt:T c] chr15 89399281 C T 4 0 0 C->T ACAN novel CDS [3464-3465 1154-1155] subst_synonymous[ACC:T ACt:T c] chr15 89399338 C T 4 0 0 C->T ACAN novel CDS [3521-3522 1173-1174] subst_synonymous[ACC:T ACt:T c] chr16 21699005 T G 2 G:3 T:19 T->G OTOA novel Non Coding chr16 21772079 A G 3 0 0 A->G OTOA novel Non Coding chr17 7129668 C G 255 G:61 C:66 C->G DVL2 novel Non Coding chr17 18024619 A G 4 0 0 A->G MYO15A novel CDS [2504-2505 834-835] subst_synonymous[CCA:P CCg:P c] chr17 18047112 T G 26 G:8 T:33 T->G MYO15A novel Non Coding chr17 18065889 G A 169 A:36 G:31 G->A MYO15A novel Non Coding chr17 29422273 G C 4 0 0 G->C NF1 novel Non Coding chr17 29482988 C T 14 T:88 C:295 C->T NF1 novel Non Coding chr17 29545987 A T 122 T:31 A:44 A->T NF1 novel Non Coding chr17 38219274 A C 4 0 0 A->C THRA novel Non Coding chr17 38219291 G C 4 0 0 G->C THRA novel Non Coding chr17 38219310 G C 4 0 0 G->C THRA novel Non Coding chr17 38219311 T G 4 0 0 T->G THRA novel Non Coding chr17 38219315 T C 4 0 0 T->C THRA novel Non Coding chr17 72913795 C G 109 G:7 C:19 C->G USH1G novel Non Coding chr17 72913798 A C 16 C:2 A:12 A->C USH1G novel Non Coding chr18 44118273 G A 255 A:245 G:248 G->A LOXHD1 novel CDS [3106-3107 1035-1036] subst_NONSYNONYMOUS[ACC:T AtC:I c] chr18 55470197 T G 8 0 0 T->G AC022724.2 novel Non Coding chr18 55470205 C G 22 G:1 C:0 C->G AC022724.2 novel Non Coding chr18 55470208 C A 11 0 0 C->A AC022724.2 novel Non Coding chr18 55470211 G C 4 0 0 G->C AC022724.2 novel Non Coding chr18 55470212 C G 4 0 0 C->G AC022724.2 novel Non Coding chr18 55470220 C G 4 0 0 C->G AC022724.2 novel Non Coding chr19 2111724 G C 4 0 0 G->C AP3D1 novel CDS [2581-2582 860-861] subst_NONSYNONYMOUS[GCG:A GgG:G c] chr19 2111726 T C 4 0 0 T->C AP3D1 novel CDS [2579-2580 859-860] subst_synonymous[GCA:A GCg:A c] chr19 10333856 A C 29 C:1 A:0 A->C S1PR2 novel Non Coding chr19 10333882 G A 4 0 0 G->A S1PR2 novel Non Coding chr19 10333884 C A 4 0 0 C->A S1PR2 novel Non Coding chr19 10333890 C A 4 0 0 C->A S1PR2 novel Non Coding chr19 46271790 C G 4 0 0 C->G SIX5 novel CDS [312-313 104-105] subst_NONSYNONYMOUS[GGC:G cGC:R U] chr19 50706902 G C 4 0 0 G->C MYH14 novel Non Coding chr19 50706906 C G 4 0 0 C->G MYH14 novel Non Coding chr19 50706917 C G 4 0 0 C->G MYH14 novel Non Coding chr19 50706920 T G 0 0 0 T->G MYH14 novel Non Coding chr1 1284490 G A 87 A:18 G:0 G->A DVL1 novel Non Coding chr1 1284525 T C 7 0 0 T->C DVL1 novel Non Coding chr1 1284528 G C 7 0 0 G->C DVL1 novel Non Coding chr1 2461012 G T 27 T:1 G:0 G->T HES5 novel CDS [396-397 132-133] subst_NONSYNONYMOUS[CCC:P aCC:T c] chr1 6484878 C T 22 T:1 C:0 C->T HES2 novel Non Coding chr1 6484880 A G 21 0 0 A->G HES2 novel Non Coding chr1 6500712 C G 4 G:1 C:1 C->G ESPN novel CDS [701-702 233-234] subst_synonymous[TCC:S TCg:S c] chr1 6505917 A G 89 G:14 A:20 A->G ESPN novel CDS [1385-1386 461-462] subst_synonymous[GTA:V GTg:V c] chr1 11708902 C T 130 T:24 C:18 C->T FBXO2 novel Non Coding chr1 11709130 T G 5 0 0 T->G FBXO2 novel Non Coding chr1 11714452 T G 4 0 0 T->G FBXO2 novel Non Coding chr1 35249799 G A 23 A:1 G:0 G->A C1orf212 novel Non Coding chr1 35249823 G T 17 0 0 G->T C1orf212 novel Non Coding chr1 41288105 G C 32 C:7 G:3 G->C KCNQ4 novel Non Coding chr1 55464922 C T 255 T:99 C:111 C->T BSND novel CDS [62-63 20-21] subst_synonymous[CTC:L CTt:L c] chr1 85514075 T G 4 0 0 T->G MCOLN3 novel Non Coding chr1 85514091 G C 0 0 0 G->C MCOLN3 novel Non Coding chr1 87794315 T C 1 0 0 T->C LMO4 novel Non Coding chr1 87794325 T C 1 0 0 T->C LMO4 novel Non Coding chr1 87794342 T C 0 0 0 T->C LMO4 novel Non Coding chr1 87794437 A G 30 G:1 A:0 A->G LMO4 novel Non Coding chr1 87794596 C T 32 T:9 C:0 C->T LMO4 novel Non Coding chr1 87794754 A T 62 T:4 A:7 A->T LMO4 novel Non Coding chr1 109461327 G A 255 A:679 G:660 G->A GPSM2 novel CDS [124-125 41-42] subst_NONSYNONYMOUS[GGA:G GaA:E U] chr1 160390827 C T 255 T:84 C:93 C->T VANGL2 novel Non Coding chr1 218519398 G A 31 A:4 G:15 G->A TGFB2 novel Non Coding chr1 218519400 A G 52 G:5 A:17 A->G TGFB2 novel Non Coding chr20 39314676 T G 103 G:105 T:771 T->G MAFB novel Non Coding chr20 39317812 T C 15 0 0 T->C MAFB novel Non Coding chr20 57875483 G A 51 A:3 G:3 G->A EDN3 novel Non Coding chr21 35820000 C T 68 T:17 C:33 C->T KCNE1 novel Non Coding chr22 23522876 A G 4 0 0 A->G BCR novel Non Coding chr22 23523080 A G 30 G:1 A:0 A->G BCR novel Non Coding chr22 23523082 G C 30 C:1 G:0 G->C BCR novel Non Coding chr22 23658094 T C 104 C:81 T:70 T->C BCR novel Non Coding chr22 23658216 C A 143 A:88 C:27 C->A BCR novel Non Coding chr22 23658217 T G 141 G:89 T:27 T->G BCR novel Non Coding chr22 23658413 T C 91 C:74 T:18 T->C BCR novel Non Coding chr22 23659994 T C 31 C:1 T:1 T->C BCR novel Non Coding chr22 38142201 T C 4 0 0 T->C NOL12 novel Non Coding chr22 38142223 A T 4 0 0 A->T NOL12 novel Non Coding chr22 38142305 C G 4 0 0 C->G TRIOBP novel CDS [60-61 20-21] subst_NONSYNONYMOUS[CGG:R gGG:G U] chr22 38142313 C G 4 0 0 C->G TRIOBP novel CDS [68-69 22-23] subst_synonymous[GCC:A GCg:A c] chr22 38142317 A C 4 0 0 A->C TRIOBP novel CDS [72-73 24-25] subst_synonymous[AGG:R cGG:R c] chr22 38142321 G C 4 0 0 G->C TRIOBP novel CDS [76-77 25-26] subst_NONSYNONYMOUS[GGC:G GcC:A c] chr22 38142322 C G 4 0 0 C->G TRIOBP novel CDS [77-78 25-26] subst_synonymous[GGC:G GGg:G c] chr22 38142325 C G 4 0 0 C->G TRIOBP novel CDS [80-81 26-27] subst_synonymous[GGC:G GGg:G c] chr22 38142339 G T 4 0 0 G->T TRIOBP novel CDS [94-95 31-32] subst_NONSYNONYMOUS[GGC:G GtC:V U] chr22 38165226 G T 0 T:1 G:1 G->T NOL12 novel Non Coding chr22 46757040 T G 21 G:35 T:286 T->G CELSR1 novel Non Coding chr22 46760173 T C 131 C:7 T:12 T->C CELSR1 novel Non Coding chr22 46793621 T C 255 C:47 T:50 T->C CELSR1 novel CDS [5650-5651 1883-1884] subst_NONSYNONYMOUS[AAT:N AgT:S c] chr22 46931555 C T 255 T:95 C:95 C->T CELSR1 novel CDS [1512-1513 504-505] subst_NONSYNONYMOUS[GGC:G aGC:S c] chr22 46932489 G C 4 0 0 G->C CELSR1 novel CDS [578-579 192-193] subst_synonymous[GCC:A GCg:A c] chr22 46932495 A C 4 0 0 A->C CELSR1 novel CDS [572-573 190-191] subst_synonymous[GCT:A GCg:A c] chr2 27530600 A G 4 0 0 A->G UCN novel CDS [163-164 54-55] subst_NONSYNONYMOUS[CTC:L CcC:P U] chr2 27530603 A C 4 0 0 A->C UCN novel CDS [160-161 53-54] subst_NONSYNONYMOUS[CTC:L CgC:R U] chr2 27530604 G C 4 0 0 G->C UCN novel CDS [159-160 53-54] subst_NONSYNONYMOUS[CTC:L gTC:V c] chr2 27530606 G C 4 0 0 G->C UCN novel CDS [157-158 52-53] subst_NONSYNONYMOUS[GCG:A GgG:G c] chr2 27530607 C G 4 0 0 C->G UCN novel CDS [156-157 52-53] subst_NONSYNONYMOUS[GCG:A cCG:P U] chr2 27530608 G T 4 0 0 G->T UCN novel CDS [155-156 51-52] subst_synonymous[CGC:R CGa:R c] chr2 27530764 G C 4 0 0 G->C TRIM54 novel Non Coding chr2 27547319 C A 11 0 0 C->A MPV17 novel Non Coding chr2 179318222 A G 255 G:698 A:683 A->G DFNB59 novel CDS [85-86 28-29] subst_NONSYNONYMOUS[GAC:D GgC:G U] chr2 223158656 A G 92 G:22 A:88 A->G PAX3 novel Non Coding chr2 228009256 G A 255 A:1393 G:0 G->A COL4A4 novel CDS [89-90 29-30] subst_synonymous[CTC:L CTt:L c] chr2 228029451 C G 4 0 0 C->G COL4A3 novel CDS [8-9 2-3] subst_synonymous[GCC:A GCg:A c] chr2 228029455 A C 4 0 0 A->C COL4A3 novel CDS [12-13 4-5] subst_NONSYNONYMOUS[ACC:T cCC:P c] chr2 228029458 G C 0 0 0 G->C COL4A3 novel CDS [15-16 5-6] subst_NONSYNONYMOUS[GCC:A cCC:P U] chr3 10367221 C T 7 T:4 C:26 C->T ATP2B2 novel Non Coding chr3 10749639 G C 4 0 0 G->C ATP2B2 novel Non Coding chr3 10749641 C G 4 0 0 C->G ATP2B2 novel Non Coding chr3 10749642 G C 4 0 0 G->C ATP2B2 novel Non Coding chr3 10749648 G C 4 0 0 G->C ATP2B2 novel Non Coding chr3 10749691 C T 30 T:1 C:0 C->T ATP2B2 novel Non Coding chr3 49395683 G C 0 0 0 G->C GPX1 novel CDS [28-29 9-10] subst_NONSYNONYMOUS[GCG:A GgG:G c] chr3 49395685 C G 3 0 0 C->G GPX1 novel CDS [26-27 8-9] subst_synonymous[GCG:A GCc:A c] chr3 49698130 T G 0 G:6 T:30 T->G BSN novel CDS [8851-8852 2950-2951] subst_NONSYNONYMOUS[GTG:V GgG:G U] chr3 53700459 T G 41 G:50 T:478 T->G CACNA1D novel CDS [31-32 10-11] subst_NONSYNONYMOUS[GTT:V GgT:G U] chr3 134514395 G C 122 C:12 G:18 G->C EPHB1 novel Non Coding chr3 150659401 G A 255 A:598 G:636 G->A CLRN1 novel CDS [64-65 21-22] subst_NONSYNONYMOUS[CCC:P CtC:L U] chr3 183873244 C G 4 0 0 C->G EIF2B5 novel Non Coding chr3 183873245 G C 4 0 0 G->C EIF2B5 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 chr4 819835 T G 4 0 0 T->G CPLX1 novel Non Coding chr4 819850 C G 4 0 0 C->G CPLX1 novel Non Coding chr4 819853 T G 4 0 0 T->G CPLX1 novel Non Coding chr4 819854 C G 4 0 0 C->G CPLX1 novel Non Coding chr4 1795099 C G 4 0 0 C->G FGFR3 novel CDS [65-66 21-22] subst_synonymous[GGC:G GGg:G c] chr4 1795150 A C 4 0 0 A->C FGFR3 novel CDS [116-117 38-39] subst_synonymous[GGA:G GGc:G c] chr4 1795163 C G 4 0 0 C->G FGFR3 novel CDS [129-130 43-44] subst_NONSYNONYMOUS[CGT:R gGT:G U] chr4 1795164 G C 4 0 0 G->C FGFR3 novel CDS [130-131 43-44] subst_NONSYNONYMOUS[CGT:R CcT:P U] chr4 1795166 A C 4 0 0 A->C FGFR3 novel CDS [132-133 44-45] subst_NONSYNONYMOUS[AGC:S cGC:R U] chr4 1795170 A C 4 0 0 A->C FGFR3 novel CDS [136-137 45-46] subst_NONSYNONYMOUS[GAG:E GcG:A c] chr4 1795175 G C 4 0 0 G->C FGFR3 novel CDS [141-142 47-48] subst_NONSYNONYMOUS[GGC:G cGC:R U] chr4 1795222 G A 4 0 0 G->A FGFR3 novel Non Coding chr4 1795225 G T 4 0 0 G->T FGFR3 novel Non Coding chr4 4190723 A C 34 C:5 A:264 A->C OTOP1 novel Non Coding chr4 55605809 C T 255 T:546 C:575 C->T KIT novel Non Coding chr4 77134900 G T 4 0 0 G->T SCARB2 novel Non Coding chr4 77134907 C A 0 0 0 C->A SCARB2 novel Non Coding chr4 77134908 G C 0 0 0 G->C SCARB2 novel Non Coding chr4 77134909 G A 0 0 0 G->A SCARB2 novel Non Coding chr4 77134911 C A 0 0 0 C->A SCARB2 novel Non Coding chr4 77134930 T C 4 0 0 T->C SCARB2 novel Non Coding chr4 77134934 T C 4 0 0 T->C SCARB2 novel Non Coding chr4 88536883 T C 29 C:1 T:0 T->C AC093895.1 novel CDS [705-706 235-236] subst_NONSYNONYMOUS[ATT:I gTT:V c] chr4 88536899 A G 4 0 0 A->G AC093895.1 novel CDS [689-690 229-230] subst_synonymous[GTT:V GTc:V c] chr4 88536901 C A 4 0 0 C->A AC093895.1 novel CDS [687-688 229-230] subst_NONSYNONYMOUS[GTT:V tTT:F c] chr5 1051676 T G 18 G:28 T:191 T->G SLC12A7 novel Non Coding chr5 1112019 T C 7 0 0 T->C SLC12A7 novel CDS [87-88 29-30] subst_NONSYNONYMOUS[ACC:T gCC:A c] chr5 1112024 G C 4 0 0 G->C SLC12A7 novel CDS [82-83 27-28] subst_NONSYNONYMOUS[CCG:P CgG:R U] chr5 1112030 T C 4 0 0 T->C SLC12A7 novel CDS [76-77 25-26] subst_NONSYNONYMOUS[GAG:E GgG:G U] chr5 1112044 A C 4 0 0 A->C SLC12A7 novel CDS [62-63 20-21] subst_synonymous[ACT:T ACg:T c] chr5 1112124 A T 4 0 0 A->T SLC12A7 novel Non Coding chr5 1112125 G T 4 0 0 G->T SLC12A7 novel Non Coding chr5 1112126 T G 4 0 0 T->G SLC12A7 novel Non Coding chr5 1112131 G T 4 0 0 G->T SLC12A7 novel Non Coding chr5 1112132 T G 4 0 0 T->G SLC12A7 novel Non Coding chr5 1112137 G C 4 0 0 G->C SLC12A7 novel Non Coding chr5 1112140 C G 4 0 0 C->G SLC12A7 novel Non Coding chr5 68738983 A C 4 0 0 A->C MARVELD2 novel Non Coding chr5 68739003 A C 4 0 0 A->C MARVELD2 novel Non Coding chr5 90459600 T G 56 G:48 T:255 T->G GPR98 novel CDS [5786-5787 1928-1929] subst_synonymous[GGT:G GGg:G c] chr5 127419504 G A 0 0 0 G->A SLC12A2 novel Non Coding chr5 127419510 C G 1 0 0 C->G SLC12A2 novel Non Coding chr5 127419514 G C 0 0 0 G->C SLC12A2 novel Non Coding chr5 127419519 G C 4 0 0 G->C SLC12A2 novel Non Coding chr5 127419926 G C 7 0 0 G->C SLC12A2 novel CDS [279-280 93-94] subst_NONSYNONYMOUS[GCT:A cCT:P U] chr5 127419928 T C 7 0 0 T->C SLC12A2 novel CDS [281-282 93-94] subst_synonymous[GCT:A GCc:A c] chr5 127419929 G C 0 0 0 G->C SLC12A2 novel CDS [282-283 94-95] subst_NONSYNONYMOUS[GCT:A cCT:P U] chr5 127419931 T C 0 0 0 T->C SLC12A2 novel CDS [284-285 94-95] subst_synonymous[GCT:A GCc:A c] chr5 127419932 G C 0 0 0 G->C SLC12A2 novel CDS [285-286 95-96] subst_NONSYNONYMOUS[GCG:A cCG:P U] chr5 127419936 C G 4 0 0 C->G SLC12A2 novel CDS [289-290 96-97] subst_NONSYNONYMOUS[GCG:A GgG:G c] chr5 127419939 C G 4 0 0 C->G SLC12A2 novel CDS [292-293 97-98] subst_NONSYNONYMOUS[GCG:A GgG:G c] chr5 127419942 C G 4 0 0 C->G SLC12A2 novel CDS [295-296 98-99] subst_NONSYNONYMOUS[GCG:A GgG:G c] chr5 127523801 C T 192 T:36 C:124 C->T SLC12A2 novel Non Coding chr5 149754934 A C 16 C:43 A:363 A->C TCOF1 novel CDS [1520-1521 506-507] subst_NONSYNONYMOUS[AAA:K AAc:N c] chr5 169535029 T A 95 A:36 T:169 T->A FOXI1 novel Non Coding chr5 169535030 A C 245 C:49 A:161 A->C FOXI1 novel Non Coding chr5 169535036 T C 255 C:62 T:151 T->C FOXI1 novel Non Coding chr5 174157582 A G 94 G:48 A:251 A->G MSX2 novel Non Coding chr6 2971686 G C 0 0 0 G->C SERPINB6 novel Non Coding chr6 33134364 T G 3 0 0 T->G COL11A2 novel Non Coding chr6 33134374 T G 3 0 0 T->G COL11A2 novel Non Coding chr6 33136575 C T 4 0 0 C->T COL11A2 novel Non Coding chr6 33137689 C T 10 0 0 C->T COL11A2 novel Non Coding chr6 33138677 G A 2 0 0 G->A COL11A2 novel CDS [3203-3204 1067-1068] subst_synonymous[CCC:P CCt:P c] chr6 33138679 G C 1 0 0 G->C COL11A2 novel CDS [3201-3202 1067-1068] subst_NONSYNONYMOUS[CCC:P gCC:A U] chr6 33139468 T C 1 0 0 T->C COL11A2 novel Non Coding chr6 33139475 T G 11 0 0 T->G COL11A2 novel Non Coding chr6 33141161 A G 24 0 0 A->G COL11A2 novel CDS [2519-2520 839-840] subst_synonymous[GAT:D GAc:D c] chr6 33141253 T G 7 0 0 T->G COL11A2 novel Non Coding chr6 33141475 C T 4 0 0 C->T COL11A2 novel Non Coding chr6 33141476 A G 4 0 0 A->G COL11A2 novel Non Coding chr6 33141920 G C 16 0 0 G->C COL11A2 novel Non Coding chr6 33147584 T G 0 0 0 T->G COL11A2 novel Non Coding chr6 33147588 G C 0 0 0 G->C COL11A2 novel Non Coding chr6 33147589 T G 8 0 0 T->G COL11A2 novel Non Coding chr6 33152839 C G 4 0 0 C->G COL11A2 novel Non Coding chr6 33153528 C T 1 0 0 C->T COL11A2 novel CDS [825-826 275-276] subst_NONSYNONYMOUS[GAG:E aAG:K c] chr6 33160251 G A 4 0 0 G->A COL11A2 novel Non Coding chr6 43044125 G T 11 0 0 G->T PTK7 novel CDS [18-19 6-7] subst_NONSYNONYMOUS[GCG:A tCG:S c] chr6 76459139 C G 116 G:19 C:30 C->G MYO6 novel Non Coding chr6 107956105 A C 4 0 0 A->C SOBP novel CDS [2056-2057 685-686] subst_NONSYNONYMOUS[GAG:E GcG:A c] chr6 129837682 A T 81 T:15 A:107 A->T LAMA2 novel Non Coding chr6 133850246 A T 126 T:30 A:137 A->T EYA4 novel Non Coding chr6 133850250 T G 85 G:25 T:137 T->G EYA4 novel Non Coding chr6 133851225 A G 255 G:1231 A:1 A->G EYA4 novel Non Coding chr6 155716483 C A 137 A:61 C:61 C->A NOX3 novel Non Coding chr7 27141768 T G 20 G:1 T:0 T->G HOXA2 novel CDS [351-352 117-118] subst_NONSYNONYMOUS[ACC:T cCC:P c] chr7 27141771 C G 0 0 0 C->G HOXA2 novel CDS [348-349 116-117] subst_NONSYNONYMOUS[GCC:A cCC:P U] chr7 65444358 C G 20 G:3 C:12 C->G GUSB novel Non Coding chr7 65444359 T A 82 A:6 T:10 T->A GUSB novel Non Coding chr7 65447117 G C 0 0 0 G->C GUSB novel CDS [53-54 17-18] subst_synonymous[GGC:G GGg:G c] chr7 81359126 C T 178 T:35 C:110 C->T HGF novel Non Coding chr8 38325708 G C 0 0 0 G->C FGFR1 novel Non Coding chr8 38325710 G C 0 0 0 G->C FGFR1 novel Non Coding chr8 38325720 C A 0 0 0 C->A FGFR1 novel Non Coding chr8 61732542 C A 47 A:15 C:100 C->A CHD7 novel Non Coding chr8 61732543 T C 135 C:18 T:99 T->C CHD7 novel Non Coding chr8 102681490 T C 113 C:52 T:232 T->C GRHL2 novel Non Coding chr8 102681821 A T 255 T:520 A:560 A->T GRHL2 novel Non Coding chr8 144874140 G C 58 C:6 G:23 G->C SCRIB novel Non Coding chr9 71789006 G C 4 0 0 G->C TJP2 novel Non Coding chr9 71789007 C G 4 0 0 C->G TJP2 novel Non Coding chr9 102584130 C T 206 T:20 C:16 C->T NR4A3 novel Non Coding chr9 102590845 A C 4 0 0 A->C NR4A3 novel CDS [520-521 173-174] subst_NONSYNONYMOUS[GAC:D GcC:A c] chr9 102590857 A G 5 0 0 A->G NR4A3 novel CDS [532-533 177-178] subst_NONSYNONYMOUS[AAG:K AgG:R c] chr9 102590946 G A 19 0 0 G->A NR4A3 novel CDS [621-622 207-208] subst_NONSYNONYMOUS[GGC:G aGC:S c] chr9 132428069 G C 4 0 0 G->C PRRX2 novel Non Coding chr9 132428071 T C 4 0 0 T->C PRRX2 novel Non Coding chr9 132428075 A C 4 0 0 A->C PRRX2 novel Non Coding chr9 139401158 C T 46 T:5 C:9 C->T NOTCH1 novel Non Coding chr9 139413211 T G 2 G:7 T:22 T->G NOTCH1 novel CDS [930-931 310-311] subst_NONSYNONYMOUS[ACC:T cCC:P c] chr9 139440167 T G 4 0 0 T->G NOTCH1 novel Non Coding chr9 139440193 C G 4 0 0 C->G NOTCH1 novel CDS [45-46 15-16] subst_NONSYNONYMOUS[GCG:A cCG:P U] chr9 139440196 G C 4 0 0 G->C NOTCH1 novel CDS [42-43 14-15] subst_NONSYNONYMOUS[CCC:P gCC:A U] chr9 139440199 G C 4 0 0 G->C NOTCH1 novel CDS [39-40 13-14] subst_NONSYNONYMOUS[CTG:L gTG:V c] chr9 139440201 A C 4 0 0 A->C NOTCH1 novel CDS [37-38 12-13] subst_NONSYNONYMOUS[CTG:L CgG:R U] chr9 139440272 G C 4 0 0 G->C NOTCH1 novel Non Coding chr9 139440273 C A 4 0 0 C->A NOTCH1 novel Non Coding chr9 139440274 G C 4 0 0 G->C NOTCH1 novel Non Coding