view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CYLC1_chrX_83856146_83891698 | 83878206 | T | TATATAAA others(1071): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 205 | 0.0049 | 1078 | c.192 others(1097): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933088 | A | AGGAATGA others(1071): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0001 | a0002c0001t0148 | a0002c0001t0148g0306 | 1 | 384 | 0.0026 | 1078 | c.198 others(1095): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1071): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0230 | a0002c0230t0001 | a0002c0230t0001g0187 | 1 | 98 | 0.0102 | 1078 | c.118 others(1097): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438444 | A | AGGAGGAG others(1071): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0239 | 1 | 246 | 0.0041 | 1078 | c.118 others(1097): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619512 | T | TCCCTGCC others(1071): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 183 | 0.0055 | 1078 | c.-10 others(1097): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1071): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0390 | 1 | 96 | 0.0104 | 1078 | c.119 others(1097): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1071): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02145.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0035 | a0001c0001t0001g0235 a0001c0001t0014g0388 a0001c0001t0035g0389 |
3 | 98 | 0.0306 | 1078 | c.119 others(1097): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1071): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 96 | 0.0104 | 1078 | c.119 others(1097): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1071): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0195 | 1 | 96 | 0.0104 | 1078 | c.119 others(1097): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
GOLGA6D_chr15_75277835_75300530 | 75299921 | A | ATATATAC others(1071): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0018 | a0018c0022 | a0018c0022t0014 | a0018c0022t0014g0143 | 1 | 232 | 0.0043 | 1078 | c.*54 others(1089): Show |
GOLGA6D | ENSG00000140478.17 | transcript | ENST00000434739.4 | protein_coding | 4392 | chr15 | TogoVar | |||||||
GRIN3A_chr9_101564352_101743647 | 101617080 | G | GTCCCAGC others(1071): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0286 | 1 | 322 | 0.0031 | 1078 | c.261 others(1097): Show |
GRIN3A | ENSG00000198785.7 | transcript | ENST00000361820.6 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322714 | T | TATGGAAT others(1071): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0055 | 1 | 238 | 0.0042 | 1078 | c.-23 others(1089): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2255 | chr21 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(1071): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02723.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0082a0001c0001t0084others(1): Show | a0001c0001t0026g0015 a0001c0001t0082g0124 a0001c0001t0084g0091 others(1): Show |
4 | 127 | 0.0315 | 1078 | c.*65 others(1089): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
LEO1_chr15_51933025_51976778 | 51972555 | C | CGCTCACG others(1071): Show |
upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 204 | 0.0049 | 1078 | c.-81 others(1087): Show |
LEO1 | ENSG00000166477.13 | transcript | ENST00000299601.10 | protein_coding | 778 | chr15 | TogoVar | |||||||
LEO1_chr15_51933025_51976778 | 51972592 | G | GGCGGGCG others(1071): Show |
upstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0309 | 1 | 386 | 0.0026 | 1078 | c.-84 others(1087): Show |
LEO1 | ENSG00000166477.13 | transcript | ENST00000299601.10 | protein_coding | 815 | chr15 | TogoVar | |||||||
MAN2B2_chr4_6570189_6628362 | 6579259 | C | CCACCACC others(1071): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0288 | 1 | 308 | 0.0032 | 1078 | c.391 others(1093): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(1071): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0164 | 1 | 6 | 0.1667 | 1078 | c.100 others(1097): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1071): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00735.hp1 others(26): Show |
a0003a0008a0015others(12): Show | a0003c0033a0008c0012a0008c0013others(19): Show | a0003c0033t0001a0008c0012t0001a0008c0013t0001others(19): Show | a0003c0033t0001g0112 a0003c0033t0001g0113 a0008c0012t0001g0028 others(26): Show |
29 | 130 | 0.2231 | 1078 | c.252 others(1097): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1071): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 135 | 0.0074 | 1078 | c.*31 others(1089): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(1071): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 2 | 0.5000 | 1078 | c.162 others(1097): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1071): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 67 | 0.0149 | 1078 | c.306 others(1097): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP2R1B_chr11_111732877_111771389 | 111746202 | T | TAGAATGA others(1071): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 |
a0001 | a0001c0003 | a0001c0003t0039 | a0001c0003t0039g0053 | 2 | 356 | 0.0056 | 1078 | c.139 others(1097): Show |
PPP2R1B | ENSG00000137713.16 | transcript | ENST00000527614.6 | protein_coding | 11/14 | chr11 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242487 | C | CTACCTTC others(1071): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 117 | 0.0085 | 1078 | c.613 others(1095): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934328 | C | CATATATA others(1071): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 303 | 0.0033 | 1078 | c.115 others(1095): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(1071): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180 a0001c0001t0003g0181 |
2 | 39 | 0.0513 | 1078 | c.280 others(1097): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1071): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 28 | 0.0357 | 1078 | c.113 others(1097): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(1071): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146 | 1 | 8 | 0.1250 | 1078 | c.657 others(1093): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1071): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 277 | 0.0036 | 1078 | c.129 others(1095): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670515 | C | CCCGTGCA others(1071): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 385 | 0.0026 | 1078 | c.129 others(1095): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159129910 | T | TGGGGGGT others(1071): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0086 | 1 | 309 | 0.0032 | 1078 | c.151 others(1097): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21377660 | A | ACGTGACC others(1071): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 277 | 0.0036 | 1078 | c.*40 others(1095): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0012 | a0012c0029 | a0012c0029t0002 | a0012c0029t0002g0276 | 1 | 53 | 0.0189 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01192.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0151 a0001c0003t0001g0183 a0001c0003t0001g0185 others(4): Show |
7 | 59 | 0.1186 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02723.hp2 others(8): Show |
a0001a0011 | a0001c0003a0011c0024 | a0001c0003t0001a0001c0003t0004a0011c0024t0001 | a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0180 others(8): Show |
11 | 63 | 0.1746 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 53 | 0.0189 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp1 others(90): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0005others(13): Show | a0001c0002t0001a0001c0002t0006a0001c0003t0001others(15): Show | a0001c0002t0001g0011 a0001c0002t0001g0090 a0001c0002t0001g0091 others(90): Show |
93 | 145 | 0.6414 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 53 | 0.0189 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 53 | 0.0189 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01358.hp2 HG01433.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 others(1): Show |
4 | 56 | 0.0714 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(124): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(124): Show |
127 | 179 | 0.7095 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG02896.hp1 others(2): Show |
a0001a0010 | a0001c0001a0010c0019 | a0001c0001t0003a0010c0019t0003 | a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 others(2): Show |
5 | 57 | 0.0877 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43524176 | A | AAACAGTC others(1072): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0007 | 1 | 53 | 0.0189 | 1079 | c.613 others(1096): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1072): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0037 | 1 | 30 | 0.0333 | 1079 | c.505 others(1098): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7864069 | C | CCATTCCC others(1072): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0054 a0001c0001t0027g0072 |
2 | 211 | 0.0095 | 1079 | c.225 others(1096): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7864069 | C | CCATTCCC others(1072): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0009 | a0001c0009t0042 | a0001c0009t0042g0229 | 1 | 210 | 0.0048 | 1079 | c.225 others(1096): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72114242 | T | TGGGAAGG others(1072): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0024 | 1 | 97 | 0.0103 | 1079 | c.245 others(1096): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(1072): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 174 | 0.0057 | 1079 | c.342 others(1100): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(1072): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0160 | 1 | 6 | 0.1667 | 1079 | c.380 others(1096): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1072): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0112 | a0112c0043 | a0112c0043t0001 | a0112c0043t0001g0075 | 1 | 98 | 0.0102 | 1079 | c.118 others(1098): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438441 | A | AGGAGGAG others(1072): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0085 | a0085c0045 | a0085c0045t0001 | a0085c0045t0001g0109 | 1 | 250 | 0.0040 | 1079 | c.118 others(1098): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar |