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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(989): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG02027.hp1 HG02145.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0002g0003 |
12 | 61 | 0.1967 | 996 | c.*24 others(1007): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(989): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 50 | 0.0200 | 996 | c.*24 others(1007): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(989): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 149 | 0.0067 | 996 | c.129 others(1013): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(989): Show |
intron_variant | MODIFIER | NA18953.hp1 NA19056.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0105 |
3 | 151 | 0.0199 | 996 | c.129 others(1013): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011336 | G | GGGAAGGA others(990): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0004 | a0002c0004t0032 | a0002c0004t0032g0039 | 1 | 204 | 0.0049 | 997 | c.259 others(1018): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TGTATATA others(990): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0125 | 1 | 40 | 0.0250 | 997 | c.118 others(1016): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(990): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0006a0001c0004t0014a0001c0004t0022others(1): Show | a0001c0004t0006g0127 a0001c0004t0014g0128 a0001c0004t0014g0332 others(2): Show |
5 | 332 | 0.0151 | 997 | c.313 others(1012): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(990): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG02738.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(4): Show |
7 | 16 | 0.4375 | 997 | c.327 others(1014): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(990): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 6 | 0.1667 | 997 | c.380 others(1014): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(990): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02976.hp2 |
a0001 | a0001c0006a0001c0031 | a0001c0006t0048a0001c0031t0006 | a0001c0006t0048g0047 a0001c0031t0006g0048 |
2 | 14 | 0.1429 | 997 | c.109 others(1016): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878204 | T | TATATATA others(990): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 201 | 0.0050 | 997 | c.192 others(1016): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63487068 | T | TCCTCCAC others(990): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 349 | 0.0029 | 997 | c.*12 others(1008): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 945 | chr20 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520669 | C | CCACCACG others(990): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0159 | 1 | 268 | 0.0037 | 997 | c.238 others(1018): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574458 | C | CGTGTGGG others(990): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 169 | 0.0059 | 997 | c.119 others(1016): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
INVS_chr9_100094243_100307175 | 100240112 | C | CCAACAAA others(990): Show |
frameshift_variant others(1): Show |
HIGH | HG02056.hp2 | a0005 | a0005c0011 | a0005c0011t0002 | a0005c0011t0002g0103 | 1 | 180 | 0.0056 | 997 | c.668 others(1004): Show |
p.Pro others(5): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 6/17 | 867/4897 | 669/3198 | 223/1065 | chr9 | TogoVar | |||
MRPL28_chr16_361969_375538 | 370296 | C | CCCCCGGC others(990): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 392 | 0.0026 | 997 | c.-7- others(1008): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370296 | C | CCCCCGGC others(990): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0079 | 1 | 374 | 0.0027 | 997 | c.*16 others(1008): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 491 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946849 | G | GGGGATGG others(990): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 245 | 0.0041 | 997 | c.371 others(1014): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(990): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 3 | 0.3333 | 997 | c.159 others(1014): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(990): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 3 | 0.3333 | 997 | c.159 others(1014): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934328 | C | CATATATA others(990): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 303 | 0.0033 | 997 | c.115 others(1014): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(990): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 31 | 0.0323 | 997 | c.638 others(1012): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(990): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0038 | 1 | 87 | 0.0115 | 997 | c.41- others(1014): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(991): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0253 | 1 | 201 | 0.0050 | 998 | c.130 others(1017): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45224526 | G | GGGAGCCC others(991): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0057 | a0001c0003t0057g0055 | 1 | 339 | 0.0029 | 998 | c.*23 others(1009): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(991): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02293.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0025 a0003c0003t0002g0028 |
2 | 45 | 0.0444 | 998 | c.108 others(1015): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(991): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0187 | 1 | 195 | 0.0051 | 998 | c.62+ others(1011): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(991): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0288 | 1 | 328 | 0.0030 | 998 | c.313 others(1013): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(991): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0003 | 1 | 72 | 0.0139 | 998 | c.273 others(1015): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882566 | G | GCGGGGAG others(991): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 139 | 0.0072 | 998 | c.303 others(1017): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882566 | G | GCGGGGAG others(991): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 139 | 0.0072 | 998 | c.303 others(1017): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(991): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 6 | 0.1667 | 998 | c.380 others(1015): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(991): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 6 | 0.1667 | 998 | c.380 others(1015): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(991): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 74 | 0.0135 | 998 | c.937 others(1013): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(991): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 74 | 0.0135 | 998 | c.937 others(1013): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(991): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 74 | 0.0135 | 998 | c.937 others(1013): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(991): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271 | 1 | 74 | 0.0135 | 998 | c.937 others(1013): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(991): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0119 | 1 | 78 | 0.0128 | 998 | c.183 others(1017): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(991): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 78 | 0.0128 | 998 | c.183 others(1017): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 929102 | C | CGCCATTC others(991): Show |
intron_variant | MODIFIER | HG01071.hp2 NA20300.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0006a0002c0001t0011 | a0001c0002t0006g0011 a0002c0001t0011g0002 |
2 | 6 | 0.3333 | 998 | c.73+ others(1015): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635172 | T | TTCCTTCC others(991): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 246 | 0.0041 | 998 | c.105 others(1013): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218186 | C | CCCCAACA others(991): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0003 | 1 | 93 | 0.0108 | 998 | c.*26 others(1009): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1017 | chr8 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(991): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 13 | 0.0769 | 998 | c.978 others(1015): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(991): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0166 | 1 | 2 | 0.5000 | 998 | c.27- others(1013): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(991): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00733.hp1 others(57): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 others(51): Show |
60 | 61 | 0.9836 | 998 | c.27- others(1013): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(991): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02647.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 a0001c0001t0003g0231 a0001c0001t0003g0232 others(2): Show |
7 | 8 | 0.8750 | 998 | c.27- others(1013): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(991): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01070.hp2 others(30): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0180 a0001c0001t0003g0017 a0001c0001t0003g0018 others(28): Show |
33 | 34 | 0.9706 | 998 | c.27- others(1013): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189618 | A | ATATATAT others(991): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 295 | 0.0034 | 998 | c.-5+ others(1013): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25575604 | A | ATTTTTTT others(991): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 a0002c0002t0002g0002 |
2 | 308 | 0.0065 | 998 | c.-12 others(1015): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGGGAT others(991): Show |
intron_variant | MODIFIER | HG00140.hp1 NA20905.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0002a0001c0007t0006 | a0001c0003t0002g0056 a0001c0007t0006g0111 |
2 | 284 | 0.0070 | 998 | c.141 others(1015): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar |