regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TAGGGGAT others(980): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0251 | 1 | 308 | 0.0033 | 987 | c.371 others(1004): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(980): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 | 1 | 308 | 0.0033 | 987 | c.371 others(1004): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(980): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0004 | a0002c0004t0013 | a0002c0004t0013g0139 | 1 | 340 | 0.0029 | 987 | c.227 others(1004): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492455 | T | TCCCCGGG others(980): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0195 | 1 | 295 | 0.0034 | 987 | c.126 others(1006): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492456 | T | TCCGGGGA others(980): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0178 | 1 | 295 | 0.0034 | 987 | c.126 others(1006): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(980): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0055 | 1 | 370 | 0.0027 | 987 | c.438 others(1004): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(980): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01516.hp2 NA20129.hp1 others(1): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0002t0024a0001c0006t0001 | a0001c0002t0002g0122a0001c0002t0002g0123a0001c0002t0024g0013others(1): Show | 4 | 370 | 0.0108 | 987 | c.438 others(1004): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(980): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0175a0001c0001t0019g0078 | 2 | 370 | 0.0054 | 987 | c.438 others(1004): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(980): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 370 | 0.0027 | 987 | c.438 others(1004): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(980): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01496.hp1 HG02602.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0183a0001c0001t0001g0232a0001c0001t0001g0243others(4): Show | 7 | 370 | 0.0189 | 987 | c.438 others(1004): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(980): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0008 | a0008c0020 | a0008c0020t0001 | a0008c0020t0001g0085 | 1 | 334 | 0.0030 | 987 | c.45- others(1002): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(980): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 412 | 0.0049 | 987 | c.-48 others(998): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(980): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 412 | 0.0218 | 987 | c.-48 others(998): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249340 | G | GAGGATGA others(980): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03471.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0043a0001c0005t0001g0049 | 2 | 214 | 0.0094 | 987 | c.206 others(1006): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115639 | G | GGCGAAGG others(980): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0353 | 1 | 444 | 0.0023 | 987 | c.227 others(1006): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115870 | G | GGCGAAGG others(980): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0012 | a0012c0021 | a0012c0021t0002 | a0012c0021t0002g0066 | 1 | 444 | 0.0023 | 987 | c.227 others(1006): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828738 | A | AGGAGGGA others(980): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 94 | 0.0106 | 987 | c.79+ others(1004): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(980): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0077 | 1 | 344 | 0.0029 | 987 | c.327 others(1004): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM63B_chr6_44122554_44160519 | 44146439 | G | GGAGATGT others(980): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00738.hp1 others(34): Show |
a0002 | a0002c0002a0002c0005a0002c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(3): Show | a0002c0002t0001g0038a0002c0002t0002g0043a0002c0002t0002g0044others(28): Show | 37 | 402 | 0.0920 | 987 | c.783 others(1002): Show |
TMEM63B | ENSG00000137216.19 | transcript | ENST00000323267.11 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TMEM63B_chr6_44122554_44160519 | 44146439 | G | GGAGATGT others(980): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0229 | 1 | 402 | 0.0025 | 987 | c.783 others(1002): Show |
TMEM63B | ENSG00000137216.19 | transcript | ENST00000323267.11 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TMEM63B_chr6_44122554_44160519 | 44146439 | G | GGAGATGT others(980): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0200 | 1 | 402 | 0.0025 | 987 | c.783 others(1002): Show |
TMEM63B | ENSG00000137216.19 | transcript | ENST00000323267.11 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TMEM63B_chr6_44122554_44160519 | 44146439 | G | GGAGATGT others(980): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0197 | 1 | 402 | 0.0025 | 987 | c.783 others(1002): Show |
TMEM63B | ENSG00000137216.19 | transcript | ENST00000323267.11 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TMEM63B_chr6_44122554_44160519 | 44146439 | G | GGAGATGT others(980): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0223 | 1 | 402 | 0.0025 | 987 | c.783 others(1002): Show |
TMEM63B | ENSG00000137216.19 | transcript | ENST00000323267.11 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ACAP3_chr1_1287391_1312930 | 1289167 | C | CCGTGTCT others(981): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 295 | 0.0034 | 988 | c.*43 others(999): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3223 | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54561917 | C | CCCCCACC others(981): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0003 | 1 | 388 | 0.0026 | 988 | c.33+ others(1005): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(981): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0176 | 1 | 226 | 0.0044 | 988 | c.217 others(1007): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 384908 | T | TGGGCAAG others(981): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0091 | 2 | 184 | 0.0109 | 988 | c.*31 others(999): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 2792 | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 385643 | C | CTCCCAGG others(981): Show |
downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 184 | 0.0054 | 988 | c.*38 others(999): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 3527 | chr11 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(981): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0234 | 1 | 338 | 0.0030 | 988 | c.300 others(1005): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(981): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0180 | 1 | 242 | 0.0041 | 988 | c.266 others(1005): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(981): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 258 | 0.0039 | 988 | c.403 others(1003): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(981): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 175 | 0.0057 | 988 | c.164 others(1007): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(981): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100 | 1 | 320 | 0.0031 | 988 | c.380 others(1005): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DEAF1_chr11_639233_700222 | 665147 | G | GTCCTGGC others(981): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 345 | 0.0029 | 988 | c.150 others(1007): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(981): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0207 | 1 | 292 | 0.0034 | 988 | c.228 others(1005): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706317 | G | GATACATA others(981): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0185 | 1 | 369 | 0.0027 | 988 | c.-50 others(999): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4883 | chr4 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406031 | G | GTGTCACT others(981): Show |
3_prime_UTR_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0181 | 1 | 276 | 0.0036 | 988 | c.*80 others(997): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 802 | chr2 | TogoVar | |||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(981): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0213 | 1 | 284 | 0.0035 | 988 | c.126 others(1005): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28189465 | G | GAGGGAGG others(981): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0040 | 1 | 62 | 0.0161 | 988 | c.-36 others(1009): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364393 | C | CCTTACAT others(981): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 290 | 0.0035 | 988 | c.129 others(1007): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(981): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0049 | 1 | 256 | 0.0039 | 988 | c.241 others(1007): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(981): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 256 | 0.0039 | 988 | c.241 others(1007): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
PARP10_chr8_143972158_143991460 | 143981746 | A | ATGGTGAT others(981): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0230 | 1 | 380 | 0.0026 | 988 | c.255 others(1007): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(981): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0132 | 1 | 340 | 0.0029 | 988 | c.227 others(1005): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
RBFOX3_chr17_79084345_79616051 | 79483437 | G | GGCCTCCC others(981): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0026 | 1 | 154 | 0.0065 | 988 | c.-31 others(1005): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(981): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 334 | 0.0030 | 988 | c.45- others(1003): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(981): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 412 | 0.0024 | 988 | c.-48 others(999): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(981): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0004 | a0004c0047 | a0004c0047t0066 | a0004c0047t0066g0058 | 1 | 280 | 0.0036 | 988 | c.89- others(1001): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 420 | 0.0024 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0346 | 1 | 420 | 0.0024 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar |