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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF438_chr10_30839632_31036865 | 30942656 | T | TAAGAAAT others(4405): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0031 | 1 | 313 | 0.0032 | 4412 | c.-19 others(4431): Show |
ZNF438 | ENSG00000183621.15 | transcript | ENST00000436087.7 | protein_coding | 2/6 | chr10 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4406): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 55 | 0.0182 | 4413 | c.891 others(4428): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
ZNF438_chr10_30839632_31036865 | 30942656 | T | TAAGAAAT others(4406): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0030 | 1 | 313 | 0.0032 | 4413 | c.-19 others(4432): Show |
ZNF438 | ENSG00000183621.15 | transcript | ENST00000436087.7 | protein_coding | 2/6 | chr10 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25543959 | A | AAACACTT others(4407): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03225.hp1 NA19043.hp1 |
a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0236 a0002c0011t0002g0237 a0002c0011t0002g0238 |
3 | 264 | 0.0114 | 4414 | c.-11 others(4433): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25543959 | A | AAACACTT others(4407): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0170 | 1 | 262 | 0.0038 | 4414 | c.-11 others(4433): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404196 | G | GTGTGTGT others(4407): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0101 | 1 | 265 | 0.0038 | 4414 | c.-34 others(4429): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4408): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02886.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0211 a0001c0003t0002g0216 a0001c0003t0002g0217 |
3 | 25 | 0.1200 | 4415 | c.137 others(4432): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4408): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0241 | 1 | 23 | 0.0435 | 4415 | c.137 others(4432): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4408): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0006 | 1 | 23 | 0.0435 | 4415 | c.137 others(4432): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NINL_chr20_25447697_25590531 | 25543959 | A | AAACACTT others(4408): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0235 | 1 | 262 | 0.0038 | 4415 | c.-11 others(4434): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25543959 | A | AAACACTT others(4408): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02486.hp2 HG02818.hp2 others(4): Show |
a0002 | a0002c0008a0002c0022 | a0002c0008t0002a0002c0022t0002 | a0002c0008t0002g0194 a0002c0008t0002g0195 a0002c0008t0002g0196 others(4): Show |
7 | 268 | 0.0261 | 4415 | c.-11 others(4434): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25543959 | A | AAACACTT others(4408): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19057.hp2 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0159 a0003c0003t0004g0180 |
2 | 263 | 0.0076 | 4415 | c.-11 others(4434): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCCTC others(4409): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0021 | 1 | 3 | 0.3333 | 4416 | c.169 others(4433): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NINL_chr20_25447697_25590531 | 25543959 | A | AAACACTT others(4409): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0188 | 1 | 262 | 0.0038 | 4416 | c.-11 others(4435): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25543959 | A | AAACACTT others(4409): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0169 | 1 | 262 | 0.0038 | 4416 | c.-11 others(4435): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25543959 | A | AAACACTT others(4409): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01255.hp2 HG01884.hp2 others(23): Show |
a0002a0003a0008others(1): Show | a0002c0002a0003c0003a0003c0013others(2): Show | a0002c0002t0004a0003c0003t0004a0003c0013t0002others(2): Show | a0002c0002t0004g0174 a0002c0002t0004g0191 a0003c0003t0004g0158 others(23): Show |
26 | 287 | 0.0906 | 4416 | c.-11 others(4435): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4409): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 3 | 0.3333 | 4416 | c.-34 others(4431): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NINL_chr20_25447697_25590531 | 25543959 | A | AAACACTT others(4410): Show |
intron_variant | MODIFIER | NA18980.hp2 NA18985.hp2 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0166 a0003c0003t0004g0190 |
2 | 263 | 0.0076 | 4417 | c.-11 others(4436): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25543959 | A | AAACACTT others(4410): Show |
intron_variant | MODIFIER | NA19091.hp1 NA20300.hp1 |
a0003 | a0003c0003a0003c0013 | a0003c0003t0004a0003c0013t0002 | a0003c0003t0004g0167 a0003c0013t0002g0185 |
2 | 263 | 0.0076 | 4417 | c.-11 others(4436): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418980 | T | TTCCCTCC others(4411): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 228 | 0.0044 | 4418 | c.106 others(4437): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25543959 | A | AAACACTT others(4411): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0173 | 1 | 262 | 0.0038 | 4418 | c.-11 others(4437): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4412): Show |
upstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 8 | 0.1250 | 4419 | c.-45 others(4428): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(4413): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0095 | 1 | 16 | 0.0625 | 4420 | c.164 others(4439): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FAM227A_chr22_38573118_38661392 | 38644337 | A | ACAGAGGA others(4413): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 214 | 0.0047 | 4420 | c.225 others(4437): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(4413): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 225 | 0.0044 | 4420 | c.225 others(4437): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(4413): Show |
intron_variant | MODIFIER | HG03704.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 2 | 226 | 0.0088 | 4420 | c.225 others(4437): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(4413): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 225 | 0.0044 | 4420 | c.225 others(4437): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414460 | G | GGGGAAGG others(4413): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 | 1 | 330 | 0.0030 | 4420 | c.115 others(4437): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
FAM240C_chr2_241888988_241905464 | 241896502 | A | AGGGGGTG others(4414): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 1 | 26 | 0.0385 | 4421 | c.161 others(4436): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4417): Show |
upstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 8 | 0.1250 | 4424 | c.-45 others(4433): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714823 | T | TACCACTG others(4418): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 246 | 0.0041 | 4425 | c.127 others(4442): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(4418): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0037 | 1 | 154 | 0.0065 | 4425 | c.136 others(4442): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(4418): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 154 | 0.0065 | 4425 | c.136 others(4442): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(4418): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 154 | 0.0065 | 4425 | c.136 others(4442): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4418): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0147 | 1 | 23 | 0.0435 | 4425 | c.137 others(4442): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948596 | G | GGGCGTGT others(4419): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 352 | 0.0028 | 4426 | c.114 others(4443): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 315067 | C | TCTGTGCT others(4420): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0060 | 1 | 126 | 0.0079 | 4427 | c.351 others(4444): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 316799 | T | TAGTCCCT others(4420): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0007 | a0007c0014 | a0007c0014t0018 | a0007c0014t0018g0102 | 1 | 128 | 0.0078 | 4427 | c.351 others(4444): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 316799 | T | TAGTCCCT others(4420): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0103 | 1 | 128 | 0.0078 | 4427 | c.351 others(4444): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 316799 | T | TAGTCCCT others(4420): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0060 | 1 | 128 | 0.0078 | 4427 | c.351 others(4444): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4421): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 283 | 0.0035 | 4428 | c.112 others(4445): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432146 | A | AGAGGGTG others(4421): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0284 | 1 | 344 | 0.0029 | 4428 | c.101 others(4445): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(4421): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0313 | 1 | 160 | 0.0063 | 4428 | c.101 others(4445): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4887941 | C | CGTGTCTT others(4422): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 62 | 0.0161 | 4429 | c.*31 others(4440): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2495 | chr19 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(4422): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0067 | 1 | 9 | 0.1111 | 4429 | c.642 others(4446): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4422): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 283 | 0.0035 | 4429 | c.112 others(4446): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 315067 | C | TCTGTGCT others(4423): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0103 | 1 | 126 | 0.0079 | 4430 | c.351 others(4447): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4424): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0043 | a0001c0001t0040g0001 a0001c0001t0043g0007 |
2 | 272 | 0.0074 | 4431 | c.118 others(4450): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4425): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 283 | 0.0035 | 4432 | c.112 others(4449): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
XXYLT1_chr3_195063284_195276159 | 195216424 | T | TAAAGAAA others(4425): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0051 | 1 | 196 | 0.0051 | 4432 | c.652 others(4451): Show |
XXYLT1 | ENSG00000173950.16 | transcript | ENST00000310380.11 | protein_coding | 2/3 | chr3 | TogoVar |