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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NDST4_chr4_114822763_115118620 | 114986830 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03139.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0064a0001c0006t0001g0098 | 2 | 190 | 0.0105 | 18 | c.979 others(35): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
NDST4_chr4_114822763_115118620 | 114986832 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 190 | 0.0053 | 18 | c.979 others(35): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
NDST4_chr4_114822763_115118620 | 114986832 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 190 | 0.0053 | 18 | c.979 others(35): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
NDST4_chr4_114822763_115118620 | 115013346 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02809.hp1 HG03225.hp1 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0008a0003c0017others(1): Show | a0001c0001t0001a0002c0008t0001a0003c0017t0001others(1): Show | a0001c0001t0001g0180a0002c0008t0001g0161a0003c0017t0001g0154others(1): Show | 4 | 190 | 0.0211 | 18 | c.979 others(37): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
NDST4_chr4_114822763_115118620 | 115013370 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00558.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0029a0001c0001t0001g0101a0001c0001t0001g0113others(16): Show | 19 | 190 | 0.1000 | 18 | c.979 others(37): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
NDST4_chr4_114822763_115118620 | 115033157 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0150 | 1 | 190 | 0.0053 | 18 | c.978 others(37): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
NDUFA10_chr2_239952372_240030342 | 239967977 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0029a0001c0001t0006g0303a0001c0001t0006g0306others(2): Show | 6 | 412 | 0.0146 | 18 | c.100 others(37): Show |
NDUFA10 | ENSG00000130414.13 | transcript | ENST00000252711.7 | protein_coding | 9/9 | chr2 | TogoVar | ||||||
NDUFA11_chr19_5889675_5908790 | 5907610 | T | TAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01433.hp1 HG02109.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0040a0001c0001t0001g0092others(2): Show | 7 | 364 | 0.0192 | 18 | c.-39 others(29): Show |
NDUFA11 | ENSG00000174886.14 | transcript | ENST00000308961.5 | protein_coding | 3821 | chr19 | TogoVar | ||||||
NDUFA13_chr19_19511225_19533198 | 19531718 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 380 | 0.0026 | 18 | c.*35 others(29): Show |
NDUFA13 | ENSG00000186010.19 | transcript | ENST00000507754.9 | protein_coding | 3521 | chr19 | TogoVar | ||||||
NDUFA3_chr19_54097855_54112568 | 54105264 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 439 | 0.0023 | 18 | c.86- others(31): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NDUFA4_chr7_10926943_10945153 | 10931637 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 450 | 0.0022 | 18 | c.*19 others(29): Show |
NDUFA4 | ENSG00000189043.10 | transcript | ENST00000339600.6 | protein_coding | 305 | chr7 | TogoVar | ||||||
NDUFA5_chr7_123531997_123562818 | 123540890 | G | GCGCGCAC others(11): Show |
3_prime_UTR_variant | MODIFIER | HG03453.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0262a0001c0001t0042g0263 | 2 | 414 | 0.0048 | 18 | c.*12 others(29): Show |
NDUFA5 | ENSG00000128609.16 | transcript | ENST00000355749.7 | protein_coding | 5/5 | 1228 | chr7 | TogoVar | |||||
NDUFA5_chr7_123531997_123562818 | 123540890 | G | GCGCGCGC others(11): Show |
3_prime_UTR_variant | MODIFIER | NA18967.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0208a0001c0001t0033g0270 | 2 | 414 | 0.0048 | 18 | c.*12 others(29): Show |
NDUFA5 | ENSG00000128609.16 | transcript | ENST00000355749.7 | protein_coding | 5/5 | 1228 | chr7 | TogoVar | |||||
NDUFA6_chr22_42080526_42095772 | 42089327 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 NA21309.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 2 | 403 | 0.0050 | 18 | c.139 others(35): Show |
NDUFA6 | ENSG00000184983.11 | transcript | ENST00000498737.8 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
NDUFAB1_chr16_23576014_23601316 | 23584255 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02965.hp2 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0203a0001c0001t0001g0242 | 3 | 360 | 0.0083 | 18 | c.379 others(35): Show |
NDUFAB1 | ENSG00000004779.10 | transcript | ENST00000007516.8 | protein_coding | 3/4 | chr16 | TogoVar | ||||||
NDUFAF2_chr5_60940205_61158026 | 61040284 | A | ACGCGCGC others(11): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0158 | 1 | 266 | 0.0038 | 18 | c.128 others(37): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF2_chr5_60940205_61158026 | 61040286 | A | ACACGCGC others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0193 | 1 | 266 | 0.0038 | 18 | c.128 others(37): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF2_chr5_60940205_61158026 | 61056919 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 266 | 0.0038 | 18 | c.128 others(37): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF2_chr5_60940205_61158026 | 61056919 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02886.hp2 HG04115.hp2 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0172a0001c0002t0001g0176a0001c0002t0001g0180 | 3 | 266 | 0.0113 | 18 | c.128 others(37): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF2_chr5_60940205_61158026 | 61107044 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0052 | 2 | 266 | 0.0075 | 18 | c.258 others(35): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF2_chr5_60940205_61158026 | 61107046 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18612.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0122a0001c0001t0001g0124others(1): Show | 4 | 266 | 0.0150 | 18 | c.258 others(35): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF2_chr5_60940205_61158026 | 61136005 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00673.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0032others(8): Show | 11 | 266 | 0.0414 | 18 | c.259 others(37): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF2_chr5_60940205_61158026 | 61147437 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18964.hp2 NA19068.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0034others(1): Show | 4 | 266 | 0.0150 | 18 | c.259 others(35): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF7_chr2_37226658_37254160 | 37249558 | G | GACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0023 | 1 | 432 | 0.0023 | 18 | c.*12 others(29): Show |
NDUFAF7 | ENSG00000003509.16 | transcript | ENST00000002125.9 | protein_coding | 399 | chr2 | TogoVar | ||||||
NDUFAF7_chr2_37226658_37254160 | 37249643 | G | GACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG02293.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0005a0003c0003t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0005g0026a0003c0003t0003g0011others(3): Show | 7 | 432 | 0.0162 | 18 | c.*12 others(29): Show |
NDUFAF7 | ENSG00000003509.16 | transcript | ENST00000002125.9 | protein_coding | 484 | chr2 | TogoVar | ||||||
NDUFAF7_chr2_37226658_37254160 | 37249643 | G | GACAGACA others(11): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0008 | 2 | 432 | 0.0046 | 18 | c.*12 others(29): Show |
NDUFAF7 | ENSG00000003509.16 | transcript | ENST00000002125.9 | protein_coding | 484 | chr2 | TogoVar | ||||||
NDUFAF7_chr2_37226658_37254160 | 37252847 | T | TTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 432 | 0.0023 | 18 | c.*44 others(29): Show |
NDUFAF7 | ENSG00000003509.16 | transcript | ENST00000002125.9 | protein_coding | 3688 | chr2 | TogoVar | ||||||
NDUFB11_chrX_47137216_47149702 | 47144446 | A | ACCCCCCC others(11): Show |
intron_variant | MODIFIER | HG03688.hp1 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 2 | 274 | 0.0073 | 18 | c.207 others(31): Show |
NDUFB11 | ENSG00000147123.12 | transcript | ENST00000377811.4 | protein_coding | 1/2 | chrX | TogoVar | ||||||
NDUFB3_chr2_201067001_201090750 | 201076484 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00741.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0120a0001c0001t0001g0143others(1): Show | 5 | 332 | 0.0151 | 18 | c.-2- others(33): Show |
NDUFB3 | ENSG00000119013.10 | transcript | ENST00000237889.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NDUFB5_chr3_179599794_179632647 | 179624572 | T | TACACACA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01361.hp1 HG01928.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015a0001c0001t0042others(1): Show | a0001c0001t0005g0001a0001c0001t0005g0015a0001c0001t0005g0021others(9): Show | 19 | 366 | 0.0519 | 18 | c.*54 others(27): Show |
NDUFB5 | ENSG00000136521.13 | transcript | ENST00000259037.8 | protein_coding | 6/6 | 565 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
NDUFC2_chr11_78063297_78084862 | 78078728 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01258.hp2 HG01943.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0036a0001c0001t0001g0059others(13): Show | 19 | 420 | 0.0452 | 18 | c.166 others(33): Show |
NDUFC2 | ENSG00000151366.13 | transcript | ENST00000281031.5 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
NDUFS1_chr2_206109817_206164444 | 206122629 | C | CAAAAAAA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG03225.hp1 |
a0001 | a0001c0004 | a0001c0004t0074a0001c0004t0075 | a0001c0004t0074g0043a0001c0004t0075g0053 | 2 | 336 | 0.0060 | 18 | c.*15 others(29): Show |
NDUFS1 | ENSG00000023228.15 | transcript | ENST00000233190.11 | protein_coding | 19/19 | 1555 | chr2 | TogoVar | |||||
NDUFS1_chr2_206109817_206164444 | 206140941 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0185 | 1 | 336 | 0.0030 | 18 | c.126 others(36): Show |
NDUFS1 | ENSG00000023228.15 | transcript | ENST00000233190.11 | protein_coding | 12/18 | chr2 | TogoVar | ||||||
NDUFS1_chr2_206109817_206164444 | 206140943 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01433.hp1 HG01433.hp2 others(21): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007a0001c0002t0012others(7): Show | a0001c0002t0003g0022a0001c0002t0003g0180a0001c0002t0003g0184others(18): Show | 24 | 336 | 0.0714 | 18 | c.126 others(35): Show |
NDUFS1 | ENSG00000023228.15 | transcript | ENST00000233190.11 | protein_coding | 12/18 | chr2 | TogoVar | ||||||
NDUFS1_chr2_206109817_206164444 | 206140943 | T | TATACACA others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0014a0001c0002t0032others(3): Show | a0001c0002t0003g0252a0001c0002t0014g0216a0001c0002t0014g0226others(4): Show | 7 | 336 | 0.0208 | 18 | c.126 others(35): Show |
NDUFS1 | ENSG00000023228.15 | transcript | ENST00000233190.11 | protein_coding | 12/18 | chr2 | TogoVar | ||||||
NDUFS1_chr2_206109817_206164444 | 206140943 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0004 | a0001c0004t0076 | a0001c0004t0076g0040 | 1 | 336 | 0.0030 | 18 | c.126 others(35): Show |
NDUFS1 | ENSG00000023228.15 | transcript | ENST00000233190.11 | protein_coding | 12/18 | chr2 | TogoVar | ||||||
NDUFS2_chr1_161197367_161219395 | 161214269 | C | CTGTGTGT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0005 | 2 | 438 | 0.0046 | 18 | c.*90 others(26): Show |
NDUFS2 | ENSG00000158864.13 | transcript | ENST00000676972.1 | protein_coding | 14/14 | 108 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
NDUFS2_chr1_161197367_161219395 | 161216411 | C | CACACACA others(11): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0001 | 1 | 438 | 0.0023 | 18 | c.*22 others(29): Show |
NDUFS2 | ENSG00000158864.13 | transcript | ENST00000676972.1 | protein_coding | 2017 | chr1 | TogoVar | ||||||
NDUFS6_chr5_1796407_1821048 | 1799784 | T | TCCCTTAC others(11): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0011others(51): Show | 154 | 444 | 0.3469 | 18 | c.-16 others(29): Show |
NDUFS6 | ENSG00000145494.12 | transcript | ENST00000274137.10 | protein_coding | 1622 | chr5 | TogoVar | ||||||
NDUFS6_chr5_1796407_1821048 | 1799789 | T | TACCCGGC others(11): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(27): Show | 92 | 444 | 0.2072 | 18 | c.-16 others(29): Show |
NDUFS6 | ENSG00000145494.12 | transcript | ENST00000274137.10 | protein_coding | 1617 | chr5 | TogoVar | ||||||
NDUFS8_chr11_68025681_68041644 | 68030111 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027a0001c0001t0003g0068 | 2 | 408 | 0.0049 | 18 | c.-62 others(27): Show |
NDUFS8 | ENSG00000110717.13 | transcript | ENST00000313468.10 | protein_coding | 569 | chr11 | TogoVar | ||||||
NDUFV2_chr18_9097699_9139341 | 9137220 | C | CCCGCCCG others(11): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 368 | 0.0027 | 18 | c.*29 others(29): Show |
NDUFV2 | ENSG00000178127.13 | transcript | ENST00000318388.11 | protein_coding | 2880 | chr18 | TogoVar | ||||||
NEBL_chr10_20774973_20902311 | 20814609 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0079 | 1 | 338 | 0.0030 | 18 | c.224 others(35): Show |
NEBL | ENSG00000078114.19 | transcript | ENST00000377122.9 | protein_coding | 22/27 | chr10 | TogoVar | ||||||
NEBL_chr10_20774973_20902311 | 20896483 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02572.hp2 NA18990.hp2 |
a0001a0002 | a0001c0003a0001c0006a0002c0002 | a0001c0003t0001a0001c0006t0008a0002c0002t0003 | a0001c0003t0001g0014a0001c0006t0008g0305a0002c0002t0003g0013 | 3 | 338 | 0.0089 | 18 | c.153 others(33): Show |
NEBL | ENSG00000078114.19 | transcript | ENST00000377122.9 | protein_coding | 2/27 | chr10 | TogoVar | ||||||
NEBL_chr10_20774973_20902311 | 20896487 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0170 | 1 | 338 | 0.0030 | 18 | c.153 others(33): Show |
NEBL | ENSG00000078114.19 | transcript | ENST00000377122.9 | protein_coding | 2/27 | chr10 | TogoVar | ||||||
NEB_chr2_151480339_151739476 | 151550947 | A | AATTATTA others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03654.hp1 NA20129.hp1 |
a0035a0050a0103 | a0035c0146a0050c0099a0103c0066 | a0035c0146t0001a0050c0099t0001a0103c0066t0001 | a0035c0146t0001g0103a0050c0099t0001g0098a0103c0066t0001g0065 | 3 | 188 | 0.0160 | 18 | c.199 others(37): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 129/181 | chr2 | TogoVar | ||||||
NECAB1_chr8_90786775_90964393 | 90906874 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0127 | 1 | 248 | 0.0040 | 18 | c.358 others(37): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NECAB1_chr8_90786775_90964393 | 90907145 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0175 | 1 | 248 | 0.0040 | 18 | c.358 others(37): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NECAB1_chr8_90786775_90964393 | 90907149 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 248 | 0.0040 | 18 | c.358 others(37): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NECAB1_chr8_90786775_90964393 | 90917870 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02055.hp2 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0046others(1): Show | a0001c0001t0001g0006a0001c0001t0006g0145a0001c0001t0046g0138others(1): Show | 4 | 248 | 0.0161 | 18 | c.494 others(33): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |