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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DGLUCY_chr14_91109073_91230632 | 91115870 | TCGGCTGG others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01243.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0006a0002c0002t0009others(1): Show | a0001c0001t0006g0044a0002c0002t0006g0042a0002c0002t0009g0043others(2): Show | 5 | 216 | 0.0232 | -9 | c.-82 others(26): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DGLUCY_chr14_91109073_91230632 | 91121609 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00735.hp1 others(40): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0028others(40): Show | 43 | 216 | 0.1991 | -9 | c.-82 others(26): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DGLUCY_chr14_91109073_91230632 | 91189978 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02451.hp1 others(23): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0014a0001c0001t0001g0023a0001c0001t0001g0026others(23): Show | 26 | 216 | 0.1204 | -9 | c.119 others(26): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DHCR24_chr1_54844627_54892195 | 54879322 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0170a0001c0001t0003g0172others(2): Show | 6 | 386 | 0.0155 | -9 | c.388 others(26): Show |
DHCR24 | ENSG00000116133.13 | transcript | ENST00000371269.9 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
DHDDS_chr1_26427321_26476306 | 26472665 | TGCCGCCA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0009 | a0001c0001t0003g0030a0001c0001t0003g0032a0001c0001t0003g0050others(8): Show | 11 | 314 | 0.0350 | -9 | c.*35 others(20): Show |
DHDDS | ENSG00000117682.18 | transcript | ENST00000236342.12 | protein_coding | 1360 | chr1 | TogoVar | ||||||
DHFR_chr5_80621226_80659983 | 80654889 | TGCAGCGG others(2): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02717.hp1 HG02738.hp2 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0019a0001c0001t0032others(1): Show | a0001c0001t0013g0049a0001c0001t0013g0204a0001c0001t0013g0205others(3): Show | 8 | 376 | 0.0213 | -9 | c.-40 others(18): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 1/6 | 401 | chr5 | TogoVar | |||||
DHFR_chr5_80621226_80659983 | 80654908 | GCAGCGCC others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02647.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0057a0001c0001t0012g0058a0001c0001t0012g0059others(1): Show | 4 | 376 | 0.0106 | -9 | c.-42 others(18): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 1/6 | 420 | chr5 | TogoVar | |||||
DHRS11_chr17_36586879_36605804 | 36591164 | TAAAATTA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01361.hp1 HG02809.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 3 | 385 | 0.0078 | -9 | c.-84 others(18): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 714 | chr17 | TogoVar | ||||||
DHRS11_chr17_36586879_36605804 | 36593773 | CAGCTGGC others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01099.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0066a0001c0001t0001g0067others(3): Show | 16 | 385 | 0.0416 | -9 | c.148 others(26): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DHRS12_chr13_51762993_51809163 | 51767776 | TGGGGCGG others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG00741.hp2 others(52): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0009 | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(1): Show | a0001c0001t0001g0060a0001c0001t0001g0081a0001c0001t0001g0100others(41): Show | 55 | 420 | 0.1310 | -9 | c.*40 others(18): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 216 | chr13 | TogoVar | ||||||
DHRS12_chr13_51762993_51809163 | 51802209 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG03927.hp1 HG03927.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0111a0001c0001t0001g0112others(2): Show | 6 | 420 | 0.0143 | -9 | c.-9+ others(24): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 1/8 | chr13 | TogoVar | ||||||
DHRS1_chr14_24285598_24304780 | 24294589 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(84): Show |
a0001 | a0001c0001a0001c0004a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0019a0001c0001t0003g0002a0001c0001t0003g0009others(13): Show | 87 | 414 | 0.2101 | -9 | c.375 others(26): Show |
DHRS1 | ENSG00000157379.14 | transcript | ENST00000288111.12 | protein_coding | 4/8 | chr14 | TogoVar | ||||||
DHRS4_chr14_23948770_23974279 | 23964220 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01168.hp1 others(11): Show |
a0000a0001a0002 | a0000c0004a0001c0001a0001c0003others(2): Show | a0000c0004t0005a0001c0001t0001a0001c0001t0003others(3): Show | a0000c0004t0005g0157a0000c0004t0005g0158a0001c0001t0001g0015others(9): Show | 14 | 267 | 0.0524 | -9 | c.409 others(26): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DHRS7C_chr17_9766438_9796592 | 9786328 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148a0001c0001t0001g0287a0001c0001t0001g0288 | 3 | 424 | 0.0071 | -9 | c.155 others(26): Show |
DHRS7C | ENSG00000184544.12 | transcript | ENST00000571134.2 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
DHRS9_chr2_169064563_169101167 | 169078815 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(94): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0002t0002a0005c0007t0002 | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0084others(83): Show | 97 | 398 | 0.2437 | -9 | c.-59 others(26): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DHRSX_chrX_2214506_2505976 | 2227990 | AGGGAGGG others(2): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0027 | 1 | 50 | 0.0200 | -9 | c.805 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2243785 | CCTGTTTT others(2): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0004 | a0004c0004 | a0004c0004t0009 | a0004c0004t0009g0032 | 1 | 50 | 0.0200 | -9 | c.597 others(24): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2246652 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG02293.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0014 | 1 | 50 | 0.0200 | -9 | c.597 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2249513 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03098.hp1 |
a0004a0010 | a0004c0004a0010c0015 | a0004c0004t0009a0010c0015t0007 | a0004c0004t0009g0032a0010c0015t0007g0036 | 2 | 50 | 0.0400 | -9 | c.597 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2282788 | GAGAGAAG others(2): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG03098.hp1 |
a0004a0010 | a0004c0004a0010c0015 | a0004c0004t0009a0010c0015t0007 | a0004c0004t0009g0032a0010c0015t0007g0036 | 2 | 50 | 0.0400 | -9 | c.388 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2298985 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0007 | a0007c0009 | a0007c0009t0013 | a0007c0009t0013g0005 | 1 | 50 | 0.0200 | -9 | c.287 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2307783 | TAAAAATA others(2): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp1 |
a0004 | a0004c0004a0004c0014 | a0004c0004t0005a0004c0014t0005 | a0004c0004t0005g0009a0004c0014t0005g0007 | 2 | 50 | 0.0400 | -9 | c.287 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2330070 | CGGCGGGG others(2): Show |
C | intron_variant | MODIFIER | HG02004.hp2 HG02922.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0012a0003c0003t0002 | a0001c0001t0012g0027a0003c0003t0002g0043 | 2 | 50 | 0.0400 | -9 | c.287 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2330086 | GGGGGGGG others(2): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01496.hp2 HG02004.hp1 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0003a0003c0003t0002others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0023a0002c0002t0003g0002others(7): Show | 10 | 50 | 0.2000 | -9 | c.287 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2331436 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02071.hp1 HG02630.hp1 HG02647.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0012a0002c0002t0002others(3): Show | a0001c0001t0001g0003a0001c0001t0012g0027a0002c0002t0002g0016others(4): Show | 7 | 50 | 0.1400 | -9 | c.287 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2382618 | CCACCATC others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02630.hp2 HG02717.hp1 others(4): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0012a0004c0004others(4): Show | a0001c0001t0001a0001c0012t0010a0004c0004t0005others(4): Show | a0001c0001t0001g0025a0001c0012t0010g0015a0004c0004t0005g0009others(4): Show | 7 | 50 | 0.1400 | -9 | c.286 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHTKD1_chr10_12063954_12128221 | 12067148 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0005others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0146a0001c0001t0002g0205a0001c0001t0003g0208others(44): Show | 47 | 374 | 0.1257 | -9 | c.-18 others(20): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 1805 | chr10 | TogoVar | ||||||
DHX15_chr4_24522475_24589554 | 24528995 | TAAAAATT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00597.hp2 others(90): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0010 | a0001c0001t0001a0001c0004t0001a0002c0010t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(70): Show | 93 | 374 | 0.2487 | -9 | c.227 others(26): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 13/13 | chr4 | TogoVar | ||||||
DHX8_chr17_43478975_43530670 | 43488288 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(104): Show |
a0001a0002a0004 | a0001c0001a0002c0005a0004c0004 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0013others(86): Show | 107 | 354 | 0.3023 | -9 | c.149 others(26): Show |
DHX8 | ENSG00000067596.12 | transcript | ENST00000262415.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96807944 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG03017.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0038a0001c0001t0002g0039a0001c0001t0009g0099 | 3 | 147 | 0.0204 | -9 | c.447 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96836711 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02809.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0011 | a0001c0001t0003g0006a0001c0001t0006g0005a0001c0001t0011g0002 | 3 | 147 | 0.0204 | -9 | c.448 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96836717 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02717.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0021 | a0001c0002t0001g0015a0001c0002t0021g0076 | 2 | 147 | 0.0136 | -9 | c.448 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96901532 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 147 | 0.0068 | -9 | c.588 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97011891 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0141 | 1 | 147 | 0.0068 | -9 | c.205 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97090298 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 147 | 0.0068 | -9 | c.224 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97157334 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp1 others(55): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0023others(55): Show | 58 | 147 | 0.3946 | -9 | c.271 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97159648 | AGCCACAT others(2): Show |
A | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 147 | 0.0068 | -9 | c.271 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97185305 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02280.hp1 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0068a0001c0001t0001g0087a0001c0001t0004g0147others(1): Show | 4 | 147 | 0.0272 | -9 | c.271 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97185307 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG02257.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0014a0001c0001t0001g0113a0001c0009t0001g0007 | 3 | 147 | 0.0204 | -9 | c.271 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97222172 | AGATGATG others(2): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0143 | 1 | 147 | 0.0068 | -9 | c.272 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97300957 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0021 | a0001c0001t0015g0144a0001c0002t0021g0076 | 2 | 147 | 0.0136 | -9 | c.284 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97308614 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 147 | 0.0068 | -9 | c.284 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97329928 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 147 | 0.0068 | -9 | c.284 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97464297 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 147 | 0.0068 | -9 | c.324 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97506138 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0002g0046 | 2 | 147 | 0.0136 | -9 | c.324 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97540130 | TACTCAGT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02145.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0017a0001c0003t0003 | a0001c0001t0003g0006a0001c0001t0017g0086a0001c0003t0003g0081others(1): Show | 4 | 147 | 0.0272 | -9 | c.324 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97570111 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 147 | 0.0068 | -9 | c.324 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | chrX | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59697459 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01070.hp1 HG01071.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0002c0009others(1): Show | a0001c0001t0001a0002c0004t0001a0002c0004t0002others(2): Show | a0001c0001t0001g0034a0001c0001t0001g0058a0001c0001t0001g0060others(13): Show | 16 | 208 | 0.0769 | -9 | c.332 others(30): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59714359 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01928.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0002c0009others(1): Show | a0001c0001t0001a0002c0004t0001a0002c0004t0002others(2): Show | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(13): Show | 16 | 208 | 0.0769 | -9 | c.332 others(30): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59807600 | GAAAAATG others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0167a0001c0001t0001g0196a0001c0001t0001g0199others(3): Show | 6 | 208 | 0.0289 | -9 | c.316 others(28): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar |