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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGPAT3_chr21_43860223_43992592 | 43990941 | ATGTATG | A | downstream_gene_variant | MODIFIER | HG02683.hp1 HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0040 a0001c0001t0008g0042 a0001c0001t0008g0043 |
3 | 261 | 0.0115 | -6 | c.*85 others(17): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 3350 | chr21 | TogoVar | |||||||
AGPAT3_chr21_43860223_43992592 | 43990984 | TATATAA | T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG03486.hp2 HG03490.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0010a0001c0001t0057others(1): Show | a0001c0001t0001g0113 a0001c0001t0010g0063 a0001c0001t0057g0208 others(2): Show |
5 | 340 | 0.0147 | -6 | c.*85 others(17): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 3393 | chr21 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161170464 | TGCGCGC | T | intron_variant | MODIFIER | NA18952.hp2 NA18956.hp1 NA19004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0102 a0001c0001t0001g0144 others(1): Show |
4 | 169 | 0.0237 | -6 | c.179 others(23): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161170469 | GCGCGCA | G | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02809.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0010a0001c0001t0045a0001c0001t0052others(2): Show | a0001c0001t0010g0012 a0001c0001t0010g0013 a0001c0001t0010g0014 others(7): Show |
10 | 215 | 0.0465 | -6 | c.179 others(23): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161170471 | GCGCACA | G | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00597.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0058 others(43): Show |
46 | 240 | 0.1917 | -6 | c.179 others(23): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161170473 | GCACACA | G | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0032a0001c0003t0077a0001c0003t0078others(2): Show | a0001c0003t0032g0250 a0001c0003t0077g0237 a0001c0003t0078g0236 others(2): Show |
5 | 233 | 0.0215 | -6 | c.179 others(23): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161194560 | GTGTGTA | G | intron_variant | MODIFIER | HG02717.hp2 HG03098.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0044a0001c0001t0055a0001c0005t0056 | a0001c0001t0044g0262 a0001c0001t0055g0030 a0001c0005t0056g0011 |
3 | 262 | 0.0115 | -6 | c.179 others(25): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161233109 | CCACACA | C | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0025others(3): Show | a0001c0001t0001g0233 a0001c0001t0006g0037 a0001c0001t0006g0230 others(4): Show |
7 | 117 | 0.0598 | -6 | c.-89 others(21): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161240221 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG01884.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024a0001c0001t0026others(2): Show | a0001c0001t0001g0054 a0001c0001t0001g0101 a0001c0001t0001g0232 others(4): Show |
7 | 58 | 0.1207 | -6 | c.-89 others(23): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161278923 | ATTTTTT | A | upstream_gene_variant | MODIFIER | HG02083.hp1 HG02109.hp1 HG02523.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0181 a0001c0001t0003g0180 a0001c0001t0005g0179 others(8): Show |
11 | 125 | 0.0880 | -6 | c.-50 others(17): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 4863 | chr6 | TogoVar | |||||||
AGPAT5_chr8_6703642_6766503 | 6707320 | AATATAT | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01071.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0190 others(30): Show |
44 | 83 | 0.5301 | -6 | c.-13 others(17): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 1321 | chr8 | TogoVar | |||||||
AGPAT5_chr8_6703642_6766503 | 6735848 | CCTTTTT | C | intron_variant | MODIFIER | HG01934.hp1 HG02080.hp2 HG02132.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0004g0013 a0001c0001t0004g0020 a0001c0001t0004g0045 others(16): Show |
26 | 295 | 0.0881 | -6 | c.495 others(23): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
AGPAT5_chr8_6703642_6766503 | 6764617 | CACACAT | C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01099.hp1 HG01109.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0001t0023a0001c0003t0014 | a0001c0001t0017g0021 a0001c0001t0023g0021 a0001c0003t0014g0028 |
4 | 402 | 0.0100 | -6 | c.*72 others(17): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 3115 | chr8 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177389754 | ATTTTTT | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(101): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(13): Show | a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 others(101): Show |
104 | 112 | 0.9286 | -6 | c.-30 others(17): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3018 | chr2 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177425622 | GAAAAAA | G | intron_variant | MODIFIER | HG01361.hp1 HG01884.hp2 HG02486.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0023others(1): Show | a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 others(8): Show |
11 | 42 | 0.2619 | -6 | c.350 others(23): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177444475 | GTATAAT | G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02280.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0025a0001c0002t0004others(3): Show | a0001c0001t0004g0094 a0001c0001t0025g0253 a0001c0001t0025g0254 others(14): Show |
17 | 256 | 0.0664 | -6 | c.790 others(23): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177540031 | GTATATA | G | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02602.hp1 HG02698.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0025a0001c0002t0004others(1): Show | a0001c0001t0004g0094 a0001c0001t0025g0253 a0001c0001t0025g0254 others(11): Show |
14 | 242 | 0.0579 | -6 | c.*18 others(17): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 20/20 | 1854 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGPS_chr2_177387773_177548834 | 177540073 | GTATATA | G | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01109.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0016others(3): Show | a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0218 others(13): Show |
16 | 87 | 0.1839 | -6 | c.*18 others(17): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 20/20 | 1894 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGPS_chr2_177387773_177548834 | 177542101 | CTTTTAG | C | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01175.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0052 | a0001c0001t0015g0223 a0001c0001t0015g0224 a0001c0001t0015g0225 others(1): Show |
4 | 256 | 0.0156 | -6 | c.*39 others(17): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 20/20 | 3917 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGR2_chr7_16786811_16809999 | 16791031 | TAGAGGG | T | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02818.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0054 a0001c0001t0005g0078 a0001c0001t0005g0079 others(5): Show |
9 | 135 | 0.0667 | -6 | c.*18 others(17): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 779 | chr7 | TogoVar | |||||||
AGRN_chr1_1015120_1061116 | 1029671 | ATGTGTG | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0004others(18): Show | a0001c0001a0001c0004a0001c0006others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(135): Show |
145 | 188 | 0.7713 | -6 | c.464 others(23): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1029981 | ATGTGTG | A | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001a0021 | a0001c0011a0001c0013a0001c0055others(1): Show | a0001c0011t0006a0001c0013t0008a0001c0013t0010others(2): Show | a0001c0011t0006g0014 a0001c0013t0008g0029 a0001c0013t0010g0015 others(3): Show |
7 | 59 | 0.1186 | -6 | c.464 others(23): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1030376 | CATGTGT | C | intron_variant | MODIFIER | HG01257.hp1 HG02922.hp2 HG03225.hp2 others(1): Show |
a0001a0020 | a0001c0007a0001c0063a0001c0064others(1): Show | a0001c0007t0005a0001c0063t0003a0001c0064t0005others(1): Show | a0001c0007t0005g0175 a0001c0063t0003g0184 a0001c0064t0005g0187 others(1): Show |
4 | 68 | 0.0588 | -6 | c.464 others(23): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | chr1 | TogoVar | |||||||
AGRN_chr1_1015120_1061116 | 1056425 | GCGGGTA | G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(192): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0004others(56): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(68): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(184): Show |
195 | 208 | 0.9375 | -6 | c.*14 others(17): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 310 | chr1 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85599110 | AACACAC | A | intron_variant | MODIFIER | HG00741.hp1 HG01891.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0296 a0001c0002t0003g0285 a0001c0002t0003g0288 others(1): Show |
4 | 64 | 0.0625 | -6 | c.233 others(25): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 17/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85636259 | CTTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00597.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0049 a0001c0001t0001g0050 others(31): Show |
34 | 194 | 0.1753 | -6 | c.130 others(25): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 13/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85668967 | ATGTGTG | A | intron_variant | MODIFIER | HG00408.hp2 HG01106.hp2 HG01123.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0095 others(4): Show |
7 | 131 | 0.0534 | -6 | c.662 others(21): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85728030 | TACACAC | T | intron_variant | MODIFIER | HG02015.hp1 HG02165.hp1 HG02280.hp1 others(10): Show |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0001a0001c0001t0002a0010c0010t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0027 others(10): Show |
13 | 138 | 0.0942 | -6 | c.-34 others(25): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 1/25 | chr9 | TogoVar | |||||||
AGTR1_chr3_148692903_148748003 | 148708113 | CACCATT | C | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0161 a0001c0001t0002g0166 a0001c0001t0002g0167 others(1): Show |
4 | 348 | 0.0115 | -6 | c.-48 others(19): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AGTRAP_chr1_11731136_11755769 | 11736870 | AGTCCGG | A | intron_variant | MODIFIER | HG02723.hp1 HG03540.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 3 | 418 | 0.0072 | -6 | c.27+ others(19): Show |
AGTRAP | ENSG00000177674.16 | transcript | ENST00000314340.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGTRAP_chr1_11731136_11755769 | 11736874 | CGGGTCT | C | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00642.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(24): Show |
77 | 418 | 0.1842 | -6 | c.27+ others(19): Show |
AGTRAP | ENSG00000177674.16 | transcript | ENST00000314340.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGTRAP_chr1_11731136_11755769 | 11742359 | AGAAATG | A | intron_variant | MODIFIER | NA18951.hp2 NA18957.hp2 NA18971.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 7 | 418 | 0.0167 | -6 | c.28- others(21): Show |
AGTRAP | ENSG00000177674.16 | transcript | ENST00000314340.10 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
AGT_chr1_230697523_230719122 | 230701148 | TTGTGTG | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00735.hp1 others(55): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0075 others(24): Show |
58 | 88 | 0.6591 | -6 | c.*19 others(17): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 1374 | chr1 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35011915 | TACACAC | T | intron_variant | MODIFIER | HG01175.hp2 HG01256.hp1 HG01433.hp2 others(54): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0023others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0366 others(50): Show |
57 | 177 | 0.3220 | -6 | c.118 others(25): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 11/13 | chr5 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35028558 | TGAGAGA | T | intron_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01255.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0004others(4): Show | a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0210 others(11): Show |
14 | 33 | 0.4242 | -6 | c.770 others(23): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 7/13 | chr5 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35045764 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(30): Show |
a0001a0003a0007others(2): Show | a0001c0001a0003c0006a0007c0018others(2): Show | a0001c0001t0001a0001c0001t0003a0003c0006t0002others(4): Show | a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 others(27): Show |
33 | 201 | 0.1642 | -6 | c.88+ others(21): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 1/13 | chr5 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246838901 | CTACTGA | C | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02630.hp2 others(10): Show |
a0001 | a0001c0004a0001c0012a0001c0044 | a0001c0004t0002a0001c0004t0008a0001c0004t0020others(2): Show | a0001c0004t0002g0143 a0001c0004t0002g0145 a0001c0004t0002g0146 others(10): Show |
13 | 374 | 0.0348 | -6 | c.*18 others(17): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 196 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246898621 | AACACAC | A | intron_variant | MODIFIER | HG00733.hp2 HG01433.hp1 HG01884.hp1 others(16): Show |
a0001a0003a0006others(1): Show | a0001c0004a0001c0037a0003c0003others(2): Show | a0001c0004t0002a0001c0037t0001a0003c0003t0001others(2): Show | a0001c0004t0002g0021 a0001c0004t0002g0022 a0001c0004t0002g0023 others(16): Show |
19 | 98 | 0.1939 | -6 | c.149 others(23): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 11/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246931478 | CCCGCCG | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp1 others(190): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0007others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(31): Show | a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 others(189): Show |
193 | 319 | 0.6050 | -6 | c.-8+ others(17): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | |||||||
AHCYL1_chr1_109979765_110028742 | 109994445 | TTTTTTG | T | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02965.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0181 others(1): Show |
8 | 348 | 0.0230 | -6 | c.120 others(23): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129243564 | GTTTGTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(105): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0147 others(105): Show |
108 | 290 | 0.3724 | -6 | c.363 others(25): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129398356 | TTTTTTA | T | intron_variant | MODIFIER | HG01123.hp2 HG02273.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0033 a0001c0001t0011g0290 a0001c0001t0011g0291 |
3 | 290 | 0.0103 | -6 | c.823 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27597335 | TTGTGTG | T | intron_variant | MODIFIER | HG02897.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 |
2 | 130 | 0.0154 | -6 | c.-62 others(25): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27599179 | ACAGGGC | A | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp1 others(9): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0019 | a0001c0001t0001a0001c0002t0001a0009c0019t0005 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0056 others(7): Show |
12 | 171 | 0.0702 | -6 | c.-62 others(25): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27608986 | GGTGTGT | G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01069.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(14): Show |
19 | 128 | 0.1484 | -6 | c.-57 others(17): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4843 | chr1 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135324551 | CATATAT | C | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp1 HG01891.hp2 others(25): Show |
a0001a0005a0011 | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(7): Show | a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 others(25): Show |
28 | 92 | 0.3043 | -6 | c.316 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135340654 | CATACAT | C | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01243.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0146 others(18): Show |
21 | 127 | 0.1654 | -6 | c.316 others(27): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135361645 | TCACACA | T | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00639.hp1 others(33): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0018a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0079 a0001c0001t0001g0121 a0001c0001t0001g0122 others(33): Show |
36 | 62 | 0.5806 | -6 | c.311 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135364909 | GAGAGGA | G | intron_variant | MODIFIER | HG01515.hp2 HG02922.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0007 | a0001c0001t0001g0064 a0001c0013t0007g0168 |
2 | 218 | 0.0092 | -6 | c.311 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135364921 | AAGAGGG | A | intron_variant | MODIFIER | HG00733.hp2 HG02145.hp2 HG02258.hp1 others(1): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(1): Show | a0001c0001t0001g0067 a0001c0001t0003g0182 a0001c0001t0017g0036 others(1): Show |
4 | 204 | 0.0196 | -6 | c.311 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar |