| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ART1_chr11_3640128_3669416 | 3643312 | GCTGA | G | upstream_gene_variant | MODIFIER | HG01943.hp2 HG02922.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0001g0159a0001c0001t0002g0155 | 3 | 394 | 0.0076 | -4 | c.-19 others(15): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1815 | chr11 | TogoVar | ||||||
| ART1_chr11_3640128_3669416 | 3643535 | AAAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp2 others(167): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0009others(148): Show | 170 | 394 | 0.4315 | -4 | c.-16 others(15): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1592 | chr11 | TogoVar | ||||||
| ART1_chr11_3640128_3669416 | 3655325 | TCAGA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(123): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0072a0002c0002t0001g0014a0002c0002t0001g0033others(118): Show | 126 | 394 | 0.3198 | -4 | c.-52 others(21): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ART1_chr11_3640128_3669416 | 3656355 | CTTAT | C | intron_variant | MODIFIER | HG00639.hp2 HG01943.hp2 HG02559.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0001a0002c0004t0002 | a0001c0001t0002g0041a0001c0001t0002g0155a0002c0004t0001g0114others(1): Show | 4 | 394 | 0.0102 | -4 | c.-52 others(21): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ART1_chr11_3640128_3669416 | 3656386 | ATTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(99): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(2): Show | a0002c0002t0001g0014a0002c0002t0001g0033a0002c0002t0001g0036others(94): Show | 102 | 394 | 0.2589 | -4 | c.-52 others(21): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ART3_chr4_76069709_76117786 | 76079931 | CAGAG | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02258.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0028a0001c0001t0001g0034others(16): Show | 25 | 392 | 0.0638 | -4 | c.70- others(19): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ART3_chr4_76069709_76117786 | 76109145 | TCTGA | T | intron_variant | MODIFIER | HG03195.hp2 HG03209.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0095a0001c0001t0001g0096others(1): Show | 4 | 392 | 0.0102 | -4 | c.103 others(23): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ART3_chr4_76069709_76117786 | 76110945 | CGTTA | C | intron_variant | MODIFIER | HG01175.hp1 HG03139.hp2 HG03225.hp1 others(1): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0007 | a0001c0001t0002a0003c0003t0002a0006c0007t0002 | a0001c0001t0002g0225a0001c0001t0002g0229a0003c0003t0002g0259others(1): Show | 4 | 392 | 0.0102 | -4 | c.103 others(23): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ART3_chr4_76069709_76117786 | 76110948 | TAGTA | T | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(79): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0005c0006 | a0002c0002t0003a0002c0002t0006a0004c0004t0003others(2): Show | a0002c0002t0003g0001a0002c0002t0003g0014a0002c0002t0003g0015others(47): Show | 82 | 392 | 0.2092 | -4 | c.103 others(23): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 11/11 | chr4 | TogoVar | ||||||
| ART3_chr4_76069709_76117786 | 76114178 | CAGAT | C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(79): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0005c0006 | a0002c0002t0003a0002c0002t0006a0004c0004t0003others(2): Show | a0002c0002t0003g0001a0002c0002t0003g0014a0002c0002t0003g0015others(47): Show | 82 | 392 | 0.2092 | -4 | c.*16 others(15): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 1393 | chr4 | TogoVar | ||||||
| ART3_chr4_76069709_76117786 | 76114754 | TTAAG | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0016others(64): Show | 84 | 392 | 0.2143 | -4 | c.*22 others(15): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 1969 | chr4 | TogoVar | ||||||
| ART3_chr4_76069709_76117786 | 76117567 | TCTCA | T | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01258.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0248a0002c0002t0002g0033 | 3 | 392 | 0.0077 | -4 | c.*50 others(15): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 4782 | chr4 | TogoVar | ||||||
| ART4_chr12_14820569_14848526 | 14830119 | AGTGT | A | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG01884.hp1 others(11): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0001g0293a0001c0001t0001g0303a0001c0001t0008g0131others(10): Show | 14 | 380 | 0.0368 | -4 | c.854 others(19): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
| ART4_chr12_14820569_14848526 | 14830536 | AGTGT | A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00673.hp2 others(74): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0171a0001c0001t0001g0202a0001c0001t0001g0206others(67): Show | 77 | 380 | 0.2026 | -4 | c.854 others(21): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
| ART4_chr12_14820569_14848526 | 14830649 | GTATA | G | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp2 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0022a0001c0001t0001g0023others(45): Show | 56 | 380 | 0.1474 | -4 | c.854 others(21): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
| ART4_chr12_14820569_14848526 | 14835359 | TCTTA | T | intron_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0023others(1): Show | a0001c0001t0002g0311a0001c0001t0004g0309a0001c0001t0004g0310others(2): Show | 5 | 380 | 0.0132 | -4 | c.853 others(21): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
| ART5_chr11_3633512_3646992 | 3638407 | GAAGT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(315): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0015a0001c0018others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0024others(47): Show | 318 | 454 | 0.7004 | -4 | c.*32 others(13): Show |
ART5 | ENSG00000167311.14 | transcript | ENST00000397068.8 | protein_coding | 104 | chr11 | TogoVar | ||||||
| ART5_chr11_3633512_3646992 | 3640567 | CTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(173): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0024a0001c0001t0001g0108a0001c0001t0002g0002others(36): Show | 176 | 454 | 0.3877 | -4 | c.58- others(17): Show |
ART5 | ENSG00000167311.14 | transcript | ENST00000397068.8 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
| ART5_chr11_3633512_3646992 | 3643312 | GCTGA | G | upstream_gene_variant | MODIFIER | HG01943.hp1 HG02922.hp2 NA19030.hp1 |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0017 | a0001c0001t0005a0002c0002t0001a0013c0017t0001 | a0001c0001t0005g0017a0002c0002t0001g0044a0013c0017t0001g0104 | 3 | 454 | 0.0066 | -4 | c.-14 others(15): Show |
ART5 | ENSG00000167311.14 | transcript | ENST00000397068.8 | protein_coding | 1321 | chr11 | TogoVar | ||||||
| ART5_chr11_3633512_3646992 | 3643535 | AAAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(185): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0015a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0024others(63): Show | 188 | 454 | 0.4141 | -4 | c.-16 others(15): Show |
ART5 | ENSG00000167311.14 | transcript | ENST00000397068.8 | protein_coding | 1544 | chr11 | TogoVar | ||||||
| ARV1_chr1_230974094_231005733 | 230979508 | CGACA | C | intron_variant | MODIFIER | HG02451.hp2 HG02717.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052a0001c0001t0004g0250a0001c0001t0004g0251others(1): Show | 5 | 402 | 0.0124 | -4 | c.174 others(19): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ARV1_chr1_230974094_231005733 | 230983593 | GATGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0022others(47): Show | 63 | 402 | 0.1567 | -4 | c.174 others(21): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ARV1_chr1_230974094_231005733 | 230984359 | TGTGC | T | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02965.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0120a0001c0001t0001g0122a0001c0001t0001g0164others(2): Show | 9 | 402 | 0.0224 | -4 | c.175 others(21): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ARV1_chr1_230974094_231005733 | 230984363 | CGTGT | C | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0036a0001c0001t0001g0085others(4): Show | 9 | 402 | 0.0224 | -4 | c.175 others(21): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ARV1_chr1_230974094_231005733 | 230986668 | ATTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00741.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0018others(8): Show | 38 | 402 | 0.0945 | -4 | c.175 others(21): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ARV1_chr1_230974094_231005733 | 230995600 | CACAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02486.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0120a0001c0001t0001g0122a0001c0001t0001g0123others(5): Show | 12 | 402 | 0.0299 | -4 | c.449 others(19): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ARV1_chr1_230974094_231005733 | 231004534 | AACAC | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(162): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0014others(115): Show | 165 | 402 | 0.4105 | -4 | c.*44 others(15): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 3802 | chr1 | TogoVar | ||||||
| ARX_chrX_24998694_25020965 | 25014137 | TTTTC | T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 300 | 0.0033 | -4 | c.197 others(19): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 1/4 | chrX | TogoVar | ||||||
| ARX_chrX_24998694_25020965 | 25018922 | TTCAC | T | upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 300 | 0.0033 | -4 | c.-31 others(15): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2958 | chrX | TogoVar | ||||||
| AR_chrX_67539021_67735619 | 67562356 | ATGTG | A | intron_variant | MODIFIER | HG03490.hp1 HG03491.hp1 HG03492.hp1 others(1): Show |
a0003a0006a0008 | a0003c0004a0006c0016a0008c0005 | a0003c0004t0001a0006c0016t0002a0008c0005t0003others(1): Show | a0003c0004t0001g0090a0006c0016t0002g0023a0008c0005t0003g0003others(1): Show | 4 | 193 | 0.0207 | -4 | c.161 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67604198 | ATGTG | A | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp1 others(22): Show |
a0001a0004a0006others(16): Show | a0001c0001a0004c0003a0006c0015others(16): Show | a0001c0001t0001a0004c0003t0001a0004c0003t0009others(19): Show | a0001c0001t0001g0008a0004c0003t0001g0109a0004c0003t0009g0080others(22): Show | 25 | 193 | 0.1295 | -4 | c.161 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67624904 | CAAAA | C | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp1 |
a0006a0063 | a0006c0016a0063c0073 | a0006c0016t0031a0063c0073t0067 | a0006c0016t0031g0007a0063c0073t0067g0169 | 2 | 193 | 0.0104 | -4 | c.161 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67628433 | CTGTT | C | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp1 |
a0006a0063 | a0006c0016a0063c0073 | a0006c0016t0031a0063c0073t0067 | a0006c0016t0031g0007a0063c0073t0067g0169 | 2 | 193 | 0.0104 | -4 | c.161 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67666246 | ACTCT | A | intron_variant | MODIFIER | HG06807.hp2 | a0009 | a0009c0013 | a0009c0013t0018 | a0009c0013t0018g0177 | 1 | 193 | 0.0052 | -4 | c.176 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67670341 | ATAAT | A | intron_variant | MODIFIER | HG03453.hp2 | a0012 | a0012c0011 | a0012c0011t0005 | a0012c0011t0005g0122 | 1 | 193 | 0.0052 | -4 | c.176 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67695738 | AACAC | A | intron_variant | MODIFIER | HG01255.hp1 | a0045 | a0045c0045 | a0045c0045t0049 | a0045c0045t0049g0137 | 1 | 193 | 0.0052 | -4 | c.188 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67695807 | ACTCT | A | intron_variant | MODIFIER | HG03486.hp2 | a0011 | a0011c0008 | a0011c0008t0005 | a0011c0008t0005g0158 | 1 | 193 | 0.0052 | -4 | c.188 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67701674 | TCACA | T | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01081.hp2 others(19): Show |
a0003a0009a0010others(14): Show | a0003c0004a0009c0013a0010c0078others(14): Show | a0003c0004t0036a0009c0013t0004a0009c0013t0018others(17): Show | a0003c0004t0036g0170a0009c0013t0004g0184a0009c0013t0018g0177others(19): Show | 22 | 193 | 0.1140 | -4 | c.188 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67710083 | CGTGT | C | intron_variant | MODIFIER | HG00735.hp1 | a0003 | a0003c0004 | a0003c0004t0012 | a0003c0004t0012g0103 | 1 | 193 | 0.0052 | -4 | c.188 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67710102 | TTAGA | T | intron_variant | MODIFIER | NA21309.hp1 | a0065 | a0065c0075 | a0065c0075t0053 | a0065c0075t0053g0018 | 1 | 193 | 0.0052 | -4 | c.188 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3/7 | chrX | TogoVar | ||||||
| AR_chrX_67539021_67735619 | 67720805 | CTTTG | C | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp2 others(6): Show |
a0008a0012a0013others(4): Show | a0008c0005a0012c0011a0013c0012others(4): Show | a0008c0005t0044a0012c0011t0005a0013c0012t0005others(5): Show | a0008c0005t0044g0121a0012c0011t0005g0122a0013c0012t0005g0168others(6): Show | 9 | 193 | 0.0466 | -4 | c.231 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67720879 | TACAC | T | intron_variant | MODIFIER | NA18747.hp1 | a0026 | a0026c0051 | a0026c0051t0001 | a0026c0051t0001g0034 | 1 | 193 | 0.0052 | -4 | c.231 others(21): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67733266 | GGACA | G | downstream_gene_variant | MODIFIER | NA18747.hp1 | a0026 | a0026c0051 | a0026c0051t0001 | a0026c0051t0001g0034 | 1 | 193 | 0.0052 | -4 | c.*94 others(15): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 2648 | chrX | TogoVar | ||||||
| AS3MT_chr10_102864470_102906899 | 102867104 | CAAAA | C | upstream_gene_variant | MODIFIER | HG02055.hp2 NA18941.hp2 NA18943.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0275a0001c0001t0001g0284a0001c0001t0001g0296others(6): Show | 9 | 362 | 0.0249 | -4 | c.-24 others(15): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 2365 | chr10 | TogoVar | ||||||
| AS3MT_chr10_102864470_102906899 | 102879894 | GTATA | G | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01069.hp1 others(84): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0011others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(9): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(81): Show | 87 | 362 | 0.2403 | -4 | c.885 others(19): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| AS3MT_chr10_102864470_102906899 | 102885495 | ATTTT | A | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209a0001c0001t0001g0217a0001c0001t0001g0223others(3): Show | 6 | 362 | 0.0166 | -4 | c.886 others(21): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| AS3MT_chr10_102864470_102906899 | 102888851 | CTATA | C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(73): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0086a0001c0001t0001g0180others(68): Show | 76 | 362 | 0.2099 | -4 | c.886 others(21): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| AS3MT_chr10_102864470_102906899 | 102892985 | AAAAT | A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01069.hp2 others(29): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0205a0001c0001t0001g0216a0001c0001t0001g0254others(29): Show | 32 | 362 | 0.0884 | -4 | c.102 others(23): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| AS3MT_chr10_102864470_102906899 | 102901851 | TTTTC | T | 3_prime_UTR_variant | MODIFIER | HG02135.hp1 HG03834.hp1 NA18940.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0016a0001c0001t0022others(2): Show | a0001c0001t0008g0034a0001c0001t0008g0035a0001c0001t0008g0042others(11): Show | 14 | 362 | 0.0387 | -4 | c.*11 others(15): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 11/11 | 1155 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
| ASAH1_chr8_18050992_18089107 | 18056822 | ACTTC | A | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(136): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(14): Show | a0001c0001t0003g0159a0001c0001t0004g0010a0001c0001t0004g0011others(99): Show | 139 | 420 | 0.3310 | -4 | c.*70 others(13): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 14/14 | 708 | chr8 | TogoVar |