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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALPK2_chr18_58476247_58634091 | 58521625 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 NA18989.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0002c0002t0003a0004c0004t0003 | a0002c0002t0002g0002a0002c0002t0003g0148a0004c0004t0003g0125 | 3 | 320 | 0.0094 | 14 | c.566 others(33): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58521627 | C | CTCTTTTT others(7): Show |
intron_variant | MODIFIER | NA19055.hp1 NA19080.hp1 |
a0004a0064 | a0004c0004a0064c0082 | a0004c0004t0006a0064c0082t0005 | a0004c0004t0006g0033a0064c0082t0005g0175 | 2 | 320 | 0.0063 | 14 | c.566 others(33): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58521627 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00735.hp2 others(9): Show |
a0002a0004a0013others(2): Show | a0002c0002a0002c0014a0004c0004others(3): Show | a0002c0002t0003a0002c0002t0007a0002c0014t0004others(7): Show | a0002c0002t0003g0130a0002c0002t0003g0181a0002c0002t0007g0061others(9): Show | 12 | 320 | 0.0375 | 14 | c.566 others(33): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58556169 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02630.hp1 HG02717.hp2 others(1): Show |
a0002a0006a0040others(1): Show | a0002c0014a0006c0034a0040c0066others(1): Show | a0002c0014t0020a0006c0034t0004a0040c0066t0001others(1): Show | a0002c0014t0020g0089a0006c0034t0004g0247a0040c0066t0001g0273others(1): Show | 4 | 320 | 0.0125 | 14 | c.196 others(35): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58556189 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02145.hp1 HG02258.hp2 others(3): Show |
a0021a0022a0053 | a0021c0033a0022c0022a0053c0074 | a0021c0033t0008a0022c0022t0004a0053c0074t0001 | a0021c0033t0008g0160a0021c0033t0008g0287a0022c0022t0004g0138others(3): Show | 6 | 320 | 0.0188 | 14 | c.196 others(35): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58564123 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00735.hp1 HG04228.hp2 |
a0004a0027 | a0004c0004a0027c0057 | a0004c0004t0021a0027c0057t0012 | a0004c0004t0021g0117a0027c0057t0012g0101 | 2 | 320 | 0.0063 | 14 | c.196 others(35): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58578733 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00738.hp2 others(11): Show |
a0003a0004a0010others(4): Show | a0003c0003a0004c0004a0010c0010others(4): Show | a0003c0003t0001a0003c0003t0004a0003c0003t0005others(8): Show | a0003c0003t0001g0268a0003c0003t0001g0304a0003c0003t0001g0317others(11): Show | 14 | 320 | 0.0438 | 14 | c.196 others(29): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCTCTCAC others(7): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01069.hp2 others(18): Show |
a0002a0004a0005others(10): Show | a0002c0002a0002c0014a0004c0004others(12): Show | a0002c0002t0001a0002c0002t0003a0002c0014t0004others(15): Show | a0002c0002t0001g0126a0002c0002t0003g0129a0002c0002t0003g0130others(18): Show | 21 | 320 | 0.0656 | 14 | c.-82 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCTCTCTC others(7): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00733.hp1 others(29): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0016a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0024a0001c0016t0001others(17): Show | a0001c0001t0001g0256a0001c0001t0024g0299a0001c0016t0001g0288others(29): Show | 32 | 320 | 0.1000 | 14 | c.-82 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84833957 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02523.hp2 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0002a0002c0006t0006 | a0001c0002t0002g0236a0002c0006t0006g0111 | 2 | 340 | 0.0059 | 14 | c.305 others(31): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84838638 | T | TTATTATT others(7): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02027.hp1 HG02040.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0001a0001c0002t0002a0005c0011t0028 | a0001c0001t0001g0037a0001c0001t0001g0103a0001c0001t0001g0104others(9): Show | 12 | 340 | 0.0353 | 14 | c.305 others(29): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84847208 | G | GGAGAGAG others(7): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0007 | a0007c0026 | a0007c0026t0005 | a0007c0026t0005g0070 | 1 | 340 | 0.0029 | 14 | c.165 others(33): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84850879 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02165.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0130a0001c0001t0005g0173 | 2 | 340 | 0.0059 | 14 | c.165 others(33): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84850879 | T | TATACACA others(7): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0008 | a0008c0042 | a0008c0042t0003 | a0008c0042t0003g0267 | 1 | 340 | 0.0029 | 14 | c.165 others(33): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84850879 | T | TATATACA others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00738.hp1 others(32): Show |
a0001a0003a0004others(5): Show | a0001c0004a0003c0005a0004c0007others(5): Show | a0001c0004t0005a0003c0005t0003a0004c0007t0003others(5): Show | a0001c0004t0005g0186a0003c0005t0003g0004a0003c0005t0003g0011others(25): Show | 35 | 340 | 0.1029 | 14 | c.165 others(33): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84850879 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0211 | 1 | 340 | 0.0029 | 14 | c.165 others(33): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21552114 | T | TCCCCTCC others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp1 others(97): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0030a0001c0001t0002g0062a0001c0001t0002g0086others(95): Show | 100 | 370 | 0.2703 | 14 | c.-10 others(33): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232385077 | G | GAAGAGGA others(7): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0005 | a0005c0007 | a0005c0007t0004 | a0005c0007t0004g0010 | 1 | 410 | 0.0024 | 14 | c.*32 others(25): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2189 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201706535 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 354 | 0.0028 | 14 | c.458 others(31): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 29/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201734467 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01070.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(1): Show | a0001c0001t0001g0217a0001c0004t0001g0005a0001c0004t0001g0044others(11): Show | 15 | 354 | 0.0424 | 14 | c.241 others(33): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 12/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201758760 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303a0001c0001t0001g0314 | 2 | 354 | 0.0057 | 14 | c.111 others(33): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 4/33 | chr2 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588670 | A | ACTCCGTC others(7): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 480 | 0.0021 | 14 | c.-36 others(25): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3585 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG02055.hp1 HG03195.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0031a0001c0002t0002g0001a0001c0002t0004g0021others(1): Show | 6 | 480 | 0.0125 | 14 | c.-36 others(25): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTAT others(7): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG00741.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0004t0001g0067others(1): Show | 8 | 480 | 0.0167 | 14 | c.-36 others(25): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01123.hp2 HG03688.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0164others(3): Show | 9 | 480 | 0.0188 | 14 | c.-36 others(25): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 HG02602.hp2 HG02698.hp2 others(12): Show |
a0001a0005a0009others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0054others(7): Show | 15 | 480 | 0.0313 | 14 | c.-36 others(25): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG02135.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0021others(6): Show | 11 | 480 | 0.0229 | 14 | c.-36 others(25): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 HG04184.hp2 NA18944.hp2 others(7): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0076others(6): Show | 10 | 480 | 0.0208 | 14 | c.-36 others(25): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70590956 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG02165.hp1 NA18982.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0031a0001c0002t0002g0001 | 6 | 480 | 0.0125 | 14 | c.-14 others(25): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 1299 | chr4 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114066376 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01106.hp1 others(41): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0002t0001a0004c0007t0001 | a0001c0001t0001g0006a0001c0001t0001g0030a0001c0001t0001g0040others(31): Show | 44 | 454 | 0.0969 | 14 | c.603 others(31): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46419995 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 160 | 0.0063 | 14 | c.297 others(33): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46527477 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01496.hp2 HG02004.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0070a0001c0001t0001g0072others(7): Show | 10 | 160 | 0.0625 | 14 | c.207 others(35): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46552368 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 160 | 0.0063 | 14 | c.-12 others(33): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46569440 | A | AAAAAATA others(7): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 160 | 0.0063 | 14 | c.-12 others(35): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46583677 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 160 | 0.0063 | 14 | c.-12 others(35): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46585695 | A | AAAATATA others(7): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 160 | 0.0063 | 14 | c.-12 others(33): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95946059 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0193 | 1 | 404 | 0.0025 | 14 | c.137 others(31): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95954573 | T | TAAATAAA others(7): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02809.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0014 | a0001c0001t0001g0026a0001c0001t0001g0119a0001c0001t0001g0230others(3): Show | 6 | 404 | 0.0149 | 14 | c.245 others(29): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95964928 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02922.hp1 HG02965.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0003 | a0001c0001t0001g0040a0001c0001t0001g0140a0001c0001t0001g0167others(4): Show | 8 | 404 | 0.0198 | 14 | c.939 others(29): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95971936 | C | CTTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0300 | 1 | 404 | 0.0025 | 14 | c.*40 others(25): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 3217 | chr12 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2516391 | C | CATGAGCC others(7): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 318 | 0.0031 | 14 | c.-40 others(25): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 3979 | chr16 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2533430 | A | ATTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012 | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0048others(2): Show | 18 | 318 | 0.0566 | 14 | c.*38 others(25): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2014 | chr16 | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTGTGT others(7): Show |
3_prime_UTR_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0080 | a0001c0003t0080g0156 | 1 | 243 | 0.0041 | 14 | c.*36 others(23): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | |||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTGTGT others(7): Show |
3_prime_UTR_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0076 | a0001c0003t0076g0162 | 1 | 243 | 0.0041 | 14 | c.*36 others(23): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | |||||
AMER2_chr13_25156679_25177288 | 25159121 | A | ATATTATA others(7): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG00733.hp2 others(40): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(13): Show | a0001c0001t0003g0000a0001c0001t0005g0000a0001c0001t0007g0000others(13): Show | 43 | 416 | 0.1034 | 14 | c.*10 others(27): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2557 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25171521 | C | CCCGGCCT others(7): Show |
frameshift_variant | HIGH | NA20129.hp2 | a0009 | a0009c0008 | a0009c0008t0015 | a0009c0008t0015g0000 | 1 | 416 | 0.0024 | 14 | c.85_ others(19): Show |
p.Ala others(4): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 1/1 | 767/10610 | 98/2016 | 33/671 | chr13 | TogoVar | ||
AMER2_chr13_25156679_25177288 | 25174825 | C | CCTTCCTT others(7): Show |
upstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 416 | 0.0024 | 14 | c.-32 others(25): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2538 | chr13 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56359468 | T | TAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0224a0001c0001t0009g0232 | 2 | 356 | 0.0056 | 14 | c.*34 others(25): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1983 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56359469 | T | TAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0322a0001c0002t0012g0327 | 2 | 356 | 0.0056 | 14 | c.*34 others(25): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1982 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56374410 | A | AAAACAAA others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00639.hp2 others(57): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0177a0001c0001t0001g0285a0001c0001t0003g0239others(57): Show | 60 | 356 | 0.1685 | 14 | c.138 others(33): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 10/13 | chr16 | TogoVar |