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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALPL_chr1_21504423_21583410 | 21565848 | G | GAGAA | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02258.hp1 others(19): Show |
a0002a0004a0010 | a0002c0002a0002c0020a0004c0006others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(5): Show | a0002c0002t0002g0068 a0002c0002t0002g0105 a0002c0002t0002g0120 others(19): Show |
22 | 368 | 0.0598 | 4 | c.648 others(21): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21576218 | T | TGATG | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0012a0003c0004 | a0001c0001t0004a0001c0012t0004a0003c0004t0005 | a0001c0001t0004g0018 a0001c0001t0004g0113 a0001c0001t0004g0255 others(5): Show |
9 | 351 | 0.0256 | 4 | c.119 others(21): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21579422 | G | GAAAA | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02630.hp1 HG02630.hp2 others(6): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0010 | a0001c0001t0003a0001c0001t0008a0002c0002t0003others(1): Show | a0001c0001t0003g0266 a0001c0001t0003g0313 a0001c0001t0008g0260 others(6): Show |
9 | 15 | 0.6000 | 4 | c.*17 others(15): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1013 | chr1 | TogoVar | |||||||
ALPP_chr2_232373751_232387889 | 232376162 | A | AAAAT | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02615.hp2 others(3): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0008 a0002c0009t0001g0014 a0002c0009t0001g0034 |
6 | 408 | 0.0147 | 4 | c.-26 others(15): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2588 | chr2 | TogoVar | |||||||
ALPP_chr2_232373751_232387889 | 232387292 | C | CGGTT | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02280.hp2 HG03486.hp2 others(4): Show |
a0005 | a0005c0007 | a0005c0007t0004 | a0005c0007t0004g0010 | 7 | 408 | 0.0172 | 4 | c.*54 others(15): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 4404 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201698147 | A | AAGTC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(322): Show |
348 | 352 | 0.9886 | 4 | c.*37 others(15): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 2119 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201758755 | T | TGCGC | intron_variant | MODIFIER | HG01517.hp1 HG01884.hp1 HG02015.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0091 a0001c0002t0001g0123 a0001c0004t0001g0157 |
3 | 346 | 0.0087 | 4 | c.111 others(22): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 4/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201758759 | C | CGCGT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(97): Show |
a0001a0007a0008others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(9): Show | a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0149 others(95): Show |
100 | 345 | 0.2899 | 4 | c.111 others(23): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 4/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201764634 | A | AAAAT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00673.hp2 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0046 a0001c0001t0001g0081 a0001c0001t0001g0208 others(38): Show |
41 | 150 | 0.2733 | 4 | c.175 others(21): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 3/33 | chr2 | TogoVar | |||||||
ALX1_chr12_85275220_85306784 | 85304645 | C | CTGTG | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00609.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(18): Show |
44 | 302 | 0.1457 | 4 | c.*31 others(15): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 2862 | chr12 | TogoVar | |||||||
ALX1_chr12_85275220_85306784 | 85304668 | T | TGTGC | downstream_gene_variant | MODIFIER | HG02071.hp1 HG02071.hp2 HG03017.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(2): Show |
6 | 220 | 0.0273 | 4 | c.*31 others(15): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 2885 | chr12 | TogoVar | |||||||
ALX3_chr1_110054870_110075672 | 110066572 | T | TCCCC | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(69): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0007 | a0001c0001t0001a0003c0005t0001a0004c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(11): Show |
72 | 165 | 0.4364 | 4 | c.278 others(21): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44257293 | A | AACAC | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(63): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(29): Show | a0001c0001t0002g0275 a0001c0001t0004g0196 a0001c0001t0004g0210 others(61): Show |
66 | 292 | 0.2260 | 4 | c.*75 others(15): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 3146 | chr11 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44293099 | A | AGAAG | intron_variant | MODIFIER | HG02071.hp1 HG03704.hp2 NA18953.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0004others(1): Show | a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0002g0262 others(3): Show |
6 | 121 | 0.0496 | 4 | c.466 others(23): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44293170 | A | AGGAG | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01943.hp1 others(8): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0002c0004others(2): Show | a0001c0002t0028a0002c0003t0001a0002c0003t0010others(6): Show | a0001c0002t0028g0356 a0002c0003t0001g0064 a0002c0003t0001g0133 others(8): Show |
11 | 104 | 0.1058 | 4 | c.466 others(23): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44293180 | C | CAGGG | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp2 HG02922.hp1 others(9): Show |
a0001a0004 | a0001c0002a0004c0009a0004c0023others(1): Show | a0001c0002t0013a0001c0002t0052a0004c0009t0007others(6): Show | a0001c0002t0013g0264 a0001c0002t0052g0207 a0004c0009t0007g0171 others(9): Show |
12 | 64 | 0.1875 | 4 | c.466 others(23): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44294828 | C | CTATT | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG02486.hp2 others(23): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0180 others(21): Show |
26 | 59 | 0.4407 | 4 | c.466 others(23): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44314873 | C | CTCCT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(120): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(350): Show |
361 | 383 | 0.9426 | 4 | c.-48 others(15): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 4735 | chr11 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44314979 | C | CCCTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(363): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(122): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(355): Show |
366 | 386 | 0.9482 | 4 | c.-49 others(15): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 4841 | chr11 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44315053 | C | CCCTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(118): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(347): Show |
358 | 386 | 0.9275 | 4 | c.-49 others(15): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 4915 | chr11 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44315065 | T | TCCTC | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02896.hp2 others(2): Show |
a0003 | a0003c0006a0003c0010a0003c0014 | a0003c0006t0024a0003c0010t0001a0003c0010t0048others(1): Show | a0003c0006t0024g0021 a0003c0006t0024g0028 a0003c0010t0001g0017 others(2): Show |
5 | 386 | 0.0130 | 4 | c.-50 others(15): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 4927 | chr11 | TogoVar | |||||||
AMACR_chr5_33981165_34013050 | 34010803 | T | TTAGA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(237): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0010others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0018 a0001c0001t0001g0095 a0001c0001t0001g0107 others(112): Show |
240 | 436 | 0.5505 | 4 | c.-27 others(15): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 2754 | chr5 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70588722 | T | TATAA | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02738.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0129 a0001c0001t0002g0043 |
3 | 248 | 0.0121 | 4 | c.-36 others(15): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3533 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70590506 | G | GCACA | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01167.hp2 HG01891.hp2 others(26): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0048 others(23): Show |
29 | 283 | 0.1025 | 4 | c.-18 others(15): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 1749 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70597956 | C | CTTGT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(95): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0031 others(51): Show |
98 | 476 | 0.2059 | 4 | c.136 others(19): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114064721 | T | TCAAA | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00673.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0081 a0001c0001t0001g0160 a0001c0001t0001g0169 others(16): Show |
24 | 452 | 0.0531 | 4 | c.604 others(21): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AMBP_chr9_114055127_114083300 | 114066376 | C | CGTGT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00609.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0022 others(19): Show |
37 | 40 | 0.9250 | 4 | c.603 others(21): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AMBP_chr9_114055127_114083300 | 114067407 | A | AAAAC | intron_variant | MODIFIER | HG01243.hp1 HG01981.hp1 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009 a0001c0001t0001g0200 a0001c0001t0001g0303 others(2): Show |
11 | 452 | 0.0243 | 4 | c.603 others(21): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AMBP_chr9_114055127_114083300 | 114074632 | C | CTTAG | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00673.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0081 a0001c0001t0001g0160 a0001c0001t0001g0169 others(16): Show |
24 | 452 | 0.0531 | 4 | c.337 others(19): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46425310 | T | TTGTG | intron_variant | MODIFIER | HG00621.hp2 HG02965.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0044 others(3): Show |
6 | 63 | 0.0952 | 4 | c.297 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46445382 | G | GACAA | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 others(5): Show |
8 | 158 | 0.0506 | 4 | c.252 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46459739 | T | TACAC | intron_variant | MODIFIER | HG02572.hp2 NA18972.hp1 NA19082.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0054 a0001c0001t0001g0117 a0001c0002t0002g0149 |
3 | 81 | 0.0370 | 4 | c.252 others(25): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46486908 | C | CATAA | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01884.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0011 | a0001c0001t0001a0001c0003t0001a0003c0011t0001 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0042 others(11): Show |
14 | 65 | 0.2154 | 4 | c.252 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46507176 | C | CAAAA | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 others(5): Show |
8 | 85 | 0.0941 | 4 | c.233 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 9/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46551311 | C | CTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01074.hp2 others(65): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 others(65): Show |
68 | 157 | 0.4331 | 4 | c.-12 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46562736 | G | GAATT | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 others(5): Show |
8 | 158 | 0.0506 | 4 | c.-12 others(25): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMD1_chr6_110869785_110900713 | 110898194 | A | AAGAT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(13): Show |
63 | 364 | 0.1731 | 4 | c.*45 others(15): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 2482 | chr6 | TogoVar | |||||||
AMD1_chr6_110869785_110900713 | 110898198 | G | GATAT | downstream_gene_variant | MODIFIER | HG02258.hp2 HG03195.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0067 a0001c0001t0001g0098 |
3 | 272 | 0.0110 | 4 | c.*45 others(15): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 2486 | chr6 | TogoVar | |||||||
AMDHD1_chr12_95938331_95973720 | 95944327 | T | TTTTA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(151): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(106): Show |
154 | 261 | 0.5900 | 4 | c.137 others(19): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95946059 | C | CTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(110): Show |
a0001a0008 | a0001c0001a0001c0007a0008c0009 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(70): Show |
113 | 271 | 0.4170 | 4 | c.137 others(21): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95946061 | C | CTGTG | intron_variant | MODIFIER | HG00140.hp2 HG02258.hp1 HG02622.hp1 others(8): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0123 others(7): Show |
11 | 181 | 0.0608 | 4 | c.137 others(21): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95954569 | A | AAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(191): Show |
a0001a0002a0008 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(134): Show |
194 | 402 | 0.4826 | 4 | c.245 others(19): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95963389 | G | GCTCC | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG01975.hp1 others(8): Show |
a0001a0007 | a0001c0002a0007c0014 | a0001c0002t0003a0007c0014t0003 | a0001c0002t0003g0016 a0001c0002t0003g0232 a0001c0002t0003g0233 others(6): Show |
11 | 402 | 0.0274 | 4 | c.938 others(19): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2517713 | T | TTGTG | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01070.hp2 HG01081.hp2 others(33): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(12): Show |
36 | 93 | 0.3871 | 4 | c.-27 others(15): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2657 | chr16 | TogoVar | |||||||
AMDHD2_chr16_2515371_2536417 | 2520251 | G | GGGGC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(6): Show |
17 | 293 | 0.0580 | 4 | c.-20 others(13): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 119 | chr16 | TogoVar | |||||||
AMDHD2_chr16_2515371_2536417 | 2533430 | A | ATTTT | downstream_gene_variant | MODIFIER | HG02165.hp1 HG02602.hp2 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show |
10 | 22 | 0.4545 | 4 | c.*38 others(15): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2014 | chr16 | TogoVar | |||||||
AMELX_chrX_11288413_11305761 | 11294242 | G | GTAGA | intron_variant | MODIFIER | HG01175.hp2 HG02723.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 |
3 | 297 | 0.0101 | 4 | c.-12 others(19): Show |
AMELX | ENSG00000125363.14 | transcript | ENST00000380714.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189484 | A | ATGTG | 3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01169.hp1 others(8): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0005a0002c0002t0005a0002c0002t0038 | a0001c0003t0005g0044 a0002c0002t0005g0010 a0002c0002t0005g0025 others(3): Show |
11 | 208 | 0.0529 | 4 | c.*39 others(13): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 394 | chrX | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTATA | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG04204.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0019a0001c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0102 others(2): Show |
5 | 112 | 0.0446 | 4 | c.*36 others(13): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTA | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01975.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0003t0008a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0003t0008g0009 others(1): Show |
6 | 113 | 0.0531 | 4 | c.*36 others(13): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar |