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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALS2CL_chr3_46663995_46698679 | 46684407 | C | CACT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(250): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0002a0001c0005others(24): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0003others(55): Show | a0001c0001t0004g0052 a0001c0002t0001g0007 a0001c0002t0001g0061 others(133): Show |
253 | 388 | 0.6521 | 3 | c.787 others(18): Show |
ALS2CL | ENSG00000178038.17 | transcript | ENST00000318962.9 | protein_coding | 7/25 | chr3 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201716542 | C | CAAA | intron_variant | MODIFIER | HG00597.hp2 HG01175.hp2 HG02080.hp1 others(8): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(2): Show | a0001c0003t0001g0042 a0001c0003t0002g0162 a0001c0003t0002g0163 others(8): Show |
11 | 143 | 0.0769 | 3 | c.383 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 24/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201720539 | C | CAAA | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00741.hp1 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004 | a0001c0003t0002g0088 a0001c0003t0002g0162 a0001c0003t0002g0171 others(10): Show |
13 | 41 | 0.3171 | 3 | c.370 others(22): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 23/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201772278 | T | TAAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(182): Show |
a0001a0003a0006others(7): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(19): Show | a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0149 others(174): Show |
185 | 339 | 0.5457 | 3 | c.-60 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 1/33 | chr2 | TogoVar | |||||||
ALX3_chr1_110054870_110075672 | 110062645 | G | GTGT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(73): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0002a0005c0009t0002 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(17): Show |
76 | 244 | 0.3115 | 3 | c.595 others(20): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
ALX3_chr1_110054870_110075672 | 110066572 | T | TCCC | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00639.hp2 others(84): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 others(20): Show |
87 | 180 | 0.4833 | 3 | c.278 others(20): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
AMACR_chr5_33981165_34013050 | 33991726 | T | TTTA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00597.hp1 others(123): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0107 others(52): Show |
126 | 187 | 0.6738 | 3 | c.740 others(20): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
AMBP_chr9_114055127_114083300 | 114060315 | A | ACTC | intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 a0001c0001t0002g0181 |
3 | 452 | 0.0066 | 3 | c.102 others(18): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
AMBP_chr9_114055127_114083300 | 114063048 | A | AAAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(104): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(63): Show |
107 | 452 | 0.2367 | 3 | c.604 others(18): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46400473 | G | GTTT | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02622.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0001c0001t0009a0003c0011t0001 | a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0095 others(6): Show |
9 | 21 | 0.4286 | 3 | c.340 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 17/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46401260 | A | AGAC | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00673.hp1 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(9): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(73): Show |
76 | 158 | 0.4810 | 3 | c.340 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 17/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46516423 | C | CTTT | intron_variant | MODIFIER | HG01361.hp2 HG01496.hp2 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0072 others(3): Show |
6 | 90 | 0.0667 | 3 | c.207 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46551348 | T | TATC | intron_variant | MODIFIER | HG02258.hp1 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0150 a0001c0002t0002g0151 |
2 | 158 | 0.0127 | 3 | c.-12 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46552368 | C | CAAA | intron_variant | MODIFIER | HG01192.hp2 HG02145.hp2 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 others(5): Show |
8 | 15 | 0.5333 | 3 | c.-12 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46569438 | A | ATAT | intron_variant | MODIFIER | HG02723.hp2 HG03130.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0078 others(1): Show |
4 | 153 | 0.0261 | 3 | c.-12 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMD1_chr6_110869785_110900713 | 110885418 | T | TTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(108): Show |
294 | 392 | 0.7500 | 3 | c.111 others(20): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110898196 | A | AGAT | downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0104 a0001c0001t0002g0105 |
3 | 298 | 0.0101 | 3 | c.*45 others(14): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 2484 | chr6 | TogoVar | |||||||
AMDHD1_chr12_95938331_95973720 | 95969741 | C | CTTT | downstream_gene_variant | MODIFIER | HG03688.hp2 HG03831.hp2 HG04115.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0103 others(7): Show |
10 | 179 | 0.0559 | 3 | c.*18 others(14): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1022 | chr12 | TogoVar | |||||||
AMDHD2_chr16_2515371_2536417 | 2517713 | T | TGTG | upstream_gene_variant | MODIFIER | HG02071.hp1 HG02155.hp1 HG02155.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(1): Show |
4 | 61 | 0.0656 | 3 | c.-27 others(14): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2657 | chr16 | TogoVar | |||||||
AMELX_chrX_11288413_11305761 | 11304777 | C | CTTT | downstream_gene_variant | MODIFIER | HG01175.hp2 HG02004.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 others(3): Show |
6 | 221 | 0.0271 | 3 | c.*41 others(14): Show |
AMELX | ENSG00000125363.14 | transcript | ENST00000380714.7 | protein_coding | 4017 | chrX | TogoVar | |||||||
AMELY_chrY_6860918_6916752 | 6871960 | A | AAAC | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 128 | 0.0078 | 3 | c.54+ others(16): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 3/6 | chrY | TogoVar | |||||||
AMELY_chrY_6860918_6916752 | 6888867 | C | CAAA | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 14 | 0.0714 | 3 | c.-11 others(24): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | |||||||
AMER1_chrX_64180117_64210708 | 64183005 | T | TCTA | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00738.hp1 others(71): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0017others(5): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0004others(23): Show | a0001c0001t0001g0001 a0001c0003t0002g0039 a0001c0003t0002g0046 others(43): Show |
74 | 241 | 0.3071 | 3 | c.*68 others(14): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2111 | chrX | TogoVar | |||||||
AMER1_chrX_64180117_64210708 | 64189536 | A | ATAT | 3_prime_UTR_variant | MODIFIER | HG02647.hp1 HG02723.hp1 HG02896.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0013 a0002c0002t0002g0023 |
3 | 239 | 0.0126 | 3 | c.*34 others(12): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 342 | chrX | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189538 | A | ATAT | 3_prime_UTR_variant | MODIFIER | HG02622.hp1 HG02717.hp1 HG02818.hp2 others(4): Show |
a0002a0009 | a0002c0002a0009c0011 | a0002c0002t0002a0002c0002t0031a0009c0011t0002 | a0002c0002t0002g0013 a0002c0002t0002g0027 a0002c0002t0002g0035 others(3): Show |
7 | 225 | 0.0311 | 3 | c.*33 others(12): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 340 | chrX | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25169107 | G | GTTT | 3_prime_UTR_variant | MODIFIER | HG01256.hp1 HG01358.hp1 HG01934.hp1 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0011a0002c0002t0013a0002c0002t0017others(2): Show | a0002c0002t0011g0000 a0002c0002t0013g0000 a0002c0002t0017g0000 others(2): Show |
17 | 395 | 0.0430 | 3 | c.*49 others(12): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 1/1 | 496 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174477 | G | GTCA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00642.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 others(16): Show |
51 | 335 | 0.1522 | 3 | c.-28 others(14): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2190 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174782 | T | TTCC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG01517.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(1): Show |
6 | 315 | 0.0190 | 3 | c.-31 others(14): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2495 | chr13 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56366377 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01081.hp1 others(48): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0003g0230 others(48): Show |
51 | 131 | 0.3893 | 3 | c.159 others(22): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 12/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406132 | A | AGGG | intron_variant | MODIFIER | HG00558.hp1 HG02135.hp1 HG03654.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0202 a0001c0001t0010g0203 a0001c0001t0010g0204 others(3): Show |
6 | 354 | 0.0169 | 3 | c.667 others(18): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56409725 | G | GAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(87): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0173 a0001c0001t0001g0201 a0001c0001t0001g0234 others(87): Show |
90 | 188 | 0.4787 | 3 | c.349 others(18): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
AMHR2_chr12_53418855_53436672 | 53426982 | C | CAAA | intron_variant | MODIFIER | HG02080.hp1 HG03492.hp2 NA18951.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0010 a0001c0001t0002g0026 a0001c0001t0002g0027 others(1): Show |
8 | 246 | 0.0325 | 3 | c.852 others(20): Show |
AMHR2 | ENSG00000135409.11 | transcript | ENST00000257863.9 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMIGO3_chr3_49711829_49724684 | 49720159 | T | TACA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(12): Show |
180 | 332 | 0.5422 | 3 | c.-69 others(12): Show |
AMIGO3 | ENSG00000176020.9 | transcript | ENST00000320431.8 | protein_coding | 476 | chr3 | TogoVar | |||||||
AMMECR1L_chr2_127856630_127890956 | 127890184 | C | CAAA | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02135.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0030 a0001c0001t0002g0103 a0001c0001t0002g0144 others(9): Show |
13 | 170 | 0.0765 | 3 | c.-45 others(14): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 4229 | chr2 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31670449 | T | TTTG | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(75): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0038 others(70): Show |
78 | 430 | 0.1814 | 3 | c.*18 others(14): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 692 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31674784 | T | TGAG | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0273 a0001c0002t0001g0321 a0001c0002t0007g0274 others(1): Show |
4 | 430 | 0.0093 | 3 | c.704 others(20): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31686530 | C | CATT | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001a0001c0002t0007 | a0001c0001t0005g0371 a0001c0001t0005g0372 a0001c0001t0005g0373 others(6): Show |
9 | 430 | 0.0209 | 3 | c.703 others(20): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31694442 | C | CAAA | intron_variant | MODIFIER | HG02300.hp2 HG03942.hp2 HG04228.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0142 others(5): Show |
8 | 106 | 0.0755 | 3 | c.591 others(20): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 5/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31699395 | C | CAAA | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00733.hp1 others(50): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 others(49): Show |
53 | 73 | 0.7260 | 3 | c.317 others(20): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31730453 | A | AAAG | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(277): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(250): Show |
280 | 401 | 0.6983 | 3 | c.-14 others(14): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1433 | chr12 | TogoVar | |||||||
AMN_chr14_102917663_102935842 | 102935764 | C | CAAA | downstream_gene_variant | MODIFIER | HG00733.hp1 HG02818.hp2 HG03098.hp1 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0026 a0001c0001t0002g0005 a0001c0001t0002g0026 others(4): Show |
7 | 352 | 0.0199 | 3 | c.*50 others(14): Show |
AMN | ENSG00000166126.11 | transcript | ENST00000299155.10 | protein_coding | 4923 | chr14 | TogoVar | |||||||
AMOTL1_chr11_94763356_94881748 | 94803325 | T | TAAA | intron_variant | MODIFIER | HG01074.hp2 HG02602.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0092 |
3 | 244 | 0.0123 | 3 | c.112 others(22): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94864250 | C | CAAT | intron_variant | MODIFIER | HG00558.hp2 HG01106.hp2 HG01515.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0007t0005others(1): Show | a0001c0001t0001g0038 a0001c0002t0002g0168 a0001c0007t0005g0044 others(1): Show |
4 | 177 | 0.0226 | 3 | c.213 others(20): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94880989 | T | TTTG | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02647.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0195 a0001c0001t0017g0204 a0001c0001t0017g0205 |
3 | 244 | 0.0123 | 3 | c.*10 others(16): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 4242 | chr11 | TogoVar | |||||||
AMOTL2_chr3_134350347_134379447 | 134377961 | A | AAAG | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01109.hp1 others(15): Show |
a0001a0002a0013 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0004 a0001c0001t0002g0028 a0001c0001t0004g0015 others(11): Show |
18 | 334 | 0.0539 | 3 | c.-36 others(14): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 3515 | chr3 | TogoVar | |||||||
AMOT_chrX_112769877_112845831 | 112779069 | C | CAGG | conservative_inframe_insertion | MODERATE | HG00639.hp2 HG01081.hp1 HG01192.hp1 others(6): Show |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0007 a0002c0003t0007g0012 a0002c0003t0007g0015 others(6): Show |
9 | 268 | 0.0336 | 3 | c.308 others(12): Show |
p.Pro others(7): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 13/14 | 3752/7613 | 3084/3255 | 1028/1084 | chrX | TogoVar | |||
AMPD1_chr1_114668098_114700546 | 114681526 | T | TGGA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(171): Show |
a0001a0007a0010others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(89): Show |
174 | 356 | 0.4888 | 3 | c.548 others(20): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 5/15 | chr1 | TogoVar | |||||||
AMPD3_chr11_10450264_10512579 | 10458254 | T | TAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(117): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(19): Show | a0001c0001t0001g0027 a0001c0001t0001g0176 a0001c0001t0001g0222 others(108): Show |
120 | 236 | 0.5085 | 3 | c.-6+ others(18): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10505375 | C | CAGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(374): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0027 others(344): Show |
377 | 388 | 0.9716 | 3 | c.212 others(20): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38392377 | C | CTTT | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01884.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0161 a0001c0001t0003g0281 a0001c0001t0004g0006 others(12): Show |
15 | 16 | 0.9375 | 3 | c.160 others(20): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 18/20 | chr7 | TogoVar |