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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMBRA1_chr11_46391414_46599023 | 46513265 | TTTC | T | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp2 HG01884.hp1 others(15): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0010 | a0001c0002t0002a0001c0004t0001a0003c0010t0002 | a0001c0002t0002g0013a0001c0002t0002g0047a0001c0002t0002g0101others(15): Show | 18 | 160 | 0.1125 | -3 | c.207 others(20): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46533255 | ATTG | A | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01074.hp2 others(35): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0005a0004c0006t0001 | a0001c0001t0001g0023a0001c0001t0001g0032a0001c0001t0001g0033others(35): Show | 38 | 160 | 0.2375 | -3 | c.207 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46552368 | CAAA | C | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 HG02258.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0003t0004a0001c0004t0001 | a0001c0002t0002g0013a0001c0002t0002g0147a0001c0002t0002g0150others(3): Show | 6 | 160 | 0.0375 | -3 | c.-12 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46569428 | TAAA | T | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01074.hp2 others(30): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0005a0004c0006t0001 | a0001c0001t0001g0023a0001c0001t0001g0032a0001c0001t0001g0033others(30): Show | 33 | 160 | 0.2063 | -3 | c.-12 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46569439 | AAAT | A | intron_variant | MODIFIER | HG01361.hp2 HG02280.hp2 HG02965.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(4): Show | 7 | 160 | 0.0438 | -3 | c.-12 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46569441 | ATAT | A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0135others(7): Show | 10 | 160 | 0.0625 | -3 | c.-12 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46585696 | ATAT | A | intron_variant | MODIFIER | HG02559.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0133a0001c0002t0002g0152 | 2 | 160 | 0.0125 | -3 | c.-12 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110886222 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(101): Show | 286 | 394 | 0.7259 | -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 | 110891396 | TATA | T | intron_variant | MODIFIER | NA18947.hp2 NA18962.hp2 NA18977.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038a0001c0001t0002g0040a0001c0001t0002g0102 | 5 | 394 | 0.0127 | -3 | c.428 others(18): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AMD1_chr6_110869785_110900713 | 110899071 | CTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(141): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0006a0001c0001t0002g0007others(42): Show | 144 | 394 | 0.3655 | -3 | c.*54 others(14): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 3359 | chr6 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2533430 | ATTT | A | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01978.hp2 HG02074.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0016others(2): Show | 8 | 318 | 0.0252 | -3 | c.*38 others(14): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2014 | chr16 | TogoVar | ||||||
AMELX_chrX_11288413_11305761 | 11302277 | GTAC | G | downstream_gene_variant | MODIFIER | NA19055.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0034 | 1 | 300 | 0.0033 | -3 | c.*16 others(14): Show |
AMELX | ENSG00000125363.14 | transcript | ENST00000380714.7 | protein_coding | 1517 | chrX | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6871960 | AAAC | A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 131 | 0.0076 | -3 | c.54+ others(16): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 3/6 | chrY | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6912829 | CAAA | C | upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 131 | 0.0076 | -3 | c.-12 others(14): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1078 | chrY | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64185948 | TCAA | T | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02451.hp1 |
a0002 | a0002c0002 | a0002c0002t0091a0002c0002t0092a0002c0002t0093 | a0002c0002t0091g0071a0002c0002t0092g0075a0002c0002t0093g0072 | 3 | 243 | 0.0124 | -3 | c.*39 others(14): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 3928 | chrX | TogoVar | |||||
AMER1_chrX_64180117_64210708 | 64189535 | TATA | T | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG02280.hp1 HG02572.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0049a0001c0003t0054a0002c0002t0025 | a0001c0003t0049g0053a0001c0003t0054g0076a0002c0002t0025g0055others(1): Show | 4 | 243 | 0.0165 | -3 | c.*34 others(12): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 341 | chrX | TogoVar | |||||
AMER2_chr13_25156679_25177288 | 25174477 | GTCA | G | upstream_gene_variant | MODIFIER | NA18959.hp1 NA18974.hp2 NA20129.hp2 |
a0001a0006a0009 | a0001c0001a0006c0011a0009c0008 | a0001c0001t0002a0006c0011t0002a0009c0008t0015 | a0001c0001t0002g0000a0006c0011t0002g0000a0009c0008t0015g0000 | 3 | 416 | 0.0072 | -3 | c.-28 others(14): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2190 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174764 | TCCC | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00597.hp2 others(125): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(34): Show | 128 | 416 | 0.3077 | -3 | c.-31 others(14): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2477 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174789 | CCTT | C | upstream_gene_variant | MODIFIER | HG01358.hp2 HG03486.hp2 HG04199.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0038a0001c0001t0079 | a0001c0001t0014g0000a0001c0001t0038g0000a0001c0001t0079g0000 | 4 | 416 | 0.0096 | -3 | c.-31 others(14): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2502 | chr13 | TogoVar | ||||||
AMER3_chr2_130750540_130773134 | 130758146 | AAAC | A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01884.hp1 others(5): Show |
a0001a0017 | a0001c0001a0017c0012 | a0001c0001t0007a0001c0001t0013a0001c0001t0014others(1): Show | a0001c0001t0007g0007a0001c0001t0013g0007a0001c0001t0014g0013others(1): Show | 8 | 360 | 0.0222 | -3 | c.-20 others(20): Show |
AMER3 | ENSG00000178171.12 | transcript | ENST00000321420.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AMER3_chr2_130750540_130773134 | 130766483 | CTTT | C | 3_prime_UTR_variant | MODIFIER | HG01175.hp1 HG02145.hp2 HG02897.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0016a0004c0004t0004a0004c0004t0045 | a0001c0001t0016g0004a0001c0001t0016g0011a0004c0004t0004g0005others(2): Show | 12 | 360 | 0.0333 | -3 | c.*18 others(14): Show |
AMER3 | ENSG00000178171.12 | transcript | ENST00000321420.5 | protein_coding | 2/2 | 1848 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
AMFR_chr16_56356452_56430545 | 56367916 | CCTT | C | intron_variant | MODIFIER | HG01109.hp1 HG03579.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0038 | a0001c0001t0003g0254a0001c0001t0003g0260a0001c0001t0038g0140 | 3 | 356 | 0.0084 | -3 | c.151 others(20): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 11/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56382509 | TAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00673.hp1 others(56): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0164a0001c0001t0001g0175a0001c0001t0004g0189others(56): Show | 59 | 356 | 0.1657 | -3 | c.138 others(22): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56402334 | AAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(258): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(47): Show | a0001c0001t0001g0157a0001c0001t0001g0159a0001c0001t0001g0160others(258): Show | 261 | 356 | 0.7332 | -3 | c.975 others(18): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56404037 | CTTT | C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0235a0001c0001t0001g0236a0001c0001t0001g0237others(3): Show | 6 | 356 | 0.0169 | -3 | c.840 others(18): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 6/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56406067 | AGAG | A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00741.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0010 | a0001c0001t0007g0047a0001c0001t0009g0215a0001c0001t0009g0217others(2): Show | 5 | 356 | 0.0140 | -3 | c.667 others(18): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56406552 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0234a0001c0001t0001g0235a0001c0001t0001g0236others(73): Show | 76 | 356 | 0.2135 | -3 | c.667 others(20): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
AMHR2_chr12_53418855_53436672 | 53421325 | CAAA | C | upstream_gene_variant | MODIFIER | HG01175.hp1 HG02145.hp2 HG02257.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0003a0001c0001t0002g0010a0001c0001t0002g0030others(3): Show | 17 | 356 | 0.0478 | -3 | c.-26 others(14): Show |
AMHR2 | ENSG00000135409.11 | transcript | ENST00000257863.9 | protein_coding | 2529 | chr12 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109513895 | CAAA | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(64): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0002a0001c0001t0003g0003a0001c0001t0004g0004others(3): Show | 67 | 400 | 0.1675 | -3 | c.-45 others(14): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 4169 | chr1 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47075344 | GTGA | G | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01167.hp2 HG01169.hp1 others(36): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0002a0001c0001t0005g0006a0001c0001t0006g0008others(1): Show | 39 | 480 | 0.0813 | -3 | c.*20 others(14): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 1102 | chr12 | TogoVar | ||||||
AMMECR1L_chr2_127856630_127890956 | 127878511 | GCAA | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(88): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0020others(3): Show | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0012others(62): Show | 91 | 334 | 0.2725 | -3 | c.-38 others(20): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
AMMECR1_chrX_110189186_110323085 | 110215839 | TCTC | T | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 155 | 0.0065 | -3 | c.699 others(18): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 3/5 | chrX | TogoVar | ||||||
AMMECR1_chrX_110189186_110323085 | 110230982 | TAAA | T | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 155 | 0.0065 | -3 | c.585 others(22): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31678362 | CAAG | C | intron_variant | MODIFIER | NA18969.hp1 NA18994.hp2 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0265 | 3 | 432 | 0.0069 | -3 | c.704 others(20): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31707005 | AGAT | A | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056a0001c0001t0003g0057a0001c0001t0003g0077others(4): Show | 7 | 432 | 0.0162 | -3 | c.171 others(20): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31724460 | TTCA | T | intron_variant | MODIFIER | NA18940.hp2 NA18974.hp1 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124a0001c0001t0002g0131a0001c0001t0002g0248 | 3 | 432 | 0.0069 | -3 | c.38+ others(18): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
AMN_chr14_102917663_102935842 | 102919147 | CTTT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01071.hp2 HG01081.hp2 others(30): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(20): Show | 33 | 452 | 0.0730 | -3 | c.-35 others(14): Show |
AMN | ENSG00000166126.11 | transcript | ENST00000299155.10 | protein_coding | 3515 | chr14 | TogoVar | ||||||
AMN_chr14_102917663_102935842 | 102935074 | TCAC | T | downstream_gene_variant | MODIFIER | HG03688.hp2 NA18973.hp1 NA18978.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0073a0001c0001t0001g0091 | 4 | 452 | 0.0089 | -3 | c.*43 others(14): Show |
AMN | ENSG00000166126.11 | transcript | ENST00000299155.10 | protein_coding | 4233 | chr14 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94764220 | TGTA | T | upstream_gene_variant | MODIFIER | HG02615.hp1 HG03139.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0154a0001c0001t0009g0155a0001c0001t0009g0156 | 3 | 246 | 0.0122 | -3 | c.-42 others(14): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 4135 | chr11 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94766095 | AAAC | A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01123.hp2 others(69): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(18): Show | a0001c0001t0003g0202a0001c0001t0004g0015a0001c0001t0004g0199others(65): Show | 72 | 246 | 0.2927 | -3 | c.-24 others(14): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 2260 | chr11 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94792232 | ACAC | A | intron_variant | MODIFIER | HG01074.hp1 HG03195.hp1 NA18522.hp1 |
a0001a0009 | a0001c0001a0009c0015 | a0001c0001t0001a0009c0015t0010 | a0001c0001t0001g0217a0001c0001t0001g0219a0009c0015t0010g0218 | 3 | 246 | 0.0122 | -3 | c.50- others(18): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL1_chr11_94763356_94881748 | 94846348 | TAAC | T | intron_variant | MODIFIER | HG00738.hp2 HG01346.hp1 HG01943.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0045a0001c0001t0007g0094a0001c0001t0007g0130others(3): Show | 6 | 246 | 0.0244 | -3 | c.164 others(22): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL1_chr11_94763356_94881748 | 94856452 | GGTC | G | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02615.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011a0001c0001t0020others(4): Show | a0001c0001t0009g0010a0001c0001t0009g0154a0001c0001t0009g0155others(14): Show | 18 | 246 | 0.0732 | -3 | c.194 others(22): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94864250 | CAAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00642.hp1 others(62): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(24): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0046others(59): Show | 65 | 246 | 0.2642 | -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 | 94875619 | ATCC | A | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG02258.hp1 others(26): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0009a0001c0001t0011a0001c0001t0013others(10): Show | a0001c0001t0009g0010a0001c0001t0009g0154a0001c0001t0009g0155others(25): Show | 29 | 246 | 0.1179 | -3 | c.*48 others(14): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 13/13 | 4832 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
AMOTL2_chr3_134350347_134379447 | 134378229 | AACT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(140): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0008others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0020others(85): Show | 143 | 336 | 0.4256 | -3 | c.-39 others(14): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 3783 | chr3 | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112773618 | CAAT | C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0012a0001c0001t0010g0024a0001c0001t0010g0048others(2): Show | 5 | 270 | 0.0185 | -3 | c.*49 others(14): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 1258 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112781443 | CAAA | C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0017 | 1 | 270 | 0.0037 | -3 | c.224 others(20): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 11/13 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112835586 | CTTT | C | intron_variant | MODIFIER | NA19003.hp2 NA19072.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0164a0001c0002t0002g0132 | 2 | 270 | 0.0074 | -3 | c.-28 others(22): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 1/13 | chrX | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38378822 | CTTT | C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01168.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0004a0001c0002t0002a0001c0005t0004others(1): Show | a0001c0001t0004g0086a0001c0002t0002g0192a0001c0005t0004g0013others(4): Show | 7 | 288 | 0.0243 | -3 | c.*59 others(14): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 4881 | chr7 | TogoVar |