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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALPK3_chr15_84812356_84878479 | 84850879 | TACAC | T | intron_variant | MODIFIER | HG01346.hp1 HG02145.hp1 HG02647.hp2 others(4): Show |
a0001a0018 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0004others(1): Show | a0001c0001t0001g0109a0001c0002t0002g0010a0001c0002t0002g0215others(2): Show | 7 | 340 | 0.0206 | -4 | c.165 others(23): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84877865 | TGATA | T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(114): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0021others(105): Show | 117 | 340 | 0.3441 | -4 | c.*94 others(15): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 4387 | chr15 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21507918 | CATAA | C | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01192.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0003a0002c0002t0005a0002c0002t0016others(1): Show | a0001c0001t0003g0272a0002c0002t0005g0274a0002c0002t0005g0275others(2): Show | 5 | 370 | 0.0135 | -4 | c.-17 others(15): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1504 | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21533934 | AAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(209): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0054a0001c0001t0002g0001a0001c0001t0002g0023others(208): Show | 212 | 370 | 0.5730 | -4 | c.-10 others(25): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21554788 | CCTGT | C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01167.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0018a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0023a0001c0001t0002g0034a0001c0001t0002g0050others(16): Show | 19 | 370 | 0.0514 | -4 | c.61+ others(17): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21554815 | GTCTT | G | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0005 | a0001c0003t0002g0071a0001c0003t0005g0082a0001c0003t0005g0117others(2): Show | 5 | 370 | 0.0135 | -4 | c.61+ others(17): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21554910 | TTTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(214): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0019a0002c0002others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0073a0001c0001t0002g0197a0001c0001t0002g0220others(214): Show | 217 | 370 | 0.5865 | -4 | c.61+ others(17): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21561666 | CTTTT | C | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp2 HG01891.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0003g0002a0001c0001t0004g0162a0001c0001t0004g0163others(9): Show | 13 | 370 | 0.0351 | -4 | c.297 others(19): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21576287 | GTGGA | G | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG03209.hp1 others(4): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0003a0002c0002t0003a0007c0010t0003 | a0001c0001t0003g0266a0002c0002t0003g0112a0002c0002t0003g0172others(4): Show | 7 | 370 | 0.0189 | -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 | 21581981 | CATAT | C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01261.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004a0001c0001t0004g0029a0001c0001t0004g0038others(12): Show | 15 | 370 | 0.0405 | -4 | c.*43 others(15): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 3572 | chr1 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232380801 | GGGCA | G | intron_variant | MODIFIER | HG00558.hp1 HG02280.hp2 HG03486.hp2 others(4): Show |
a0005 | a0005c0007 | a0005c0007t0004 | a0005c0007t0004g0010 | 7 | 410 | 0.0171 | -4 | c.100 others(19): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALS2_chr2_201695267_201785933 | 201711861 | CCTAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(325): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(305): Show | 328 | 354 | 0.9266 | -4 | c.400 others(21): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 25/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201728834 | AAAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00597.hp2 others(59): Show |
a0001a0005a0009 | a0001c0003a0005c0012a0009c0015 | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(3): Show | a0001c0003t0001g0173a0001c0003t0002g0008a0001c0003t0002g0009others(55): Show | 62 | 354 | 0.1751 | -4 | c.271 others(21): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 14/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201748650 | CTTTG | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
a0001a0003a0006others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(15): Show | a0001c0001t0001g0038a0001c0001t0001g0046a0001c0001t0001g0080others(118): Show | 124 | 354 | 0.3503 | -4 | c.181 others(23): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 8/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201764634 | AAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp1 others(98): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0001g0015a0001c0001t0001g0205a0001c0001t0001g0207others(89): Show | 101 | 354 | 0.2853 | -4 | c.175 others(21): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 3/33 | chr2 | TogoVar | ||||||
ALX1_chr12_85275220_85306784 | 85304674 | CGTGT | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0050others(2): Show | 10 | 384 | 0.0260 | -4 | c.*32 others(15): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 2891 | chr12 | TogoVar | ||||||
ALX3_chr1_110054870_110075672 | 110066227 | GGTCA | G | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0034a0001c0001t0005g0169 | 4 | 422 | 0.0095 | -4 | c.278 others(21): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44293099 | AGAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(78): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0180a0001c0001t0001g0219a0001c0001t0001g0272others(78): Show | 81 | 388 | 0.2088 | -4 | c.466 others(23): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44294828 | CTATT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(136): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0016others(56): Show | a0001c0001t0001g0269a0001c0001t0001g0347a0001c0001t0001g0364others(135): Show | 139 | 388 | 0.3583 | -4 | c.466 others(23): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44297009 | CAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01243.hp2 HG02572.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0029others(6): Show | a0001c0001t0004a0001c0002t0007a0001c0002t0013others(13): Show | a0001c0001t0004g0329a0001c0001t0004g0330a0001c0002t0007g0264others(17): Show | 20 | 388 | 0.0516 | -4 | c.466 others(23): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
AMACR_chr5_33981165_34013050 | 33985071 | ACATT | A | downstream_gene_variant | MODIFIER | NA18955.hp2 NA18960.hp1 NA18992.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003a0002c0002t0002g0023a0002c0002t0002g0067 | 7 | 438 | 0.0160 | -4 | c.*40 others(15): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 1093 | chr5 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588675 | GTCTC | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG02451.hp2 others(5): Show |
a0001a0007a0008others(2): Show | a0001c0001a0001c0004a0007c0010others(3): Show | a0001c0001t0001a0001c0004t0001a0007c0010t0001others(3): Show | a0001c0001t0001g0003a0001c0004t0001g0200a0007c0010t0001g0190others(5): Show | 8 | 480 | 0.0167 | -4 | c.-36 others(15): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3580 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70590506 | GCACA | G | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01257.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0010 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0042a0001c0001t0001g0062others(4): Show | 9 | 480 | 0.0188 | -4 | c.-18 others(15): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 1749 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70597364 | CAAAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(38): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0035others(18): Show | 41 | 480 | 0.0854 | -4 | c.135 others(19): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AMBP_chr9_114055127_114083300 | 114062116 | CCCTT | C | intron_variant | MODIFIER | HG00597.hp2 NA18747.hp1 NA18953.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0162a0001c0001t0001g0301 | 5 | 454 | 0.0110 | -4 | c.686 others(19): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114066376 | CGTGT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp2 others(61): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0003c0008t0001 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0011others(31): Show | 64 | 454 | 0.1410 | -4 | c.603 others(21): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114076182 | GGAAA | G | intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042a0001c0001t0002g0181 | 3 | 454 | 0.0066 | -4 | c.260 others(19): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 2/9 | chr9 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46413477 | GCTTT | G | intron_variant | MODIFIER | HG00673.hp2 HG01496.hp1 HG02040.hp1 others(7): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0007 | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(7): Show | 10 | 160 | 0.0625 | -4 | c.311 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 15/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46425310 | TTGTG | T | intron_variant | MODIFIER | HG02004.hp1 HG02280.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0045a0001c0001t0001g0057a0001c0003t0001g0004others(3): Show | 6 | 160 | 0.0375 | -4 | c.297 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46447708 | GTAGA | G | intron_variant | MODIFIER | HG03017.hp2 HG03139.hp2 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0033a0001c0001t0001g0068a0001c0001t0001g0132others(2): Show | 5 | 160 | 0.0313 | -4 | c.252 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46459735 | CACAT | C | intron_variant | MODIFIER | HG03017.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0084 | 2 | 160 | 0.0125 | -4 | c.252 others(25): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46486908 | CATAA | C | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01081.hp2 others(52): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0026others(52): Show | 55 | 160 | 0.3438 | -4 | c.252 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46515473 | AAAAC | A | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01074.hp2 others(55): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(55): Show | 58 | 160 | 0.3625 | -4 | c.207 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46543484 | ACAAT | A | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004a0001c0003t0001g0005a0001c0003t0001g0006others(5): Show | 8 | 160 | 0.0500 | -4 | c.619 others(17): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 6/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46552368 | CAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02257.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0155a0001c0001t0001g0158a0001c0002t0002g0047others(7): Show | 10 | 160 | 0.0625 | -4 | c.-12 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46569440 | AATAT | A | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp2 HG02572.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0001 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0003g0014others(8): Show | 11 | 160 | 0.0688 | -4 | c.-12 others(25): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46585695 | AATAT | A | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0062a0001c0001t0001g0131a0001c0001t0001g0132others(3): Show | 6 | 160 | 0.0375 | -4 | c.-12 others(23): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46595535 | TAAAA | T | upstream_gene_variant | MODIFIER | HG02040.hp1 HG02055.hp2 HG02129.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0044others(5): Show | 8 | 160 | 0.0500 | -4 | c.-18 others(15): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1513 | chr11 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110882369 | GCAGA | G | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019a0001c0001t0004g0046 | 6 | 394 | 0.0152 | -4 | c.111 others(21): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95944327 | TTTTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(93): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0001g0235a0001c0001t0001g0236a0001c0001t0001g0237others(70): Show | 96 | 404 | 0.2376 | -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 | CTCTG | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp1 others(69): Show |
a0001a0003a0008 | a0001c0002a0001c0004a0001c0011others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0004t0002others(3): Show | a0001c0002t0002g0001a0001c0002t0002g0003a0001c0002t0002g0007others(42): Show | 72 | 404 | 0.1782 | -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 | 95965298 | CAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(216): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(163): Show | 219 | 404 | 0.5421 | -4 | c.939 others(19): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD2_chr16_2515371_2536417 | 2517713 | TTGTG | T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG00735.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(7): Show | 24 | 318 | 0.0755 | -4 | c.-27 others(15): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2657 | chr16 | TogoVar | ||||||
AMELX_chrX_11288413_11305761 | 11302623 | ACACT | A | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 2 | 300 | 0.0067 | -4 | c.*20 others(15): Show |
AMELX | ENSG00000125363.14 | transcript | ENST00000380714.7 | protein_coding | 1863 | chrX | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6894830 | CAAAT | C | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 131 | 0.0076 | -4 | c.-11 others(25): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6905460 | CTCTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02647.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0057a0001c0001t0001g0058others(1): Show | 4 | 131 | 0.0305 | -4 | c.-11 others(23): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6905484 | TTCTC | T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 131 | 0.0076 | -4 | c.-11 others(23): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6905521 | TTTCC | T | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00673.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(20): Show | 41 | 131 | 0.3130 | -4 | c.-11 others(23): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189484 | ATGTG | A | 3_prime_UTR_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0028a0001c0001t0021g0130 | 3 | 243 | 0.0124 | -4 | c.*39 others(13): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 391 | chrX | TogoVar | |||||
AMER1_chrX_64180117_64210708 | 64189512 | GTGTA | G | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00741.hp1 HG01069.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0012a0001c0001t0007g0026a0001c0001t0007g0085others(3): Show | 8 | 243 | 0.0329 | -4 | c.*36 others(13): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 363 | chrX | TogoVar |