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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRG6_chr6_142297007_142451261 | 142350842 | AAACTACC | A | intron_variant | MODIFIER | HG02559.hp1 HG03209.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015 | a0001c0001t0007g0006a0001c0001t0007g0008a0001c0001t0015g0007 | 3 | 260 | 0.0115 | -7 | c.104 others(26): Show |
ADGRG6 | ENSG00000112414.15 | transcript | ENST00000367609.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRG7_chr3_100604601_100700479 | 100622264 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(159): Show |
a0001a0003a0012 | a0001c0001a0003c0003a0012c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(153): Show | 162 | 340 | 0.4765 | -7 | c.116 others(24): Show |
ADGRG7 | ENSG00000144820.8 | transcript | ENST00000273352.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ADGRG7_chr3_100604601_100700479 | 100669533 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG01255.hp2 HG01346.hp1 others(14): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0014 | a0001c0001t0001a0002c0002t0001a0010c0014t0001 | a0001c0001t0001g0094a0001c0001t0001g0139a0001c0001t0001g0214others(13): Show | 17 | 340 | 0.0500 | -7 | c.213 others(24): Show |
ADGRG7 | ENSG00000144820.8 | transcript | ENST00000273352.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ADGRL2_chr1_81795934_81998932 | 81846666 | CATTAATT | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01496.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0042a0001c0001t0100others(2): Show | a0001c0001t0041g0079a0001c0001t0042g0075a0001c0001t0042g0076others(3): Show | 6 | 306 | 0.0196 | -7 | c.73+ others(22): Show |
ADGRL2 | ENSG00000117114.21 | transcript | ENST00000686636.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ADGRL2_chr1_81795934_81998932 | 81993080 | TATATATA | T | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02809.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0009a0001c0003t0007g0180a0001c0003t0007g0182others(3): Show | 6 | 306 | 0.0196 | -7 | c.*19 others(18): Show |
ADGRL2 | ENSG00000117114.21 | transcript | ENST00000686636.1 | protein_coding | 24/24 | 1936 | chr1 | TogoVar | |||||
ADGRL2_chr1_81795934_81998932 | 81993081 | ATATATAT | A | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01516.hp1 HG02004.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0027a0001c0001t0083others(1): Show | a0001c0001t0009g0126a0001c0001t0009g0148a0001c0001t0009g0150others(5): Show | 8 | 306 | 0.0261 | -7 | c.*19 others(18): Show |
ADGRL2 | ENSG00000117114.21 | transcript | ENST00000686636.1 | protein_coding | 24/24 | 1938 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
ADGRL3_chr4_61195326_62083335 | 61428887 | TCTATATC | T | intron_variant | MODIFIER | HG02809.hp1 HG03540.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0014a0001c0006t0006 | a0001c0002t0014g0041a0001c0006t0006g0033 | 2 | 58 | 0.0345 | -7 | c.-17 others(28): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 2/26 | chr4 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61903650 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG03579.hp1 HG03710.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0022a0001c0002t0018 | a0001c0001t0001g0051a0001c0001t0001g0056a0001c0001t0022g0017others(1): Show | 4 | 58 | 0.0690 | -7 | c.188 others(26): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADGRL3_chr4_61195326_62083335 | 62023031 | TAAATTGA | T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01167.hp2 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0049a0001c0001t0001g0051a0001c0001t0001g0056others(44): Show | 47 | 58 | 0.8103 | -7 | c.339 others(26): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADGRL4_chr1_78884764_79011730 | 78903971 | AAATAAAT | A | intron_variant | MODIFIER | HG02257.hp2 HG02717.hp1 HG02965.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0015 | a0003c0003t0003g0056a0003c0003t0003g0260a0003c0003t0003g0261others(1): Show | 4 | 390 | 0.0103 | -7 | c.175 others(28): Show |
ADGRL4 | ENSG00000162618.15 | transcript | ENST00000370742.4 | protein_coding | 12/14 | chr1 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90722716 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01192.hp2 HG01261.hp2 others(25): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0012a0001c0069others(12): Show | a0001c0002t0001a0001c0012t0001a0001c0069t0001others(14): Show | a0001c0002t0001g0028a0001c0002t0001g0071a0001c0002t0001g0076others(25): Show | 28 | 158 | 0.1772 | -7 | c.974 others(26): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 45/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADGRV1_chr5_90553797_91169437 | 91087292 | GTTGTTTT | G | intron_variant | MODIFIER | HG01358.hp1 NA18942.hp2 |
a0003a0041 | a0003c0004a0041c0084 | a0003c0004t0001a0041c0084t0001 | a0003c0004t0001g0122a0041c0084t0001g0098 | 2 | 158 | 0.0127 | -7 | c.183 others(30): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 86/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADI1_chr2_3492366_3524531 | 3502035 | ACACACAC | A | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02486.hp2 others(15): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0002g0225a0001c0001t0004g0016a0001c0001t0004g0023others(7): Show | 18 | 392 | 0.0459 | -7 | c.241 others(24): Show |
ADI1 | ENSG00000182551.14 | transcript | ENST00000327435.11 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
ADIPOQ_chr3_186837710_186863463 | 186851869 | TACTTGAG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(197): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0011others(116): Show | 200 | 484 | 0.4132 | -7 | c.-8- others(22): Show |
ADIPOQ | ENSG00000181092.10 | transcript | ENST00000320741.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ADIPOR1_chr1_202935832_202963312 | 202938061 | TAAAAAAG | T | downstream_gene_variant | MODIFIER | HG02735.hp2 HG03491.hp1 HG03516.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0025a0001c0001t0002g0064others(2): Show | 7 | 442 | 0.0158 | -7 | c.*35 others(18): Show |
ADIPOR1 | ENSG00000159346.13 | transcript | ENST00000340990.10 | protein_coding | 2770 | chr1 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74239715 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp2 others(61): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0043others(61): Show | 64 | 200 | 0.3200 | -7 | c.194 others(26): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74293165 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00735.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(22): Show | 25 | 200 | 0.1250 | -7 | c.195 others(26): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74302098 | TTTGTTTG | T | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01109.hp1 others(44): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(44): Show | 47 | 200 | 0.2350 | -7 | c.195 others(26): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74303585 | GTTGTTTT | G | intron_variant | MODIFIER | HG00738.hp1 HG01168.hp1 HG02015.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0042a0001c0001t0001g0064a0001c0001t0001g0072others(3): Show | 6 | 200 | 0.0300 | -7 | c.195 others(26): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74347106 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp2 HG02559.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0031others(16): Show | 19 | 200 | 0.0950 | -7 | c.273 others(26): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74392750 | ATATATAT | A | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp2 others(52): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0042others(52): Show | 55 | 200 | 0.2750 | -7 | c.274 others(24): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74424535 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG01433.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010a0001c0001t0001g0016a0001c0001t0001g0019others(11): Show | 14 | 200 | 0.0700 | -7 | c.555 others(26): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74553190 | GTTTTTTT | G | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0003a0001c0002t0001g0004a0001c0002t0001g0020others(4): Show | 7 | 200 | 0.0350 | -7 | c.726 others(26): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74695620 | GTGTGTGT | G | intron_variant | MODIFIER | HG02056.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0060 | 2 | 200 | 0.0100 | -7 | c.965 others(26): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 10/10 | chr10 | TogoVar | ||||||
ADNP_chr20_50883918_50936437 | 50899867 | ATTTTTTT | A | intron_variant | MODIFIER | HG01943.hp2 HG01978.hp2 HG01981.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0286a0001c0001t0002g0287a0001c0001t0002g0289others(9): Show | 12 | 358 | 0.0335 | -7 | c.201 others(24): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 5/5 | chr20 | TogoVar | ||||||
ADNP_chr20_50883918_50936437 | 50909363 | CAAAAAAA | C | intron_variant | MODIFIER | HG03453.hp1 HG03540.hp1 HG04115.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0017a0001c0002t0019a0001c0002t0033others(2): Show | a0001c0002t0017g0015a0001c0002t0017g0019a0001c0002t0019g0064others(4): Show | 7 | 358 | 0.0196 | -7 | c.-89 others(24): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
ADNP_chr20_50883918_50936437 | 50913250 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01943.hp2 others(12): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0287a0001c0001t0003g0279a0001c0001t0005g0347others(12): Show | 15 | 358 | 0.0419 | -7 | c.-89 others(24): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
ADORA2B_chr17_15940130_15980746 | 15976140 | TAAATAAA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00639.hp1 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(29): Show | 32 | 346 | 0.0925 | -7 | c.*79 others(16): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 395 | chr17 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419280 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01168.hp2 others(20): Show |
a0002a0003a0013others(4): Show | a0002c0002a0003c0003a0003c0015others(5): Show | a0002c0002t0081a0003c0003t0008a0003c0003t0009others(13): Show | a0002c0002t0081g0172a0003c0003t0008g0027a0003c0003t0008g0105others(20): Show | 23 | 262 | 0.0878 | -7 | c.106 others(26): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRM_chr17_10692594_10716558 | 10704486 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00609.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0007t0001a0002c0002t0002 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0009others(13): Show | 43 | 402 | 0.1070 | -7 | c.-17 others(22): Show |
ADPRM | ENSG00000170222.12 | transcript | ENST00000379774.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ADPRS_chr1_36083892_36098932 | 36090679 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00735.hp1 others(57): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0028a0002c0002t0001g0048 | 60 | 410 | 0.1463 | -7 | c.212 others(22): Show |
ADPRS | ENSG00000116863.11 | transcript | ENST00000373178.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ADRA1B_chr5_159911482_159978012 | 159957946 | AAAAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01168.hp1 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0003t0001 | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0068others(22): Show | 26 | 384 | 0.0677 | -7 | c.950 others(26): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADRB1_chr10_114038866_114051904 | 114047958 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG02080.hp2 NA18943.hp2 NA18978.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0000a0002c0002t0003g0000 | 9 | 394 | 0.0228 | -7 | c.*23 others(18): Show |
ADRB1 | ENSG00000043591.6 | transcript | ENST00000369295.4 | protein_coding | 1055 | chr10 | TogoVar | ||||||
ADSS1_chr14_104719229_104752310 | 104735384 | GCCTGATC | G | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01074.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0008others(4): Show | a0001c0001t0002g0023a0001c0001t0002g0025a0001c0003t0001g0041others(24): Show | 33 | 402 | 0.0821 | -7 | c.295 others(22): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADSS1_chr14_104719229_104752310 | 104736883 | TATATATA | T | intron_variant | MODIFIER | HG02280.hp2 HG02965.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 3 | 402 | 0.0075 | -7 | c.296 others(24): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 2/12 | chr14 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244435168 | CAAAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01256.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0008a0001c0001t0001g0293a0001c0001t0001g0295others(4): Show | 11 | 408 | 0.0270 | -7 | c.355 others(24): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 3/12 | chr1 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11715648 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(73): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0003a0002c0002t0009a0002c0002t0011others(1): Show | a0002c0002t0003g0007a0002c0002t0003g0026a0002c0002t0003g0036others(72): Show | 76 | 410 | 0.1854 | -7 | c.659 others(24): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11715806 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01109.hp2 others(64): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0002a0001c0001t0004a0003c0003t0002others(1): Show | a0001c0001t0002g0017a0001c0001t0002g0060a0001c0001t0002g0062others(64): Show | 67 | 410 | 0.1634 | -7 | c.659 others(24): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19475179 | GTGTACAC | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(400): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0045a0001c0001t0001g0051a0001c0001t0001g0052others(396): Show | 403 | 404 | 0.9975 | -7 | c.987 others(24): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19479717 | GTTTTTTT | G | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01074.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0045a0001c0001t0001g0051a0001c0001t0001g0052others(77): Show | 80 | 404 | 0.1980 | -7 | c.987 others(24): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AFAP1L1_chr5_149266859_149348637 | 149316573 | TCCCTGGG | T | intron_variant | MODIFIER | NA18946.hp2 NA18981.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0249a0001c0001t0001g0252 | 3 | 286 | 0.0105 | -7 | c.126 others(24): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AFAP1L2_chr10_114289824_114409502 | 114327166 | TATATATA | T | intron_variant | MODIFIER | HG02040.hp1 HG02280.hp2 HG02647.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0020a0002c0005others(4): Show | a0001c0002t0010a0001c0020t0002a0002c0005t0003others(5): Show | a0001c0002t0010g0027a0001c0020t0002g0258a0002c0005t0003g0023others(6): Show | 9 | 262 | 0.0344 | -7 | c.316 others(24): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 4/18 | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7795405 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01257.hp1 others(32): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0007others(9): Show | a0001c0002t0032a0001c0004t0006a0001c0004t0007others(16): Show | a0001c0002t0032g0252a0001c0004t0006g0014a0001c0004t0006g0075others(32): Show | 35 | 318 | 0.1101 | -7 | c.126 others(26): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7802088 | TTTATTAC | T | intron_variant | MODIFIER | HG02257.hp2 HG02965.hp1 HG03540.hp1 |
a0001 | a0001c0002a0001c0030 | a0001c0002t0030a0001c0030t0038 | a0001c0002t0030g0013a0001c0002t0030g0018a0001c0030t0038g0259 | 3 | 318 | 0.0094 | -7 | c.105 others(26): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 9/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7874356 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG01099.hp2 others(30): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0015others(8): Show | a0001c0002t0028a0001c0002t0030a0001c0004t0006others(15): Show | a0001c0002t0028g0016a0001c0002t0030g0013a0001c0002t0030g0018others(30): Show | 33 | 318 | 0.1038 | -7 | c.-2- others(22): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
AFDN_chr6_167821911_167977023 | 167857234 | GGATAGTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp1 others(72): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0028a0003c0009others(2): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0012others(5): Show | a0001c0002t0001g0005a0001c0002t0001g0006a0001c0002t0001g0031others(72): Show | 75 | 326 | 0.2301 | -7 | c.106 others(24): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 86937788 | TGGGGGTG | T | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0041a0001c0005t0043a0001c0005t0052others(1): Show | a0001c0005t0041g0175a0001c0005t0043g0173a0001c0005t0052g0172others(1): Show | 4 | 294 | 0.0136 | -7 | c.-37 others(24): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 86951616 | TTTTTTTC | T | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG03139.hp2 others(4): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0028others(4): Show | a0001c0001t0001g0124a0001c0001t0015g0259a0001c0001t0028g0257others(4): Show | 7 | 294 | 0.0238 | -7 | c.38+ others(22): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 86982848 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG01192.hp1 HG01256.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0204a0001c0001t0004g0212a0001c0001t0004g0213others(3): Show | 6 | 294 | 0.0204 | -7 | c.38+ others(24): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 87013032 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00741.hp1 others(17): Show |
a0001a0015 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0077a0001c0001t0001g0120a0001c0001t0001g0142others(17): Show | 20 | 294 | 0.0680 | -7 | c.39- others(24): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |