view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTN5_chr11_99015949_100363885 | 99598282 | TTCTTTTC others(43): Show |
T | intron_variant | MODIFIER | NA19000.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0001 | 1 | 66 | 0.0152 | -50 | c.55+ others(67): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51208375 | TGGGAGGG others(43): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01258.hp2 HG02683.hp2 others(10): Show |
a0002a0003a0004others(2): Show | a0002c0019a0003c0011a0004c0009others(2): Show | a0002c0019t0001a0003c0011t0001a0004c0009t0001others(4): Show | a0002c0019t0001g0031a0003c0011t0001g0049a0004c0009t0001g0055others(10): Show | 13 | 230 | 0.0565 | -50 | c.245 others(69): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45405063 | CGCCCGCC others(43): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0220 | 1 | 292 | 0.0034 | -50 | c.-16 others(59): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 101 | chr21 | TogoVar | |||||||
COL19A1_chr6_69861556_70217468 | 69982223 | GCTCTGTC others(43): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00741.hp2 others(31): Show |
a0002a0003a0010 | a0002c0003a0002c0004a0002c0006others(4): Show | a0002c0003t0002a0002c0003t0012a0002c0003t0021others(14): Show | a0002c0003t0002g0018a0002c0003t0002g0020a0002c0003t0002g0026others(31): Show | 34 | 182 | 0.1868 | -50 | c.102 others(71): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56211161 | GTGTATAT others(43): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(170): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0007a0001c0015others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0101a0001c0001t0001g0102others(169): Show | 173 | 264 | 0.6553 | -50 | c.-38 others(69): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178418668 | GTGGCCAC others(43): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02622.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0001t0005a0002c0002t0009others(4): Show | a0001c0001t0003g0212a0001c0001t0003g0213a0001c0001t0005g0216others(6): Show | 9 | 236 | 0.0381 | -50 | c.362 others(71): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110253264 | TATATACA others(43): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02723.hp1 HG02895.hp2 |
a0002 | a0002c0004a0002c0011a0002c0015 | a0002c0004t0001a0002c0011t0001a0002c0015t0001 | a0002c0004t0001g0190a0002c0011t0001g0216a0002c0015t0001g0231 | 3 | 344 | 0.0087 | -50 | c.85- others(67): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110483680 | GTGGATTC others(43): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01346.hp1 HG02055.hp1 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0011others(16): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0029others(20): Show | a0001c0001t0003g0098a0001c0002t0001g0101a0001c0002t0029g0204others(20): Show | 23 | 372 | 0.0618 | -50 | c.290 others(69): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 32/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134669212 | TTTCCCTT others(43): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02280.hp2 others(7): Show |
a0001a0006 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0020a0001c0006t0019a0001c0006t0047others(7): Show | a0001c0001t0020g0194a0001c0006t0019g0264a0001c0006t0047g0019others(7): Show | 10 | 272 | 0.0368 | -50 | c.110 others(69): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45977777 | GGAGGGAG others(43): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 128 | 0.0078 | -50 | c.-40 others(61): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3992 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45977780 | GGGAGGGG others(43): Show |
G | upstream_gene_variant | MODIFIER | HG02148.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096a0001c0001t0002g0102 | 2 | 128 | 0.0156 | -50 | c.-40 others(61): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3989 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45977784 | GGGGGAGA others(43): Show |
G | upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0034 | 1 | 128 | 0.0078 | -50 | c.-40 others(61): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3985 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45977792 | GAGGAGGG others(43): Show |
G | upstream_gene_variant | MODIFIER | HG02970.hp1 | a0020 | a0020c0013 | a0020c0013t0004 | a0020c0013t0004g0018 | 1 | 128 | 0.0078 | -50 | c.-40 others(61): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3977 | chr21 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3590472 | TCGGGCGG others(43): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0199 | 1 | 378 | 0.0027 | -50 | c.-47 others(61): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4639 | chr2 | TogoVar | |||||||
COX14_chr12_50107236_50125453 | 50121886 | TCTTCTTT others(43): Show |
T | downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 418 | 0.0024 | -50 | c.*16 others(61): Show |
COX14 | ENSG00000178449.9 | transcript | ENST00000550487.6 | protein_coding | 1434 | chr12 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46759777 | TTATCTTA others(43): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 300 | 0.0033 | -50 | c.-49 others(69): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826313 | CGGGGCGG others(43): Show |
C | upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 416 | 0.0024 | -50 | c.-39 others(59): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 185 | chr4 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 97122974 | AATAAAAT others(43): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 126 | 0.0079 | -50 | c.125 others(71): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49926695 | CCTCTTGC others(43): Show |
C | intron_variant | MODIFIER | NA18974.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0180 | 1 | 324 | 0.0031 | -50 | c.101 others(67): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | chr22 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240907900 | GCTCTACC others(43): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02922.hp1 NA18906.hp2 |
a0018a0052 | a0018c0017a0052c0072 | a0018c0017t0002a0052c0072t0002 | a0018c0017t0002g0241a0018c0017t0002g0242a0052c0072t0002g0239 | 3 | 350 | 0.0086 | -50 | c.78+ others(65): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240908200 | GCTCTACC others(43): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG01175.hp2 others(2): Show |
a0001a0002a0018others(1): Show | a0001c0001a0002c0002a0018c0017others(1): Show | a0001c0001t0002a0002c0002t0002a0018c0017t0002others(1): Show | a0001c0001t0002g0312a0001c0001t0002g0315a0002c0002t0002g0283others(2): Show | 5 | 350 | 0.0143 | -50 | c.78+ others(65): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240908375 | GCTCTACC others(43): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01515.hp1 HG02004.hp2 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0012others(2): Show | a0001c0001t0002a0002c0002t0002a0002c0012t0002others(2): Show | a0001c0001t0002g0247a0001c0001t0002g0248a0001c0001t0002g0315others(5): Show | 8 | 350 | 0.0229 | -50 | c.78+ others(65): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240908568 | GGCGTGAG others(43): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG02738.hp2 others(2): Show |
a0001a0002a0042 | a0001c0001a0002c0002a0042c0065 | a0001c0001t0002a0001c0001t0004a0002c0002t0002others(1): Show | a0001c0001t0002g0312a0001c0001t0004g0340a0002c0002t0002g0235others(2): Show | 5 | 350 | 0.0143 | -50 | c.78+ others(65): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240908925 | GCTCTACC others(43): Show |
G | intron_variant | MODIFIER | HG01515.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0244 | 1 | 350 | 0.0029 | -50 | c.78+ others(65): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240909025 | GCTCTACC others(43): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 350 | 0.0029 | -50 | c.78+ others(65): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240923923 | CCCCCACA others(43): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0055 | a0055c0035 | a0055c0035t0003 | a0055c0035t0003g0232 | 1 | 350 | 0.0029 | -50 | c.488 others(67): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240923928 | ACACTAAC others(43): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02922.hp2 others(1): Show |
a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0134a0014c0014t0001g0135a0014c0014t0001g0173others(1): Show | 4 | 350 | 0.0114 | -50 | c.488 others(67): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240985258 | CCACACAC others(43): Show |
C | intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0301 | 1 | 350 | 0.0029 | -50 | c.455 others(69): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRYM_chr16_21253521_21283290 | 21280172 | GAGTTCGA others(43): Show |
G | upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 394 | 0.0025 | -50 | c.-19 others(61): Show |
CRYM | ENSG00000103316.12 | transcript | ENST00000572914.2 | protein_coding | 1883 | chr16 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666781 | AAGAAAGA others(43): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 238 | 0.0042 | -50 | c.-39 others(71): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSK_chr15_74777080_74808197 | 74794250 | AGGGGTCC others(43): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(77): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0013others(38): Show | 80 | 394 | 0.2031 | -50 | c.-65 others(67): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3926032 | CACACACA others(43): Show |
C | intron_variant | MODIFIER | HG02886.hp1 NA20129.hp1 |
a0001a0014 | a0001c0039a0014c0010 | a0001c0039t0066a0014c0010t0070 | a0001c0039t0066g0080a0014c0010t0070g0084 | 2 | 126 | 0.0159 | -50 | c.818 others(69): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4920892 | AAAAGAAA others(43): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG03579.hp1 HG04228.hp2 others(3): Show |
a0001a0002a0006others(2): Show | a0001c0003a0001c0080a0002c0012others(3): Show | a0001c0003t0013a0001c0080t0040a0002c0012t0017others(3): Show | a0001c0003t0013g0026a0001c0080t0040g0025a0002c0012t0017g0088others(3): Show | 6 | 126 | 0.0476 | -50 | c.85+ others(67): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542622 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02647.hp1 HG03491.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024a0001c0001t0028 | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0022others(5): Show | 8 | 390 | 0.0205 | -50 | c.230 others(67): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSTPP1_chr11_46931761_47167247 | 47038090 | GCCGGGCG others(43): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00738.hp2 others(27): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0009 | a0001c0001t0001a0001c0004t0001a0006c0009t0001 | a0001c0001t0001g0091a0001c0001t0001g0101a0001c0001t0001g0102others(27): Show | 30 | 224 | 0.1339 | -50 | c.150 others(69): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CTNNAL1_chr9_108937577_109018499 | 109018404 | AAATGTTT others(43): Show |
A | upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 420 | 0.0024 | -50 | c.-50 others(61): Show |
CTNNAL1 | ENSG00000119326.15 | transcript | ENST00000325551.9 | protein_coding | 4906 | chr9 | TogoVar | |||||||
CTTNBP2_chr7_117705651_117878441 | 117864843 | CTATATTC others(43): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0002 | a0001c0006t0001g0079a0001c0006t0002g0080 | 2 | 164 | 0.0122 | -50 | c.82- others(65): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 1/22 | chr7 | TogoVar | |||||||
CTTN_chr11_70393529_70441575 | 70411185 | AGTGCACA others(43): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 322 | 0.0031 | -50 | c.291 others(67): Show |
CTTN | ENSG00000085733.16 | transcript | ENST00000301843.13 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CYP17A1_chr10_102825531_102842413 | 102838437 | CGATAAGG others(43): Show |
C | upstream_gene_variant | MODIFIER | HG02723.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0002t0002g0028 | 2 | 442 | 0.0045 | -50 | c.-11 others(61): Show |
CYP17A1 | ENSG00000148795.7 | transcript | ENST00000369887.4 | protein_coding | 1025 | chr10 | TogoVar | |||||||
CYP2A7_chr19_40870439_40887231 | 40880763 | CAGGACAG others(43): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01123.hp1 others(34): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0030a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0030t0004others(6): Show | a0001c0001t0001g0024a0001c0001t0001g0085a0001c0001t0001g0108others(11): Show | 37 | 398 | 0.0930 | -50 | c.344 others(65): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
CYP7B1_chr8_64585851_64803737 | 64686051 | GGGGGGGG others(43): Show |
G | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0242 | 1 | 258 | 0.0039 | -50 | c.123 others(69): Show |
CYP7B1 | ENSG00000172817.4 | transcript | ENST00000310193.4 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
CYP7B1_chr8_64585851_64803737 | 64686228 | TGGGGGGG others(43): Show |
T | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0112 | 1 | 258 | 0.0039 | -50 | c.123 others(69): Show |
CYP7B1 | ENSG00000172817.4 | transcript | ENST00000310193.4 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
CYTH1_chr17_78669048_78787273 | 78760382 | TATACACA others(43): Show |
T | intron_variant | MODIFIER | NA18939.hp1 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0025a0001c0001t0005g0032 | 2 | 378 | 0.0053 | -50 | c.22+ others(67): Show |
CYTH1 | ENSG00000108669.18 | transcript | ENST00000446868.8 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241765436 | GTAGGAAG others(43): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02809.hp2 |
a0002a0005 | a0002c0009a0005c0018 | a0002c0009t0008a0005c0018t0008 | a0002c0009t0008g0094a0005c0018t0008g0327 | 2 | 412 | 0.0049 | -50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766033 | GGAGTAGG others(43): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0003 | a0003c0003t0043 | a0003c0003t0043g0359 | 1 | 412 | 0.0024 | -50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766855 | CTTGGGGA others(43): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0029 | a0001c0029t0002 | a0001c0029t0002g0158 | 1 | 412 | 0.0024 | -50 | c.130 others(67): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DACH1_chr13_71432966_71872204 | 71553080 | GATTAGAC others(43): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 102 | 0.0098 | -50 | c.157 others(69): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71735419 | TGGGATAT others(43): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 102 | 0.0098 | -50 | c.849 others(69): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71779158 | CGTATATA others(43): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01433.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0034others(25): Show | 28 | 102 | 0.2745 | -50 | c.848 others(69): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71812505 | GCATCAAA others(43): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG01978.hp1 HG02055.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0014a0001c0001t0001g0024a0001c0001t0001g0028others(16): Show | 19 | 102 | 0.1863 | -50 | c.848 others(69): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar |