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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARSH_chrX_3001546_3039111 | 3036945 | ATTATAT | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(32): Show |
40 | 246 | 0.1626 | -6 | c.*35 others(17): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2835 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036993 | ATTATAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG04184.hp2 HG04228.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0141 a0001c0001t0001g0156 others(1): Show |
4 | 79 | 0.0506 | -6 | c.*36 others(17): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2883 | chrX | TogoVar | |||||||
ARSJ_chr4_113895284_113984647 | 113924070 | TATATAA | T | intron_variant | MODIFIER | HG00544.hp1 HG01993.hp1 HG02145.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0008 a0001c0001t0002g0080 a0001c0001t0002g0130 others(12): Show |
16 | 348 | 0.0460 | -6 | c.399 others(25): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2935686 | TCTTTTC | T | intron_variant | MODIFIER | HG02015.hp1 NA18959.hp1 NA18989.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0095 a0001c0001t0001g0122 others(3): Show |
6 | 326 | 0.0184 | -6 | c.141 others(23): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 10/10 | chrX | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2960268 | CAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02896.hp1 others(6): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0205 a0002c0003t0002g0023 a0002c0003t0002g0024 others(6): Show |
9 | 171 | 0.0526 | -6 | c.23+ others(19): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 2/10 | chrX | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3640567 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01081.hp2 HG02451.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0278 a0002c0002t0001g0165 a0002c0002t0001g0167 others(4): Show |
7 | 13 | 0.5385 | -6 | c.-46 others(17): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4560 | chr11 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14830536 | AGTGTGT | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00733.hp2 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0202 a0001c0001t0004g0256 a0001c0001t0005g0131 others(30): Show |
37 | 76 | 0.4868 | -6 | c.854 others(23): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14830649 | GTATATA | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0130 others(39): Show |
45 | 123 | 0.3659 | -6 | c.854 others(23): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
ART5_chr11_3633512_3646992 | 3640567 | CTTTTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG02809.hp1 HG03225.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(1): Show | a0001c0001t0001g0018 a0002c0002t0001g0105 a0002c0002t0005g0038 others(1): Show |
8 | 15 | 0.5333 | -6 | c.58- others(19): Show |
ART5 | ENSG00000167311.14 | transcript | ENST00000397068.8 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ARV1_chr1_230974094_231005733 | 230984363 | CGTGTGT | C | intron_variant | MODIFIER | HG03688.hp2 NA19003.hp2 NA19075.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0085 |
3 | 147 | 0.0204 | -6 | c.175 others(23): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67545316 | TGCAGCA | T | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG01074.hp1 HG01106.hp1 others(15): Show |
a0005 | a0005c0006a0005c0011 | a0005c0006t0001a0005c0006t0003a0005c0006t0008others(13): Show | a0005c0006t0001g0129 a0005c0006t0003g0003 a0005c0006t0008g0122 others(15): Show |
18 | 42 | 0.4286 | -6 | c.234 others(13): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1360/10667 | 234/2763 | 78/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67546514 | TGGCGGC | T | disruptive_inframe_deletion | MODERATE | HG00735.hp2 HG02451.hp2 HG02615.hp1 others(8): Show |
a0001a0002a0004others(5): Show | a0001c0009a0002c0010a0004c0032others(5): Show | a0001c0009t0033a0002c0010t0008a0002c0010t0018others(8): Show | a0001c0009t0033g0138 a0002c0010t0008g0156 a0002c0010t0018g0165 others(8): Show |
11 | 91 | 0.1209 | -6 | c.141 others(15): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2541/10667 | 1415/2763 | 472/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67562356 | ATGTGTG | A | intron_variant | MODIFIER | HG03209.hp1 HG03486.hp1 HG03516.hp2 |
a0002a0005 | a0002c0010a0005c0006 | a0002c0010t0020a0005c0006t0020a0005c0006t0032 | a0002c0010t0020g0116 a0005c0006t0020g0115 a0005c0006t0032g0117 |
3 | 136 | 0.0221 | -6 | c.161 others(27): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67604198 | ATGTGTG | A | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 HG02886.hp1 others(1): Show |
a0002a0005a0008others(1): Show | a0002c0010a0005c0006a0008c0007others(1): Show | a0002c0010t0020a0005c0006t0028a0008c0007t0034others(1): Show | a0002c0010t0020g0116 a0005c0006t0028g0153 a0008c0007t0034g0159 others(1): Show |
4 | 24 | 0.1667 | -6 | c.161 others(27): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67701674 | TCACACA | T | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00741.hp1 others(13): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0009a0001c0026others(5): Show | a0001c0001t0010a0001c0009t0004a0001c0009t0008others(11): Show | a0001c0001t0010g0166 a0001c0009t0004g0118 a0001c0009t0004g0155 others(13): Show |
16 | 150 | 0.1067 | -6 | c.188 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67728574 | AATATAT | A | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG02698.hp1 others(2): Show |
a0003a0004a0005 | a0003c0002a0004c0004a0005c0011 | a0003c0002t0012a0004c0004t0012a0005c0011t0012 | a0003c0002t0012g0020 a0003c0002t0012g0189 a0003c0002t0012g0190 others(2): Show |
5 | 30 | 0.1667 | -6 | c.*47 others(17): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 4769 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102878296 | TTAATTA | T | intron_variant | MODIFIER | HG02135.hp1 HG03834.hp1 NA18940.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015a0001c0001t0021others(2): Show | a0001c0001t0008g0009 a0001c0001t0008g0047 a0001c0001t0008g0048 others(11): Show |
14 | 360 | 0.0389 | -6 | c.611 others(19): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102885495 | ATTTTTT | A | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0187 others(9): Show |
12 | 201 | 0.0597 | -6 | c.886 others(23): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102888851 | CTATATA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(81): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0023 others(70): Show |
84 | 277 | 0.3032 | -6 | c.886 others(23): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102888877 | ATATATT | A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0001 | a0001c0001t0001g0216 a0001c0001t0001g0261 a0001c0001t0001g0295 others(3): Show |
6 | 285 | 0.0211 | -6 | c.886 others(23): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50754891 | GGTGTGT | G | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG02280.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0030a0001c0001t0059a0002c0002t0029others(1): Show | a0001c0001t0030g0077 a0001c0001t0030g0079 a0001c0001t0059g0003 others(2): Show |
6 | 183 | 0.0328 | -6 | c.*19 others(15): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 192 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH2B_chr10_50734936_50764255 | 50759010 | AGTTTGT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(142): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(17): Show | a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 others(52): Show |
145 | 412 | 0.3519 | -6 | c.*42 others(17): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 4285 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH2B_chr10_50734936_50764255 | 50759774 | AAAAGAT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(132): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(45): Show |
135 | 412 | 0.3277 | -6 | c.*50 others(17): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 520 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50187084 | CCTCTCT | C | 3_prime_UTR_variant | MODIFIER | HG01981.hp2 HG03453.hp1 NA18522.hp2 |
a0001a0002 | a0001c0005a0001c0015a0002c0006 | a0001c0005t0053a0001c0015t0016a0002c0006t0043 | a0001c0005t0053g0258 a0001c0015t0016g0047 a0002c0006t0043g0263 |
3 | 321 | 0.0093 | -6 | c.*22 others(15): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 225 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50187118 | TCACACA | T | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG00733.hp2 others(16): Show |
a0001a0003a0004 | a0001c0002a0001c0005a0003c0003others(1): Show | a0001c0002t0004a0001c0002t0025a0001c0005t0005others(2): Show | a0001c0002t0004g0016 a0001c0002t0004g0072 a0001c0002t0004g0073 others(15): Show |
19 | 300 | 0.0633 | -6 | c.*19 others(15): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 191 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50198276 | CTCTTTA | C | intron_variant | MODIFIER | HG01192.hp1 HG02258.hp2 HG02451.hp1 others(9): Show |
a0001a0008 | a0001c0004a0001c0007a0001c0011others(1): Show | a0001c0004t0006a0001c0004t0014a0001c0007t0014others(3): Show | a0001c0004t0006g0284 a0001c0004t0006g0332 a0001c0004t0014g0278 others(9): Show |
12 | 406 | 0.0296 | -6 | c.185 others(23): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 17/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50198991 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(122): Show |
a0001a0004a0008others(2): Show | a0001c0002a0001c0004a0001c0005others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(33): Show | a0001c0002t0001g0091 a0001c0002t0002g0017 a0001c0002t0002g0092 others(107): Show |
125 | 391 | 0.3197 | -6 | c.185 others(21): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 17/20 | chr10 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130064893 | ATGTGTG | A | intron_variant | MODIFIER | HG02630.hp2 HG03490.hp1 HG03669.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0001a0002c0002t0011 | a0001c0001t0011g0013 a0002c0002t0001g0071 a0002c0002t0001g0137 others(2): Show |
5 | 110 | 0.0455 | -6 | c.270 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130070940 | GGAGAGA | G | intron_variant | MODIFIER | HG01496.hp2 HG02615.hp1 HG02723.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0008a0001c0001t0012a0004c0012t0027 | a0001c0001t0008g0009 a0001c0001t0012g0295 a0001c0001t0012g0296 others(2): Show |
5 | 305 | 0.0164 | -6 | c.270 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130074440 | AACACAC | A | intron_variant | MODIFIER | HG02145.hp2 HG03139.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0091 a0001c0001t0001g0158 a0001c0001t0001g0227 others(2): Show |
5 | 204 | 0.0245 | -6 | c.270 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130097126 | CAAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01256.hp1 HG02004.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0010 | a0002c0003t0001g0017 a0002c0003t0001g0025 a0002c0003t0001g0026 others(3): Show |
6 | 36 | 0.1667 | -6 | c.240 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130108757 | GTTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00642.hp1 others(31): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0011others(1): Show | a0001c0001t0001a0001c0001t0012a0002c0002t0001others(7): Show | a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0012g0295 others(31): Show |
34 | 75 | 0.4533 | -6 | c.240 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130109460 | GTCTGTT | G | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02622.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 others(1): Show |
4 | 306 | 0.0131 | -6 | c.240 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130147071 | CTAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0010 | a0002c0003t0001g0017 a0002c0003t0001g0023 a0002c0003t0001g0025 others(7): Show |
10 | 306 | 0.0327 | -6 | c.108 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 13/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130174448 | CCAGTAA | C | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 others(1): Show |
4 | 306 | 0.0131 | -6 | c.746 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 9/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130178644 | TAGGCCA | T | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(10): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0002a0002c0003t0001others(1): Show | a0002c0002t0001g0160 a0002c0002t0002g0161 a0002c0003t0001g0017 others(10): Show |
13 | 306 | 0.0425 | -6 | c.746 others(21): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 9/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130256738 | CTTATAT | C | intron_variant | MODIFIER | HG00423.hp2 HG01934.hp1 NA18942.hp2 |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0002a0001c0004t0002a0002c0003t0001 | a0001c0001t0002g0024 a0001c0004t0002g0189 a0002c0003t0001g0023 |
3 | 246 | 0.0122 | -6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130256739 | TTATATA | T | intron_variant | MODIFIER | HG02897.hp1 HG03704.hp2 HG04204.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0029 | a0001c0001t0001g0272 a0002c0002t0003g0130 a0002c0002t0003g0131 others(1): Show |
4 | 69 | 0.0580 | -6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130262416 | AAGAGAG | A | intron_variant | MODIFIER | HG02056.hp2 HG02572.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0245 a0001c0001t0002g0174 a0001c0001t0012g0295 others(4): Show |
7 | 222 | 0.0315 | -6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130268490 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01891.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0010 | a0001c0001t0002a0001c0001t0008a0001c0001t0018others(3): Show | a0001c0001t0002g0213 a0001c0001t0008g0009 a0001c0001t0008g0015 others(6): Show |
9 | 49 | 0.1837 | -6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130284842 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(29): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0002c0002t0001g0012 others(29): Show |
32 | 131 | 0.2443 | -6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130352212 | GTTTTTT | G | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG02071.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0024a0002c0002t0001 | a0001c0001t0002g0186 a0001c0001t0002g0206 a0001c0001t0002g0207 others(4): Show |
7 | 159 | 0.0440 | -6 | c.186 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130359435 | AAAGAAG | A | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 others(1): Show |
4 | 306 | 0.0131 | -6 | c.60- others(21): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130373015 | CACACAG | C | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(31): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0002t0002a0002c0002t0011others(1): Show | a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 others(31): Show |
34 | 306 | 0.1111 | -6 | c.60- others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130373109 | TATACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG01496.hp2 HG01891.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(12): Show | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 others(31): Show |
34 | 127 | 0.2677 | -6 | c.60- others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130376903 | CAAAAAA | C | intron_variant | MODIFIER | HG01192.hp2 HG01255.hp2 HG01361.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(8): Show | a0001c0001t0001g0053 a0001c0001t0001g0163 a0001c0001t0001g0253 others(17): Show |
20 | 176 | 0.1136 | -6 | c.60- others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130389758 | TGGCACA | T | intron_variant | MODIFIER | HG03239.hp2 HG03942.hp1 HG04228.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 |
3 | 306 | 0.0098 | -6 | c.59+ others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130420235 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(61): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(15): Show | a0001c0001t0001g0011 a0001c0001t0001g0038 a0001c0001t0001g0042 others(61): Show |
64 | 113 | 0.5664 | -6 | c.-27 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130445972 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0002c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0002g0027 a0002c0002t0001g0012 a0002c0003t0001g0017 others(8): Show |
11 | 55 | 0.2000 | -6 | c.-25 others(17): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2299 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9235319 | GTTTTCT | G | intron_variant | MODIFIER | HG00735.hp2 HG01346.hp1 HG01358.hp2 others(7): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0001c0002t0008a0002c0001t0001others(1): Show | a0001c0002t0003g0094 a0001c0002t0008g0206 a0002c0001t0001g0042 others(7): Show |
10 | 210 | 0.0476 | -6 | c.126 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |