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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM2A_chr16_20446521_20492669 | 20483569 | CAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00558.hp2 others(40): Show |
a0002a0004a0006others(2): Show | a0002c0002a0004c0004a0004c0014others(3): Show | a0002c0002t0007a0004c0004t0002a0004c0014t0001others(3): Show | a0002c0002t0007g0227 a0004c0004t0002g0002 a0004c0004t0002g0036 others(33): Show |
43 | 70 | 0.6143 | -3 | c.162 others(20): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20490035 | CAAA | C | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0006a0002c0002t0007a0003c0003t0007others(6): Show | a0001c0001t0006g0091 a0002c0002t0007g0227 a0003c0003t0007g0013 others(13): Show |
19 | 289 | 0.0657 | -3 | c.*33 others(14): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 2367 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20533599 | CTTT | C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG02559.hp1 HG02615.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0003others(3): Show | a0001c0001t0001a0001c0006t0001a0002c0003t0010others(3): Show | a0001c0001t0001g0170 a0001c0006t0001g0299 a0002c0003t0010g0088 others(3): Show |
6 | 72 | 0.0833 | -3 | c.*36 others(14): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2626 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20567381 | TATA | T | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02257.hp2 others(10): Show |
a0003 | a0003c0007a0003c0008 | a0003c0007t0007a0003c0007t0014a0003c0008t0001others(2): Show | a0003c0007t0007g0313 a0003c0007t0014g0331 a0003c0007t0014g0332 others(9): Show |
13 | 386 | 0.0337 | -3 | c.-8- others(18): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20567463 | TATA | T | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01361.hp1 others(1): Show |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0007a0003c0007t0007 | a0001c0002t0007g0031 a0001c0002t0007g0240 a0003c0007t0007g0248 |
4 | 386 | 0.0104 | -3 | c.-8- others(18): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20430846 | AGAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp1 others(60): Show |
a0003a0006a0011others(2): Show | a0003c0003a0006c0005a0011c0013others(2): Show | a0003c0003t0001a0003c0003t0003a0006c0005t0003others(5): Show | a0003c0003t0001g0142 a0003c0003t0001g0205 a0003c0003t0003g0002 others(44): Show |
63 | 432 | 0.1458 | -3 | c.112 others(20): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20438954 | TAAA | T | intron_variant | MODIFIER | HG00438.hp2 HG02145.hp1 HG02486.hp2 others(3): Show |
a0001a0004a0017 | a0001c0001a0004c0004a0017c0017 | a0001c0001t0001a0004c0004t0005a0017c0017t0010 | a0001c0001t0001g0092 a0001c0001t0001g0125 a0004c0004t0005g0282 others(3): Show |
6 | 176 | 0.0341 | -3 | c.153 others(20): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM6_chr10_95189238_95233929 | 95193824 | TAAA | T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00741.hp1 others(14): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0001a0003c0003t0001a0004c0004t0001 | a0002c0002t0001g0038 a0002c0002t0001g0042 a0002c0002t0001g0182 others(12): Show |
17 | 189 | 0.0899 | -3 | c.-50 others(12): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 413 | chr10 | TogoVar | |||||||
ACSM6_chr10_95189238_95233929 | 95208699 | TTTG | T | intron_variant | MODIFIER | HG01109.hp1 HG03453.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 3 | 312 | 0.0096 | -3 | c.611 others(20): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSM6_chr10_95189238_95233929 | 95208933 | TAAA | T | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp2 HG01257.hp2 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0035 a0003c0003t0001g0148 a0003c0003t0001g0149 others(7): Show |
11 | 21 | 0.5238 | -3 | c.611 others(20): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSS1_chr20_25001237_25063139 | 25041257 | CAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(21): Show |
a0001a0002a0012 | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0001a0001c0003t0003a0001c0010t0003others(4): Show | a0001c0001t0001g0094 a0001c0003t0003g0008 a0001c0003t0003g0013 others(18): Show |
24 | 88 | 0.2727 | -3 | c.431 others(20): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 2/13 | chr20 | TogoVar | |||||||
ACSS1_chr20_25001237_25063139 | 25053230 | ATTT | A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02647.hp1 others(11): Show |
a0002a0004a0005 | a0002c0009a0004c0008a0004c0018others(4): Show | a0002c0009t0001a0004c0008t0001a0004c0018t0002others(4): Show | a0002c0009t0001g0203 a0004c0008t0001g0024 a0004c0008t0001g0029 others(11): Show |
14 | 143 | 0.0979 | -3 | c.334 others(20): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 1/13 | chr20 | TogoVar | |||||||
ACSS2_chr20_34871612_34932959 | 34877818 | CAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01167.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0004others(2): Show | a0001c0002t0001a0001c0003t0001a0002c0004t0001others(2): Show | a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0003t0001g0005 others(27): Show |
34 | 53 | 0.6415 | -3 | c.178 others(20): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34881017 | ATTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0167 a0001c0001t0001g0219 others(10): Show |
14 | 137 | 0.1022 | -3 | c.179 others(20): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34924682 | TTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(208): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(199): Show |
211 | 310 | 0.6806 | -3 | c.165 others(20): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34929810 | TCTC | T | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01169.hp1 others(5): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0001 a0003c0005t0001g0019 a0003c0005t0001g0020 others(3): Show |
8 | 310 | 0.0258 | -3 | c.*25 others(14): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1852 | chr20 | TogoVar | |||||||
ACSS2_chr20_34871612_34932959 | 34930264 | CAAA | C | downstream_gene_variant | MODIFIER | HG02717.hp2 HG02723.hp2 HG03041.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0144 a0002c0004t0001g0145 a0002c0004t0001g0146 others(3): Show |
6 | 216 | 0.0278 | -3 | c.*30 others(14): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2306 | chr20 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81094145 | ATAT | A | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02809.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0152 a0002c0003t0005g0153 a0002c0003t0005g0154 others(3): Show |
6 | 288 | 0.0208 | -3 | c.312 others(22): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81100216 | GTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01168.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0002a0001c0005t0005 | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 others(3): Show |
6 | 84 | 0.0714 | -3 | c.312 others(20): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81103957 | AAAT | A | intron_variant | MODIFIER | HG00597.hp1 HG02027.hp2 HG02040.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(4): Show |
7 | 288 | 0.0243 | -3 | c.312 others(20): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81107557 | TATA | T | intron_variant | MODIFIER | HG02723.hp1 NA18955.hp2 NA19078.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0005 | a0001c0001t0001g0068 a0001c0002t0002g0183 a0002c0003t0005g0281 |
3 | 288 | 0.0104 | -3 | c.312 others(20): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81200698 | CAGA | C | intron_variant | MODIFIER | HG01261.hp2 HG03041.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0013a0001c0008t0002 | a0001c0001t0013g0176 a0001c0008t0002g0133 a0001c0008t0002g0134 |
3 | 288 | 0.0104 | -3 | c.135 others(22): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | chr12 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81209388 | TAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00597.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0055 others(31): Show |
34 | 127 | 0.2677 | -3 | c.135 others(22): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81212509 | TCTC | T | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02717.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0014 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(2): Show | a0001c0001t0001g0074 a0001c0001t0001g0205 a0001c0001t0003g0200 others(4): Show |
7 | 288 | 0.0243 | -3 | c.135 others(22): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81236154 | GTTA | G | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0008a0001c0001t0023a0002c0004t0008 | a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0008g0087 others(4): Show |
7 | 288 | 0.0243 | -3 | c.171 others(22): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88938845 | TAAC | T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01069.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(22): Show |
48 | 400 | 0.1200 | -3 | c.809 others(18): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88941034 | TCTC | T | intron_variant | MODIFIER | HG01109.hp2 HG02027.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0089 others(1): Show |
7 | 400 | 0.0175 | -3 | c.616 others(18): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88948372 | ATAT | A | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01123.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0073 a0001c0001t0001g0104 others(2): Show |
10 | 400 | 0.0250 | -3 | c.129 others(18): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
ACTB_chr7_5522148_5535601 | 5526855 | ACCT | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG02258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0007 | a0001c0001t0001g0056 a0001c0001t0002g0002 a0001c0003t0007g0008 |
7 | 368 | 0.0190 | -3 | c.*89 others(12): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 292 | chr7 | TogoVar | |||||||
ACTC1_chr15_34785230_34800549 | 34786839 | TTCC | T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02615.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0019 |
5 | 494 | 0.0101 | -3 | c.*35 others(14): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 3390 | chr15 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81505794 | ATTT | A | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0006a0001c0003t0001a0001c0006t0004 | a0001c0002t0006g0011 a0001c0003t0001g0002 a0001c0006t0004g0010 others(1): Show |
9 | 70 | 0.1286 | -3 | c.*48 others(14): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 4176 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81507399 | TTTG | T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG00738.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 8 | 368 | 0.0217 | -3 | c.*32 others(14): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 2571 | chr17 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73901998 | TGAG | T | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0029 a0001c0001t0003g0231 a0001c0001t0003g0366 others(6): Show |
9 | 414 | 0.0217 | -3 | c.127 others(18): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73903937 | CTCA | C | intron_variant | MODIFIER | HG00735.hp1 HG02615.hp1 HG02965.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0004 a0001c0002t0006g0055 |
3 | 413 | 0.0073 | -3 | c.255 others(20): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73920533 | TTCC | T | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01167.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0044 a0001c0001t0001g0143 a0001c0001t0001g0350 others(35): Show |
39 | 358 | 0.1089 | -3 | c.*95 others(12): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 669 | chr2 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179574334 | TTAA | T | intron_variant | MODIFIER | HG01255.hp2 HG01258.hp2 HG01975.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0015 a0004c0004t0001g0015 |
4 | 378 | 0.0106 | -3 | c.379 others(16): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6B_chr7_100638097_100661448 | 100652999 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0002 | a0001c0001t0001g0029 a0001c0001t0001g0113 a0001c0001t0001g0114 others(6): Show |
10 | 47 | 0.2128 | -3 | c.369 others(20): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100654432 | CATA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00738.hp2 others(49): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0038 others(35): Show |
52 | 130 | 0.4000 | -3 | c.369 others(18): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL7A_chr9_108857266_108868756 | 108860853 | TCAC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(290): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0001c0012others(9): Show | a0001c0001t0001a0001c0010t0001a0001c0012t0001others(9): Show | a0001c0001t0001g0000 a0001c0010t0001g0000 a0001c0012t0001g0000 others(9): Show |
293 | 480 | 0.6104 | -3 | c.-14 others(14): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 1412 | chr9 | TogoVar | |||||||
ACTL7B_chr9_108849588_108860986 | 108860853 | TCAC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(281): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000 others(7): Show |
284 | 468 | 0.6068 | -3 | c.-49 others(14): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 4868 | chr9 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17760721 | CAGA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp2 others(116): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0039 others(114): Show |
119 | 364 | 0.3269 | -3 | c.-25 others(20): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17775360 | TGGA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp2 others(113): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0042 others(111): Show |
116 | 364 | 0.3187 | -3 | c.-25 others(22): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17776969 | ATTT | A | intron_variant | MODIFIER | HG02572.hp2 HG02723.hp2 HG02818.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(3): Show | a0001c0001t0001g0010 a0001c0003t0001g0207 a0001c0003t0001g0240 others(7): Show |
10 | 57 | 0.1754 | -3 | c.-25 others(22): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17791995 | GCCC | G | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG02257.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0356 others(13): Show |
16 | 364 | 0.0440 | -3 | c.-24 others(22): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17800583 | CTTT | C | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG03195.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0006a0001c0005t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0328 others(4): Show |
7 | 133 | 0.0526 | -3 | c.-24 others(22): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17803223 | TCTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG01070.hp1 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0052 others(34): Show |
38 | 364 | 0.1044 | -3 | c.-24 others(22): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40752579 | CAAA | C | upstream_gene_variant | MODIFIER | HG01123.hp1 HG02109.hp1 HG02257.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0005g0005 others(8): Show |
16 | 107 | 0.1495 | -3 | c.-27 others(14): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2103 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40753384 | GTTT | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(154): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0019 others(48): Show |
157 | 233 | 0.6738 | -3 | c.-35 others(14): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2908 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40755257 | CTTT | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01243.hp1 HG01258.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0027a0001c0003t0003a0001c0003t0023others(1): Show | a0001c0001t0027g0037 a0001c0003t0003g0003 a0001c0003t0003g0008 others(3): Show |
10 | 243 | 0.0412 | -3 | c.-54 others(14): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4781 | chr19 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68869420 | CTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(119): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0152 others(118): Show |
122 | 128 | 0.9531 | -3 | c.*54 others(14): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 4707 | chr14 | TogoVar |