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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAG6_chr6_31634028_31657661 | 31638543 | CAAAATAC others(14): Show |
C | downstream_gene_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0101 | 1 | 427 | 0.0023 | -21 | c.*56 others(30): Show |
BAG6 | ENSG00000204463.14 | transcript | ENST00000676615.2 | protein_coding | 484 | chr6 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81031040 | TTGCTGGT others(14): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0001g0006a0001c0001t0003g0176a0001c0001t0013g0230others(3): Show | 6 | 376 | 0.0160 | -21 | c.-42 others(32): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 4110 | chr17 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101839937 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG03704.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0003 | a0001c0001t0002g0089a0002c0003t0003g0237 | 2 | 284 | 0.0070 | -21 | c.469 others(38): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BARD1_chr2_214720646_214814683 | 214780778 | GTGGTGAA others(14): Show |
G | conservative_inframe_deletion | MODERATE | HG00609.hp2 HG00621.hp2 HG00735.hp2 others(23): Show |
a0003a0014a0021 | a0003c0005a0014c0016a0021c0024 | a0003c0005t0005a0003c0005t0006a0003c0005t0034others(7): Show | a0003c0005t0005g0101a0003c0005t0006g0016a0003c0005t0006g0242others(22): Show | 26 | 362 | 0.0718 | -21 | c.107 others(30): Show |
p.Leu others(13): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 4/11 | 1209/5478 | 1075/2334 | 359/777 | chr2 | TogoVar | ||
BAX_chr19_48949875_48966798 | 48962781 | CCCCCTCT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG02818.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0035a0001c0001t0001g0036others(4): Show | 10 | 418 | 0.0239 | -21 | c.*11 others(32): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 984 | chr19 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34836378 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 380 | 0.0026 | -21 | c.393 others(40): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1B_chr7_73435406_73527293 | 73456937 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG02451.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0170others(2): Show | 5 | 200 | 0.0250 | -21 | c.343 others(40): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 13/19 | chr7 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56597616 | CACACAGC others(14): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0067 | a0001c0003t0067g0236 | 1 | 316 | 0.0032 | -21 | c.*98 others(31): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 981 | chr12 | TogoVar | |||||
BBS2_chr16_56479385_56525024 | 56508701 | AGTGGCGT others(14): Show |
A | intron_variant | MODIFIER | HG02615.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0079 | 2 | 398 | 0.0050 | -21 | c.612 others(38): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169489851 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0167 | 1 | 398 | 0.0025 | -21 | c.386 others(38): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107555945 | AATTTAAA others(14): Show |
A | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0205 | 1 | 222 | 0.0045 | -21 | c.-84 others(40): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107769220 | AGATAGAT others(14): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0048a0001c0001t0020g0098 | 2 | 222 | 0.0090 | -21 | c.907 others(38): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BCAS2_chr1_114562557_114586615 | 114584554 | ACGTGAGC others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 414 | 0.0024 | -21 | c.-29 others(32): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 2940 | chr1 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50796473 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 270 | 0.0037 | -21 | c.90+ others(36): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17680521 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02717.hp2 HG02896.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0062others(1): Show | a0001c0001t0002g0099a0001c0001t0002g0175a0001c0001t0007g0108others(6): Show | 9 | 306 | 0.0294 | -21 | c.122 others(38): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715150 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02698.hp2 HG02818.hp2 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0020 | a0001c0001t0008g0227a0001c0001t0008g0230a0001c0001t0020g0224 | 3 | 306 | 0.0098 | -21 | c.601 others(40): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715152 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0020 | a0001c0001t0002g0111a0001c0001t0002g0128a0001c0001t0013g0165others(1): Show | 4 | 306 | 0.0131 | -21 | c.601 others(40): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715154 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0077 | 1 | 306 | 0.0033 | -21 | c.601 others(40): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715156 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03710.hp2 NA19079.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0006 | a0001c0001t0008g0223a0001c0002t0006g0073 | 2 | 306 | 0.0065 | -21 | c.601 others(40): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715158 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0090 | 1 | 306 | 0.0033 | -21 | c.601 others(40): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2_chr18_63118346_63324769 | 63220250 | TGATCTAG others(14): Show |
T | intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0096 | 1 | 264 | 0.0038 | -21 | c.586 others(40): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23180773 | CCCGCGCG others(14): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0003 | a0002c0003t0053 | a0002c0003t0053g0118 | 1 | 296 | 0.0034 | -21 | c.-18 others(30): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/23 | 163 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
BDH1_chr3_197504783_197560968 | 197510663 | TGTGTGTG others(14): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG03486.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0137a0001c0001t0138a0001c0001t0230 | a0001c0001t0137g0220a0001c0001t0138g0044a0001c0001t0230g0071 | 3 | 319 | 0.0094 | -21 | c.*12 others(32): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1211 | chr3 | TogoVar | |||||
BEAN1_chr16_66422295_66487833 | 66445475 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG02630.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0034a0001c0001t0001g0036a0001c0001t0001g0129others(12): Show | 17 | 298 | 0.0571 | -21 | c.25+ others(36): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BEND3_chr6_107060182_107120515 | 107082730 | AGTGGTTG others(14): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0198 | 1 | 368 | 0.0027 | -21 | c.241 others(40): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102158141 | CTTCTTCT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02683.hp2 HG03239.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003 | 3 | 324 | 0.0093 | -21 | c.-24 others(32): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2165 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102158144 | CTTCTTCT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01891.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0004g0024 | 7 | 324 | 0.0216 | -21 | c.-24 others(32): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2168 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102158147 | CTTCTTCT others(14): Show |
C | upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 324 | 0.0031 | -21 | c.-24 others(32): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2171 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102158150 | CTTCTTAT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02074.hp1 NA18965.hp1 NA18966.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 324 | 0.0154 | -21 | c.-24 others(32): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2174 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102158153 | CTTATTAT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 NA18959.hp1 NA18984.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005 | 4 | 324 | 0.0124 | -21 | c.-24 others(32): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2177 | chrX | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58512996 | GCGGCGGC others(14): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0052 | a0002c0002t0052g0084 | 1 | 132 | 0.0076 | -21 | c.-14 others(30): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/21 | 120 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
BICC1_chr10_58507872_58836435 | 58521768 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG02683.hp1 | a0008 | a0008c0012 | a0008c0012t0017 | a0008c0012t0017g0017 | 1 | 132 | 0.0076 | -21 | c.190 others(38): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58631489 | TTCTTTCT others(14): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0131 | 1 | 132 | 0.0076 | -21 | c.237 others(40): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58642666 | TTTATTAT others(14): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0003 | a0002c0003t0037 | a0002c0003t0037g0111 | 1 | 132 | 0.0076 | -21 | c.237 others(40): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58756626 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00639.hp1 others(66): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0081a0001c0001t0001g0083a0001c0001t0001g0087others(66): Show | 69 | 132 | 0.5227 | -21 | c.308 others(40): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32384650 | TTTCTTCT others(14): Show |
T | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0097 | 1 | 290 | 0.0035 | -21 | c.*70 others(32): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1018 | chr12 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG00544.hp2 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0108 | 2 | 270 | 0.0074 | -21 | c.184 others(40): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BID_chr22_17729138_17779469 | 17756411 | TCTTTCTT others(14): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 362 | 0.0028 | -21 | c.-58 others(38): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127044215 | TCACATTC others(14): Show |
T | downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0232 | 1 | 344 | 0.0029 | -21 | c.*42 others(32): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 3816 | chr2 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122321979 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 336 | 0.0030 | -21 | c.109 others(42): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLVRB_chr19_40442768_40470745 | 40459327 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG02145.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(3): Show | 7 | 362 | 0.0193 | -21 | c.80- others(34): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15591957 | TATATCTA others(14): Show |
T | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02280.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0015a0001c0004t0010 | a0001c0001t0015g0009a0001c0004t0010g0116a0001c0004t0010g0118others(1): Show | 4 | 291 | 0.0138 | -21 | c.*51 others(32): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3699 | chr16 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813109 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0012 | 1 | 308 | 0.0033 | -21 | c.665 others(40): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57216549 | CGAGGGGC others(14): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 272 | 0.0037 | -21 | c.611 others(40): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57216597 | GCTGTCTC others(14): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0255a0001c0001t0004g0256a0001c0001t0006g0247others(3): Show | 6 | 272 | 0.0221 | -21 | c.611 others(40): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34011584 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0112 | 1 | 232 | 0.0043 | -21 | c.577 others(40): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86790171 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0160 | 1 | 278 | 0.0036 | -21 | c.-26 others(42): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86790177 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0001 | a0002c0001t0019 | a0002c0001t0019g0138 | 1 | 278 | 0.0036 | -21 | c.-26 others(42): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86790189 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0260 | 1 | 278 | 0.0036 | -21 | c.-26 others(42): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86835549 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG01515.hp2 HG03017.hp2 NA18970.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0002c0001t0002 | a0001c0002t0003g0091a0002c0001t0002g0223a0002c0001t0002g0257 | 3 | 278 | 0.0108 | -21 | c.-26 others(40): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |