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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADA2_chr22_17173790_17224435 | 17178458 | A | AAAAC | downstream_gene_variant | MODIFIER | HG03688.hp2 NA18967.hp1 NA18978.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0005a0001c0001t0016a0001c0001t0025others(3): Show | a0001c0001t0005g0101a0001c0001t0005g0114a0001c0001t0016g0337others(5): Show | 8 | 408 | 0.0196 | 4 | c.*30 others(15): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 331 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17183955 | C | CTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02559.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(11): Show | a0001c0001t0001g0043a0001c0001t0004g0338a0001c0001t0016g0382others(17): Show | 20 | 408 | 0.0490 | 4 | c.108 others(23): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17186847 | T | TGACA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(368): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(102): Show | a0001c0001t0001g0016a0001c0001t0001g0043a0001c0001t0001g0055others(365): Show | 371 | 408 | 0.9093 | 4 | c.108 others(23): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17202764 | C | CCTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(136): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0001g0075a0001c0001t0001g0084a0001c0001t0001g0153others(135): Show | 139 | 408 | 0.3407 | 4 | c.753 others(19): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17212956 | A | ATTTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0214others(12): Show | 16 | 408 | 0.0392 | 4 | c.-46 others(21): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17216789 | C | CACAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(234): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(62): Show | a0001c0001t0001g0094a0001c0001t0001g0112a0001c0001t0001g0113others(231): Show | 237 | 408 | 0.5809 | 4 | c.-47 others(21): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122398317 | G | GGTGT | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01069.hp1 others(13): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0015a0001c0001t0001g0038a0001c0001t0001g0039others(12): Show | 16 | 376 | 0.0426 | 4 | c.724 others(21): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADAD1_chr4_122374011_122434784 | 122401278 | A | ATTAT | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01106.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0029a0001c0001t0001g0036others(23): Show | 28 | 376 | 0.0745 | 4 | c.724 others(21): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADAD1_chr4_122374011_122434784 | 122413851 | C | CATAT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(93): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0010others(78): Show | 96 | 376 | 0.2553 | 4 | c.124 others(23): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADAD1_chr4_122374011_122434784 | 122428082 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(187): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0011others(161): Show | 190 | 376 | 0.5053 | 4 | c.161 others(23): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADAD2_chr16_84186157_84202166 | 84197184 | C | CTGTG | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01175.hp1 HG01243.hp1 others(5): Show |
a0001a0002a0007others(1): Show | a0001c0002a0002c0008a0007c0014others(1): Show | a0001c0002t0001a0002c0008t0002a0007c0014t0001others(1): Show | a0001c0002t0001g0001a0002c0008t0002g0009a0007c0014t0001g0030others(1): Show | 8 | 470 | 0.0170 | 4 | c.*21 others(13): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 19 | chr16 | TogoVar | ||||||
ADAL_chr15_43325672_43359569 | 43334633 | T | TTATA | intron_variant | MODIFIER | HG01081.hp1 HG03486.hp2 NA19000.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0002t0001 | a0001c0001t0022g0138a0001c0002t0001g0139a0001c0002t0001g0140 | 3 | 386 | 0.0078 | 4 | c.-16 others(21): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAL_chr15_43325672_43359569 | 43345369 | A | AAAAG | intron_variant | MODIFIER | HG01167.hp2 HG01928.hp1 HG01943.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0002g0016a0001c0001t0002g0186a0001c0001t0007g0042others(7): Show | 14 | 386 | 0.0363 | 4 | c.426 others(19): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAL_chr15_43325672_43359569 | 43357270 | G | GTTTT | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02258.hp2 HG02622.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0015others(1): Show | a0001c0001t0002g0001a0001c0001t0004g0022a0001c0001t0004g0058others(3): Show | 6 | 386 | 0.0155 | 4 | c.*53 others(15): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 2702 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58586912 | A | AGTGT | downstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02004.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0076a0001c0001t0104others(1): Show | a0001c0001t0002g0103a0001c0001t0002g0148a0001c0001t0002g0156others(3): Show | 6 | 342 | 0.0175 | 4 | c.*10 others(17): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1896 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58586916 | A | AGTGT | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01952.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0003g0189a0001c0001t0004g0269a0001c0001t0005g0219others(33): Show | 36 | 342 | 0.1053 | 4 | c.*10 others(17): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1892 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58586949 | G | GTGTA | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02559.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0025others(4): Show | a0001c0001t0015g0334a0001c0001t0015g0338a0001c0001t0015g0339others(8): Show | 11 | 342 | 0.0322 | 4 | c.*10 others(17): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1859 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58618244 | G | GACAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(281): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0007a0001c0001t0001g0056a0001c0001t0001g0057others(281): Show | 284 | 342 | 0.8304 | 4 | c.151 others(23): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 11/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58647248 | A | ATTTT | intron_variant | MODIFIER | HG00735.hp2 HG03491.hp2 HG03492.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0096others(2): Show | a0001c0001t0001g0062a0001c0001t0001g0175a0001c0001t0002g0107others(4): Show | 7 | 342 | 0.0205 | 4 | c.586 others(21): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58655695 | A | AGTGT | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01346.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0124a0001c0001t0001g0136a0001c0001t0001g0153others(9): Show | 12 | 342 | 0.0351 | 4 | c.585 others(21): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58672070 | T | TCATG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(260): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0007a0001c0001t0001g0056a0001c0001t0001g0057others(260): Show | 263 | 342 | 0.7690 | 4 | c.485 others(21): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 4/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58683859 | C | CAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(94): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0184a0001c0001t0003g0188a0001c0001t0003g0237others(94): Show | 97 | 342 | 0.2836 | 4 | c.207 others(21): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58685463 | C | CAATA | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02572.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0045others(7): Show | a0001c0001t0003g0249a0001c0001t0014g0278a0001c0001t0045g0088others(9): Show | 12 | 342 | 0.0351 | 4 | c.207 others(21): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58685545 | A | AATAT | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01256.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0034others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0056a0001c0001t0006g0018others(7): Show | 10 | 342 | 0.0292 | 4 | c.207 others(21): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58688766 | T | TTATA | intron_variant | MODIFIER | HG00735.hp2 HG01256.hp1 HG01256.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0046a0001c0001t0111 | a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0062others(2): Show | 5 | 342 | 0.0146 | 4 | c.207 others(21): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58714292 | T | TACAC | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01069.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0108a0001c0001t0001g0135a0001c0001t0001g0136others(39): Show | 42 | 342 | 0.1228 | 4 | c.206 others(21): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58719493 | C | CAAGT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(177): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(67): Show | a0001c0001t0001g0100a0001c0001t0001g0106a0001c0001t0001g0108others(177): Show | 180 | 342 | 0.5263 | 4 | c.56- others(19): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58726566 | C | CAAAA | intron_variant | MODIFIER | HG00544.hp1 HG01943.hp1 HG04115.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0055others(1): Show | a0001c0001t0004g0259a0001c0001t0008g0215a0001c0001t0055g0216others(1): Show | 4 | 342 | 0.0117 | 4 | c.56- others(19): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58726567 | C | CAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02083.hp2 HG02258.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013a0001c0001t0015others(16): Show | a0001c0001t0007g0303a0001c0001t0007g0304a0001c0001t0007g0306others(30): Show | 33 | 342 | 0.0965 | 4 | c.56- others(19): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58729958 | T | TAAAA | intron_variant | MODIFIER | HG01981.hp1 HG02027.hp1 HG02055.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0237a0001c0001t0003g0238a0001c0001t0003g0239others(11): Show | 14 | 342 | 0.0409 | 4 | c.56- others(21): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58750454 | T | TTCTC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(251): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(87): Show | a0001c0001t0001g0100a0001c0001t0001g0106a0001c0001t0001g0108others(251): Show | 254 | 342 | 0.7427 | 4 | c.-92 others(13): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 748 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58750657 | C | CGTGT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(191): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0100a0001c0001t0001g0106a0001c0001t0001g0108others(191): Show | 194 | 342 | 0.5673 | 4 | c.-11 others(15): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 951 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58750792 | A | AGTGT | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0158a0001c0001t0001g0183a0001c0001t0002g0107others(20): Show | 23 | 342 | 0.0673 | 4 | c.-12 others(15): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1086 | chr15 | TogoVar | ||||||
ADAM11_chr17_44753988_44786846 | 44765610 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG01074.hp1 others(18): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0002t0010others(2): Show | a0001c0002t0002g0173a0001c0002t0003g0031a0001c0002t0003g0127others(17): Show | 21 | 336 | 0.0625 | 4 | c.238 others(21): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ADAM11_chr17_44753988_44786846 | 44778713 | A | AAAAG | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01109.hp1 others(14): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0013 | a0001c0001t0001a0001c0001t0005a0001c0004t0005others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0099a0001c0001t0001g0209others(13): Show | 17 | 336 | 0.0506 | 4 | c.227 others(21): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 25/26 | chr17 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126014312 | G | GTTTT | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01928.hp2 others(7): Show |
a0001a0002a0003 | a0001c0003a0002c0005a0002c0023others(2): Show | a0001c0003t0012a0001c0003t0016a0002c0005t0012others(4): Show | a0001c0003t0012g0089a0001c0003t0012g0134a0001c0003t0016g0048others(7): Show | 10 | 252 | 0.0397 | 4 | c.*29 others(15): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 23/23 | 2966 | chr10 | TogoVar | |||||
ADAM12_chr10_126007391_126393477 | 126020992 | C | CAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0004a0001c0014others(12): Show | a0001c0003t0003a0001c0003t0009a0001c0003t0012others(23): Show | a0001c0003t0003g0025a0001c0003t0003g0041a0001c0003t0003g0088others(35): Show | 38 | 252 | 0.1508 | 4 | c.253 others(23): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 21/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126021655 | A | ATTGT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(122): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0004others(29): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0017others(56): Show | a0001c0002t0001g0042a0001c0002t0001g0044a0001c0002t0001g0065others(122): Show | 125 | 252 | 0.4960 | 4 | c.253 others(23): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 21/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126032048 | A | ATAAG | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02895.hp2 others(2): Show |
a0001a0007 | a0001c0020a0001c0021a0007c0056 | a0001c0020t0021a0001c0020t0050a0001c0021t0021others(1): Show | a0001c0020t0021g0174a0001c0020t0050g0187a0001c0021t0021g0076others(2): Show | 5 | 252 | 0.0198 | 4 | c.252 others(23): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 21/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126037285 | C | CTTTT | intron_variant | MODIFIER | HG01099.hp1 HG01169.hp2 HG02109.hp1 others(14): Show |
a0001a0002a0010 | a0001c0002a0001c0004a0001c0012others(5): Show | a0001c0002t0008a0001c0004t0023a0001c0012t0014others(5): Show | a0001c0002t0008g0017a0001c0002t0008g0201a0001c0002t0008g0211others(14): Show | 17 | 252 | 0.0675 | 4 | c.234 others(21): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 20/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126038952 | C | CTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00621.hp2 others(19): Show |
a0001a0002a0004 | a0001c0003a0001c0009a0001c0014others(6): Show | a0001c0003t0007a0001c0003t0010a0001c0003t0035others(13): Show | a0001c0003t0007g0028a0001c0003t0007g0033a0001c0003t0007g0087others(19): Show | 22 | 252 | 0.0873 | 4 | c.224 others(21): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 19/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126049988 | G | GTGGC | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp2 HG01109.hp1 others(21): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0003a0001c0026others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(10): Show | a0001c0002t0001g0065a0001c0002t0001g0066a0001c0002t0001g0143others(21): Show | 24 | 252 | 0.0952 | 4 | c.161 others(21): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126051520 | T | TCCAG | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02717.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0001c0002t0019a0002c0001t0001 | a0001c0002t0002g0186a0001c0002t0019g0188a0002c0001t0001g0007 | 3 | 252 | 0.0119 | 4 | c.161 others(23): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126051536 | C | CCCAT | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp2 HG01123.hp1 others(3): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0026others(2): Show | a0001c0002t0001a0001c0003t0035a0001c0026t0001others(2): Show | a0001c0002t0001g0217a0001c0003t0035g0084a0001c0026t0001g0075others(3): Show | 6 | 252 | 0.0238 | 4 | c.161 others(23): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126051580 | T | TCCAG | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp2 HG03041.hp2 others(1): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0006others(1): Show | a0001c0002t0011a0001c0004t0011a0002c0006t0011others(1): Show | a0001c0002t0011g0178a0001c0004t0011g0177a0002c0006t0011g0086others(1): Show | 4 | 252 | 0.0159 | 4 | c.161 others(23): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126051584 | T | TCCAG | intron_variant | MODIFIER | HG02055.hp1 HG02809.hp2 HG03579.hp1 |
a0001a0002a0016 | a0001c0002a0002c0001a0016c0043 | a0001c0002t0011a0002c0001t0049a0016c0043t0001 | a0001c0002t0011g0191a0002c0001t0049g0141a0016c0043t0001g0098 | 3 | 252 | 0.0119 | 4 | c.161 others(23): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126082363 | G | GTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(70): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0004others(20): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0011others(45): Show | a0001c0002t0001g0044a0001c0002t0001g0066a0001c0002t0001g0101others(70): Show | 73 | 252 | 0.2897 | 4 | c.114 others(25): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126086704 | T | TATAA | intron_variant | MODIFIER | HG02109.hp2 NA19004.hp1 NA19063.hp1 |
a0001a0002a0003 | a0001c0010a0002c0007a0003c0018 | a0001c0010t0001a0002c0007t0005a0003c0018t0003 | a0001c0010t0001g0216a0002c0007t0005g0239a0003c0018t0003g0126 | 3 | 252 | 0.0119 | 4 | c.114 others(23): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126121130 | A | AGTAT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(115): Show |
a0001a0002a0005others(6): Show | a0001c0002a0001c0003a0001c0004others(26): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(66): Show | a0001c0002t0001g0065a0001c0002t0001g0066a0001c0002t0001g0101others(115): Show | 118 | 252 | 0.4683 | 4 | c.417 others(21): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126124895 | C | CAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp2 others(29): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0003a0001c0009others(14): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0025others(23): Show | a0001c0002t0001g0101a0001c0002t0001g0212a0001c0002t0001g0217others(29): Show | 32 | 252 | 0.1270 | 4 | c.417 others(21): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar |