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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLCC1_chr1_108924505_108968484 | 108956874 | T | TGGGAGGC others(33): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0217 | 1 | 394 | 0.0025 | 40 | c.-12 others(57): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
CLCN3_chr4_169615578_169728673 | 169679327 | C | CGGGATGG others(33): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18747.hp2 NA18994.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0137a0001c0001t0001g0139others(2): Show | 5 | 288 | 0.0174 | 40 | c.161 others(55): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10216897 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0177 | 1 | 264 | 0.0038 | 40 | c.197 others(59): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10216918 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0065 | 1 | 264 | 0.0038 | 40 | c.197 others(59): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10216918 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0132 | 1 | 264 | 0.0038 | 40 | c.197 others(59): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLEC4G_chr19_7723957_7737110 | 7732906 | A | AAAAAAAA others(33): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 432 | 0.0023 | 40 | c.-80 others(49): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 797 | chr19 | TogoVar | ||||||
CLEC4G_chr19_7723957_7737110 | 7732906 | A | AAAAAAAA others(33): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 432 | 0.0023 | 40 | c.-80 others(49): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 797 | chr19 | TogoVar | ||||||
CLEC4G_chr19_7723957_7737110 | 7732906 | A | AAAAAAAA others(33): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 HG02145.hp2 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0004 | a0001c0001t0001g0001a0004c0009t0004g0018 | 2 | 432 | 0.0046 | 40 | c.-80 others(49): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 797 | chr19 | TogoVar | ||||||
CLEC4G_chr19_7723957_7737110 | 7732906 | A | AAAAAATA others(33): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 432 | 0.0023 | 40 | c.-80 others(49): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 797 | chr19 | TogoVar | ||||||
CLEC9A_chr12_10025682_10071031 | 10029259 | G | GTGTATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 1 | 406 | 0.0025 | 40 | c.-20 others(51): Show |
CLEC9A | ENSG00000197992.7 | transcript | ENST00000355819.6 | protein_coding | 1422 | chr12 | TogoVar | ||||||
CLIC5_chr6_45893456_46020860 | 45958437 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0026 | 1 | 340 | 0.0029 | 40 | c.64- others(55): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
CLIC5_chr6_45893456_46020860 | 45958439 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 340 | 0.0029 | 40 | c.64- others(55): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
CLIC6_chr21_34663994_34723223 | 34716862 | T | TCTCTCTC others(33): Show |
3_prime_UTR_variant | MODIFIER | HG02809.hp1 | a0015 | a0015c0032 | a0015c0032t0059 | a0015c0032t0059g0030 | 1 | 312 | 0.0032 | 40 | c.*38 others(49): Show |
CLIC6 | ENSG00000159212.13 | transcript | ENST00000349499.3 | protein_coding | 6/6 | 382 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
CLIP2_chr7_74284407_74410935 | 74361176 | T | TTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0097a0001c0002t0001g0105a0001c0002t0001g0118others(2): Show | 5 | 278 | 0.0180 | 40 | c.131 others(57): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLIP2_chr7_74284407_74410935 | 74361205 | T | TTCCTTCC others(33): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0068 | 1 | 278 | 0.0036 | 40 | c.131 others(57): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLMN_chr14_95176940_95324908 | 95245610 | G | GGATAGGT others(33): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00738.hp1 others(64): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(37): Show | a0001c0001t0001g0056a0001c0001t0001g0096a0001c0001t0001g0098others(60): Show | 67 | 276 | 0.2428 | 40 | c.83- others(57): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
CLMN_chr14_95176940_95324908 | 95293374 | T | TTCCCTCC others(33): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01169.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0008a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(6): Show | a0001c0001t0001g0161a0001c0001t0005g0269a0001c0001t0009g0191others(6): Show | 11 | 276 | 0.0399 | 40 | c.82+ others(57): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123150416 | T | TAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 254 | 0.0039 | 40 | c.28+ others(57): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123150480 | A | AAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0099a0001c0001t0003g0112 | 2 | 254 | 0.0079 | 40 | c.28+ others(57): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123150480 | A | AAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0058a0001c0001t0004g0032 | 2 | 254 | 0.0079 | 40 | c.28+ others(57): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLN6_chr15_68201992_68234728 | 68229767 | A | AGCGGAGC others(33): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG01433.hp2 HG01496.hp2 others(16): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0015others(14): Show | 19 | 324 | 0.0586 | 40 | c.-18 others(49): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 40 | chr15 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10535213 | G | GAGAAAGA others(33): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0038 | 1 | 320 | 0.0031 | 40 | c.603 others(57): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537702 | C | CCTTTCTT others(33): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0099 | 1 | 320 | 0.0031 | 40 | c.602 others(57): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0225 | 1 | 320 | 0.0031 | 40 | c.602 others(57): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(33): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0220 | 1 | 320 | 0.0031 | 40 | c.602 others(57): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18960.hp1 NA18982.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0029a0001c0001t0075a0001c0004t0021 | a0001c0001t0029g0259a0001c0001t0075g0131a0001c0004t0021g0102 | 3 | 320 | 0.0094 | 40 | c.602 others(57): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(33): Show |
intron_variant | MODIFIER | NA18998.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012 | a0001c0001t0011g0033a0001c0001t0012g0034 | 2 | 320 | 0.0063 | 40 | c.602 others(57): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0006 | 1 | 320 | 0.0031 | 40 | c.602 others(57): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01515.hp1 HG01517.hp1 others(9): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0003g0203a0001c0001t0003g0205a0001c0001t0004g0067others(9): Show | 12 | 320 | 0.0375 | 40 | c.602 others(57): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTTCTT others(33): Show |
intron_variant | MODIFIER | HG00280.hp2 NA18945.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0085a0001c0001t0003g0207a0001c0001t0009g0123 | 3 | 320 | 0.0094 | 40 | c.602 others(57): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10616790 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0115 | 1 | 320 | 0.0031 | 40 | c.12- others(57): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10654384 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01071.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0041others(3): Show | a0001c0001t0003g0191a0001c0001t0003g0228a0001c0001t0003g0236others(7): Show | 10 | 320 | 0.0313 | 40 | c.11+ others(57): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CLPS_chr6_35789982_35802323 | 35800184 | T | TTTTTTTT others(33): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 418 | 0.0024 | 40 | c.-28 others(51): Show |
CLPS | ENSG00000137392.10 | transcript | ENST00000259938.7 | protein_coding | 2862 | chr6 | TogoVar | ||||||
CLRN1_chr3_150921567_150977727 | 150969313 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0154 | 1 | 408 | 0.0025 | 40 | c.253 others(57): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140427184 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0092 | 1 | 110 | 0.0091 | 40 | c.787 others(57): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLUAP1_chr16_3496004_3544048 | 3529677 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0210 | 5 | 382 | 0.0131 | 40 | c.929 others(55): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CLUL1_chr18_591988_655182 | 627030 | A | AGAGAGAG others(33): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0354 | 1 | 414 | 0.0024 | 40 | c.424 others(53): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123040769 | A | AAAAAGAA others(33): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0036 | 1 | 336 | 0.0030 | 40 | c.565 others(57): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CMPK1_chr1_47328790_47383839 | 47338517 | C | CTCCCTCC others(33): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02615.hp1 HG02717.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0016 | a0002c0002t0001g0083a0002c0002t0001g0084a0002c0002t0001g0085others(2): Show | 5 | 364 | 0.0137 | 40 | c.171 others(57): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CMTM4_chr16_66609750_66701743 | 66633104 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02559.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0105a0001c0001t0001g0106others(1): Show | 4 | 320 | 0.0125 | 40 | c.363 others(57): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
CMTM4_chr16_66609750_66701743 | 66683192 | T | TATACGTA others(33): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0240 | 1 | 320 | 0.0031 | 40 | c.186 others(59): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87307747 | A | AAATTATA others(33): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 152 | 0.0066 | 40 | c.104 others(61): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87368161 | A | AAAAAGAA others(33): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03195.hp1 HG03453.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0087a0002c0005t0001g0082a0002c0005t0001g0084others(1): Show | 4 | 152 | 0.0263 | 40 | c.130 others(61): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNDP1_chr18_74529500_74592212 | 74573432 | C | CCATCCAT others(33): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02965.hp2 others(1): Show |
a0004a0010a0018 | a0004c0010a0010c0024a0018c0045 | a0004c0010t0010a0004c0010t0012a0010c0024t0010others(1): Show | a0004c0010t0010g0100a0004c0010t0012g0081a0010c0024t0010g0084others(1): Show | 4 | 390 | 0.0103 | 40 | c.841 others(57): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 7/11 | chr18 | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151742929 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0109 | 1 | 336 | 0.0030 | 40 | c.590 others(55): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNGA2_chrX_151729746_151750564 | 151742929 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03139.hp1 HG03831.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0029a0003c0003t0002g0053a0003c0003t0002g0068 | 4 | 336 | 0.0119 | 40 | c.590 others(55): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNGA2_chrX_151729746_151750564 | 151742939 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 | 1 | 336 | 0.0030 | 40 | c.590 others(55): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNGA2_chrX_151729746_151750564 | 151742962 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 336 | 0.0030 | 40 | c.590 others(55): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNGB1_chr16_57877340_57976128 | 57879787 | T | TTCTTTCT others(33): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0095 | 1 | 360 | 0.0028 | 40 | c.*43 others(51): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2552 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879799 | C | CCTTTCTT others(33): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275a0001c0001t0001g0276 | 2 | 360 | 0.0056 | 40 | c.*43 others(51): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2540 | chr16 | TogoVar |