| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CAMSAP2_chr1_200733893_200865704 | 200738940 | A | AGCGGCGG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(114): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(8): Show | a0001c0001t0002g0184a0001c0001t0004g0008a0001c0001t0004g0009others(113): Show | 117 | 366 | 0.3197 | 9 | c.-87 others(18): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 1/17 | 870 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
| CAMTA1_chr1_6780454_7774706 | 6937795 | C | CCATCACC others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01243.hp1 others(30): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0013others(30): Show | 33 | 58 | 0.5690 | 9 | c.234 others(30): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 7013209 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG02004.hp1 others(9): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(9): Show | a0001c0001t0002g0036a0001c0001t0003g0047a0001c0001t0012g0051others(9): Show | 12 | 58 | 0.2069 | 9 | c.235 others(28): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 7284126 | G | GTTCTTCT others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0002a0001c0016t0024 | a0001c0001t0002g0009a0001c0016t0024g0053 | 2 | 58 | 0.0345 | 9 | c.438 others(28): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAND1_chr12_67264358_67324953 | 67311230 | A | AGGTTTAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0020a0001c0001t0021a0001c0001t0061others(22): Show | a0001c0001t0020g0022a0001c0001t0020g0037a0001c0001t0020g0088others(82): Show | 127 | 328 | 0.3872 | 9 | c.336 others(26): Show |
CAND1 | ENSG00000111530.13 | transcript | ENST00000545606.6 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CANT1_chr17_78986716_79014764 | 78987377 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00621.hp2 others(22): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0002a0001c0002t0007a0001c0002t0018others(2): Show | a0001c0002t0002g0012a0001c0002t0002g0013a0001c0002t0002g0028others(19): Show | 25 | 394 | 0.0635 | 9 | c.*61 others(20): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 4338 | chr17 | TogoVar | ||||||
| CAP1_chr1_40035729_40077648 | 40035891 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG02622.hp1 HG02717.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0012others(2): Show | a0001c0001t0003g0184a0001c0001t0003g0201a0001c0001t0003g0204others(6): Show | 11 | 378 | 0.0291 | 9 | c.-49 others(20): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 4837 | chr1 | TogoVar | ||||||
| CAP2_chr6_17388595_17562780 | 17440606 | C | CTGTGTGG others(2): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01952.hp2 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105a0001c0001t0002g0121a0001c0001t0002g0157 | 3 | 206 | 0.0146 | 9 | c.222 others(28): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CAPN12_chr19_38725192_38749474 | 38728410 | G | GCTCCTCC others(2): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 HG02572.hp1 HG03491.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0004 | a0001c0001t0001g0006a0001c0001t0001g0109a0001c0001t0001g0137others(2): Show | 5 | 342 | 0.0146 | 9 | c.*24 others(20): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 1781 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38736008 | A | AGGTCTCG others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG02056.hp1 others(20): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(6): Show | a0001c0001t0001g0049a0001c0001t0001g0064a0001c0001t0001g0238others(20): Show | 23 | 342 | 0.0673 | 9 | c.158 others(25): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38742850 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01891.hp1 HG01981.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0051others(5): Show | 8 | 342 | 0.0234 | 9 | c.307 others(24): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 2/20 | chr19 | TogoVar | ||||||
| CAPN15_chr16_522712_559636 | 551155 | G | GGTGAGGG others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02717.hp1 others(1): Show |
a0001a0004a0009 | a0001c0001a0004c0018a0009c0024 | a0001c0001t0001a0004c0018t0001a0009c0024t0001others(1): Show | a0001c0001t0001g0389a0004c0018t0001g0274a0009c0024t0001g0386others(1): Show | 4 | 410 | 0.0098 | 9 | c.206 others(26): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
| CAPN2_chr1_223707539_223781018 | 223720315 | C | CTCTCTTT others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01993.hp2 HG02451.hp1 others(7): Show |
a0001a0005a0007 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0001a0001c0003t0002a0001c0010t0003others(2): Show | a0001c0002t0001g0323a0001c0002t0001g0324a0001c0003t0002g0332others(7): Show | 10 | 378 | 0.0265 | 9 | c.307 others(26): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN2_chr1_223707539_223781018 | 223741435 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0004a0001c0002t0006g0336a0001c0002t0006g0340 | 4 | 378 | 0.0106 | 9 | c.308 others(26): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
| CAPN5_chr11_77061971_77131155 | 77095255 | G | GCCACCAC others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(143): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0015others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0225a0001c0001t0002g0002a0001c0001t0002g0010others(135): Show | 146 | 382 | 0.3822 | 9 | c.297 others(26): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CAPN6_chrX_111240099_111275483 | 111270389 | C | CCTGCTGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02965.hp1 HG02976.hp2 HG06807.hp1 |
a0002 | a0002c0005a0002c0007 | a0002c0005t0007a0002c0007t0007 | a0002c0005t0007g0051a0002c0005t0007g0053a0002c0007t0007g0052 | 3 | 242 | 0.0124 | 9 | c.-43 others(16): Show |
CAPN6 | ENSG00000077274.9 | transcript | ENST00000324068.2 | protein_coding | 1/13 | 6454 | chrX | TogoVar | |||||
| CAPRIN2_chr12_30704553_30759951 | 30758010 | A | AAATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01891.hp2 HG02258.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0016a0002c0002t0001g0183others(5): Show | 8 | 378 | 0.0212 | 9 | c.-33 others(20): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3060 | chr12 | TogoVar | ||||||
| CAPS2_chr12_75270979_75335324 | 75290936 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(222): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(192): Show | 225 | 370 | 0.6081 | 9 | c.112 others(26): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | ||||||
| CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAAAAT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG01928.hp2 others(22): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0001g0087others(11): Show | 25 | 402 | 0.0622 | 9 | c.137 others(26): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
| CAPS_chr19_5909254_5921211 | 5910675 | A | AAACAACA others(2): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 NA19012.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 396 | 0.0076 | 9 | c.-36 others(20): Show |
CAPS | ENSG00000105519.18 | transcript | ENST00000588776.8 | protein_coding | 3578 | chr19 | TogoVar | ||||||
| CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02145.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0023 | a0001c0001t0001g0249a0001c0001t0002g0145a0001c0001t0002g0146others(7): Show | 10 | 354 | 0.0283 | 9 | c.40- others(24): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CAPZA2_chr7_116857587_116927049 | 116904969 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00741.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(4): Show | a0001c0002t0003g0012a0001c0002t0003g0025a0001c0002t0003g0028others(15): Show | 18 | 354 | 0.0509 | 9 | c.426 others(24): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CAPZA2_chr7_116857587_116927049 | 116919868 | A | AAATAATA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp2 HG02004.hp1 NA19003.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0010 | a0001c0001t0010g0172a0001c0002t0010g0308a0001c0002t0010g0314others(1): Show | 4 | 354 | 0.0113 | 9 | c.*20 others(20): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 10/10 | 2027 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
| CAPZB_chr1_19333775_19490539 | 19363260 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG02040.hp2 others(15): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0063a0001c0002t0001g0098a0001c0002t0002g0279others(15): Show | 18 | 364 | 0.0495 | 9 | c.330 others(26): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
| CAPZB_chr1_19333775_19490539 | 19422729 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG00735.hp1 others(69): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0031others(69): Show | 72 | 364 | 0.1978 | 9 | c.4-2 others(22): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| CARD19_chr9_93091217_93118283 | 93106414 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0114a0001c0001t0002g0006a0001c0001t0002g0042others(22): Show | 40 | 358 | 0.1117 | 9 | c.8-1 others(22): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CARHSP1_chr16_8847947_8874006 | 8851977 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01123.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0020a0001c0002t0019others(1): Show | a0001c0001t0001g0176a0001c0001t0001g0236a0001c0001t0001g0260others(9): Show | 12 | 470 | 0.0255 | 9 | c.*31 others(20): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | ||||||
| CARHSP1_chr16_8847947_8874006 | 8857263 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01515.hp2 HG01517.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0013a0001c0002t0003 | a0001c0001t0003g0019a0001c0001t0003g0326a0001c0001t0003g0354others(3): Show | 7 | 470 | 0.0149 | 9 | c.281 others(26): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
| CARHSP1_chr16_8847947_8874006 | 8857498 | A | ACCATGTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(451): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(420): Show | 454 | 470 | 0.9660 | 9 | c.281 others(24): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
| CARHSP1_chr16_8847947_8874006 | 8861989 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01243.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0036a0001c0002t0002others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0046a0001c0001t0001g0049others(23): Show | 28 | 470 | 0.0596 | 9 | c.-7- others(24): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
| CARHSP1_chr16_8847947_8874006 | 8863286 | C | CATTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(138): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0125a0001c0001t0002g0200a0001c0001t0002g0201others(128): Show | 141 | 470 | 0.3000 | 9 | c.-7- others(24): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
| CARM1_chr19_10866553_10928075 | 10871589 | A | AGCGGCGG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG03579.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0036 | a0001c0001t0013g0017a0001c0001t0013g0201a0001c0001t0013g0209others(4): Show | 7 | 354 | 0.0198 | 9 | c.-72 others(16): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 63 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| CARM1_chr19_10866553_10928075 | 10871610 | G | GGCGGCGG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0003a0001c0001t0022g0126 | 3 | 354 | 0.0085 | 9 | c.-85 others(16): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 84 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| CARMIL1_chr6_25274374_25625530 | 25340777 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02615.hp1 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0005others(1): Show | a0001c0002t0011a0001c0006t0002a0002c0005t0003others(2): Show | a0001c0002t0011g0029a0001c0006t0002g0131a0002c0005t0003g0028others(2): Show | 5 | 186 | 0.0269 | 9 | c.138 others(28): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25408465 | A | AAGATTAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(71): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(41): Show | a0001c0001t0001g0012a0001c0001t0001g0050a0001c0001t0001g0068others(71): Show | 74 | 186 | 0.3979 | 9 | c.139 others(28): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CASK_chrX_41509934_41928554 | 41517770 | T | TAGCAGCA others(2): Show |
3_prime_UTR_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0107 | 1 | 164 | 0.0061 | 9 | c.*26 others(20): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 27/27 | 2649 | chrX | TogoVar | |||||
| CASK_chrX_41509934_41928554 | 41537818 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG03239.hp2 NA18957.hp2 NA18973.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029 | a0001c0001t0002g0009a0001c0001t0002g0012a0001c0001t0002g0013others(5): Show | 8 | 164 | 0.0488 | 9 | c.215 others(28): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 22/26 | chrX | TogoVar | ||||||
| CASK_chrX_41509934_41928554 | 41710132 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | NA18984.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0102 | 2 | 164 | 0.0122 | 9 | c.429 others(28): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar | ||||||
| CASK_chrX_41509934_41928554 | 41729781 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0003 | 1 | 164 | 0.0061 | 9 | c.429 others(26): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar | ||||||
| CASK_chrX_41509934_41928554 | 41869812 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0001g0046a0001c0001t0001g0054a0001c0001t0004g0050others(3): Show | 6 | 164 | 0.0366 | 9 | c.60- others(26): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
| CASP10_chr2_201178141_201226665 | 201192394 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03491.hp2 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0135a0002c0002t0002g0035 | 3 | 322 | 0.0093 | 9 | c.442 others(24): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CASP8_chr2_201255536_201292709 | 201281933 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01261.hp1 HG01433.hp2 others(31): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0004g0022a0001c0001t0004g0049a0001c0001t0004g0064others(25): Show | 34 | 386 | 0.0881 | 9 | c.803 others(26): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CASQ1_chr1_160185575_160206886 | 160186086 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG01891.hp2 HG02615.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(11): Show | 18 | 440 | 0.0409 | 9 | c.-46 others(20): Show |
CASQ1 | ENSG00000143318.13 | transcript | ENST00000368078.8 | protein_coding | 4488 | chr1 | TogoVar | ||||||
| CASQ1_chr1_160185575_160206886 | 160194127 | T | TACACACA others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01515.hp2 HG01517.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0054a0001c0001t0002g0027others(2): Show | 11 | 440 | 0.0250 | 9 | c.465 others(24): Show |
CASQ1 | ENSG00000143318.13 | transcript | ENST00000368078.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CASQ2_chr1_115695021_115773714 | 115761497 | G | GAGAAGAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014 | a0001c0001t0008g0021a0001c0001t0014g0030a0001c0001t0014g0031 | 3 | 364 | 0.0082 | 9 | c.234 others(26): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
| CASTOR2_chr7_74959705_75036528 | 74995511 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 HG01192.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(9): Show | a0001c0001t0005g0032a0001c0001t0005g0033a0001c0001t0005g0035others(12): Show | 15 | 228 | 0.0658 | 9 | c.114 others(28): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CASZ1_chr1_10631604_10801646 | 10740960 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00741.hp1 others(14): Show |
a0001a0013a0016 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0001g0137a0001c0001t0003g0033a0001c0001t0006g0072others(14): Show | 17 | 236 | 0.0720 | 9 | c.-77 others(28): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
| CATSPER1_chr11_66011752_66031479 | 66027488 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01099.hp2 others(20): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0005t0002others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0009others(14): Show | 23 | 408 | 0.0564 | 9 | c.-11 others(20): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 1010 | chr11 | TogoVar | ||||||
| CATSPERD_chr19_5715637_5783734 | 5731560 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01168.hp1 HG01175.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0304others(3): Show | 6 | 336 | 0.0179 | 9 | c.276 others(26): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CATSPERD_chr19_5715637_5783734 | 5763847 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01517.hp1 others(8): Show |
a0001a0003a0008others(1): Show | a0001c0001a0003c0004a0008c0009others(1): Show | a0001c0001t0001a0003c0004t0001a0008c0009t0001others(1): Show | a0001c0001t0001g0065a0001c0001t0001g0164a0001c0001t0001g0170others(8): Show | 11 | 336 | 0.0327 | 9 | c.150 others(26): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |