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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACAD11_chr3_132553141_132664809 | 132618633 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00673.hp2 HG01069.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016a0001c0001t0001g0293a0001c0001t0001g0294others(13): Show | 19 | 316 | 0.0601 | 0 | c.141 others(6): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 11/19 | chr3 | TogoVar | ||||||
ACOT9_chrX_23696055_23748276 | 23705527 | G | GC | frameshift_variant | HIGH | NA18968.hp2 | a0004 | a0004c0006 | a0004c0006t0047 | a0004c0006t0047g0196 | 1 | 309 | 0.0032 | 1 | c.100 others(5): Show |
p.Ala others(5): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 13/16 | 1132/4318 | 1000/1347 | 334/448 | chrX | TogoVar | ||
ACOT9_chrX_23696055_23748276 | 23706683 | TG | T | frameshift_variant | HIGH | NA18968.hp2 | a0004 | a0004c0006 | a0004c0006t0047 | a0004c0006t0047g0196 | 1 | 309 | 0.0032 | -1 | c.786 others(4): Show |
p.Ser others(5): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 11/16 | 918/4318 | 786/1347 | 262/448 | chrX | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20465682 | C | T | stop_gained | HIGH | HG00673.hp2 HG02071.hp1 HG02083.hp2 others(31): Show |
a0006 | a0006c0006a0006c0016 | a0006c0006t0002a0006c0006t0003a0006c0006t0009others(2): Show | a0006c0006t0002g0036a0006c0006t0002g0037a0006c0006t0002g0270others(28): Show | 34 | 436 | 0.0780 | 0 | c.343 others(3): Show |
p.Arg others(4): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 3/14 | 512/2894 | 343/1734 | 115/577 | chr16 | TogoVar | ||
ACTN3_chr11_66541903_66568334 | 66560624 | C | T | stop_gained | HIGH | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show |
a0002a0011a0013others(1): Show | a0002c0002a0002c0008a0002c0011others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001others(8): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010others(67): Show | 150 | 400 | 0.3750 | 0 | c.172 others(4): Show |
p.Arg others(4): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 15/21 | 1764/2882 | 1729/2706 | 577/901 | chr11 | TogoVar | ||
ADAMTS9_chr3_64510654_64693000 | 64658506 | G | C | stop_gained | HIGH | NA18968.hp2 | a0018 | a0018c0048 | a0018c0048t0002 | a0018c0048t0002g0081 | 1 | 286 | 0.0035 | 0 | c.965 others(3): Show |
p.Ser others(4): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4/40 | 1308/7624 | 965/5808 | 322/1935 | chr3 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 373 | 390 | 0.9564 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110892724 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(206): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(77): Show | 209 | 394 | 0.5305 | 1 | c.616 others(6): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ANKRD36C_chr2_95844548_95996824 | 95918788 | GTTAGATA others(1872): Show |
G | exon_loss_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show |
a0002a0004a0008others(9): Show | a0002c0004a0002c0007a0002c0013others(14): Show | a0002c0004t0001a0002c0007t0001a0002c0013t0001others(14): Show | a0002c0004t0001g0003a0002c0004t0001g0019a0002c0004t0001g0021others(96): Show | 101 | 298 | 0.3389 | -1879 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | ||||||
ANLN_chr7_36384862_36458791 | 36425997 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show |
a0002a0004 | a0002c0001a0004c0007 | a0002c0001t0001a0002c0001t0010a0004c0007t0001 | a0002c0001t0001g0001a0002c0001t0001g0009a0002c0001t0001g0015others(58): Show | 64 | 408 | 0.1569 | 1 | c.274 others(7): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200593204 | G | A | splice_donor_variant others(1): Show |
HIGH | NA18968.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0111 | 1 | 370 | 0.0027 | 0 | c.103 others(5): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 2/34 | chr2 | TogoVar | ||||||
APLN_chrX_129640259_129659956 | 129648629 | GA | G | frameshift_variant | HIGH | NA18968.hp2 | a0000 | a0000c0002 | a0000c0002t0015 | a0000c0002t0015g0037 | 1 | 317 | 0.0032 | -1 | c.230 others(4): Show |
p.Phe others(4): Show |
APLN | ENSG00000171388.12 | transcript | ENST00000429967.3 | protein_coding | 2/3 | 556/3224 | 230/234 | 77/77 | chrX | TogoVar | ||
APOL4_chr22_36184128_36206809 | 36191797 | ACT | A | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp2 HG00621.hp2 others(126): Show |
a0002 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0029others(13): Show | a0002c0002t0002g0007a0002c0002t0002g0009a0002c0002t0002g0011others(74): Show | 129 | 434 | 0.2972 | -2 | c.323 others(9): Show |
p.Glu others(5): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 4/4 | 399/3069 | 323/1047 | 108/348 | chr22 | TogoVar | ||
ARL9_chr4_56500791_56529453 | 56505976 | TAAAC | T | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0003t0004a0003c0007t0001 | a0003c0003t0001g0008a0003c0003t0001g0010a0003c0003t0001g0015others(41): Show | 61 | 416 | 0.1466 | -4 | c.118 others(11): Show |
p.Gln others(4): Show |
ARL9 | ENSG00000196503.5 | transcript | ENST00000640821.3 | protein_coding | 1/4 | 190/1447 | 118/798 | 40/265 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
ARMS2_chr10_122449653_122462352 | 122454839 | C | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(58): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(2): Show | a0003c0003t0001g0003a0003c0003t0001g0016a0003c0003t0001g0018others(4): Show | 61 | 424 | 0.1439 | 0 | c.112 others(3): Show |
p.Arg others(3): Show |
ARMS2 | ENSG00000254636.1 | transcript | ENST00000528446.1 | protein_coding | 1/2 | 187/818 | 112/324 | 38/107 | chr10 | TogoVar | ||
AS3MT_chr10_102864470_102906899 | 102869497 | TCCTGAGT others(29): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(163): Show | 173 | 362 | 0.4779 | -36 | c.-19 others(44): Show |
p.Met others(3): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 1/11 | 105/2450 | 1/1128 | 1/375 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
ASAH2B_chr10_50734936_50764255 | 50745132 | T | C | start_lost | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(135): Show | 347 | 414 | 0.8382 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/6 | 149/5145 | 2/483 | 1/160 | chr10 | TogoVar | ||
AVPI1_chr10_97672424_97692241 | 97679916 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0009others(48): Show | 101 | 446 | 0.2265 | 0 | c.-10 others(5): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 1/2 | chr10 | TogoVar | ||||||
AVPR2_chrX_153899673_153912166 | 153905882 | TC | T | frameshift_variant | HIGH | NA18968.hp1 | a0012 | a0012c0018 | a0012c0018t0001 | a0012c0018t0001g0009 | 1 | 322 | 0.0031 | -1 | c.378 others(4): Show |
p.Ser others(5): Show |
AVPR2 | ENSG00000126895.16 | transcript | ENST00000646375.2 | protein_coding | 3/4 | 649/1825 | 378/1116 | 126/371 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AVPR2_chrX_153899673_153912166 | 153905974 | G | GAACCGGC others(6): Show |
frameshift_variant | HIGH | NA18968.hp1 | a0012 | a0012c0018 | a0012c0018t0001 | a0012c0018t0001g0009 | 1 | 322 | 0.0031 | 13 | c.469 others(20): Show |
p.Leu others(5): Show |
AVPR2 | ENSG00000126895.16 | transcript | ENST00000646375.2 | protein_coding | 3/4 | 753/1825 | 482/1116 | 161/371 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
C12orf60_chr12_14798670_14829415 | 14823483 | CTA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(65): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003a0002c0002t0001g0008a0002c0002t0001g0012others(9): Show | 68 | 388 | 0.1753 | -2 | c.550 others(9): Show |
p.Met others(5): Show |
C12orf60 | ENSG00000182993.5 | transcript | ENST00000330828.3 | protein_coding | 2/2 | 656/1586 | 550/738 | 184/245 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
C2orf42_chr2_70144885_70196019 | 70165549 | G | GT | frameshift_variant | HIGH | HG00597.hp2 HG00741.hp1 HG01109.hp1 others(12): Show |
a0003a0005 | a0003c0003a0003c0007a0005c0009 | a0003c0003t0001a0003c0007t0001a0005c0009t0001 | a0003c0003t0001g0016a0003c0003t0001g0060a0003c0003t0001g0077others(12): Show | 15 | 346 | 0.0434 | 1 | c.123 others(5): Show |
p.Arg others(5): Show |
C2orf42 | ENSG00000115998.8 | transcript | ENST00000264434.7 | protein_coding | 7/10 | 1558/2524 | 1230/1725 | 410/574 | chr2 | TogoVar | ||
C9_chr5_39279140_39369495 | 39341276 | G | A | stop_gained | HIGH | HG02056.hp2 NA18966.hp2 NA18968.hp2 others(1): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0013a0005c0007t0001g0158a0005c0007t0001g0232 | 4 | 394 | 0.0102 | 0 | c.346 others(3): Show |
p.Arg others(4): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 4/11 | 377/2770 | 346/1680 | 116/559 | chr5 | TogoVar | ||
CALCOCO2_chr17_48826035_48870245 | 48852915 | T | TTTTTGTG others(13): Show |
frameshift_variant | HIGH | NA18968.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0043 | 1 | 328 | 0.0031 | 20 | c.826 others(30): Show |
p.Gln others(5): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/13 | 890/3635 | 836/1341 | 279/446 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
CATSPER2_chr15_43623503_43653844 | 43632936 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(113): Show | 176 | 392 | 0.4490 | 0 | c.117 others(6): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | chr15 | TogoVar | ||||||
CCDC138_chr2_108781771_108881578 | 108788018 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0129others(75): Show | 79 | 220 | 0.3591 | 1 | c.94- others(5): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCNL2_chr1_1380711_1404335 | 1398672 | CTAGAG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00544.hp1 HG00558.hp2 HG01109.hp1 others(49): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(2): Show | a0001c0001t0002g0010a0001c0001t0002g0012a0001c0001t0002g0042others(35): Show | 52 | 370 | 0.1405 | -5 | c.289 others(16): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CD40_chr20_46113314_46134858 | 46128304 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp1 HG01361.hp1 HG01361.hp2 others(39): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0048a0001c0001t0001g0071others(34): Show | 42 | 416 | 0.1010 | 1 | c.647 others(6): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDC42BPG_chr11_64818052_64849653 | 64839217 | GCCACTGA others(26): Show |
G | frameshift_variant others(3): Show |
HIGH | NA18968.hp1 | a0014 | a0014c0028 | a0014c0028t0001 | a0014c0028t0001g0053 | 1 | 404 | 0.0025 | -33 | c.676 others(43): Show |
p.Val others(5): Show |
CDC42BPG | ENSG00000171219.9 | transcript | ENST00000342711.6 | protein_coding | 7/37 | 775/6161 | 676/4656 | 226/1551 | chr11 | TogoVar | ||
CDH15_chr16_89166748_89200492 | 89195074 | C | A | stop_gained | HIGH | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(38): Show |
a0004a0005a0016others(2): Show | a0004c0005a0004c0019a0005c0006others(3): Show | a0004c0005t0001a0004c0019t0005a0005c0006t0001others(3): Show | a0004c0005t0001g0017a0004c0005t0001g0019a0004c0005t0001g0042others(28): Show | 41 | 406 | 0.1010 | 0 | c.236 others(4): Show |
p.Tyr others(4): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 14/14 | 2448/2866 | 2364/2445 | 788/814 | chr16 | TogoVar | ||
CDON_chr11_125951821_126067866 | 126021247 | C | A | splice_donor_variant others(1): Show |
HIGH | NA18968.hp1 | a0001 | a0001c0009 | a0001c0009t0059 | a0001c0009t0059g0215 | 1 | 334 | 0.0030 | 0 | c.349 others(5): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 3/19 | chr11 | TogoVar | ||||||
CFAP90_chr5_7825378_7856133 | 7835432 | G | A | stop_gained | HIGH | HG02132.hp2 NA18939.hp2 NA18946.hp1 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003a0003c0003t0001g0083a0003c0003t0001g0091 | 16 | 420 | 0.0381 | 0 | c.214 others(3): Show |
p.Arg others(3): Show |
CFAP90 | ENSG00000215217.7 | transcript | ENST00000399810.7 | protein_coding | 2/3 | 326/2028 | 214/444 | 72/147 | chr5 | TogoVar | ||
CHIT1_chr1_203211079_203234673 | 203217822 | C | CAGACCAT others(17): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show |
a0001a0009a0013others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(41): Show | 175 | 484 | 0.3616 | 24 | c.104 others(33): Show |
p.Val others(37): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1109/2248 | 1072/1401 | 358/466 | chr1 | TogoVar | ||
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | HG02165.hp1 NA18964.hp1 NA18968.hp2 others(2): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0015a0002c0004t0001g0015a0002c0004t0001g0078 | 5 | 444 | 0.0113 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 355 | 424 | 0.8373 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNTNAP3B_chr9_41885536_42134426 | 41953235 | G | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(31): Show |
a0001a0006a0010others(3): Show | a0001c0001a0001c0012a0001c0042others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0005others(31): Show | 34 | 108 | 0.3148 | 0 | c.202 others(4): Show |
p.Cys others(4): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 13/24 | 2360/7652 | 2028/3867 | 676/1288 | chr9 | TogoVar | ||
COL9A2_chr1_40295489_40322286 | 40307478 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(38): Show |
a0003a0008a0009others(1): Show | a0003c0005a0003c0008a0003c0028others(3): Show | a0003c0005t0001a0003c0008t0001a0003c0028t0001others(3): Show | a0003c0005t0001g0004a0003c0005t0001g0045a0003c0005t0001g0046others(19): Show | 41 | 438 | 0.0936 | 0 | c.976 others(3): Show |
p.Gln others(4): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 19/32 | 1065/2852 | 976/2070 | 326/689 | chr1 | TogoVar | ||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0021a0001c0037others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(270): Show | 276 | 360 | 0.7667 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CSF1_chr1_109905849_109935992 | 109923714 | A | AC | frameshift_variant | HIGH | HG00673.hp1 HG01106.hp1 HG01123.hp1 others(27): Show |
a0004a0005a0008others(2): Show | a0004c0007a0004c0010a0004c0013others(6): Show | a0004c0007t0001a0004c0007t0002a0004c0007t0004others(12): Show | a0004c0007t0001g0015a0004c0007t0002g0002a0004c0007t0002g0005others(25): Show | 30 | 434 | 0.0691 | 1 | c.109 others(5): Show |
p.Ala others(5): Show |
CSF1 | ENSG00000184371.14 | transcript | ENST00000329608.11 | protein_coding | 6/9 | 1271/3994 | 1096/1665 | 366/554 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
CSNKA2IP_chr3_88333456_88472594 | 88467516 | G | A | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(240): Show |
a0001a0005a0007others(8): Show | a0001c0001a0001c0004a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0049others(237): Show | 243 | 386 | 0.6295 | 0 | c.215 others(4): Show |
p.Trp others(4): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | 2617/2695 | 2159/2205 | 720/734 | chr3 | TogoVar | ||
CT47A4_chrX_120962886_120976208 | 120970321 | T | TC | frameshift_variant | HIGH | NA18968.hp1 | a0013 | a0013c0018 | a0013c0018t0004 | a0013c0018t0004g0011 | 1 | 164 | 0.0061 | 1 | c.628 others(4): Show |
p.Glu others(5): Show |
CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 887/1298 | 628/867 | 210/288 | chrX | TogoVar | ||
CT47A4_chrX_120962886_120976208 | 120970356 | AG | A | frameshift_variant | HIGH | NA18968.hp1 | a0013 | a0013c0018 | a0013c0018t0004 | a0013c0018t0004g0011 | 1 | 164 | 0.0061 | -1 | c.593 others(4): Show |
p.Pro others(5): Show |
CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 852/1298 | 593/867 | 198/288 | chrX | TogoVar | ||
CT47A4_chrX_120962886_120976208 | 120970408 | C | CG | frameshift_variant | HIGH | NA18968.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0014 | 1 | 164 | 0.0061 | 1 | c.541 others(4): Show |
p.Arg others(5): Show |
CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 800/1298 | 541/867 | 181/288 | chrX | TogoVar | ||
CT47A4_chrX_120962886_120976208 | 120970682 | C | CG | frameshift_variant | HIGH | NA18968.hp1 | a0013 | a0013c0018 | a0013c0018t0004 | a0013c0018t0004g0011 | 1 | 164 | 0.0061 | 1 | c.267 others(4): Show |
p.Ala others(4): Show |
CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 526/1298 | 267/867 | 89/288 | chrX | TogoVar | ||
CT47A4_chrX_120962886_120976208 | 120970715 | C | CAG | frameshift_variant | HIGH | NA18968.hp1 | a0013 | a0013c0018 | a0013c0018t0004 | a0013c0018t0004g0011 | 1 | 164 | 0.0061 | 2 | c.234 others(9): Show |
p.Gly others(4): Show |
CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 493/1298 | 234/867 | 78/288 | chrX | TogoVar | ||
CT47A4_chrX_120962886_120976208 | 120970813 | A | AC | frameshift_variant | HIGH | NA18968.hp1 | a0013 | a0013c0018 | a0013c0018t0004 | a0013c0018t0004g0011 | 1 | 164 | 0.0061 | 1 | c.136 others(4): Show |
p.Val others(4): Show |
CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 395/1298 | 136/867 | 46/288 | chrX | TogoVar | ||
CT47A4_chrX_120962886_120976208 | 120970909 | TG | T | frameshift_variant | HIGH | NA18968.hp1 | a0013 | a0013c0018 | a0013c0018t0004 | a0013c0018t0004g0011 | 1 | 164 | 0.0061 | -1 | c.40d others(3): Show |
p.Gln others(4): Show |
CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 299/1298 | 40/867 | 14/288 | chrX | TogoVar | ||
CT47A4_chrX_120962886_120976208 | 120970933 | T | TC | frameshift_variant | HIGH | NA18968.hp1 | a0013 | a0013c0018 | a0013c0018t0004 | a0013c0018t0004g0011 | 1 | 164 | 0.0061 | 1 | c.16d others(3): Show |
p.Asp others(3): Show |
CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 275/1298 | 16/867 | 6/288 | chrX | TogoVar | ||
CTU1_chr19_51092606_51113409 | 51098802 | C | CG | frameshift_variant | HIGH | HG01978.hp1 HG01993.hp1 HG02647.hp1 others(11): Show |
a0000 | a0000c0005a0000c0007a0000c0011others(1): Show | a0000c0005t0001a0000c0005t0007a0000c0005t0014others(6): Show | a0000c0005t0001g0150a0000c0005t0001g0203a0000c0005t0007g0163others(11): Show | 14 | 454 | 0.0308 | 1 | c.845 others(4): Show |
p.Arg others(5): Show |
CTU1 | ENSG00000142544.7 | transcript | ENST00000421832.3 | protein_coding | 3/3 | 929/2126 | 845/1047 | 282/348 | chr19 | TogoVar | ||
CYLC2_chr9_102990333_103023488 | 103016962 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(317): Show | 412 | 448 | 0.9196 | 0 | c.*89 others(6): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 7/7 | chr9 | TogoVar |