| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C4orf48_chr4_2036995_2048964 | 2042398 | C | CGCT | disruptive_inframe_insertion | MODERATE | HG01069.hp1 HG01071.hp2 HG03486.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 3 | 390 | 0.0077 | 3 | c.49_ others(8): Show |
p.Pro others(14): Show |
C4orf48 | ENSG00000243449.8 | transcript | ENST00000409248.10 | protein_coding | 2/4 | 149/425 | 50/288 | 17/95 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
| C8orf90_chr8_141509671_141523729 | 141518575 | C | CGGGGGGG others(86): Show |
disruptive_inframe_insertion | MODERATE | NA20905.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0042 | 1 | 447 | 0.0022 | 93 | c.443 others(100): Show |
p.Gly others(106): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 2/2 | 470/619 | 444/579 | 148/192 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
| C9orf43_chr9_113405747_113434690 | 113425365 | G | GGCA | disruptive_inframe_insertion | MODERATE | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
a0003 | a0003c0003a0003c0011 | a0003c0003t0002a0003c0011t0002 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | 308 | 0.0260 | 3 | c.906 others(10): Show |
p.Gln others(6): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 10/14 | 1213/1994 | 909/1386 | 303/461 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CABCOCO1_chr10_61657929_61771766 | 61662996 | G | GGGGCCGA others(8): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(344): Show |
363 | 372 | 0.9758 | 15 | c.38_ others(20): Show |
p.Ala others(26): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 1/8 | 83/1688 | 39/891 | 13/296 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
| CABCOCO1_chr10_61657929_61771766 | 61663005 | C | CCCGGCAG others(8): Show |
disruptive_inframe_insertion | MODERATE | NA18940.hp1 NA18963.hp2 NA18973.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0186 a0001c0004t0001g0188 a0001c0004t0001g0190 others(3): Show |
6 | 372 | 0.0161 | 15 | c.38_ others(20): Show |
p.Ala others(26): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 1/8 | 83/1688 | 39/891 | 13/296 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
| CACFD1_chr9_133454978_133475848 | 133460122 | A | AGGAAGAG others(29): Show |
disruptive_inframe_insertion | MODERATE | HG01081.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0007 | 1 | 418 | 0.0024 | 36 | c.57_ others(41): Show |
p.Leu others(47): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/5 | 182/2803 | 93/519 | 31/172 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CACNA1B_chr9_137872782_138129619 | 138121911 | C | CCAACGGT others(8): Show |
disruptive_inframe_insertion | MODERATE | NA19065.hp1 | a0016 | a0016c0030 | a0016c0030t0003 | a0016c0030t0003g0097 | 1 | 246 | 0.0041 | 15 | c.693 others(24): Show |
p.Asn others(15): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 7102/9792 | 6950/7020 | 2317/2339 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CACNA1F_chrX_49200063_49238340 | 49219765 | T | TTCC | disruptive_inframe_insertion | MODERATE | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(32): Show |
a0003a0004 | a0003c0004a0003c0024a0004c0005others(1): Show | a0003c0004t0001a0003c0024t0001a0004c0005t0001others(1): Show | a0003c0004t0001g0006 a0003c0004t0001g0040 a0003c0004t0001g0041 others(21): Show |
35 | 288 | 0.1215 | 3 | c.240 others(12): Show |
p.Glu others(6): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 20/48 | 2442/6006 | 2411/5901 | 804/1966 | chrX | TogoVar | |||
| CACNA1H_chr16_1148106_1226768 | 1220791 | A | AGTGTGAC others(26): Show |
disruptive_inframe_insertion | MODERATE | HG01074.hp1 | a0032 | a0032c0089 | a0032c0089t0005 | a0032c0089t0005g0262 | 1 | 336 | 0.0030 | 33 | c.686 others(42): Show |
p.Gly others(48): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 7277/8219 | 6894/7062 | 2298/2353 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
| CALHM3_chr10_103467804_103484240 | 103473417 | T | TGGGGGCT others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00423.hp1 HG00544.hp1 HG01074.hp1 others(65): Show |
a0002a0004a0008 | a0002c0002a0002c0011a0004c0004others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(3): Show | a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0016 others(10): Show |
68 | 448 | 0.1518 | 18 | c.813 others(25): Show |
p.Pro others(31): Show |
CALHM3 | ENSG00000183128.7 | transcript | ENST00000369783.4 | protein_coding | 3/3 | 1038/1652 | 830/1035 | 277/344 | chr10 | TogoVar | |||
| CAPN11_chr6_44153820_44189401 | 44181190 | G | GCTTCCCT others(65): Show |
disruptive_inframe_insertion | MODERATE | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 458 | 0.0022 | 72 | c.187 others(84): Show |
p.Ser others(85): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/23 | 1910/2718 | 1881/2220 | 627/739 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CAPNS1_chr19_36135066_36155353 | 36141122 | G | GGGC | disruptive_inframe_insertion | MODERATE | HG01168.hp1 HG02132.hp2 HG02300.hp2 others(2): Show |
a0002a0004 | a0002c0003a0004c0007 | a0002c0003t0001a0004c0007t0005 | a0002c0003t0001g0004 a0002c0003t0001g0012 a0002c0003t0001g0077 others(2): Show |
5 | 469 | 0.0107 | 3 | c.141 others(10): Show |
p.Gly others(5): Show |
CAPNS1 | ENSG00000126247.11 | transcript | ENST00000246533.8 | protein_coding | 2/11 | 251/1428 | 144/807 | 48/268 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
| CAPNS1_chr19_36135066_36155353 | 36141122 | G | GGGCGGCG others(11): Show |
disruptive_inframe_insertion | MODERATE | HG02965.hp1 | a0006 | a0006c0008 | a0006c0008t0006 | a0006c0008t0006g0036 | 1 | 465 | 0.0022 | 18 | c.128 others(25): Show |
p.Gly others(11): Show |
CAPNS1 | ENSG00000126247.11 | transcript | ENST00000246533.8 | protein_coding | 2/11 | 236/1428 | 129/807 | 43/268 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
| CARM1_chr19_10866553_10928075 | 10871708 | A | AGCG | disruptive_inframe_insertion | MODERATE | HG00140.hp1 NA18522.hp1 NA18972.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0018 a0002c0003t0001g0094 a0002c0003t0001g0095 |
3 | 352 | 0.0085 | 3 | c.20_ others(8): Show |
p.Ala others(4): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 173/3295 | 23/1827 | 8/608 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
| CASKIN1_chr16_2172180_2201605 | 2179036 | C | CGCG | disruptive_inframe_insertion | MODERATE | HG01069.hp1 HG01433.hp1 HG02109.hp2 others(17): Show |
a0002a0007a0019others(1): Show | a0002c0002a0007c0008a0019c0034others(1): Show | a0002c0002t0001a0002c0002t0022a0002c0002t0025others(3): Show | a0002c0002t0001g0004 a0002c0002t0001g0088 a0002c0002t0001g0141 others(9): Show |
20 | 338 | 0.0592 | 3 | c.406 others(12): Show |
p.Ala others(7): Show |
CASKIN1 | ENSG00000167971.16 | transcript | ENST00000343516.8 | protein_coding | 19/20 | 4237/5839 | 4064/4296 | 1355/1431 | chr16 | TogoVar | |||
| CASKIN1_chr16_2172180_2201605 | 2179036 | C | CGCGGCG | disruptive_inframe_insertion | MODERATE | HG02055.hp2 HG02080.hp1 HG02083.hp1 others(2): Show |
a0006a0015a0021 | a0006c0009a0015c0023a0021c0032 | a0006c0009t0001a0015c0023t0001a0021c0032t0002 | a0006c0009t0001g0041 a0006c0009t0001g0074 a0015c0023t0001g0196 others(1): Show |
5 | 323 | 0.0155 | 6 | c.405 others(15): Show |
p.Ala others(15): Show |
CASKIN1 | ENSG00000167971.16 | transcript | ENST00000343516.8 | protein_coding | 19/20 | 4237/5839 | 4064/4296 | 1355/1431 | chr16 | TogoVar | |||
| CASKIN2_chr17_75495261_75520537 | 75502569 | G | GCGTCCTG others(23): Show |
disruptive_inframe_insertion | MODERATE | HG02698.hp2 | a0011 | a0011c0033 | a0011c0033t0001 | a0011c0033t0001g0135 | 1 | 412 | 0.0024 | 30 | c.247 others(39): Show |
p.Arg others(43): Show |
CASKIN2 | ENSG00000177303.10 | transcript | ENST00000321617.8 | protein_coding | 18/20 | 3045/4969 | 2504/3609 | 835/1202 | chr17 | TogoVar | |||
| CBX4_chr17_79828156_79844440 | 79834118 | T | TGCCGCC | disruptive_inframe_insertion | MODERATE | HG00323.hp2 HG01069.hp1 HG01071.hp1 others(21): Show |
a0003a0006a0007 | a0003c0003a0003c0008a0006c0012others(1): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0005others(3): Show | a0003c0003t0001g0009 a0003c0003t0001g0016 a0003c0003t0001g0025 others(7): Show |
24 | 417 | 0.0576 | 6 | c.151 others(15): Show |
p.Ala others(13): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 5/5 | 1712/2675 | 1523/1683 | 508/560 | chr17 | TogoVar | |||
| CCDC201_chr7_45854994_45878082 | 45866138 | T | TTGC | disruptive_inframe_insertion | MODERATE | HG00280.hp2 HG00323.hp1 HG00741.hp2 others(7): Show |
a0003 | a0003c0006 | a0003c0006t0009 | a0003c0006t0009g0010 a0003c0006t0009g0048 |
10 | 441 | 0.0227 | 3 | c.372 others(10): Show |
p.Gln others(6): Show |
CCDC201 | ENSG00000283247.2 | transcript | ENST00000636578.2 | protein_coding | 2/3 | 449/3730 | 374/564 | 125/187 | chr7 | TogoVar | |||
| CCDC34_chr11_27333512_27368215 | 27362901 | T | TTCATCCA others(11): Show |
disruptive_inframe_insertion | MODERATE | HG06807.hp2 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0260 | 1 | 344 | 0.0029 | 18 | c.276 others(25): Show |
p.Asp others(11): Show |
CCDC34 | ENSG00000109881.17 | transcript | ENST00000328697.11 | protein_coding | 1/6 | 314/1452 | 293/1122 | 98/373 | chr11 | TogoVar | |||
| CCM2L_chr20_32005438_32037180 | 32031239 | T | TGAC | disruptive_inframe_insertion | MODERATE | HG01123.hp1 HG01346.hp2 HG02109.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0019 a0002c0002t0002g0035 a0002c0002t0002g0038 others(8): Show |
14 | 295 | 0.0475 | 3 | c.165 others(12): Show |
p.Asp others(6): Show |
CCM2L | ENSG00000101331.17 | transcript | ENST00000452892.3 | protein_coding | 10/10 | 1676/2599 | 1659/1716 | 553/571 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
| CCM2L_chr20_32005438_32037180 | 32031239 | T | TGACGAC | disruptive_inframe_insertion | MODERATE | HG00738.hp2 HG01167.hp2 HG01169.hp1 |
a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0026 a0004c0007t0004g0066 |
3 | 284 | 0.0106 | 6 | c.165 others(15): Show |
p.Asp others(13): Show |
CCM2L | ENSG00000101331.17 | transcript | ENST00000452892.3 | protein_coding | 10/10 | 1676/2599 | 1659/1716 | 553/571 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
| CD163L1_chr12_7349960_7449153 | 7375582 | G | GACAGAT | disruptive_inframe_insertion | MODERATE | NA18747.hp1 NA18979.hp2 NA18998.hp1 others(2): Show |
a0007 | a0007c0010 | a0007c0010t0001a0007c0010t0003 | a0007c0010t0001g0018 a0007c0010t0001g0177 a0007c0010t0001g0182 others(1): Show |
5 | 382 | 0.0131 | 6 | c.269 others(15): Show |
p.Val others(19): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 11/20 | 2725/4583 | 2699/4362 | 900/1453 | chr12 | TogoVar | |||
| CDKN1C_chr11_2878218_2890775 | 2884878 | C | CGGGGCCG others(5): Show |
disruptive_inframe_insertion | MODERATE | HG02015.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 1 | 414 | 0.0024 | 12 | c.567 others(19): Show |
p.Pro others(25): Show |
CDKN1C | ENSG00000129757.15 | transcript | ENST00000440480.8 | protein_coding | 2/4 | 730/1773 | 578/918 | 193/305 | chr11 | TogoVar | |||
| CELF3_chr1_151695058_151721803 | 151706246 | T | TTGC | disruptive_inframe_insertion | MODERATE | HG02895.hp2 HG03225.hp1 NA21309.hp1 |
a0003 | a0003c0003a0003c0006 | a0003c0003t0019a0003c0006t0046 | a0003c0003t0019g0074 a0003c0003t0019g0110 a0003c0006t0046g0132 |
3 | 427 | 0.0070 | 3 | c.110 others(12): Show |
p.Gln others(6): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 10/13 | 1886/5582 | 1103/1398 | 368/465 | chr1 | TogoVar | |||
| CELF3_chr1_151695058_151721803 | 151706246 | T | TTGCTGCT others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp1 HG02280.hp1 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0029 | 3 | 427 | 0.0070 | 9 | c.109 others(18): Show |
p.Gln others(13): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 10/13 | 1886/5582 | 1103/1398 | 368/465 | chr1 | TogoVar | |||
| CELSR1_chr22_46356174_46542620 | 46536784 | C | CCCGCAGA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG01099.hp2 | a0013 | a0013c0007 | a0013c0007t0001 | a0013c0007t0001g0004 | 1 | 102 | 0.0098 | 21 | c.366 others(28): Show |
p.Gly others(34): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 836/11559 | 386/9060 | 129/3019 | chr22 | TogoVar | |||
| CELSR2_chr1_109244539_109280751 | 109250113 | A | ACGC | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(187): Show |
a0001a0011 | a0001c0001a0001c0003a0001c0005others(29): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(52): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(103): Show |
190 | 354 | 0.5367 | 3 | c.47_ others(8): Show |
p.Pro others(5): Show |
CELSR2 | ENSG00000143126.8 | transcript | ENST00000271332.4 | protein_coding | 1/34 | 591/11015 | 50/8772 | 17/2923 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20288): Show |
stop_gained others(1): Show |
HIGH | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 405 | 0.0025 | 20295 | c.189 others(20304): Show |
p.Gly others(20308): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20285): Show |
stop_gained others(1): Show |
HIGH | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 405 | 0.0025 | 20292 | c.189 others(20301): Show |
p.Gly others(20305): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20285): Show |
stop_gained others(1): Show |
HIGH | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 405 | 0.0025 | 20292 | c.189 others(20301): Show |
p.Gly others(20305): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071435 | G | GCCCCCCC others(59): Show |
disruptive_inframe_insertion | MODERATE | HG02647.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0020 |
2 | 363 | 0.0055 | 66 | c.196 others(75): Show |
p.Gly others(79): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1987/2381 | 1965/2262 | 655/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CENPB_chr20_3778851_3791740 | 3785200 | T | TTCC | disruptive_inframe_insertion | MODERATE | HG01243.hp1 HG01884.hp2 HG02145.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0009 | a0002c0003t0001g0000 a0002c0003t0009g0000 |
5 | 408 | 0.0123 | 3 | c.128 others(12): Show |
p.Glu others(6): Show |
CENPB | ENSG00000125817.8 | transcript | ENST00000379751.5 | protein_coding | 1/1 | 1540/2890 | 1283/1800 | 428/599 | chr20 | TogoVar | |||
| CEP162_chr6_84119250_84232643 | 84174775 | T | TTCCTGTT others(38): Show |
disruptive_inframe_insertion | MODERATE | HG01074.hp2 HG01243.hp2 HG01257.hp2 others(11): Show |
a0003a0009 | a0003c0003a0003c0021a0009c0018 | a0003c0003t0001a0003c0003t0003a0003c0021t0003others(1): Show | a0003c0003t0001g0089 a0003c0003t0003g0041 a0003c0003t0003g0042 others(11): Show |
14 | 212 | 0.0660 | 45 | c.193 others(54): Show |
p.Glu others(58): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 15/27 | 2099/5155 | 1976/4212 | 659/1403 | chr6 | TogoVar | |||
| CEP20_chr16_15860719_15893603 | 15873504 | T | TCTA | disruptive_inframe_insertion | MODERATE | HG00423.hp1 HG00621.hp2 HG00735.hp1 others(64): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0008a0002c0002t0012others(1): Show | a0002c0002t0004g0006 a0002c0002t0004g0008 a0002c0002t0004g0010 others(27): Show |
67 | 432 | 0.1551 | 3 | c.432 others(10): Show |
p.Ser others(6): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 4/5 | 452/2264 | 434/525 | 145/174 | chr16 | TogoVar | |||
| CFAP251_chr12_121913592_122008919 | 121921491 | G | GGAGGAGG others(8): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001a0002a0004others(3): Show | a0001c0003a0001c0004a0001c0005others(18): Show | a0001c0003t0001a0001c0004t0001a0001c0005t0001others(19): Show | a0001c0003t0001g0057 a0001c0003t0001g0087 a0001c0003t0001g0088 others(298): Show |
303 | 352 | 0.8608 | 15 | c.196 others(22): Show |
p.Glu others(26): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 2/22 | 321/3729 | 197/3450 | 66/1149 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
| CFAP251_chr12_121913592_122008919 | 121999733 | C | CGAAATCA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG01258.hp2 | a0005 | a0005c0019 | a0005c0019t0002 | a0005c0019t0002g0313 | 1 | 352 | 0.0028 | 21 | c.302 others(30): Show |
p.Glu others(15): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 20/22 | 3171/3729 | 3047/3450 | 1016/1149 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
| CGB7_chr19_49049274_49062749 | 49054318 | G | GGGGGGGG others(239): Show |
disruptive_inframe_insertion | MODERATE | NA18979.hp2 | a0010 | a0010c0015 | a0010c0015t0003 | a0010c0015t0003g0064 | 1 | 420 | 0.0024 | 246 | c.470 others(253): Show |
p.Pro others(259): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 5/5 | 2106/2151 | 470/498 | 157/165 | chr19 | TogoVar | |||
| CHGA_chr14_92918150_92940285 | 92931578 | A | AGAG | disruptive_inframe_insertion | MODERATE | HG01070.hp1 HG01891.hp1 HG02970.hp1 others(1): Show |
a0005 | a0005c0012a0005c0020a0005c0021 | a0005c0012t0001a0005c0020t0001a0005c0021t0001 | a0005c0012t0001g0002 a0005c0020t0001g0014 a0005c0021t0001g0002 |
4 | 441 | 0.0091 | 3 | c.707 others(10): Show |
p.Glu others(6): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 6/8 | 920/1985 | 710/1374 | 237/457 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
| CLCN2_chr3_184341185_184366605 | 184353343 | C | CCGG | disruptive_inframe_insertion | MODERATE | HG00738.hp1 HG01109.hp2 HG01175.hp1 others(1): Show |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0027 a0003c0006t0001g0213 |
4 | 458 | 0.0087 | 3 | c.193 others(12): Show |
p.Arg others(6): Show |
CLCN2 | ENSG00000114859.16 | transcript | ENST00000265593.9 | protein_coding | 17/24 | 2060/3244 | 1934/2697 | 645/898 | chr3 | TogoVar | |||
| CLDN22_chr4_183313100_183325276 | 183319862 | C | CAGCAGTC others(2201): Show |
stop_gained others(1): Show |
HIGH | HG03098.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0000 | 1 | 444 | 0.0023 | 2208 | c.356 others(2215): Show |
p.Leu others(2221): Show |
CLDN22 | ENSG00000177300.7 | transcript | ENST00000323319.7 | protein_coding | 1/1 | 414/2177 | 356/663 | 119/220 | chr4 | TogoVar | |||
| CLEC17A_chr19_14578084_14617035 | 14583363 | T | TGGA | disruptive_inframe_insertion | MODERATE | HG01891.hp1 HG01934.hp2 HG02109.hp2 others(25): Show |
a0002a0005 | a0002c0002a0005c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(5): Show | a0002c0002t0001g0089 a0002c0002t0002g0083 a0002c0002t0003g0059 others(25): Show |
28 | 362 | 0.0773 | 3 | c.66_ others(8): Show |
p.Glu others(5): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 2/14 | 146/3053 | 69/1137 | 23/378 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
| CLEC4M_chr19_7758243_7774605 | 7765776 | A | AGCTGAAG others(62): Show |
disruptive_inframe_insertion | MODERATE | HG03688.hp1 HG04199.hp1 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0005 | 2 | 377 | 0.0053 | 69 | c.558 others(76): Show |
p.Thr others(82): Show |
CLEC4M | ENSG00000104938.18 | transcript | ENST00000327325.10 | protein_coding | 4/7 | 651/1841 | 627/1200 | 209/399 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
| CLEC4M_chr19_7758243_7774605 | 7765776 | A | AGCTGAAG others(131): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp2 HG01167.hp1 HG01169.hp2 others(24): Show |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0005 a0004c0003t0001g0038 a0004c0003t0001g0070 |
27 | 402 | 0.0672 | 138 | c.489 others(145): Show |
p.Thr others(151): Show |
CLEC4M | ENSG00000104938.18 | transcript | ENST00000327325.10 | protein_coding | 4/7 | 651/1841 | 627/1200 | 209/399 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
| CLEC4M_chr19_7758243_7774605 | 7765983 | G | GGCTGAAG others(131): Show |
disruptive_inframe_insertion | MODERATE | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 457 | 0.0022 | 138 | c.591 others(145): Show |
p.Glu others(13): Show |
CLEC4M | ENSG00000104938.18 | transcript | ENST00000327325.10 | protein_coding | 4/7 | 753/1841 | 729/1200 | 243/399 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12224): Show |
stop_gained others(1): Show |
HIGH | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 393 | 0.0025 | 12231 | c.236 others(12238): Show |
p.Gln others(12242): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12215): Show |
stop_gained others(1): Show |
HIGH | HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 394 | 0.0051 | 12222 | c.236 others(12229): Show |
p.Gln others(12233): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12218): Show |
stop_gained others(1): Show |
HIGH | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 393 | 0.0025 | 12225 | c.236 others(12232): Show |
p.Gln others(12236): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12212): Show |
stop_gained others(1): Show |
HIGH | HG02083.hp1 NA18952.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0075 a0002c0004t0001g0094 |
2 | 394 | 0.0051 | 12219 | c.236 others(12226): Show |
p.Gln others(12230): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12212): Show |
stop_gained others(1): Show |
HIGH | NA18998.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0085 | 1 | 393 | 0.0025 | 12219 | c.236 others(12226): Show |
p.Gln others(12230): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |