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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACYP2_chr2_53966113_54310300 | 54057304 | G | A | stop_gained | HIGH | HG00408.hp1 HG00438.hp2 HG01169.hp1 others(11): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0002a0002c0003t0005a0002c0005t0002 | a0002c0003t0002g0014 a0002c0003t0002g0017 a0002c0003t0002g0018 others(11): Show |
14 | 270 | 0.0519 | 0 | c.221 others(3): Show |
p.Trp others(3): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/7 | 466/1262 | 221/519 | 74/172 | chr2 | TogoVar | |||
ADAM20_chr14_70517358_70540004 | 70522703 | T | TAATCCTT others(31): Show |
frameshift_variant | HIGH | NA18967.hp2 | a0007 | a0007c0008 | a0007c0008t0003 | a0007c0008t0003g0091 | 1 | 398 | 0.0025 | 38 | c.201 others(47): Show |
p.Asn others(5): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 2/2 | 2438/2784 | 2054/2181 | 685/726 | chr14 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3668985 | ATCTGGAC others(1): Show |
A | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00639.hp2 others(43): Show |
a0003a0005a0015others(3): Show | a0003c0003a0003c0039a0003c0042others(9): Show | a0003c0003t0007a0003c0003t0008a0003c0003t0032others(14): Show | a0003c0003t0007g0058 a0003c0003t0007g0095 a0003c0003t0007g0096 others(36): Show |
46 | 460 | 0.1000 | -8 | c.241 others(17): Show |
p.Gln others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 22/22 | 2425/3436 | 2412/2442 | 804/813 | chr20 | TogoVar | |||
ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(369): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(173): Show |
372 | 388 | 0.9588 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126559319 | TCTGCATC others(18): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | NA18967.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0328 | 1 | 378 | 0.0026 | -25 | c.914 others(35): Show |
p.Ala others(13): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 11/18 | 949/4765 | 914/1620 | 305/539 | chr5 | TogoVar | |||
AMD1_chr6_110869785_110900713 | 110892724 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(205): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(75): Show |
208 | 378 | 0.5503 | 1 | c.616 others(6): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ANKRD24_chr19_4177689_4229814 | 4217491 | C | CG | frameshift_variant | HIGH | HG00597.hp2 HG00639.hp1 HG01243.hp1 others(15): Show |
a0007a0013a0016others(5): Show | a0007c0011a0007c0041a0007c0042others(7): Show | a0007c0011t0001a0007c0011t0002a0007c0041t0001others(10): Show | a0007c0011t0001g0017 a0007c0011t0001g0037 a0007c0011t0001g0049 others(15): Show |
18 | 354 | 0.0508 | 1 | c.233 others(5): Show |
p.Gly others(5): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 18/22 | 2425/3838 | 2337/3441 | 779/1146 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ANLN_chr7_36384862_36458791 | 36425997 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0010a0004c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(55): Show |
64 | 396 | 0.1616 | 1 | c.274 others(7): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr7 | 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 | a0003c0003t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0018 others(4): Show |
61 | 422 | 0.1446 | 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 | |||
ATM_chr11_108218067_108374102 | 108250683 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(31): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(155): Show |
159 | 299 | 0.5318 | 1 | c.123 others(7): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 9/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70935956 | T | C | start_lost | HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(148): Show |
a0002 | a0002c0003a0002c0006a0002c0008others(18): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003others(21): Show | a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 others(129): Show |
151 | 438 | 0.3447 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | 57/1907 | 2/1542 | 1/513 | chr2 | TogoVar | |||
BID_chr22_17729138_17779469 | 17739347 | A | G | splice_donor_variant others(1): Show |
HIGH | NA18967.hp1 NA19088.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0090 a0002c0002t0002g0156 |
2 | 360 | 0.0056 | 0 | c.363 others(5): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 4/5 | chr22 | TogoVar | |||||||
BRIX1_chr5_34910711_34930996 | 34925223 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(14): Show |
50 | 436 | 0.1147 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BZW2_chr7_16641181_16711517 | 16682767 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG01081.hp2 HG01109.hp1 HG01167.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 others(41): Show |
46 | 416 | 0.1106 | 1 | c.340 others(6): Show |
BZW2 | ENSG00000136261.16 | transcript | ENST00000258761.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(402): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(228): Show |
405 | 412 | 0.9830 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | |||||||
C1QTNF5_chr11_119333942_119345883 | 119340275 | ATGGTGGC others(124): Show |
A | frameshift_variant others(1): Show |
HIGH | NA18967.hp2 | a0004 | a0004c0004 | a0004c0004t0007 | a0004c0004t0007g0013 | 1 | 386 | 0.0026 | -131 | c.-9_ others(6): Show |
p.Met others(3): Show |
C1QTNF5 | ENSG00000223953.6 | transcript | ENST00000528368.3 | protein_coding | 2/3 | 354/1353 | 1/732 | 1/243 | chr11 | TogoVar | |||
C1QTNF5_chr11_119333942_119345883 | 119340693 | A | C | splice_donor_variant others(1): Show |
HIGH | NA18967.hp2 | a0004 | a0004c0004 | a0004c0004t0007 | a0004c0004t0007g0013 | 1 | 384 | 0.0026 | 0 | c.-44 others(5): Show |
C1QTNF5 | ENSG00000223953.6 | transcript | ENST00000528368.3 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 408312 | T | TC | frameshift_variant | HIGH | HG00639.hp1 HG01175.hp1 HG01884.hp2 others(5): Show |
a0003 | a0003c0005a0003c0017a0003c0018 | a0003c0005t0001a0003c0005t0006a0003c0005t0023others(5): Show | a0003c0005t0001g0147 a0003c0005t0006g0169 a0003c0005t0023g0145 others(5): Show |
8 | 320 | 0.0250 | 1 | c.49d others(3): Show |
p.Glu others(4): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2/2 | 231/3099 | 49/1266 | 17/421 | chr19 | TogoVar | |||
C2orf42_chr2_70144885_70196019 | 70165549 | G | GT | frameshift_variant | HIGH | HG00597.hp2 HG00741.hp1 HG01109.hp1 others(12): Show |
a0003a0005 | a0003c0003a0003c0007a0005c0009 | a0003c0003t0001a0003c0007t0001a0005c0009t0001 | a0003c0003t0001g0016 a0003c0003t0001g0060 a0003c0003t0001g0077 others(12): Show |
15 | 344 | 0.0436 | 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 | |||
CAPN15_chr16_522712_559636 | 536144 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00639.hp1 HG01069.hp2 HG01070.hp2 others(43): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(29): Show | a0001c0001t0001g0018 a0001c0001t0001g0359 a0001c0001t0001g0361 others(41): Show |
46 | 408 | 0.1127 | 0 | c.-23 others(5): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | chr16 | 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 | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 others(111): Show |
176 | 390 | 0.4513 | 0 | c.117 others(6): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | chr15 | TogoVar | |||||||
CBX6_chr22_38856422_38877216 | 38866233 | A | AC | frameshift_variant | HIGH | HG01891.hp2 HG02055.hp1 HG02523.hp1 others(6): Show |
a0002a0003a0004 | a0002c0007a0003c0006a0004c0005 | a0002c0007t0022a0003c0006t0012a0003c0006t0019others(5): Show | a0002c0007t0022g0071 a0003c0006t0012g0127 a0003c0006t0019g0128 others(6): Show |
9 | 404 | 0.0223 | 1 | c.121 others(5): Show |
p.Gly others(5): Show |
CBX6 | ENSG00000183741.12 | transcript | ENST00000407418.8 | protein_coding | 5/5 | 1240/6052 | 1214/1239 | 405/412 | chr22 | TogoVar | |||
CCDC168_chr13_102724367_102764072 | 102741282 | C | A | stop_gained | HIGH | NA18967.hp2 | a0082 | a0082c0054 | a0082c0054t0001 | a0082c0054t0001g0067 | 1 | 358 | 0.0028 | 0 | c.941 others(4): Show |
p.Glu others(5): Show |
CCDC168 | ENSG00000175820.4 | transcript | ENST00000322527.4 | protein_coding | 4/4 | 9555/21470 | 9415/21246 | 3139/7081 | chr13 | TogoVar | |||
CCHCR1_chr6_31137439_31162802 | 31157072 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(67): Show |
186 | 454 | 0.4097 | 0 | c.234 others(3): Show |
p.Trp others(3): Show |
CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 2/18 | 436/2971 | 234/2616 | 78/871 | chr6 | TogoVar | |||
CD200R1L_chr3_112810711_112851864 | 112827063 | GT | G | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(45): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0001a0003c0006t0001 | a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0020 others(25): Show |
48 | 406 | 0.1182 | -1 | c.545 others(4): Show |
p.His others(5): Show |
CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/8 | 1143/1603 | 545/753 | 182/250 | chr3 | TogoVar | |||
CD40_chr20_46113314_46134858 | 46128304 | C | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG01433.hp1 HG02145.hp1 HG03927.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 others(6): Show |
15 | 236 | 0.0636 | 3 | c.647 others(14): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CD44_chr11_35134171_35237402 | 35176590 | G | GCCGCTTT others(12): Show |
frameshift_variant | HIGH | NA18967.hp1 | a0008 | a0008c0020 | a0008c0020t0001 | a0008c0020t0001g0241 | 1 | 376 | 0.0027 | 19 | c.85_ others(25): Show |
p.His others(4): Show |
CD44 | ENSG00000026508.21 | transcript | ENST00000428726.8 | protein_coding | 2/18 | 237/5431 | 104/2229 | 35/742 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
CDC42BPA_chr1_226984865_227323492 | 227119803 | C | G | splice_donor_variant others(1): Show |
HIGH | NA18967.hp1 | a0014 | a0014c0019 | a0014c0019t0001 | a0014c0019t0001g0164 | 1 | 350 | 0.0029 | 0 | c.164 others(6): Show |
CDC42BPA | ENSG00000143776.20 | transcript | ENST00000366766.8 | protein_coding | 12/36 | chr1 | TogoVar | |||||||
CDH15_chr16_89166748_89200492 | 89187454 | TGCAGGTG others(3): Show |
T | frameshift_variant | HIGH | NA18967.hp2 | a0020 | a0020c0036 | a0020c0036t0001 | a0020c0036t0001g0168 | 1 | 404 | 0.0025 | -10 | c.691 others(17): Show |
p.Gln others(5): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 6/14 | 775/2866 | 691/2445 | 231/814 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
CDH15_chr16_89166748_89200492 | 89195074 | C | A | stop_gained | HIGH | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(38): Show |
a0004a0005a0020others(2): Show | a0004c0005a0004c0019a0005c0006others(3): Show | a0004c0005t0001a0004c0019t0005a0005c0006t0001others(3): Show | a0004c0005t0001g0017 a0004c0005t0001g0019 a0004c0005t0001g0047 others(28): Show |
41 | 404 | 0.1015 | 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 | |||
CEACAM21_chr19_41571166_41591844 | 41586462 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 others(39): Show |
163 | 392 | 0.4158 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
CEACAM7_chr19_41668303_41693270 | 41686923 | A | T | stop_gained | HIGH | NA18967.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0074 | 1 | 410 | 0.0024 | 0 | c.363 others(3): Show |
p.Tyr others(4): Show |
CEACAM7 | ENSG00000007306.15 | transcript | ENST00000401731.6 | protein_coding | 2/5 | 468/2376 | 363/798 | 121/265 | chr19 | TogoVar | |||
CEACAM7_chr19_41668303_41693270 | 41686977 | G | T | stop_gained | HIGH | NA18967.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0074 | 1 | 410 | 0.0024 | 0 | c.309 others(3): Show |
p.Tyr others(4): Show |
CEACAM7 | ENSG00000007306.15 | transcript | ENST00000401731.6 | protein_coding | 2/5 | 414/2376 | 309/798 | 103/265 | chr19 | TogoVar | |||
CEL_chr9_133056981_133076861 | 133071467 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(35): Show |
a0001a0008a0017 | a0001c0001a0001c0002a0008c0020others(1): Show | a0001c0001t0001a0001c0002t0001a0008c0020t0001others(1): Show | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 others(13): Show |
38 | 397 | 0.0957 | 1 | c.196 others(10): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1988/2381 | 1966/2262 | 656/753 | chr9 | TogoVar | |||
CENPV_chr17_16337537_16358469 | 16353140 | C | CG | frameshift_variant | HIGH | HG02055.hp1 HG02559.hp2 NA18967.hp1 others(4): Show |
a0003a0006 | a0003c0003a0006c0004 | a0003c0003t0001a0006c0004t0001 | a0003c0003t0001g0014 a0003c0003t0001g0069 a0003c0003t0001g0070 others(1): Show |
7 | 354 | 0.0198 | 1 | c.296 others(4): Show |
p.Thr others(5): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 1/5 | 329/1132 | 296/819 | 99/272 | chr17 | 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 |
a0001a0009a0014others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show |
175 | 482 | 0.3631 | 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 | |||
CHRND_chr2_232521160_232541664 | 232530019 | C | T | stop_gained | HIGH | NA18967.hp2 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0002 | 1 | 436 | 0.0023 | 0 | c.700 others(3): Show |
p.Gln others(4): Show |
CHRND | ENSG00000135902.10 | transcript | ENST00000258385.8 | protein_coding | 7/12 | 756/2962 | 700/1554 | 234/517 | chr2 | TogoVar | |||
CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(351): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(247): Show |
354 | 422 | 0.8389 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39679963 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show |
134 | 368 | 0.3641 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CPN2_chr3_194334768_194356328 | 194341178 | G | A | stop_gained | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(132): Show |
a0001a0004a0010others(4): Show | a0001c0002a0001c0011a0001c0014others(7): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(17): Show | a0001c0002t0003g0002 a0001c0002t0003g0004 a0001c0002t0003g0013 others(55): Show |
135 | 438 | 0.3082 | 0 | c.152 others(4): Show |
p.Gln others(4): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 2/2 | 1615/3025 | 1525/1638 | 509/545 | chr3 | TogoVar | |||
CPT1C_chr19_49686116_49718731 | 49705086 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00735.hp2 others(14): Show |
a0002a0004 | a0002c0003a0002c0005a0004c0007 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(3): Show | a0002c0003t0001g0139 a0002c0003t0001g0142 a0002c0003t0001g0221 others(14): Show |
17 | 348 | 0.0489 | 1 | c.853 others(4): Show |
p.Arg others(5): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 9/20 | 1162/2846 | 854/2412 | 285/803 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0016a0001c0029others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(268): Show |
275 | 343 | 0.8017 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240932891 | C | CG | frameshift_variant | HIGH | HG00735.hp1 HG01952.hp1 HG02559.hp2 others(6): Show |
a0011 | a0011c0019a0011c0038a0011c0042others(5): Show | a0011c0019t0001a0011c0038t0001a0011c0042t0002others(5): Show | a0011c0019t0001g0213 a0011c0019t0001g0223 a0011c0038t0001g0068 others(6): Show |
9 | 346 | 0.0260 | 1 | c.123 others(5): Show |
p.Trp others(5): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 9/32 | 1415/5370 | 1237/4962 | 413/1653 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
CYP2F1_chr19_41109432_41133381 | 41116202 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0002 | a0002c0002a0002c0003a0002c0005others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0011others(17): Show | a0002c0002t0001g0034 a0002c0002t0002g0003 a0002c0002t0002g0007 others(89): Show |
114 | 372 | 0.3065 | 1 | c.15d others(3): Show |
p.Thr others(3): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 2/10 | 88/1847 | 16/1476 | 6/491 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CYP46A1_chr14_99679298_99732301 | 99691106 | TTTTGGAA others(6): Show |
T | frameshift_variant | HIGH | NA18967.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0137 | 1 | 372 | 0.0027 | -13 | c.147 others(20): Show |
p.Phe others(4): Show |
CYP46A1 | ENSG00000036530.9 | transcript | ENST00000261835.8 | protein_coding | 2/15 | 267/2197 | 147/1503 | 49/500 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
CYP4B1_chr1_46794046_46824413 | 46815074 | GAT | G | frameshift_variant others(1): Show |
HIGH | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(65): Show |
a0003 | a0003c0003a0003c0018a0003c0019 | a0003c0003t0001a0003c0003t0003a0003c0018t0003others(1): Show | a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0101 others(36): Show |
68 | 398 | 0.1709 | -2 | c.884 others(9): Show |
p.Asp others(5): Show |
CYP4B1 | ENSG00000142973.16 | transcript | ENST00000371923.9 | protein_coding | 8/12 | 920/2174 | 884/1539 | 295/512 | chr1 | TogoVar | |||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(17): Show |
268 | 454 | 0.5903 | 0 | c.349 others(3): Show |
p.Arg others(4): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | 589/3135 | 349/735 | 117/244 | chr5 | TogoVar | |||
DEFB126_chr20_137590_150751 | 145514 | GCAAA | G | frameshift_variant | HIGH | HG00323.hp1 HG00642.hp2 HG00673.hp1 others(58): Show |
a0003 | a0003c0003a0003c0006a0003c0009 | a0003c0003t0001a0003c0006t0001a0003c0009t0001 | a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0012 others(5): Show |
61 | 458 | 0.1332 | -4 | c.163 others(11): Show |
p.Gln others(4): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 202/434 | 163/336 | 55/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
DEFB126_chr20_137590_150751 | 145669 | ACC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(229): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0003c0006others(2): Show | a0002c0002t0001a0003c0003t0001a0003c0006t0001others(2): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(16): Show |
232 | 458 | 0.5066 | -2 | c.317 others(9): Show |
p.Pro others(5): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 356/434 | 317/336 | 106/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
DENND4B_chr1_153924501_153951718 | 153944088 | C | CCCCTGCG others(6): Show |
frameshift_variant | HIGH | NA18967.hp1 | a0006 | a0006c0021 | a0006c0021t0001 | a0006c0021t0001g0094 | 1 | 384 | 0.0026 | 13 | c.274 others(20): Show |
p.Gly others(4): Show |
DENND4B | ENSG00000198837.10 | transcript | ENST00000361217.9 | protein_coding | 2/28 | 727/5728 | 286/4491 | 96/1496 | chr1 | TogoVar |