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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2M_chr12_9062708_9120919 | 9093580 | CTATGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(38): Show | 50 | 332 | 0.1506 | -5 | c.212 others(18): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | 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 | ||
ACTR3C_chr7_150242212_150328545 | 150286477 | G | A | stop_gained | HIGH | HG00741.hp1 HG02698.hp1 HG02976.hp1 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0095a0003c0003t0001g0136a0003c0003t0001g0177others(5): Show | 8 | 294 | 0.0272 | 0 | c.361 others(3): Show |
p.Gln others(4): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 5/8 | 489/1157 | 361/633 | 121/210 | chr7 | TogoVar | ||
ADGRA2_chr8_37791883_37849896 | 37841784 | C | CG | frameshift_variant | HIGH | HG00408.hp2 HG00673.hp1 HG01192.hp1 others(10): Show |
a0004a0008a0015others(1): Show | a0004c0011a0004c0015a0008c0019others(4): Show | a0004c0011t0001a0004c0015t0001a0008c0019t0001others(4): Show | a0004c0011t0001g0041a0004c0011t0001g0073a0004c0011t0001g0306others(10): Show | 13 | 370 | 0.0351 | 1 | c.345 others(5): Show |
p.Ala others(6): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 19/19 | 3838/6944 | 3452/4017 | 1151/1338 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
AFDN_chr6_167821911_167977023 | 167951476 | A | AC | frameshift_variant | HIGH | HG00642.hp2 HG01109.hp2 HG02622.hp2 others(6): Show |
a0002 | a0002c0013a0002c0014a0002c0017others(4): Show | a0002c0013t0001a0002c0013t0002a0002c0014t0001others(5): Show | a0002c0013t0001g0034a0002c0013t0002g0267a0002c0014t0001g0020others(6): Show | 9 | 326 | 0.0276 | 1 | c.412 others(5): Show |
p.Pro others(6): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 30/34 | 4350/7806 | 4128/5496 | 1376/1831 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
AGAP4_chr10_45820594_45852500 | 45828081 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 382 | 0.0026 | 0 | c.534 others(5): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 6/7 | chr10 | TogoVar | ||||||
AGAP4_chr10_45820594_45852500 | 45834015 | C | T | splice_donor_variant others(1): Show |
HIGH | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 382 | 0.0026 | 0 | c.497 others(5): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 5/7 | chr10 | TogoVar | ||||||
AGAP6_chr10_49983406_50015499 | 49988768 | A | AC | frameshift_variant | HIGH | HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show |
a0003 | a0003c0003a0003c0014a0003c0031 | a0003c0003t0003a0003c0003t0009a0003c0003t0010others(3): Show | a0003c0003t0003g0011a0003c0003t0003g0017a0003c0003t0003g0024others(25): Show | 39 | 406 | 0.0961 | 1 | c.55d others(3): Show |
p.Gln others(4): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 1/8 | 366/2684 | 56/2061 | 19/686 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
AGAP6_chr10_49983406_50015499 | 50008914 | CAA | C | frameshift_variant | HIGH | HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show |
a0003 | a0003c0003a0003c0014a0003c0031 | a0003c0003t0003a0003c0003t0009a0003c0003t0010others(3): Show | a0003c0003t0003g0011a0003c0003t0003g0017a0003c0003t0003g0024others(25): Show | 39 | 406 | 0.0961 | -2 | c.791 others(9): Show |
p.Lys others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 8/8 | 1101/2684 | 791/2061 | 264/686 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
AKR1C8_chr10_5148920_5190150 | 5159943 | GTGATTGA others(229): Show |
G | frameshift_variant others(3): Show |
HIGH | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(40): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0002a0003c0006t0002 | a0003c0004t0002g0005a0003c0004t0002g0008a0003c0004t0002g0009others(27): Show | 43 | 408 | 0.1054 | -236 | c.457 others(11): Show |
p.Ala others(5): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 5/9 | 564/1247 | 457/981 | 153/326 | chr10 | 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 | ||||||
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 | ||||||
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 | |
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 | ||
ATM_chr11_108218067_108374102 | 108250683 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(157): Show | 160 | 304 | 0.5263 | 1 | c.123 others(7): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 9/62 | INFO_REALIGN_3_PRIME | chr11 | 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 | ||||||
BRD4_chr19_15230519_15337539 | 15244475 | C | CG | frameshift_variant | HIGH | HG00741.hp1 HG01109.hp1 HG01175.hp2 others(16): Show |
a0002a0005a0010 | a0002c0003a0002c0007a0002c0018others(7): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(14): Show | a0002c0003t0001g0048a0002c0003t0002g0090a0002c0003t0003g0193others(16): Show | 19 | 208 | 0.0914 | 1 | c.233 others(5): Show |
p.Pro others(5): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 13/20 | 2620/7231 | 2336/4089 | 779/1362 | chr19 | TogoVar | ||
BRD4_chr19_15230519_15337539 | 15244535 | C | CG | frameshift_variant | HIGH | HG00140.hp1 HG00639.hp2 HG00741.hp1 others(7): Show |
a0004a0005 | a0004c0005a0004c0021a0005c0014others(2): Show | a0004c0005t0001a0004c0005t0006a0004c0005t0009others(6): Show | a0004c0005t0001g0053a0004c0005t0006g0150a0004c0005t0009g0009others(7): Show | 10 | 208 | 0.0481 | 1 | c.227 others(5): Show |
p.Pro others(5): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 13/20 | 2560/7231 | 2276/4089 | 759/1362 | chr19 | 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 | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0001g0026others(19): Show | 50 | 440 | 0.1136 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | 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 | |
C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(115): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(241): Show | 406 | 414 | 0.9807 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | ||||||
C17orf107_chr17_4894536_4907934 | 4900416 | G | A | stop_gained | HIGH | HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(4): Show | a0002c0002t0001g0001a0002c0002t0002g0001a0002c0002t0006g0001others(4): Show | 94 | 442 | 0.2127 | 0 | c.456 others(3): Show |
p.Trp others(4): Show |
C17orf107 | ENSG00000205710.4 | transcript | ENST00000381365.4 | protein_coding | 3/3 | 683/3201 | 456/573 | 152/190 | chr17 | TogoVar | ||
C3orf52_chr3_112081389_112123210 | 112109537 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0011a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0067a0001c0001t0001g0118a0001c0001t0002g0002others(98): Show | 157 | 372 | 0.4220 | 1 | c.397 others(6): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf84_chr3_49172634_49196858 | 49188964 | ATTTTTTT others(1699): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG03942.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0127 | 1 | 306 | 0.0033 | -1706 | c.28- others(15): Show |
C3orf84 | ENSG00000236980.10 | transcript | ENST00000545770.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
C9orf43_chr9_113405747_113434690 | 113428964 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(19): Show |
a0001a0012 | a0001c0001a0012c0007 | a0001c0001t0001a0012c0007t0008 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0084others(1): Show | 22 | 310 | 0.0710 | 0 | c.117 others(6): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 13/13 | chr9 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13207516 | C | CG | frameshift_variant | HIGH | HG01106.hp1 HG01109.hp1 HG01255.hp2 others(15): Show |
a0009a0010a0014others(5): Show | a0009c0014a0009c0051a0009c0076others(13): Show | a0009c0014t0002a0009c0014t0046a0009c0051t0002others(14): Show | a0009c0014t0002g0048a0009c0014t0002g0195a0009c0014t0046g0176others(15): Show | 18 | 218 | 0.0826 | 1 | c.731 others(5): Show |
p.Val others(6): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7572/8647 | 7317/7521 | 2439/2506 | chr19 | TogoVar | ||
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(11): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02486.hp1 HG03540.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0011a0001c0001t0045others(1): Show | a0001c0001t0008g0063a0001c0001t0011g0125a0001c0001t0045g0128others(1): Show | 4 | 200 | 0.0200 | 18 | c.121 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC198_chr14_57464300_57498857 | 57481662 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(133): Show | 261 | 362 | 0.7210 | 0 | c.394 others(5): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | chr14 | 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(6): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0063others(39): Show | 163 | 393 | 0.4148 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
CEL_chr9_133056981_133076861 | 133071304 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | HG00438.hp1 HG00738.hp1 HG02647.hp2 others(3): Show |
a0001a0005 | a0001c0056a0001c0057a0001c0061others(3): Show | a0001c0056t0001a0001c0057t0001a0001c0061t0001others(3): Show | a0001c0056t0001g0008a0001c0057t0001g0008a0001c0061t0001g0006others(3): Show | 6 | 416 | 0.0144 | -65 | c.181 others(74): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1832/2381 | 1810/2262 | 604/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071369 | G | GC | frameshift_variant | HIGH | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(21): Show |
a0001a0005a0007others(1): Show | a0001c0054a0001c0055a0001c0058others(20): Show | a0001c0054t0001a0001c0055t0001a0001c0058t0001others(20): Show | a0001c0054t0001g0056a0001c0055t0001g0001a0001c0058t0001g0001others(21): Show | 24 | 416 | 0.0577 | 1 | c.187 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1898/2381 | 1876/2262 | 626/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071468 | G | GC | frameshift_variant | HIGH | HG01109.hp2 HG01169.hp2 HG01175.hp1 others(20): Show |
a0001a0004a0005others(6): Show | a0001c0055a0001c0062a0001c0063others(19): Show | a0001c0055t0001a0001c0062t0001a0001c0063t0001others(19): Show | a0001c0055t0001g0001a0001c0062t0001g0007a0001c0063t0001g0003others(19): Show | 23 | 416 | 0.0553 | 1 | c.197 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071501 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(49): Show |
a0001a0004a0005others(10): Show | a0001c0054a0001c0060a0001c0061others(48): Show | a0001c0054t0001a0001c0060t0001a0001c0061t0001others(48): Show | a0001c0054t0001g0056a0001c0060t0001g0001a0001c0061t0001g0006others(48): Show | 52 | 416 | 0.1250 | 1 | c.200 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2030/2381 | 2008/2262 | 670/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071533 | G | GC | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(179): Show |
a0001a0002a0004others(26): Show | a0001c0019a0001c0020a0001c0054others(112): Show | a0001c0019t0001a0001c0020t0001a0001c0054t0001others(112): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0020t0001g0001others(140): Show | 182 | 416 | 0.4375 | 1 | c.204 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071567 | G | GC | frameshift_variant | HIGH | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0004others(19): Show | a0001c0054a0001c0055a0001c0056others(60): Show | a0001c0054t0001a0001c0055t0001a0001c0056t0001others(60): Show | a0001c0054t0001g0056a0001c0055t0001g0001a0001c0056t0001g0008others(73): Show | 85 | 416 | 0.2043 | 1 | c.207 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2096/2381 | 2074/2262 | 692/753 | INFO_REALIGN_3_PRIME | chr9 | 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 | ||
CHRFAM7A_chr15_30355566_30398540 | 30373077 | TCA | T | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(50): Show |
a0001 | a0001c0001a0001c0007a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0045a0001c0001t0001g0048others(49): Show | 53 | 133 | 0.3985 | -2 | c.227 others(9): Show |
p.Leu others(4): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 6/10 | 673/3411 | 227/1239 | 76/412 | chr15 | TogoVar | ||
CHST12_chr7_2398611_2453484 | 2403653 | GCGCGAGG others(7): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG01106.hp1 HG02015.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0290a0001c0001t0291a0001c0001t0292others(5): Show | a0001c0001t0290g0132a0001c0001t0291g0220a0001c0001t0292g0217others(5): Show | 8 | 344 | 0.0233 | -14 | c.-84 others(23): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/2 | 28960 | INFO_REALIGN_3_PRIME | chr7 | 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 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(123): Show | 134 | 370 | 0.3622 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL6A5_chr3_130340672_130489846 | 130440486 | C | T | stop_gained | HIGH | HG01070.hp2 HG01074.hp1 HG01192.hp1 others(2): Show |
a0015 | a0015c0015 | a0015c0015t0001a0015c0015t0002a0015c0015t0009 | a0015c0015t0001g0005a0015c0015t0001g0125a0015c0015t0002g0226others(1): Show | 5 | 292 | 0.0171 | 0 | c.614 others(4): Show |
p.Gln others(5): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/41 | 6486/8969 | 6148/7845 | 2050/2614 | chr3 | TogoVar | ||
CPN2_chr3_194334768_194356328 | 194341178 | G | A | stop_gained | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(133): Show |
a0002a0005a0010others(4): Show | a0002c0002a0002c0011a0002c0014others(7): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0007others(17): Show | a0002c0002t0003g0002a0002c0002t0003g0004a0002c0002t0003g0006others(62): Show | 136 | 440 | 0.3091 | 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 | ||
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 | |||||
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 | ||
CT45A6_chrX_135789685_135807787 | 135796239 | C | CA | frameshift_variant | HIGH | HG03942.hp1 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0023 | 1 | 36 | 0.0278 | 1 | c.452 others(4): Show |
p.Gln others(5): Show |
CT45A6 | ENSG00000278289.5 | transcript | ENST00000620654.2 | protein_coding | 4/5 | 735/1066 | 452/570 | 151/189 | chrX | TogoVar | ||
CT45A6_chrX_135789685_135807787 | 135796806 | A | AC | frameshift_variant | HIGH | HG03942.hp1 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0023 | 1 | 36 | 0.0278 | 1 | c.266 others(4): Show |
p.Ser others(4): Show |
CT45A6 | ENSG00000278289.5 | transcript | ENST00000620654.2 | protein_coding | 3/5 | 549/1066 | 266/570 | 89/189 | chrX | TogoVar | ||
CT45A6_chrX_135789685_135807787 | 135798879 | T | TC | frameshift_variant | HIGH | HG03942.hp1 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0023 | 1 | 36 | 0.0278 | 1 | c.114 others(4): Show |
p.Lys others(4): Show |
CT45A6 | ENSG00000278289.5 | transcript | ENST00000620654.2 | protein_coding | 2/5 | 397/1066 | 114/570 | 38/189 | chrX | TogoVar | ||
CT47C1_chrX_119067993_119081765 | 119073764 | T | TG | frameshift_variant | HIGH | HG03942.hp1 | a0014 | a0014c0017 | a0014c0017t0002 | a0014c0017t0002g0002 | 1 | 310 | 0.0032 | 1 | c.544 others(4): Show |
p.Ala others(5): Show |
CT47C1 | ENSG00000277535.4 | transcript | ENST00000620151.4 | protein_coding | 1/3 | 778/1772 | 545/975 | 182/324 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CXorf51A_chrX_146809106_146819744 | 146811328 | AGGTTTGT others(3365): Show |
A | exon_loss_variant | HIGH | HG01071.hp2 HG02683.hp1 HG02683.hp2 others(10): Show |
a0000 | a0000c0002 | a0000c0002t0002 | a0000c0002t0002g0004 | 13 | 264 | 0.0492 | -3372 | c.24_ others(8): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 2/2 | chrX | TogoVar |