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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP5_chr2_124020287_124926219 | 124739907 | AGCTGTG | A | intron_variant | MODIFIER | HG01069.hp1 HG02145.hp2 HG02293.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(5): Show | a0001c0001t0001g0043a0001c0001t0002g0022a0001c0001t0002g0023others(8): Show | 11 | 64 | 0.1719 | -6 | c.207 others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124773909 | CGTGTGT | C | intron_variant | MODIFIER | HG02293.hp2 HG02886.hp1 HG03130.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0043a0001c0001t0002g0048a0001c0001t0003g0006others(4): Show | 7 | 64 | 0.1094 | -6 | c.275 others(23): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124773943 | TGTGTGA | T | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp2 HG02698.hp2 others(3): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0002t0003a0004c0006t0001others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0026others(3): Show | 6 | 64 | 0.0938 | -6 | c.275 others(23): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124773945 | TGTGAGA | T | intron_variant | MODIFIER | HG01891.hp2 HG02922.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0059a0001c0002t0002g0031 | 2 | 64 | 0.0313 | -6 | c.275 others(23): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124856075 | GGTGTGT | G | intron_variant | MODIFIER | HG01891.hp1 HG03225.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0017a0001c0002t0016others(1): Show | a0001c0001t0004g0053a0001c0001t0017g0012a0001c0002t0016g0055others(1): Show | 4 | 64 | 0.0625 | -6 | c.321 others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124864573 | TCACACA | T | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp2 HG02897.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0007a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0007g0039a0001c0002t0001g0064a0001c0002t0002g0060others(2): Show | 5 | 64 | 0.0781 | -6 | c.321 others(23): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124872374 | CTGTGTG | C | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0002t0003 | a0001c0001t0003g0006a0001c0001t0009g0061a0001c0002t0003g0004others(1): Show | 4 | 64 | 0.0625 | -6 | c.343 others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124885549 | TCACACA | T | intron_variant | MODIFIER | HG00423.hp2 HG01891.hp2 HG02145.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0026others(10): Show | 13 | 64 | 0.2031 | -6 | c.343 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124897936 | AGTGTGT | A | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01891.hp2 others(19): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(10): Show | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0026others(19): Show | 22 | 64 | 0.3438 | -6 | c.343 others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124903845 | GGAGTTC | G | intron_variant | MODIFIER | HG02717.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0003 | a0001c0001t0018a0001c0002t0008a0001c0002t0016others(1): Show | a0001c0001t0018g0021a0001c0002t0008g0058a0001c0002t0016g0055others(1): Show | 4 | 64 | 0.0625 | -6 | c.365 others(23): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTROB_chr17_7927206_7954920 | 7932530 | GGGAGCT | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(398): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0012a0001c0014others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(218): Show | 401 | 402 | 0.9975 | -6 | c.-54 others(15): Show |
CNTROB | ENSG00000170037.14 | transcript | ENST00000563694.6 | protein_coding | 1/19 | 537 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
COA1_chr7_43634257_43734523 | 43638566 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01433.hp1 HG03942.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0042a0001c0001t0001g0086others(6): Show | 9 | 384 | 0.0234 | -6 | c.*10 others(17): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 690 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43639219 | AAGGAAG | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01070.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0001g0163others(69): Show | 72 | 384 | 0.1875 | -6 | c.*35 others(15): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 37 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691342 | AGGGAGG | A | intron_variant | MODIFIER | HG00741.hp2 HG02630.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0145a0001c0001t0001g0147others(1): Show | 4 | 384 | 0.0104 | -6 | c.-39 others(25): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691406 | AGGAAGG | A | intron_variant | MODIFIER | HG00544.hp1 HG02976.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0078a0001c0001t0001g0118others(1): Show | 4 | 384 | 0.0104 | -6 | c.-39 others(25): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43709434 | TTGTGTG | T | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0074others(6): Show | 9 | 384 | 0.0234 | -6 | c.-39 others(25): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43715006 | TAAAAAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00741.hp2 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(77): Show | 80 | 384 | 0.2083 | -6 | c.-39 others(25): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA3_chr17_42792625_42803704 | 42801508 | AAAATAT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01192.hp1 HG02273.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 10 | 310 | 0.0323 | -6 | c.-28 others(17): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2805 | chr17 | TogoVar | ||||||
COA3_chr17_42792625_42803704 | 42801510 | AATATAT | A | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02083.hp2 HG02622.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0002 | 15 | 310 | 0.0484 | -6 | c.-28 others(17): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2807 | chr17 | TogoVar | ||||||
COA3_chr17_42792625_42803704 | 42801543 | ATATAAT | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0005g0008a0001c0001t0007g0010 | 46 | 310 | 0.1484 | -6 | c.-28 others(17): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2840 | chr17 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234377059 | CGAGAGA | C | intron_variant | MODIFIER | NA18983.hp1 NA19004.hp2 NA19086.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0015a0001c0001t0009g0015 | 4 | 406 | 0.0099 | -6 | c.372 others(23): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COA8_chr14_103557960_103595896 | 103568621 | GTATATA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(85): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0002 | a0001c0003t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0003t0001g0001a0001c0003t0001g0004a0001c0003t0001g0005others(69): Show | 88 | 382 | 0.2304 | -6 | c.124 others(23): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
COBLL1_chr2_164675188_164846823 | 164683005 | TACACAC | T | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG03710.hp1 NA18939.hp2 others(1): Show |
a0001a0005a0015 | a0001c0001a0005c0020a0005c0029others(1): Show | a0001c0001t0033a0005c0020t0031a0005c0029t0016others(1): Show | a0001c0001t0033g0052a0005c0020t0031g0060a0005c0029t0016g0203others(1): Show | 4 | 212 | 0.0189 | -6 | c.*29 others(17): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 14/14 | 2935 | chr2 | TogoVar | |||||
COBLL1_chr2_164675188_164846823 | 164711630 | ATTATAG | A | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01109.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0033others(3): Show | a0001c0001t0056a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0056g0032a0001c0002t0001g0044a0001c0002t0001g0170others(17): Show | 20 | 212 | 0.0943 | -6 | c.997 others(23): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 7/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164725129 | TATATAA | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01361.hp2 others(16): Show |
a0001a0002a0019 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0011a0001c0001t0018a0001c0010t0048others(4): Show | a0001c0001t0011g0195a0001c0001t0011g0196a0001c0001t0018g0167others(15): Show | 19 | 212 | 0.0896 | -6 | c.662 others(23): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 5/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164777331 | TACACAC | T | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01109.hp2 others(33): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0024others(5): Show | a0001c0001t0027a0001c0001t0029a0001c0002t0001others(17): Show | a0001c0001t0027g0188a0001c0001t0029g0179a0001c0002t0001g0044others(33): Show | 36 | 212 | 0.1698 | -6 | c.42- others(23): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164789020 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG02004.hp1 NA19056.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0040a0001c0015t0052 | a0001c0001t0001g0084a0001c0001t0040g0082a0001c0015t0052g0081 | 3 | 212 | 0.0142 | -6 | c.42- others(23): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164801438 | CAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00741.hp2 others(18): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0018a0001c0001t0029a0001c0001t0044others(13): Show | a0001c0001t0018g0167a0001c0001t0029g0179a0001c0001t0044g0173others(18): Show | 21 | 212 | 0.0991 | -6 | c.41+ others(23): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164822734 | ATATTAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00621.hp1 others(32): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(13): Show | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0043others(32): Show | 35 | 212 | 0.1651 | -6 | c.41+ others(23): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51018265 | GTGGTGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(62): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0004a0002c0003others(18): Show | a0001c0002t0001a0001c0004t0001a0002c0003t0001others(20): Show | a0001c0002t0001g0136a0001c0004t0001g0119a0001c0004t0001g0193others(62): Show | 65 | 230 | 0.2826 | -6 | c.376 others(23): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51058554 | AAACAAC | A | intron_variant | MODIFIER | HG02622.hp2 HG03579.hp2 NA20129.hp2 |
a0001a0003a0029 | a0001c0015a0003c0031a0029c0042 | a0001c0015t0014a0003c0031t0001a0029c0042t0001 | a0001c0015t0014g0013a0003c0031t0001g0066a0029c0042t0001g0166 | 3 | 230 | 0.0130 | -6 | c.109 others(27): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51108952 | ACACACC | A | intron_variant | MODIFIER | HG00099.hp1 HG01258.hp2 HG01261.hp2 others(6): Show |
a0001a0003a0010others(3): Show | a0001c0004a0001c0015a0003c0001others(5): Show | a0001c0004t0001a0001c0015t0001a0003c0001t0001others(5): Show | a0001c0004t0001g0010a0001c0015t0001g0181a0003c0001t0001g0025others(6): Show | 9 | 230 | 0.0391 | -6 | c.958 others(25): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51133185 | ATCCTGT | A | intron_variant | MODIFIER | HG02257.hp1 HG02886.hp2 HG03098.hp2 others(1): Show |
a0004a0005a0006 | a0004c0010a0005c0005a0006c0008 | a0004c0010t0005a0004c0010t0012a0005c0005t0008others(1): Show | a0004c0010t0005g0164a0004c0010t0012g0115a0005c0005t0008g0167others(1): Show | 4 | 230 | 0.0174 | -6 | c.957 others(23): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51156698 | TCACACA | T | intron_variant | MODIFIER | HG01109.hp2 HG02896.hp1 HG03041.hp2 others(3): Show |
a0003a0006a0012others(1): Show | a0003c0001a0003c0011a0006c0032others(2): Show | a0003c0001t0001a0003c0011t0001a0006c0032t0004others(2): Show | a0003c0001t0001g0018a0003c0011t0001g0068a0006c0032t0004g0065others(3): Show | 6 | 230 | 0.0261 | -6 | c.784 others(25): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 5/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51272948 | CCAACAA | C | intron_variant | MODIFIER | HG02055.hp1 HG03453.hp2 HG03579.hp1 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0015a0002c0003a0005c0006others(1): Show | a0001c0015t0001a0002c0003t0001a0005c0006t0002others(2): Show | a0001c0015t0001g0181a0002c0003t0001g0008a0005c0006t0002g0040others(3): Show | 6 | 230 | 0.0261 | -6 | c.41+ others(23): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51294325 | TAAATAA | T | intron_variant | MODIFIER | HG01934.hp2 HG02004.hp2 HG02145.hp2 others(1): Show |
a0002a0004 | a0002c0007a0004c0037 | a0002c0007t0001a0004c0037t0001 | a0002c0007t0001g0176a0002c0007t0001g0177a0002c0007t0001g0179others(1): Show | 4 | 230 | 0.0174 | -6 | c.41+ others(23): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45474151 | CTTTTTT | C | intron_variant | MODIFIER | HG01167.hp1 HG01256.hp2 HG02735.hp2 others(3): Show |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0001a0003c0006t0004 | a0001c0002t0001g0252a0001c0002t0001g0253a0001c0002t0001g0254others(3): Show | 6 | 342 | 0.0175 | -6 | c.175 others(23): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45489186 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(74): Show |
a0002a0004 | a0002c0003a0002c0004a0002c0005others(2): Show | a0002c0003t0002a0002c0004t0001a0002c0004t0010others(4): Show | a0002c0003t0002g0005a0002c0003t0002g0006a0002c0003t0002g0007others(67): Show | 77 | 342 | 0.2252 | -6 | c.925 others(23): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45500023 | AAAATAT | A | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG01361.hp2 others(11): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0208a0002c0003t0002g0210a0002c0003t0002g0213others(11): Show | 14 | 342 | 0.0409 | -6 | c.148 others(25): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45500061 | TGTGTGA | T | intron_variant | MODIFIER | HG01975.hp1 HG02572.hp1 HG02615.hp1 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0003a0002c0005t0013 | a0002c0005t0003g0151a0002c0005t0003g0152a0002c0005t0003g0153others(1): Show | 4 | 342 | 0.0117 | -6 | c.148 others(25): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45500094 | GTATATA | G | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG01978.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0002others(2): Show | a0001c0001t0001g0082a0001c0002t0001g0205a0001c0002t0001g0288others(12): Show | 17 | 342 | 0.0497 | -6 | c.148 others(25): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45508421 | CACACAT | C | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01975.hp1 others(3): Show |
a0001a0002 | a0001c0013a0002c0003a0002c0005 | a0001c0013t0004a0002c0003t0002a0002c0005t0003others(1): Show | a0001c0013t0004g0194a0002c0003t0002g0144a0002c0003t0002g0207others(3): Show | 6 | 342 | 0.0175 | -6 | c.159 others(25): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45526076 | ATTTTTT | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp2 others(25): Show |
a0002 | a0002c0003a0002c0007 | a0002c0003t0002a0002c0007t0002 | a0002c0003t0002g0007a0002c0003t0002g0202a0002c0003t0002g0208others(24): Show | 28 | 342 | 0.0819 | -6 | c.223 others(25): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG4_chr16_70475571_70528554 | 70482468 | TTCTAAG | T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0125a0001c0003t0001g0014a0001c0003t0001g0015others(8): Show | 11 | 354 | 0.0311 | -6 | c.192 others(23): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 15/18 | chr16 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70504609 | TAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(151): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0039a0001c0001t0001g0040others(150): Show | 154 | 354 | 0.4350 | -6 | c.106 others(25): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39684243 | ATTTTTT | A | intron_variant | MODIFIER | HG01070.hp1 HG01255.hp2 HG01358.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0020a0002c0002t0002g0248a0002c0002t0002g0249others(9): Show | 12 | 370 | 0.0324 | -6 | c.788 others(23): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG6_chr13_39650662_39757628 | 39694955 | GCACACA | G | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp2 HG01169.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0090a0001c0001t0001g0120a0001c0001t0001g0138others(11): Show | 14 | 370 | 0.0378 | -6 | c.116 others(23): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG6_chr13_39650662_39757628 | 39719994 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(117): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(110): Show | 120 | 370 | 0.3243 | -6 | c.158 others(23): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG7_chr16_23383493_23458189 | 23435656 | TTAGAAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00741.hp2 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0003t0003a0002c0002t0003others(3): Show | a0001c0001t0002g0005a0001c0001t0002g0018a0001c0001t0002g0023others(47): Show | 53 | 272 | 0.1949 | -6 | c.605 others(21): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 4/16 | chr16 | TogoVar | ||||||
COG8_chr16_69321428_69344564 | 69331453 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00621.hp1 others(49): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0028a0001c0002t0003others(13): Show | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0050others(27): Show | 52 | 360 | 0.1444 | -6 | c.158 others(23): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 4/5 | chr16 | TogoVar |