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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRYBB2_chr22_25214639_25236869 | 25218711 | A | AGAGAG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(50): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0007 | a0001c0001t0001a0001c0002t0001a0006c0007t0001 | a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0091 others(19): Show |
53 | 464 | 0.1142 | 5 | c.-98 others(14): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 927 | chr22 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAAAGA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01074.hp1 others(10): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0111 a0001c0001t0001g0199 a0001c0002t0001g0002 others(8): Show |
13 | 464 | 0.0280 | 5 | c.-91 others(14): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | |||||||
CRYBB3_chr22_25194858_25212359 | 25196440 | T | TTTTTC | upstream_gene_variant | MODIFIER | NA18942.hp1 NA18948.hp2 NA18951.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0006 a0001c0001t0001g0090 a0001c0001t0003g0006 |
12 | 454 | 0.0264 | 5 | c.-34 others(16): Show |
CRYBB3 | ENSG00000100053.10 | transcript | ENST00000215855.7 | protein_coding | 3417 | chr22 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106462164 | T | TTTTTG | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03486.hp2 others(2): Show |
a0010a0023a0025others(1): Show | a0010c0013a0023c0038a0025c0026others(1): Show | a0010c0013t0003a0023c0038t0001a0025c0026t0001others(1): Show | a0010c0013t0003g0241 a0010c0013t0003g0242 a0023c0038t0001g0253 others(2): Show |
5 | 272 | 0.0184 | 5 | c.312 others(24): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106472909 | T | TAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02486.hp2 others(6): Show |
a0001a0009a0012others(6): Show | a0001c0001a0009c0012a0012c0023others(6): Show | a0001c0001t0001a0009c0012t0002a0012c0023t0001others(6): Show | a0001c0001t0001g0042 a0009c0012t0002g0231 a0012c0023t0001g0265 others(6): Show |
9 | 272 | 0.0331 | 5 | c.312 others(24): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106521711 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01978.hp1 HG01978.hp2 others(8): Show |
a0004a0013a0017others(3): Show | a0004c0004a0013c0017a0017c0025others(3): Show | a0004c0004t0002a0013c0017t0002a0017c0025t0002others(3): Show | a0004c0004t0002g0142 a0004c0004t0002g0181 a0004c0004t0002g0195 others(8): Show |
11 | 272 | 0.0404 | 5 | c.424 others(22): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106542608 | C | CATTTT | intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG03098.hp2 others(7): Show |
a0001a0010a0014others(5): Show | a0001c0001a0010c0013a0014c0016others(5): Show | a0001c0001t0001a0010c0013t0007a0014c0016t0007others(5): Show | a0001c0001t0001g0165 a0001c0001t0001g0173 a0010c0013t0007g0239 others(7): Show |
10 | 272 | 0.0368 | 5 | c.488 others(22): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106562493 | C | CTTTAT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(223): Show |
a0001a0002a0003others(58): Show | a0001c0001a0001c0009a0001c0022others(69): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(91): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0020 others(223): Show |
226 | 272 | 0.8309 | 5 | c.613 others(22): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106566464 | C | CTTTTT | intron_variant | MODIFIER | HG02559.hp1 HG02647.hp2 HG02818.hp1 others(13): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0011others(7): Show | a0001c0001t0003a0002c0003t0003a0002c0011t0003others(9): Show | a0001c0001t0003g0077 a0001c0001t0003g0084 a0002c0003t0003g0094 others(13): Show |
16 | 272 | 0.0588 | 5 | c.630 others(24): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG2_chr1_26316865_26359130 | 26347284 | G | GTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp2 HG03225.hp2 others(3): Show |
a0003a0009a0030 | a0003c0004a0009c0014a0030c0027 | a0003c0004t0001a0009c0014t0001a0030c0027t0001 | a0003c0004t0001g0209 a0003c0004t0001g0210 a0003c0004t0001g0242 others(2): Show |
6 | 376 | 0.0160 | 5 | c.-55 others(20): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
CRYBG3_chr3_97817011_97949984 | 97877640 | A | AAGAAG | frameshift_variant | HIGH | NA19077.hp1 | a0041 | a0041c0033 | a0041c0033t0002 | a0041c0033t0002g0212 | 1 | 316 | 0.0032 | 5 | c.644 others(14): Show |
p.Glu others(6): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 4/22 | 6650/10779 | 6454/8913 | 2152/2970 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
CRYBG3_chr3_97817011_97949984 | 97900406 | C | CAACTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(128): Show |
a0001a0002a0005others(19): Show | a0001c0003a0001c0004a0001c0022others(22): Show | a0001c0003t0002a0001c0004t0002a0001c0022t0002others(22): Show | a0001c0003t0002g0001 a0001c0003t0002g0010 a0001c0003t0002g0030 others(108): Show |
131 | 316 | 0.4146 | 5 | c.797 others(20): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CRYGB_chr2_208137573_208151158 | 208144022 | G | GTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG01243.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 a0001c0002t0001g0023 a0001c0002t0001g0046 others(4): Show |
10 | 414 | 0.0242 | 5 | c.253 others(22): Show |
CRYGB | ENSG00000182187.4 | transcript | ENST00000260988.5 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
CRYGB_chr2_208137573_208151158 | 208149238 | T | TAAAAG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(175): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(1): Show | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0008 others(35): Show |
178 | 414 | 0.4300 | 5 | c.-31 others(16): Show |
CRYGB | ENSG00000182187.4 | transcript | ENST00000260988.5 | protein_coding | 3081 | chr2 | TogoVar | |||||||
CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTT | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG01256.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0003g0005 others(9): Show |
20 | 452 | 0.0443 | 5 | c.*17 others(16): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | |||||||
CRYGN_chr7_151423832_151445141 | 151441778 | A | AAAGGG | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(63): Show |
a0001a0002a0006 | a0001c0001a0002c0005a0006c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0029 others(12): Show |
66 | 452 | 0.1460 | 5 | c.-18 others(16): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 1638 | chr7 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20456638 | A | ACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00609.hp1 others(81): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0065 others(80): Show |
84 | 250 | 0.3360 | 5 | c.277 others(24): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20485685 | T | TAGAAA | intron_variant | MODIFIER | HG00673.hp2 HG01071.hp2 HG01074.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0056 others(37): Show |
40 | 250 | 0.1600 | 5 | c.276 others(22): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20509250 | T | TTTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 others(234): Show |
238 | 250 | 0.9520 | 5 | c.149 others(22): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20519605 | A | AAGGGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 others(188): Show |
191 | 250 | 0.7640 | 5 | c.41+ others(20): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20522911 | C | CTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG02280.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 others(17): Show |
20 | 250 | 0.0800 | 5 | c.41+ others(20): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
CRYZL1_chr21_33584341_33646741 | 33597613 | T | TCTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(251): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(247): Show |
254 | 360 | 0.7056 | 5 | c.677 others(20): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 9/12 | chr21 | TogoVar | |||||||
CRYZL1_chr21_33584341_33646741 | 33600932 | A | ATGTTT | intron_variant | MODIFIER | HG01975.hp1 HG02559.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 others(2): Show |
5 | 360 | 0.0139 | 5 | c.577 others(22): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 8/12 | chr21 | TogoVar | |||||||
CRYZ_chr1_74700486_74738050 | 74709948 | A | ATAAAT | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01074.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0216 a0001c0001t0002g0009 a0001c0001t0002g0123 others(45): Show |
57 | 372 | 0.1532 | 5 | c.630 others(20): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 6/8 | chr1 | TogoVar | |||||||
CSAG1_chrX_152722484_152738721 | 152724271 | A | ACCTTT | downstream_gene_variant | MODIFIER | NA18948.hp1 NA18963.hp2 NA18965.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0021 others(3): Show |
10 | 318 | 0.0315 | 5 | c.*35 others(16): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 3212 | chrX | TogoVar | |||||||
CSAG2_chrX_152703261_152714273 | 152709629 | G | GAGAGA | upstream_gene_variant | MODIFIER | HG01123.hp2 HG02083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 211 | 0.0095 | 5 | c.-51 others(14): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 357 | chrX | TogoVar | |||||||
CSE1L_chr20_49041312_49101949 | 49050200 | T | TTTTTA | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01891.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0001a0002c0003t0001 | a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0069 others(21): Show |
25 | 386 | 0.0648 | 5 | c.-12 others(22): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49061486 | A | ATTTAT | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG01192.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0143 a0001c0001t0001g0151 others(7): Show |
10 | 386 | 0.0259 | 5 | c.86- others(20): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49065586 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG02135.hp2 others(11): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 others(11): Show |
14 | 386 | 0.0363 | 5 | c.229 others(20): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49067031 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG00733.hp1 others(41): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0200 a0001c0001t0001g0248 a0001c0001t0001g0256 others(40): Show |
44 | 386 | 0.1140 | 5 | c.477 others(20): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49085562 | A | ATTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01099.hp2 others(14): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0002a0005c0004t0002 | a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0318 others(14): Show |
17 | 386 | 0.0440 | 5 | c.172 others(22): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150074305 | G | GTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00621.hp2 others(41): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0024 a0001c0001t0001g0078 a0001c0001t0002g0028 others(40): Show |
44 | 406 | 0.1084 | 5 | c.890 others(20): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 5/20 | chr5 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150089021 | A | AAAAAC | upstream_gene_variant | MODIFIER | HG01346.hp1 HG01975.hp2 HG01978.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0003 | a0002c0003t0001g0272 a0002c0003t0001g0289 a0002c0003t0001g0339 others(2): Show |
5 | 406 | 0.0123 | 5 | c.-25 others(16): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 2468 | chr5 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1282031 | T | TAAAAA | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0014others(5): Show | a0001c0001t0002a0001c0002t0004a0001c0014t0005others(6): Show | a0001c0001t0002g0105 a0001c0002t0004g0063 a0001c0014t0005g0150 others(8): Show |
11 | 159 | 0.0692 | 5 | c.-26 others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1284195 | C | CTCTTT | intron_variant | MODIFIER | HG01993.hp1 HG02109.hp2 HG02559.hp2 others(3): Show |
a0001a0002 | a0001c0018a0002c0003a0002c0004others(2): Show | a0001c0018t0003a0002c0003t0002a0002c0004t0005others(2): Show | a0001c0018t0003g0107 a0002c0003t0002g0140 a0002c0004t0005g0125 others(3): Show |
6 | 159 | 0.0377 | 5 | c.76+ others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1289688 | T | TTTTTG | intron_variant | MODIFIER | HG01346.hp2 HG01981.hp1 HG02145.hp1 others(33): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0066 others(33): Show |
36 | 159 | 0.2264 | 5 | c.474 others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1289784 | A | ATTTTG | intron_variant | MODIFIER | HG01070.hp1 HG01891.hp2 HG02630.hp1 |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0004 | a0002c0003t0002g0030 a0002c0003t0002g0157 a0002c0003t0004g0131 |
3 | 159 | 0.0189 | 5 | c.474 others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19525615 | C | CAAAAA | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 HG03195.hp1 others(3): Show |
a0001a0002a0011 | a0001c0001a0002c0003a0002c0012others(1): Show | a0001c0001t0006a0002c0003t0003a0002c0003t0004others(3): Show | a0001c0001t0006g0005 a0002c0003t0003g0099 a0002c0003t0004g0006 others(3): Show |
6 | 238 | 0.0252 | 5 | c.-29 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19541553 | A | ATTTTT | intron_variant | MODIFIER | HG02717.hp2 HG02897.hp1 HG02965.hp2 others(5): Show |
a0001a0002 | a0001c0002a0002c0012 | a0001c0002t0003a0001c0002t0004a0001c0002t0007others(3): Show | a0001c0002t0003g0098 a0001c0002t0004g0153 a0001c0002t0007g0189 others(5): Show |
8 | 238 | 0.0336 | 5 | c.-29 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19549656 | C | CTTTTT | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG02886.hp2 others(2): Show |
a0002a0003 | a0002c0004a0002c0012a0003c0005 | a0002c0004t0005a0002c0012t0042a0003c0005t0004others(1): Show | a0002c0004t0005g0015 a0002c0012t0042g0091 a0003c0005t0004g0094 others(2): Show |
5 | 238 | 0.0210 | 5 | c.-29 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19610289 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG01070.hp2 others(31): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(19): Show | a0001c0001t0001g0222 a0001c0001t0002g0205 a0001c0001t0010g0088 others(31): Show |
34 | 238 | 0.1429 | 5 | c.-39 others(24): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19612946 | G | GAAAAA | intron_variant | MODIFIER | HG01361.hp1 HG01515.hp2 HG02056.hp2 others(6): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0022a0001c0002t0023others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0053 a0001c0002t0022g0169 others(6): Show |
9 | 238 | 0.0378 | 5 | c.-39 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19670650 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG02486.hp2 others(4): Show |
a0001a0002a0014 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0012others(2): Show | a0001c0001t0001g0171 a0001c0002t0004g0153 a0001c0002t0012g0036 others(4): Show |
7 | 238 | 0.0294 | 5 | c.-39 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19676084 | T | TAAAAA | intron_variant | MODIFIER | HG00733.hp2 HG01261.hp1 HG01934.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0004others(7): Show | a0001c0001t0002g0163 a0001c0002t0001g0115 a0001c0002t0004g0038 others(7): Show |
10 | 238 | 0.0420 | 5 | c.-39 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19716612 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01257.hp1 HG01258.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0106 a0001c0001t0001g0138 others(10): Show |
13 | 238 | 0.0546 | 5 | c.-39 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19727327 | A | ATTTGG | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00738.hp2 others(41): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(22): Show | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 others(41): Show |
44 | 238 | 0.1849 | 5 | c.-39 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSH2_chr17_63867016_63878677 | 63874696 | A | AAAAAG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(285): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(20): Show |
288 | 410 | 0.7024 | 5 | c.-10 others(16): Show |
CSH2 | ENSG00000213218.11 | transcript | ENST00000392886.7 | protein_coding | 1020 | chr17 | TogoVar | |||||||
CSKMT_chr11_62660312_62673108 | 62661375 | C | CAAAAT | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 others(1): Show |
9 | 362 | 0.0249 | 5 | c.-41 others(16): Show |
CSKMT | ENSG00000214756.8 | transcript | ENST00000532971.2 | protein_coding | 3936 | chr11 | TogoVar | |||||||
CSK_chr15_74777080_74808197 | 74779114 | A | AAAAAC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(70): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0001t0009a0001c0003t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0013 others(36): Show |
73 | 394 | 0.1853 | 5 | c.-36 others(16): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 2965 | chr15 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 2932858 | A | ATTTCT | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02056.hp1 HG04204.hp1 |
a0001a0004a0034 | a0001c0002a0004c0057a0034c0055 | a0001c0002t0002a0004c0057t0080a0034c0055t0034 | a0001c0002t0002g0083 a0004c0057t0080g0075 a0034c0055t0034g0047 |
3 | 126 | 0.0238 | 5 | c.*57 others(16): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2502 | chr8 | TogoVar |