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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRTC1_chr19_18678680_18787333 | 18776003 | G | GGGCCA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(67): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0003g0253a0001c0001t0004g0009a0001c0001t0004g0010others(67): Show | 70 | 274 | 0.2555 | 5 | c.169 others(22): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18786763 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0026a0001c0001t0005g0036a0001c0001t0005g0130others(2): Show | 5 | 274 | 0.0183 | 5 | c.*93 others(16): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 4431 | chr19 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90577029 | T | TTTTTG | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(50): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(50): Show | 53 | 276 | 0.1920 | 5 | c.232 others(24): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90621348 | A | AGTATC | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01081.hp2 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0016others(14): Show | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0157others(37): Show | 40 | 276 | 0.1449 | 5 | c.749 others(22): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90630756 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01516.hp2 HG02055.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0009a0001c0004t0005a0001c0004t0008others(5): Show | a0001c0001t0009g0041a0001c0004t0005g0004a0001c0004t0005g0009others(6): Show | 9 | 276 | 0.0326 | 5 | c.126 others(24): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90634129 | T | TTGAGA | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp1 HG03098.hp1 others(3): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0001a0003c0003t0001a0004c0005t0001 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0165others(3): Show | 6 | 276 | 0.0217 | 5 | c.126 others(24): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 11/14 | chr15 | TogoVar | ||||||
CRX_chr19_47816937_47848324 | 47824990 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp2 others(44): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0109a0001c0001t0001g0160a0001c0001t0001g0207others(42): Show | 47 | 344 | 0.1366 | 5 | c.-36 others(22): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRX_chr19_47816937_47848324 | 47827537 | C | CTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00738.hp2 others(31): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(6): Show | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0137others(30): Show | 34 | 344 | 0.0988 | 5 | c.-36 others(22): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRX_chr19_47816937_47848324 | 47840703 | C | CTTTTT | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01243.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0019a0001c0001t0071 | a0001c0001t0013g0020a0001c0001t0013g0255a0001c0001t0013g0256others(8): Show | 11 | 344 | 0.0320 | 5 | c.*75 others(14): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 4/4 | 757 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
CRY1_chr12_106986364_107098549 | 107010134 | T | TTTTCA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(261): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(251): Show | 264 | 320 | 0.8250 | 5 | c.268 others(22): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107026149 | T | TATAAC | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0157a0001c0003t0006g0158a0001c0003t0006g0159others(1): Show | 4 | 320 | 0.0125 | 5 | c.159 others(22): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107051952 | A | ATTGTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(170): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(162): Show | 173 | 320 | 0.5406 | 5 | c.159 others(24): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107098202 | A | AAAAGG | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01257.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003 | a0001c0001t0004g0007a0001c0001t0004g0161a0001c0001t0004g0167others(7): Show | 10 | 320 | 0.0313 | 5 | c.-52 others(16): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 4654 | chr12 | TogoVar | ||||||
CRY2_chr11_45842475_45888244 | 45876226 | C | CTCTGA | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01167.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0012a0001c0001t0008g0214 | 5 | 368 | 0.0136 | 5 | c.*2+ others(20): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRYAA_chr21_43164008_43177805 | 43167834 | A | AATAAT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00621.hp2 others(8): Show |
a0000a0001a0002others(1): Show | a0000c0004a0001c0001a0001c0002others(2): Show | a0000c0004t0007a0001c0001t0001a0001c0002t0001others(3): Show | a0000c0004t0007g0014a0001c0001t0001g0019a0001c0002t0001g0006others(7): Show | 11 | 40 | 0.2750 | 5 | c.-12 others(16): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 1173 | chr21 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218711 | A | AGAGAG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017a0001c0001t0001g0046a0001c0001t0001g0091others(18): 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 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0111a0001c0001t0001g0199a0001c0002t0001g0002others(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 | a0001c0001t0001g0006a0001c0001t0001g0090a0001c0001t0003g0006 | 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 |
a0012a0018a0021others(1): Show | a0012c0015a0018c0037a0021c0026others(1): Show | a0012c0015t0003a0018c0037t0001a0021c0026t0001others(1): Show | a0012c0015t0003g0241a0012c0015t0003g0242a0018c0037t0001g0253others(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 |
a0001a0009a0015others(6): Show | a0001c0001a0009c0012a0015c0018others(6): Show | a0001c0001t0001a0009c0012t0002a0015c0018t0002others(6): Show | a0001c0001t0001g0042a0009c0012t0002g0231a0015c0018t0002g0263others(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 |
a0004a0015a0023others(3): Show | a0004c0004a0015c0018a0023c0025others(3): Show | a0004c0004t0002a0015c0018t0002a0023c0025t0002others(3): Show | a0004c0004t0002g0142a0004c0004t0002g0181a0004c0004t0002g0195others(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 |
a0001a0012a0014others(5): Show | a0001c0001a0012c0015a0014c0017others(5): Show | a0001c0001t0001a0012c0015t0007a0014c0017t0007others(5): Show | a0001c0001t0001g0165a0001c0001t0001g0173a0012c0015t0007g0239others(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(53): Show | a0001c0001a0001c0009a0001c0022others(62): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(83): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(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 | a0001c0001t0003g0077a0001c0001t0003g0084a0002c0003t0003g0094others(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 |
a0004a0012a0022 | a0004c0004a0012c0014a0022c0026 | a0004c0004t0001a0012c0014t0001a0022c0026t0001 | a0004c0004t0001g0210a0004c0004t0001g0211a0004c0004t0001g0243others(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 | 97900406 | C | CAACTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(128): Show |
a0001a0002a0005others(18): Show | a0001c0003a0001c0004a0001c0022others(21): Show | a0001c0003t0002a0001c0004t0002a0001c0022t0002others(21): Show | a0001c0003t0002g0001a0001c0003t0002g0010a0001c0003t0002g0030others(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 | a0001c0002t0001g0018a0001c0002t0001g0024a0001c0002t0001g0045others(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 |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0003a0001c0002t0001g0004a0001c0002t0001g0008others(34): 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 | a0001c0001t0001g0024a0001c0001t0001g0034a0001c0001t0003g0005others(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 |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(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 | a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0065others(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 | a0001c0001t0001g0033a0001c0001t0001g0053a0001c0001t0001g0056others(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 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0033others(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 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0033others(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 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0104others(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 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(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 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0173others(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 | a0001c0001t0001g0216a0001c0001t0002g0009a0001c0001t0002g0123others(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 | a0002c0002t0002g0004a0002c0002t0002g0005a0002c0002t0002g0021others(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 | a0001c0001t0002g0003a0001c0001t0002g0013a0001c0001t0002g0069others(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 | a0001c0001t0001g0011a0001c0001t0001g0143a0001c0001t0001g0151others(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 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0102a0001c0001t0001g0108a0001c0001t0001g0109others(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 |
a0001a0006 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0200a0001c0001t0001g0248a0001c0001t0001g0256others(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 |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0001a0001c0001t0002a0006c0004t0002 | a0001c0001t0001g0304a0001c0001t0001g0309a0001c0001t0001g0318others(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 | a0001c0001t0001g0024a0001c0001t0001g0078a0001c0001t0002g0028others(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 | a0002c0003t0001g0272a0002c0003t0001g0289a0002c0003t0001g0339others(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 | a0001c0001t0002g0105a0001c0002t0004g0063a0001c0014t0005g0150others(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 | a0001c0018t0003g0107a0002c0003t0002g0140a0002c0004t0005g0125others(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 | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0066others(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 |