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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFHR2_chr1_196938738_196964622 | 196962648 | GCTAAATG others(6): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp1 HG03098.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0079 | 3 | 370 | 0.0081 | -13 | c.*35 others(24): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 3027 | chr1 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 196999690 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 356 | 0.0028 | -13 | c.114 others(32): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196692809 | TCTTTCTT others(6): Show |
T | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 308 | 0.0033 | -13 | c.133 others(32): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753195 | AATATTTA others(6): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0149 | 1 | 354 | 0.0028 | -13 | c.905 others(28): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109756875 | AGAAAGAA others(6): Show |
A | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 354 | 0.0028 | -13 | c.904 others(28): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114033 | TATATATA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 234 | 0.0043 | -13 | c.-25 others(24): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2130 | chr2 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117613999 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0142 | 1 | 202 | 0.0050 | -13 | c.336 others(30): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CGGBP1_chr3_88046950_88064005 | 88050344 | ATATTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02015.hp2 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 358 | 0.0056 | -13 | c.*51 others(24): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 1605 | chr3 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57378363 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0263 | 1 | 294 | 0.0034 | -13 | c.-16 others(30): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57383613 | TTTCTTTT others(6): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02080.hp1 HG02145.hp1 others(26): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0039a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0044a0001c0001t0001g0126a0001c0001t0001g0127others(26): Show | 29 | 294 | 0.0986 | -13 | c.-16 others(30): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57403252 | CGCCCCTC others(6): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032a0001c0001t0002g0033 | 2 | 294 | 0.0068 | -13 | c.-16 others(32): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57405828 | TTTTCTTT others(6): Show |
T | intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0195 | 1 | 294 | 0.0034 | -13 | c.-16 others(32): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57437619 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG01070.hp2 others(21): Show |
a0001a0002a0020 | a0001c0005a0001c0015a0002c0008others(1): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0004others(4): Show | a0001c0005t0001g0053a0001c0005t0001g0097a0001c0005t0001g0222others(21): Show | 24 | 294 | 0.0816 | -13 | c.-15 others(28): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57499238 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(68): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0059a0001c0001t0001g0073a0001c0001t0001g0102others(67): Show | 71 | 294 | 0.2415 | -13 | c.240 others(34): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGREF1_chr2_27095594_27124128 | 27111733 | GGGCCGGC others(6): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG03041.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0016 | a0001c0004t0001g0322a0001c0004t0016g0321 | 2 | 352 | 0.0057 | -13 | c.-12 others(30): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27116913 | CTCTCTCT others(6): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 352 | 0.0028 | -13 | c.-12 others(30): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CHAC1_chr15_40948471_40961512 | 40951595 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG02129.hp1 HG02129.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008 | 16 | 420 | 0.0381 | -13 | c.-19 others(24): Show |
CHAC1 | ENSG00000128965.13 | transcript | ENST00000617768.5 | protein_coding | 1875 | chr15 | TogoVar | ||||||
CHADL_chr22_41224513_41245931 | 41242136 | ATATATAC others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02970.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 2 | 414 | 0.0048 | -13 | c.-12 others(24): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 1206 | chr22 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 NA18942.hp2 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0006 | a0001c0001t0001g0271a0007c0010t0006g0367a0007c0010t0006g0368 | 3 | 384 | 0.0078 | -13 | c.104 others(28): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36403455 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 346 | 0.0029 | -13 | c.757 others(28): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49649866 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(119): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0029others(107): Show | 122 | 418 | 0.2919 | -13 | c.151 others(30): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHCHD10_chr22_23760834_23772972 | 23765314 | CAACTAGC others(6): Show |
C | downstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 431 | 0.0023 | -13 | c.*68 others(22): Show |
CHCHD10 | ENSG00000250479.9 | transcript | ENST00000484558.3 | protein_coding | 519 | chr22 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132957611 | AGCTGGGA others(6): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 310 | 0.0032 | -13 | c.369 others(32): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 133005004 | CAATTTCA others(6): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 310 | 0.0032 | -13 | c.251 others(32): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 133050340 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG01891.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0140a0001c0001t0002g0214a0001c0001t0002g0215 | 3 | 310 | 0.0097 | -13 | c.169 others(32): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126913207 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp1 HG01167.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(3): Show | 6 | 216 | 0.0278 | -13 | c.496 others(30): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126934536 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 216 | 0.0046 | -13 | c.566 others(32): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD7_chr8_56206789_56223809 | 56209736 | TACTCCAG others(6): Show |
T | upstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 384 | 0.0026 | -13 | c.-21 others(24): Show |
CHCHD7 | ENSG00000170791.18 | transcript | ENST00000355315.8 | protein_coding | 2052 | chr8 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883849 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0066 | 1 | 334 | 0.0030 | -13 | c.256 others(30): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6607667 | CCCCAACA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG02027.hp2 others(13): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(1): Show | a0001c0002t0001g0128a0001c0002t0002g0050a0001c0002t0002g0059others(11): Show | 16 | 374 | 0.0428 | -13 | c.-45 others(22): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 289 | chr12 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41419554 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG03209.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0037a0001c0001t0001g0088others(3): Show | 6 | 324 | 0.0185 | -13 | c.612 others(30): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/36 | chr20 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21457628 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 260 | 0.0039 | -13 | c.-18 others(24): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1506 | chr14 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53048009 | AGGAAGGG others(6): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0092 | 1 | 406 | 0.0025 | -13 | c.-18 others(30): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53142748 | TAATTTAT others(6): Show |
T | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 238 | 0.0042 | -13 | c.-16 others(34): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53246085 | GTCCTCTT others(6): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0236 | 1 | 238 | 0.0042 | -13 | c.345 others(30): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 15/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHGB_chr20_5906510_5930353 | 5926069 | ATATATAT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01346.hp1 HG01496.hp1 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0042others(6): Show | 13 | 440 | 0.0296 | -13 | c.*10 others(24): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 717 | chr20 | TogoVar | ||||||
CHKA_chr11_68047859_68126388 | 68102099 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00544.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0006others(20): Show | 23 | 276 | 0.0833 | -13 | c.351 others(30): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CHML_chr1_241623851_241645369 | 241631958 | ACCAGATT others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0069 | 1 | 452 | 0.0022 | -13 | c.*18 others(24): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 2/2 | 1825 | chr1 | TogoVar | |||||
CHMP1A_chr16_89639435_89662708 | 89640803 | TAAAGACA others(6): Show |
T | downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 392 | 0.0026 | -13 | c.*52 others(24): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 3631 | chr16 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89642447 | TATATTTT others(6): Show |
T | downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0190 | 1 | 392 | 0.0026 | -13 | c.*36 others(24): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 1987 | chr16 | TogoVar | ||||||
CHMP4C_chr8_81727448_81764515 | 81734454 | CCGAGTCG others(6): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(29): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0005a0001c0001t0007a0001c0001t0011others(5): Show | a0001c0001t0005g0061a0001c0001t0005g0062a0001c0001t0005g0252others(23): Show | 32 | 408 | 0.0784 | -13 | c.190 others(30): Show |
CHMP4C | ENSG00000164695.5 | transcript | ENST00000297265.5 | protein_coding | 1/4 | chr8 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85973300 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03041.hp2 |
a0003 | a0003c0004 | a0003c0004t0014 | a0003c0004t0014g0234a0003c0004t0014g0235 | 2 | 245 | 0.0082 | -13 | c.314 others(30): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4/14 | chrX | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174926374 | TTTTAAAT others(6): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214a0001c0001t0001g0219 | 2 | 276 | 0.0073 | -13 | c.115 others(30): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 3/12 | chr2 | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 175010252 | TATAGTAG others(6): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 276 | 0.0036 | -13 | c.-53 others(24): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 4872 | chr2 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29210431 | ACACACAC others(6): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp2 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0012a0001c0002t0002a0001c0002t0005others(2): Show | a0001c0001t0012g0172a0001c0002t0002g0171a0001c0002t0005g0173others(2): Show | 5 | 232 | 0.0216 | -13 | c.49+ others(30): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29283922 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01069.hp1 NA18612.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0004 | a0001c0001t0012g0055a0001c0002t0004g0004 | 2 | 232 | 0.0086 | -13 | c.50- others(30): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29412336 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG00741.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0009a0001c0001t0001g0140a0001c0001t0001g0141others(22): Show | 25 | 232 | 0.1078 | -13 | c.576 others(32): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29482797 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00639.hp1 others(55): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0009a0001c0001t0001g0082a0001c0001t0001g0103others(55): Show | 58 | 232 | 0.2500 | -13 | c.654 others(30): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHP1_chr15_41226268_41286887 | 41265363 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150a0001c0001t0001g0151 | 2 | 298 | 0.0067 | -13 | c.349 others(30): Show |
CHP1 | ENSG00000187446.12 | transcript | ENST00000334660.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHP2_chr16_23750026_23763935 | 23750925 | CTTTCTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | -13 | c.-41 others(24): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 4100 | chr16 | TogoVar |