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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CMSS1_chr3_99812862_100186732 | 99916437 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 232 | 0.0043 | -14 | c.64+ others(31): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 99957693 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG03041.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0190a0001c0001t0005g0082a0001c0001t0005g0083 | 3 | 232 | 0.0129 | -14 | c.64+ others(33): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 99983414 | ATATATGT others(7): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009a0001c0001t0009g0010 | 2 | 232 | 0.0086 | -14 | c.65- others(33): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100021915 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 232 | 0.0043 | -14 | c.65- others(33): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100021950 | TGTGTGTG others(7): Show |
T | intron_variant | MODIFIER | NA18972.hp1 NA19009.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183a0001c0001t0001g0204a0001c0001t0001g0221 | 3 | 232 | 0.0129 | -14 | c.65- others(33): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100021958 | TGTGAGAG others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG03130.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0003 | a0001c0001t0005g0144a0002c0002t0003g0137 | 2 | 232 | 0.0086 | -14 | c.65- others(33): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100021960 | TGAGAGAG others(7): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0143 | 1 | 232 | 0.0043 | -14 | c.65- others(33): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100115575 | GTCTCTCT others(7): Show |
G | intron_variant | MODIFIER | HG01975.hp2 HG03225.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0164a0001c0001t0007g0032a0001c0001t0007g0033 | 3 | 232 | 0.0129 | -14 | c.65- others(31): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100117840 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 232 | 0.0043 | -14 | c.65- others(31): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100135438 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG02040.hp2 NA19030.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0074a0001c0001t0002g0092a0001c0001t0004g0016 | 3 | 232 | 0.0129 | -14 | c.65- others(31): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100139563 | GTGTATGT others(7): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0002 | 1 | 232 | 0.0043 | -14 | c.65- others(29): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM4_chr16_66609750_66701743 | 66633086 | AAAATATA others(7): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0083 | 1 | 320 | 0.0031 | -14 | c.363 others(31): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
CMTM7_chr3_32386853_32460528 | 32412480 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG02055.hp1 HG03139.hp2 others(23): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0155a0001c0001t0001g0156others(23): Show | 26 | 368 | 0.0707 | -14 | c.159 others(33): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM7_chr3_32386853_32460528 | 32440070 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(148): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(143): Show | 151 | 368 | 0.4103 | -14 | c.160 others(31): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM7_chr3_32386853_32460528 | 32454923 | ATGGCCCT others(7): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0292 | 1 | 368 | 0.0027 | -14 | c.*67 others(23): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 5/5 | 672 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
CMYA5_chr5_79684836_79805222 | 79698304 | CAAAAAAC others(7): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0035 | a0035c0037 | a0035c0037t0011 | a0035c0037t0011g0319 | 1 | 358 | 0.0028 | -14 | c.149 others(31): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86874986 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG03195.hp2 HG03209.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(3): Show | 6 | 152 | 0.0395 | -14 | c.88+ others(29): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86925482 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00741.hp2 others(24): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0006t0001 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0094others(24): Show | 27 | 152 | 0.1776 | -14 | c.273 others(33): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86951581 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0006t0001 | a0001c0001t0003g0134a0001c0006t0001g0098 | 2 | 152 | 0.0132 | -14 | c.431 others(33): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86979415 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 152 | 0.0066 | -14 | c.431 others(33): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87255972 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 152 | 0.0066 | -14 | c.771 others(33): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87256003 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 152 | 0.0066 | -14 | c.771 others(33): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87256005 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 152 | 0.0066 | -14 | c.771 others(33): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87256007 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0009 | 1 | 152 | 0.0066 | -14 | c.771 others(33): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87281541 | GATATATA others(7): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02818.hp1 others(5): Show |
a0001a0003a0004 | a0001c0001a0001c0008a0003c0004others(1): Show | a0001c0001t0001a0001c0008t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0047a0001c0001t0001g0075others(5): Show | 8 | 152 | 0.0526 | -14 | c.772 others(31): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBP_chr3_129162827_129188896 | 129164210 | CAAAAAAA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0364 | 1 | 430 | 0.0023 | -14 | c.*62 others(25): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 3616 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172683 | GACAGACA others(7): Show |
G | intron_variant | MODIFIER | HG03669.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275a0001c0001t0001g0286 | 2 | 430 | 0.0047 | -14 | c.-14 others(29): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74551361 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0261 | 1 | 390 | 0.0026 | -14 | c.25- others(29): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNDP2_chr18_74491363_74528454 | 74517956 | CTGGGTTT others(7): Show |
C | intron_variant | MODIFIER | NA18987.hp2 | a0009 | a0009c0015 | a0009c0015t0004 | a0009c0015t0004g0258 | 1 | 424 | 0.0024 | -14 | c.106 others(31): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNGA1_chr4_47930977_48021681 | 47984661 | TATACACA others(7): Show |
T | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 366 | 0.0027 | -14 | c.-12 others(33): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47984663 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 366 | 0.0027 | -14 | c.-12 others(33): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 48012558 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01891.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0086a0001c0001t0003g0093a0001c0003t0003g0087others(5): Show | 8 | 366 | 0.0219 | -14 | c.-22 others(33): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 1/10 | chr4 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879743 | TTCTTTCT others(7): Show |
T | downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02451.hp1 others(9): Show |
a0001a0002a0004others(4): Show | a0001c0019a0001c0053a0002c0005others(7): Show | a0001c0019t0019a0001c0053t0004a0002c0005t0041others(7): Show | a0001c0019t0019g0286a0001c0019t0019g0299a0001c0053t0004g0200others(9): Show | 12 | 360 | 0.0333 | -14 | c.*44 others(25): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2596 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57885543 | TTCTTTCC others(7): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG03130.hp1 |
a0001a0002 | a0001c0007a0002c0011 | a0001c0007t0004a0002c0011t0004 | a0001c0007t0004g0046a0002c0011t0004g0185 | 2 | 360 | 0.0056 | -14 | c.346 others(33): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 32/32 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57885578 | CTTTCTTT others(7): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01109.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0097a0002c0006others(4): Show | a0001c0004t0003a0001c0097t0003a0002c0006t0003others(4): Show | a0001c0004t0003g0151a0001c0097t0003g0231a0002c0006t0003g0022others(4): Show | 7 | 360 | 0.0194 | -14 | c.346 others(33): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 32/32 | chr16 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86600776 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG01070.hp2 NA19066.hp2 |
a0001a0014 | a0001c0001a0014c0018 | a0001c0001t0001a0014c0018t0001 | a0001c0001t0001g0085a0014c0018t0001g0206 | 2 | 288 | 0.0069 | -14 | c.178 others(33): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 15/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86635851 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02683.hp1 others(1): Show |
a0002a0011 | a0002c0002a0011c0012 | a0002c0002t0001a0002c0002t0003a0011c0012t0001others(1): Show | a0002c0002t0001g0195a0002c0002t0003g0199a0011c0012t0001g0146others(1): Show | 4 | 288 | 0.0139 | -14 | c.117 others(33): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 10/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86635853 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG02083.hp1 HG03453.hp2 NA18948.hp2 others(1): Show |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0001a0006c0006t0001 | a0002c0002t0001g0156a0002c0002t0001g0192a0002c0002t0001g0193others(1): Show | 4 | 288 | 0.0139 | -14 | c.117 others(33): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 10/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86720833 | TATGTATA others(7): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02071.hp1 HG02886.hp1 others(8): Show |
a0001a0011 | a0001c0001a0011c0012 | a0001c0001t0001a0011c0012t0001a0011c0012t0006 | a0001c0001t0001g0227a0001c0001t0001g0231a0001c0001t0001g0232others(8): Show | 11 | 288 | 0.0382 | -14 | c.338 others(31): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86720839 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00741.hp2 others(17): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0152a0001c0001t0001g0160others(17): Show | 20 | 288 | 0.0694 | -14 | c.338 others(31): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86735042 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0173 | 1 | 288 | 0.0035 | -14 | c.211 others(31): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21409228 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01261.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0039a0001c0001t0001g0052others(45): Show | 48 | 163 | 0.2945 | -14 | c.65- others(31): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21415833 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 163 | 0.0061 | -14 | c.65- others(31): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR3_chr6_154382515_154515685 | 154413139 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01934.hp1 others(6): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0020a0001c0002t0036a0001c0002t0136others(4): Show | a0001c0002t0020g0175a0001c0002t0020g0176a0001c0002t0036g0079others(6): Show | 9 | 342 | 0.0263 | -14 | c.107 others(33): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 10/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154451532 | CGCACACG others(7): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01106.hp2 HG02015.hp1 others(36): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0004a0001c0001t0021a0001c0001t0027others(29): Show | a0001c0001t0004g0128a0001c0001t0021g0290a0001c0001t0027g0292others(36): Show | 39 | 342 | 0.1140 | -14 | c.53- others(29): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154454104 | CAGAGAGA others(7): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0059a0001c0002t0036a0001c0002t0065others(1): Show | a0001c0001t0059g0042a0001c0002t0036g0079a0001c0002t0036g0143others(2): Show | 5 | 342 | 0.0146 | -14 | c.53- others(29): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154500256 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03471.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0086a0001c0002t0041a0001c0002t0179others(1): Show | a0001c0001t0086g0096a0001c0002t0041g0052a0001c0002t0179g0186others(1): Show | 4 | 342 | 0.0117 | -14 | c.52+ others(29): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CNN1_chr19_11533851_11555323 | 11553582 | TACACACA others(7): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG02040.hp2 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0035a0001c0002t0001g0148a0001c0002t0001g0157others(8): Show | 17 | 392 | 0.0434 | -14 | c.*37 others(25): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 3260 | chr19 | TogoVar | ||||||
CNN2_chr19_1021608_1044065 | 1021945 | GGAGCGCA others(7): Show |
G | upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0197 | 1 | 390 | 0.0026 | -14 | c.-47 others(25): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4662 | chr19 | TogoVar | ||||||
CNN3_chr1_94891957_94932110 | 94918493 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071 | 1 | 426 | 0.0024 | -14 | c.57+ others(29): Show |
CNN3 | ENSG00000117519.16 | transcript | ENST00000370206.9 | protein_coding | 1/6 | chr1 | TogoVar |