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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP95_chr9_69815817_69911227 | 69843541 | TCCTCCTC others(13): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 380 | 0.0026 | -20 | c.153 others(35): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75384852 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 314 | 0.0032 | -20 | c.650 others(39): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75393737 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02738.hp1 NA18942.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0160a0001c0001t0002g0163a0001c0002t0001g0060 | 3 | 314 | 0.0096 | -20 | c.650 others(37): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFD_chr19_854664_868641 | 857033 | AAAATAAA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0054 | 2 | 287 | 0.0070 | -20 | c.-26 others(31): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2630 | chr19 | TogoVar | ||||||
CFHR1_chr1_196814731_196837189 | 196824748 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02523.hp1 HG03486.hp1 others(5): Show |
a0003a0008 | a0003c0005a0003c0006a0008c0008 | a0003c0005t0001a0003c0006t0001a0008c0008t0001 | a0003c0005t0001g0008a0003c0006t0001g0016a0008c0008t0001g0008 | 8 | 275 | 0.0291 | -20 | c.59- others(33): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR3_chr1_196769840_196800407 | 196773673 | TATATATA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG03130.hp2 HG03471.hp2 others(3): Show |
a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0018a0002c0001t0003g0087a0002c0001t0003g0088others(1): Show | 6 | 261 | 0.0230 | -20 | c.-12 others(31): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 1166 | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196790738 | TAATAAAT others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(116): Show |
a0002a0006 | a0002c0001a0006c0008 | a0002c0001t0002a0002c0001t0003a0002c0001t0008others(5): Show | a0002c0001t0002g0003a0002c0001t0002g0004a0002c0001t0002g0005others(60): Show | 119 | 261 | 0.4559 | -20 | c.796 others(35): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR3_chr1_196769840_196800407 | 196796082 | TGTCTCCA others(13): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02523.hp1 NA18945.hp1 others(4): Show |
a0003a0005 | a0003c0004a0005c0007 | a0003c0004t0005a0005c0007t0007 | a0003c0004t0005g0010a0005c0007t0007g0031a0005c0007t0007g0032 | 7 | 261 | 0.0268 | -20 | c.*25 others(31): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 676 | chr1 | TogoVar | ||||||
CFHR4_chr1_196883052_196923633 | 196920971 | TGTCTCCA others(13): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01884.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009a0002c0002t0001g0047 | 6 | 350 | 0.0171 | -20 | c.*25 others(31): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2339 | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196692746 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01081.hp2 others(19): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0008t0001others(5): Show | a0001c0001t0001g0133a0001c0001t0001g0178a0001c0001t0001g0200others(19): Show | 22 | 308 | 0.0714 | -20 | c.133 others(39): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714656 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02155.hp1 NA18747.hp1 NA19043.hp2 |
a0002a0005a0009 | a0002c0002a0005c0005a0009c0013 | a0002c0002t0001a0005c0005t0003a0009c0013t0001 | a0002c0002t0001g0110a0005c0005t0003g0246a0009c0013t0001g0210 | 3 | 308 | 0.0097 | -20 | c.151 others(37): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714658 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01928.hp1 others(7): Show |
a0002a0009 | a0002c0002a0009c0013 | a0002c0002t0001a0009c0013t0001 | a0002c0002t0001g0055a0002c0002t0001g0066a0002c0002t0001g0081others(7): Show | 10 | 308 | 0.0325 | -20 | c.151 others(37): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714660 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp1 HG03942.hp2 others(8): Show |
a0002a0019 | a0002c0002a0019c0028 | a0002c0002t0001a0019c0028t0001 | a0002c0002t0001g0065a0002c0002t0001g0067a0002c0002t0001g0113others(8): Show | 11 | 308 | 0.0357 | -20 | c.151 others(37): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714662 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01361.hp2 HG01993.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053a0002c0002t0001g0072a0002c0002t0001g0076others(9): Show | 12 | 308 | 0.0390 | -20 | c.151 others(37): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714664 | TATATAGA others(13): Show |
T | intron_variant | MODIFIER | HG01517.hp2 HG01975.hp1 HG02071.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0051a0002c0002t0001g0080a0002c0002t0001g0083others(7): Show | 10 | 308 | 0.0325 | -20 | c.151 others(37): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714666 | TATAGAGA others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp2 NA20905.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0125a0002c0002t0001g0129 | 2 | 308 | 0.0065 | -20 | c.151 others(37): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714668 | TAGAGAGA others(13): Show |
T | intron_variant | MODIFIER | NA19056.hp1 NA19060.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111a0002c0002t0001g0165 | 2 | 308 | 0.0065 | -20 | c.151 others(37): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFI_chr4_109735695_109806999 | 109756888 | GGAAAGAA others(13): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(32): Show |
a0001a0008a0009 | a0001c0001a0001c0002a0008c0012others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0156a0001c0001t0001g0232others(32): Show | 35 | 354 | 0.0989 | -20 | c.904 others(35): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117612006 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0023 | a0002c0023t0006 | a0002c0023t0006g0173 | 1 | 202 | 0.0050 | -20 | c.336 others(37): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117645521 | CCAAGCCC others(13): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0010 | 1 | 202 | 0.0050 | -20 | c.387 others(39): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57374538 | TTGTGTGT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02965.hp2 HG03130.hp1 HG03209.hp1 others(3): Show |
a0002a0005a0006others(2): Show | a0002c0002a0005c0006a0006c0007others(2): Show | a0002c0002t0008a0005c0006t0036a0006c0007t0005others(2): Show | a0002c0002t0008g0023a0002c0002t0008g0030a0005c0006t0036g0026others(3): Show | 6 | 294 | 0.0204 | -20 | c.-20 others(31): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1966 | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57378363 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01070.hp2 others(19): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0015others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0005t0002others(12): Show | a0001c0001t0002g0032a0001c0001t0002g0033a0001c0001t0004g0021others(19): Show | 22 | 294 | 0.0748 | -20 | c.-16 others(37): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57464670 | TTTTCCTT others(13): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03209.hp1 HG03453.hp1 others(2): Show |
a0001a0002a0011others(1): Show | a0001c0001a0002c0002a0011c0012others(1): Show | a0001c0001t0001a0002c0002t0013a0002c0002t0037others(2): Show | a0001c0001t0001g0165a0002c0002t0013g0134a0002c0002t0037g0161others(2): Show | 5 | 294 | 0.0170 | -20 | c.240 others(39): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57513276 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 294 | 0.0034 | -20 | c.240 others(39): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGRRF1_chr14_54504906_54544292 | 54513566 | TTTATGTT others(13): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0017others(35): Show | 57 | 338 | 0.1686 | -20 | c.104 others(37): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CHADL_chr22_41224513_41245931 | 41242143 | CATATATA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 NA18983.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 414 | 0.0073 | -20 | c.-12 others(31): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 1213 | chr22 | TogoVar | ||||||
CHAT_chr10_49609037_49672942 | 49647740 | TTTCCTTC others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(135): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0050others(123): Show | 138 | 418 | 0.3301 | -20 | c.128 others(37): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHCHD10_chr22_23760834_23772972 | 23761459 | GGGAGGGG others(13): Show |
G | downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 431 | 0.0023 | -20 | c.*45 others(31): Show |
CHCHD10 | ENSG00000250479.9 | transcript | ENST00000484558.3 | protein_coding | 4374 | chr22 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132799007 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG02056.hp2 HG02080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177a0001c0001t0001g0187 | 2 | 310 | 0.0065 | -20 | c.525 others(37): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132882461 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01070.hp1 others(55): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(55): Show | 58 | 310 | 0.1871 | -20 | c.453 others(37): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126763289 | TCCCTTTT others(13): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(22): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035a0002c0002t0001g0053a0002c0002t0001g0054others(22): Show | 25 | 216 | 0.1157 | -20 | c.411 others(39): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147298946 | CTTGTCCT others(13): Show |
C | downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 418 | 0.0024 | -20 | c.*34 others(31): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 3185 | chr1 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883826 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0073 | 1 | 334 | 0.0030 | -20 | c.256 others(37): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883843 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG01168.hp1 NA18946.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0105a0002c0002t0002g0126 | 2 | 334 | 0.0060 | -20 | c.256 others(37): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6607668 | CCCAACAC others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG03486.hp1 NA18992.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0003 | a0001c0002t0001g0240a0001c0002t0002g0041a0001c0003t0003g0100 | 3 | 374 | 0.0080 | -20 | c.-46 others(29): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 290 | chr12 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6607671 | AACACACA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01243.hp1 HG03834.hp1 others(12): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0005 | a0001c0003t0003g0010a0001c0003t0003g0085a0001c0003t0003g0086others(10): Show | 15 | 374 | 0.0401 | -20 | c.-47 others(29): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 293 | chr12 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41419554 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 324 | 0.0031 | -20 | c.612 others(37): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41498799 | ATGTATGT others(13): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 324 | 0.0031 | -20 | c.915 others(35): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41498803 | ATGTATGT others(13): Show |
A | intron_variant | MODIFIER | HG02004.hp1 HG02273.hp1 NA18945.hp1 others(6): Show |
a0001a0002a0007 | a0001c0002a0002c0004a0007c0012 | a0001c0002t0001a0002c0004t0004a0007c0012t0004 | a0001c0002t0001g0157a0002c0004t0004g0311a0002c0004t0004g0312others(6): Show | 9 | 324 | 0.0278 | -20 | c.915 others(35): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60679623 | GCGGCGGC others(13): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0147 | 1 | 236 | 0.0042 | -20 | c.-17 others(37): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60704498 | GAGAGCTT others(13): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
a0001 | a0001c0002a0001c0032 | a0001c0002t0006a0001c0032t0028 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | 236 | 0.0127 | -20 | c.-17 others(41): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60823394 | TATAGATA others(13): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0192 | 1 | 236 | 0.0042 | -20 | c.320 others(37): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD8_chr14_21380199_21461123 | 21442665 | AGAGGGGA others(13): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0167a0001c0001t0002g0039a0001c0001t0002g0040others(1): Show | 4 | 260 | 0.0154 | -20 | c.-21 others(41): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21442738 | CGGGAGGA others(13): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01891.hp2 HG02451.hp2 others(9): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0003t0002a0002c0002t0001others(1): Show | a0001c0001t0003g0163a0001c0001t0003g0234a0001c0003t0002g0035others(9): Show | 12 | 260 | 0.0462 | -20 | c.-21 others(41): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21454162 | AAAAAGAA others(13): Show |
A | intron_variant | MODIFIER | HG01517.hp1 HG01891.hp1 HG02055.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0236a0001c0001t0001g0237a0001c0001t0001g0238others(9): Show | 12 | 260 | 0.0462 | -20 | c.-21 others(39): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21457628 | CAAAAAAA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp2 HG03041.hp2 HG03195.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0001a0001c0006t0001g0126 | 3 | 260 | 0.0115 | -20 | c.-18 others(31): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1506 | chr14 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53049322 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00438.hp2 NA18943.hp2 NA18955.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0003a0002c0002t0005others(1): Show | a0001c0001t0005g0189a0002c0002t0003g0008a0002c0002t0005g0022others(2): Show | 13 | 406 | 0.0320 | -20 | c.-18 others(39): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53082200 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0175a0002c0002t0001g0106 | 2 | 238 | 0.0084 | -20 | c.-16 others(41): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53143358 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171a0001c0001t0002g0175 | 2 | 238 | 0.0084 | -20 | c.-16 others(41): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53171841 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(46): Show |
a0002a0004a0007 | a0002c0002a0004c0006a0007c0010 | a0002c0002t0001a0002c0002t0008a0002c0002t0014others(2): Show | a0002c0002t0001g0009a0002c0002t0001g0010a0002c0002t0001g0012others(46): Show | 49 | 238 | 0.2059 | -20 | c.145 others(41): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |