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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRTAP16-1_chr17_41302700_41314309 | 41307321 | GGACAGTT others(15): Show |
G | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 421 | 0.0024 | -22 | c.*35 others(31): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 378 | chr17 | TogoVar | ||||||
KRTAP21-3_chr21_30713525_30723777 | 30720307 | AGCATTTT others(15): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(116): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 119 | 408 | 0.2917 | -22 | c.-15 others(33): Show |
KRTAP21-3 | ENSG00000231068.1 | transcript | ENST00000444335.1 | protein_coding | 1531 | chr21 | TogoVar | ||||||
KRTAP25-1_chr21_30284145_30294514 | 30293691 | CAAATTTT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG02135.hp1 NA18961.hp2 NA18970.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 4 | 452 | 0.0089 | -22 | c.-42 others(33): Show |
KRTAP25-1 | ENSG00000232263.1 | transcript | ENST00000416044.1 | protein_coding | 4178 | chr21 | TogoVar | ||||||
KRTAP3-3_chr17_40988430_40999164 | 40988464 | ACACACAC others(15): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 11 | 471 | 0.0234 | -22 | c.*53 others(33): Show |
KRTAP3-3 | ENSG00000212899.3 | transcript | ENST00000391586.3 | protein_coding | 4965 | chr17 | TogoVar | ||||||
KRTAP4-4_chr17_41154649_41165748 | 41161753 | TATGTATG others(15): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02622.hp1 others(7): Show |
a0004a0008 | a0004c0004a0008c0009 | a0004c0004t0002a0008c0009t0002a0008c0009t0005 | a0004c0004t0002g0000a0008c0009t0002g0000a0008c0009t0005g0000 | 10 | 420 | 0.0238 | -22 | c.-10 others(33): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1006 | chr17 | TogoVar | ||||||
KRTAP5-5_chr11_1624775_1635930 | 1628371 | ACTGGATG others(15): Show |
A | upstream_gene_variant | MODIFIER | HG02647.hp1 HG02647.hp2 NA19079.hp1 |
a0002a0008a0018 | a0002c0002a0008c0011a0018c0026 | a0002c0002t0002a0008c0011t0005a0018c0026t0001 | a0002c0002t0002g0000a0008c0011t0005g0000a0018c0026t0001g0000 | 3 | 445 | 0.0067 | -22 | c.-14 others(33): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1403 | chr11 | TogoVar | ||||||
KRTAP5-5_chr11_1624775_1635930 | 1628427 | TGTATCAG others(15): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00609.hp2 others(46): Show |
a0003a0025 | a0003c0003a0025c0018 | a0003c0003t0003a0025c0018t0003 | a0003c0003t0003g0000a0025c0018t0003g0000 | 49 | 445 | 0.1101 | -22 | c.-14 others(33): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1347 | chr11 | TogoVar | ||||||
KRTAP5-5_chr11_1624775_1635930 | 1628449 | CGTATCAG others(15): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(213): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0007a0001c0030others(15): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(20): Show | a0001c0001t0001g0000a0001c0001t0006g0000a0001c0001t0007g0000others(20): Show | 216 | 445 | 0.4854 | -22 | c.-13 others(33): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1325 | chr11 | TogoVar | ||||||
KRTCAP2_chr1_155164408_155178304 | 155176829 | TCCCATCT others(15): Show |
T | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | -22 | c.-36 others(33): Show |
KRTCAP2 | ENSG00000163463.13 | transcript | ENST00000295682.6 | protein_coding | 3526 | chr1 | TogoVar | ||||||
KRTCAP3_chr2_27437381_27449297 | 27439995 | CTTTTTTT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 286 | 0.0035 | -22 | c.-24 others(33): Show |
KRTCAP3 | ENSG00000157992.12 | transcript | ENST00000288873.7 | protein_coding | 2385 | chr2 | TogoVar | ||||||
KSR1_chr17_27451448_27631435 | 27526024 | TTTCTTTT others(15): Show |
T | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 246 | 0.0041 | -22 | c.232 others(41): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KSR2_chr12_117448012_117973990 | 117645868 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | NA18959.hp1 NA18973.hp1 |
a0001 | a0001c0002 | a0001c0002t0038a0001c0002t0132 | a0001c0002t0038g0021a0001c0002t0132g0095 | 2 | 196 | 0.0102 | -22 | c.117 others(43): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117692449 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp2 HG02630.hp2 |
a0001 | a0001c0003a0001c0014 | a0001c0003t0005a0001c0003t0141a0001c0014t0072 | a0001c0003t0005g0145a0001c0003t0141g0181a0001c0014t0072g0064 | 3 | 196 | 0.0153 | -22 | c.987 others(41): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117713469 | CAACAAAT others(15): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0018a0001c0001t0144a0001c0003t0060others(2): Show | a0001c0001t0018g0147a0001c0001t0144g0189a0001c0003t0060g0045others(2): Show | 5 | 196 | 0.0255 | -22 | c.987 others(41): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117867953 | CTTATAAA others(15): Show |
C | intron_variant | MODIFIER | NA19081.hp1 | a0003 | a0003c0018 | a0003c0018t0049 | a0003c0018t0049g0037 | 1 | 196 | 0.0051 | -22 | c.181 others(39): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117947187 | AAAAGAAA others(15): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0109 | a0001c0003t0109g0133 | 1 | 196 | 0.0051 | -22 | c.180 others(41): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128865308 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 326 | 0.0031 | -22 | c.-7+ others(39): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205373 | TTCTCTCT others(15): Show |
T | intron_variant | MODIFIER | HG03453.hp2 NA20905.hp1 |
a0003a0008 | a0003c0003a0008c0020 | a0003c0003t0004a0008c0020t0027 | a0003c0003t0004g0089a0008c0020t0027g0042 | 2 | 414 | 0.0048 | -22 | c.-11 others(41): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
L3HYPDH_chr14_59467606_59489408 | 59483914 | TATTGACG others(15): Show |
T | frameshift_variant | HIGH | HG02897.hp1 | a0007 | a0007c0012 | a0007c0012t0003 | a0007c0012t0003g0038 | 1 | 354 | 0.0028 | -22 | c.381 others(29): Show |
p.Thr others(5): Show |
L3HYPDH | ENSG00000126790.12 | transcript | ENST00000247194.9 | protein_coding | 1/5 | 494/1516 | 381/1065 | 127/354 | chr14 | TogoVar | ||
L3MBTL2_chr22_41200312_41236271 | 41204790 | AACACACA others(15): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02965.hp2 HG02976.hp2 others(1): Show |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0002a0004c0007t0006 | a0001c0002t0002g0125a0004c0007t0006g0034a0004c0007t0006g0126 | 4 | 370 | 0.0108 | -22 | c.-57 others(31): Show |
L3MBTL2 | ENSG00000100395.15 | transcript | ENST00000216237.10 | protein_coding | 521 | chr22 | TogoVar | ||||||
L3MBTL3_chr6_130013581_130146438 | 130055643 | CCTCTCTC others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(117): Show |
a0001a0002a0004others(1): Show | a0001c0003a0002c0001a0004c0009others(1): Show | a0001c0003t0001a0002c0001t0001a0002c0001t0008others(5): Show | a0001c0003t0001g0186a0002c0001t0001g0003a0002c0001t0001g0004others(116): Show | 120 | 298 | 0.4027 | -22 | c.667 others(37): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LACTB2_chr8_70632266_70674185 | 70673028 | GATTGTTT others(15): Show |
G | upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 352 | 0.0028 | -22 | c.-39 others(33): Show |
LACTB2 | ENSG00000147592.9 | transcript | ENST00000276590.5 | protein_coding | 3844 | chr8 | TogoVar | ||||||
LAIR1_chr19_54346384_54369931 | 54358389 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02895.hp1 others(7): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0006a0005c0008others(1): Show | a0001c0001t0012a0004c0006t0019a0005c0008t0019others(4): Show | a0001c0001t0012g0044a0001c0001t0012g0191a0004c0006t0019g0129others(5): Show | 10 | 462 | 0.0217 | -22 | c.416 others(39): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 4/9 | chr19 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 128879459 | ATATATAT others(15): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02572.hp2 |
a0004a0005a0008 | a0004c0044a0005c0009a0008c0016 | a0004c0044t0003a0005c0009t0001a0008c0016t0002 | a0004c0044t0003g0020a0005c0009t0001g0019a0008c0016t0002g0023 | 3 | 88 | 0.0341 | -22 | c.-37 others(33): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3678 | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 128961318 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG02818.hp1 others(4): Show |
a0001a0003a0006others(4): Show | a0001c0067a0003c0002a0006c0007others(4): Show | a0001c0067t0001a0003c0002t0001a0006c0007t0002others(4): Show | a0001c0067t0001g0073a0003c0002t0001g0065a0006c0007t0002g0009others(4): Show | 7 | 88 | 0.0796 | -22 | c.112 others(41): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129205489 | TATATACA others(15): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02698.hp1 others(5): Show |
a0002a0003a0005others(3): Show | a0002c0026a0003c0031a0003c0059others(5): Show | a0002c0026t0002a0003c0031t0002a0003c0059t0002others(5): Show | a0002c0026t0002g0016a0003c0031t0002g0005a0003c0059t0002g0078others(5): Show | 8 | 88 | 0.0909 | -22 | c.178 others(43): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129205491 | TATACACA others(15): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02647.hp2 others(2): Show |
a0002a0004a0008others(2): Show | a0002c0029a0004c0044a0008c0034others(2): Show | a0002c0029t0002a0004c0044t0003a0008c0034t0002others(2): Show | a0002c0029t0002g0064a0004c0044t0003g0020a0008c0034t0002g0036others(2): Show | 5 | 88 | 0.0568 | -22 | c.178 others(43): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129251058 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | NA19060.hp2 NA19084.hp1 |
a0001a0005 | a0001c0049a0005c0050 | a0001c0049t0001a0005c0050t0001 | a0001c0049t0001g0042a0005c0050t0001g0060 | 2 | 88 | 0.0227 | -22 | c.188 others(39): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 13/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129251060 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp2 NA18979.hp2 |
a0001a0004 | a0001c0011a0004c0048 | a0001c0011t0001a0004c0048t0003 | a0001c0011t0001g0040a0004c0048t0003g0013 | 2 | 88 | 0.0227 | -22 | c.188 others(39): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 13/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129520373 | TAAAAAAA others(15): Show |
T | downstream_gene_variant | MODIFIER | HG03710.hp1 | a0013 | a0013c0069 | a0013c0069t0004 | a0013c0069t0004g0068 | 1 | 88 | 0.0114 | -22 | c.*40 others(33): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3808 | chr6 | TogoVar | ||||||
LAMA3_chr18_23684453_23960066 | 23695796 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0122 | 1 | 280 | 0.0036 | -22 | c.294 others(39): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 1/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LAMA3_chr18_23684453_23960066 | 23884047 | GGTGTGTG others(15): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00642.hp1 others(71): Show |
a0001a0004a0005others(7): Show | a0001c0002a0001c0054a0004c0007others(11): Show | a0001c0002t0001a0001c0054t0001a0004c0007t0001others(12): Show | a0001c0002t0001g0002a0001c0002t0001g0034a0001c0002t0001g0035others(71): Show | 74 | 280 | 0.2643 | -22 | c.522 others(39): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 40/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LAMA3_chr18_23868020_23960066 | 23884047 | GGTGTGTG others(15): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00609.hp1 others(89): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0007a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0006a0001c0007t0001others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0012others(79): Show | 92 | 334 | 0.2755 | -22 | c.396 others(37): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000269217.11 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LAMA4_chr6_112102931_112259567 | 112241140 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | NA18946.hp2 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0217 | 1 | 314 | 0.0032 | -22 | c.195 others(41): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 2/38 | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62323234 | GGGGCCTG others(15): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00597.hp2 others(31): Show |
a0000a0002a0012others(16): Show | a0000c0113a0000c0120a0002c0003others(22): Show | a0000c0113t0001a0000c0120t0001a0002c0003t0001others(22): Show | a0000c0113t0001g0078a0000c0120t0001g0077a0002c0003t0001g0090others(31): Show | 34 | 186 | 0.1828 | -22 | c.606 others(39): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 45/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62323259 | GCCTGATC others(15): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG02976.hp2 |
a0013a0030 | a0013c0126a0013c0135a0030c0127 | a0013c0126t0001a0013c0135t0001a0030c0127t0001 | a0013c0126t0001g0065a0013c0135t0001g0064a0030c0127t0001g0066 | 3 | 186 | 0.0161 | -22 | c.606 others(39): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 45/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62331179 | AGGGGGTG others(15): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01358.hp2 HG02451.hp1 others(5): Show |
a0027a0060a0086others(4): Show | a0027c0026a0027c0027a0060c0071others(5): Show | a0027c0026t0001a0027c0027t0001a0060c0071t0001others(5): Show | a0027c0026t0001g0003a0027c0027t0001g0002a0060c0071t0001g0042others(5): Show | 8 | 186 | 0.0430 | -22 | c.355 others(37): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 28/79 | chr20 | TogoVar | ||||||
LAMB1_chr7_107918799_108008161 | 107977014 | TCTCCTTC others(15): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02896.hp2 |
a0001a0028 | a0001c0035a0028c0034 | a0001c0035t0001a0028c0034t0001 | a0001c0035t0001g0037a0028c0034t0001g0031 | 2 | 364 | 0.0055 | -22 | c.100 others(41): Show |
LAMB1 | ENSG00000091136.15 | transcript | ENST00000222399.11 | protein_coding | 9/33 | chr7 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183079232 | GTTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02809.hp2 others(4): Show |
a0001a0002 | a0001c0005a0002c0001 | a0001c0005t0004a0002c0001t0001 | a0001c0005t0004g0102a0001c0005t0004g0103a0001c0005t0004g0104others(4): Show | 7 | 308 | 0.0227 | -22 | c.419 others(41): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LAMC3_chr9_131004174_131099473 | 131032535 | TCTCTCTC others(15): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG03098.hp2 NA18522.hp2 |
a0029a0080 | a0029c0037a0080c0074 | a0029c0037t0001a0080c0074t0002 | a0029c0037t0001g0006a0029c0037t0001g0013a0080c0074t0002g0011 | 3 | 360 | 0.0083 | -22 | c.809 others(37): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LAMC3_chr9_131004174_131099473 | 131077676 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0050 | a0050c0128 | a0050c0128t0024 | a0050c0128t0024g0065 | 1 | 360 | 0.0028 | -22 | c.377 others(39): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LAMP1_chr13_113292239_113328672 | 113301638 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0071 | 1 | 354 | 0.0028 | -22 | c.61+ others(37): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
LAMP1_chr13_113292239_113328672 | 113301640 | AAAAAATA others(15): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG04199.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0172a0001c0001t0001g0280a0001c0001t0033g0171 | 3 | 354 | 0.0085 | -22 | c.61+ others(37): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
LAMP1_chr13_113292239_113328672 | 113301642 | AAAATATA others(15): Show |
A | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 354 | 0.0028 | -22 | c.61+ others(37): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
LAMP3_chr3_183117215_183167734 | 183149560 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 372 | 0.0027 | -22 | c.888 others(39): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
LAMP3_chr3_183117215_183167734 | 183149562 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0271a0001c0001t0005g0273 | 2 | 372 | 0.0054 | -22 | c.888 others(39): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
LAMP3_chr3_183117215_183167734 | 183149566 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02486.hp1 HG02809.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0163a0002c0002t0001g0164a0002c0002t0001g0165others(1): Show | 4 | 372 | 0.0108 | -22 | c.888 others(39): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
LAMP3_chr3_183117215_183167734 | 183149568 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0166 | 1 | 372 | 0.0027 | -22 | c.888 others(39): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
LAMP5_chr20_9509590_9535524 | 9526860 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG02071.hp1 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0291a0002c0002t0002g0328a0002c0002t0002g0342 | 3 | 448 | 0.0067 | -22 | c.665 others(39): Show |
LAMP5 | ENSG00000125869.10 | transcript | ENST00000246070.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LANCL1_chr2_210426251_210481759 | 210454219 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(55): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009others(40): Show | 58 | 358 | 0.1620 | -22 | c.407 others(37): Show |
LANCL1 | ENSG00000115365.13 | transcript | ENST00000450366.7 | protein_coding | 4/9 | chr2 | TogoVar |