Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KLHDC4_chr16_87702812_87770986	87718338	T T	TCCCCCTC others(42): Show TCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0377 a0008c0017t0001g0377	1	378	0.0026	49	c.760 others(66): Show c.760-3766_760-3765insGAGGGAGGGGGAGGGGGAGGGAGGGGGA GGGGGAGGGAGGGGGAGGGGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87726321	G G	GCCGCGCC others(42): Show GCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGCCCGTCTCCCCACCC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0320 a0003c0003t0001g0320	1	285	0.0035	49	c.759 others(64): Show c.759+443_759+444insGGGTGGGGAGACGGGCGAGGCGCGGGGTGG GGAGACGGGCGAGGCGCGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87726434	T T	TCCCCACC others(42): Show TCCCCACCCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0378 a0003c0003t0007g0378	1	377	0.0027	49	c.759 others(64): Show c.759+330_759+331insGAGACGGGCGAGGCGCGGCGTGGGGAGACG GGCGAGGCGCGGGGTGGGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87726633	G G	GCCGCGCC others(42): Show GCCGCGCCTCGCCCGTCTCCCCACCCCCGCGCCTCGCCCGTCTCCCCACC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	261	0.0038	49	c.759 others(64): Show c.759+131_759+132insGGTGGGGAGACGGGCGAGGCGCGGGGGTGG GGAGACGGGCGAGGCGCGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
KLHL41_chr2_169504702_169531258	169505934	A A	ACCCCGTC others(42): Show ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03225.hp1 NA20129.hp2 HG03209.hp1 HG03225.hp1 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0038 a0003c0005t0001g0108 a0003c0005t0001g0038 a0003c0005t0001g0108	3	420	0.0071	49	c.-38 others(60): Show c.-3845_-3844insCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCG	KLHL41	ENSG00000239474.7	transcript	ENST00000284669.2	protein_coding		3767		chr2	TogoVar
KLHL41_chr2_169504702_169531258	169506118	A A	AGGAGGGA others(42): Show AGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03225.hp1 NA20129.hp2 HG03209.hp1 HG03225.hp1 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0038 a0003c0005t0001g0108 a0003c0005t0001g0038 a0003c0005t0001g0108	3	420	0.0071	49	c.-36 others(60): Show c.-3661_-3660insGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCG	KLHL41	ENSG00000239474.7	transcript	ENST00000284669.2	protein_coding		3583		chr2	TogoVar
KLRC1_chr12_10441028_10458377	10443913	T T	TGAAGAAT others(42): Show TGAAGAATATTTCCAGCTTCATAGAAAATGTTCTAACTACAGTTTACCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	438	0.0023	49	c.25 others(60): Show c.2589_*2637dupTAGGTAAACTGTAGTTAGAACATTTTCTATGAAG CTGGAAATATTCTTC	KLRC1	ENSG00000134545.14	transcript	ENST00000359151.8	protein_coding		2114		chr12	TogoVar
KMT2C_chr7_152129925_152441003	152141712	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0004 a0003c0009t0004	a0003c0009t0004g0108 a0003c0009t0004g0108	1	101	0.0099	49	c.143 others(70): Show c.14344-1922_14344-1921insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	55/58			chr7	TogoVar
KRT40_chr17_40972715_40989326	40974710	C C	CTTTCTTC others(42): Show CTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0006 a0006c0006t0002g0006	1	355	0.0028	49	c.34 others(60): Show c.3486_*3487insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAGAAA	KRT40	ENSG00000204889.11	transcript	ENST00000377755.9	protein_coding		3004		chr17	TogoVar
KRT8_chr12_52892191_52910076	52894981	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03704.hp1 others(2): Show HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0022 a0001c0001t0002g0001 a0001c0001t0002g0022	5	355	0.0141	49	c.24 others(60): Show c.2446_*2447insCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2209		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894982	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0017 a0003c0006t0001g0017	1	375	0.0027	49	c.24 others(60): Show c.2445_*2446insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2208		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894985	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	334	0.0030	49	c.24 others(60): Show c.2442_*2443insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2205		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894986	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	363	0.0028	49	c.24 others(60): Show c.2441_*2442insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2204		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894989	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02818.hp2 others(1): Show HG02055.hp1 HG02559.hp2 HG02818.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0010 a0001c0002t0001g0012 a0001c0001t0006g0010 a0001c0002t0001g0012	4	323	0.0124	49	c.24 others(60): Show c.2438_*2439insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2201		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894990	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0017 a0003c0006t0001g0017	1	369	0.0027	49	c.24 others(60): Show c.2437_*2438insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2200		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894993	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	359	0.0028	49	c.24 others(60): Show c.2434_*2435insCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2197		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894993	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	359	0.0028	49	c.24 others(60): Show c.2434_*2435insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2197		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894994	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	382	0.0026	49	c.24 others(60): Show c.2433_*2434insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2196		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894997	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0023 a0005c0007t0002g0023	1	357	0.0028	49	c.24 others(60): Show c.2430_*2431insCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2193		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894997	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	357	0.0028	49	c.24 others(60): Show c.2430_*2431insCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2193		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894997	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	357	0.0028	49	c.24 others(60): Show c.2430_*2431insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCT TTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2193		chr12	TogoVar
KRT8_chr12_52892191_52910076	52895002	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02165.hp2 HG01070.hp2 HG01071.hp1 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0004 a0001c0002t0001g0006	3	381	0.0079	49	c.24 others(60): Show c.2425_*2426insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2188		chr12	TogoVar
KRTAP2-1_chr17_41041541_41052316	41051410	A A	AATATATT others(42): Show AATATATTATATACAGTAAAATATATATAATATATTATATATAGTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	325	0.0031	49	c.-41 others(60): Show c.-4144_-4143insATTTTACTATATATAATATATTATATATATTTTA CTGTATATAATATAT	KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding		4095		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41051410	A A	AATATATT others(42): Show AATATATTATATACAGTAAAATATATATAATATATTATATATAGTAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	324	0.0031	49	c.34 others(60): Show c.3429_*3430insATTTTACTATATATAATATATTATATATATTTTA CTGTATATAATATAT	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding		3087		chr17	TogoVar
KRTAP4-9_chr17_41100389_41111488	41110054	C C	CAAGAAAG others(42): Show CAAGAAAGAAAGAAAGCAAGCAAGAAAGAAAGAAAGAAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG01257.hp2 others(6): Show HG00741.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01891.hp1 HG03209.hp1 NA18963.hp2 NA18968.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	9	138	0.0652	49	c.40 others(60): Show c.4033_*4034insAAGAAAGAAAGAAAGCAAGCAAGAAAGAAAGAAA GAAAAGAAAGAAAGA	KRTAP4-9	ENSG00000212722.9	transcript	ENST00000391415.2	protein_coding		3567		chr17	TogoVar
KRTAP4-9_chr17_41100389_41111488	41110054	C C	CAAGAAAG others(42): Show CAAGAAAGAAAGAAAGCAAGCAAGCAAGAAAGAAAGAAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG04184.hp2 HG02257.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	131	0.0153	49	c.40 others(60): Show c.4033_*4034insAAGAAAGAAAGAAAGCAAGCAAGCAAGAAAGAAA GAAAAGAAAGAAAGA	KRTAP4-9	ENSG00000212722.9	transcript	ENST00000391415.2	protein_coding		3567		chr17	TogoVar
KRTAP4-9_chr17_41100389_41111488	41110054	C C	CAAGCAAG others(42): Show CAAGCAAGAAAGAAAGCAAGCAAGAAAGAAAGAAAGAAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA20905.hp1 NA19074.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	131	0.0153	49	c.40 others(60): Show c.4033_*4034insAAGCAAGAAAGAAAGCAAGCAAGAAAGAAAGAAA GAAAAGAAAGAAAGA	KRTAP4-9	ENSG00000212722.9	transcript	ENST00000391415.2	protein_coding		3567		chr17	TogoVar
KSR2_chr12_117448012_117973990	117947196	A A	AAAGAAAG others(42): Show AAAGAAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0068	a0001c0002t0068g0063 a0001c0002t0068g0063	1	113	0.0088	49	c.180 others(68): Show c.180+20879_180+20880insCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTCTCTCTCTCTCTCTTTCTT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19			chr12	TogoVar
LACC1_chr13_43874904_43898932	43879768	G G	GTGAGGCG others(42): Show GTGAGGCGGGGCGAGGTGGGCGAGGTGGGCGAGGTGAGGCGGGGCGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	378	0.0026	49	c.-38 others(58): Show c.-386_-385insTGAGGCGGGGCGAGGTGGGCGAGGTGGGCGAGGTGA GGCGGGGCGAGGC	LACC1	ENSG00000179630.11	transcript	ENST00000325686.7	protein_coding		135		chr13	TogoVar
LAMA1_chr18_6936742_7122797	7098703	A A	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCAGCCAGCCGCCCCG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01255.hp2 HG03942.hp2 HG00639.hp2 HG01255.hp2 HG03942.hp2	a0001 a0013 a0038 a0001 a0013 a0038	a0001c0002 a0013c0184 a0038c0200 a0001c0002 a0013c0184 a0038c0200	a0001c0002t0001 a0013c0184t0002 a0038c0200t0001 a0001c0002t0001 a0013c0184t0002 a0038c0200t0001	a0001c0002t0001g0215 a0013c0184t0002g0077 a0038c0200t0001g0251 a0001c0002t0001g0215 a0013c0184t0002g0077 a0038c0200t0001g0251	3	219	0.0137	49	c.62- others(66): Show c.62-18247_62-18246insCGGGGCGGCTGGCTGGGCGGGGGGCTGA CGCCCCCACCTCCCTCCCGGA	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	1/62			chr18	TogoVar
LAMA1_chr18_6936742_7122797	7098703	A A	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCAGCCAGCCGCCGCG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0074 a0074	a0074c0207 a0074c0207	a0074c0207t0002 a0074c0207t0002	a0074c0207t0002g0027 a0074c0207t0002g0027	1	217	0.0046	49	c.62- others(66): Show c.62-18247_62-18246insCGCGGCGGCTGGCTGGGCGGGGGGCTGA CGCCCCCACCTCCCTCCCGGA	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	1/62			chr18	TogoVar
LAMA2_chr6_128878138_129521566	129446519	G G	GGAGGGGA others(42): Show GGAGGGGAGGGGAGGGGAGGCGAGGGGAGGGAGGGGAGGGGAGGGGAGGC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0016 a0016	a0016c0064 a0016c0064	a0016c0064t0004 a0016c0064t0004	a0016c0064t0004g0073 a0016c0064t0004g0073	1	78	0.0128	49	c.642 others(66): Show c.6429+728_6429+729insAGGGGAGGGGAGGGGAGGCGAGGGGAGG GGAGGGGAGGCGAGGGGAGGG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	45/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA3_chr18_23684453_23960066	23929513	C C	CAGGAAGG others(42): Show CAGGAAGGCCGCCCCTCTCTTGGTGGCTGACTCTGTGGCTCTGTAATACT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0034 a0034	a0034c0029 a0034c0029	a0034c0029t0002 a0034c0029t0002	a0034c0029t0002g0186 a0034c0029t0002g0186	1	278	0.0036	49	c.843 others(66): Show c.8436+796_8436+844dupCTAGGAAGGCCGCCCCTCTCTTGGTGGC TGACTCTGTGGCTCTGTAATA	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding	64/74		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA3_chr18_23868020_23960066	23929513	C C	CAGGAAGG others(42): Show CAGGAAGGCCGCCCCTCTCTTGGTGGCTGACTCTGTGGCTCTGTAATACT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	332	0.0030	49	c.360 others(66): Show c.3609+796_3609+844dupCTAGGAAGGCCGCCCCTCTCTTGGTGGC TGACTCTGTGGCTCTGTAATA	LAMA3	ENSG00000053747.17	transcript	ENST00000269217.11	protein_coding	27/37		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA5_chr20_62304065_62372312	62332926	T T	TGCAGGAG others(42): Show TGCAGGAGGCAGGAGGCAGGAGGCAGGAGGCAGGAGGCAGGAGGCAGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01496.hp1 HG00140.hp2 HG01496.hp1	a0015 a0015	a0015c0051 a0015c0053 a0015c0051 a0015c0053	a0015c0051t0001 a0015c0053t0001 a0015c0051t0001 a0015c0053t0001	a0015c0051t0001g0060 a0015c0053t0001g0061 a0015c0051t0001g0060 a0015c0053t0001g0061	2	40	0.0500	49	c.328 others(66): Show c.3282+163_3282+164insCTCCTGCCTCCTGCCTCCTGCCTCCTGC CTCCTGCCTCCTGCCTCCTGC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	26/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360489	T T	TGGGTGGA others(42): Show TGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0152 a0006c0012t0001g0152	1	117	0.0085	49	c.450 others(66): Show c.450+1910_450+1911insCACCTATCCATCCACCCACCCACCCACC CACCCATCTATCCCTCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360546	G G	GGTGGGTA others(42): Show GGTGGGTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGATGGATAGGTGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18522.hp2 NA18906.hp1 HG01884.hp1 NA18522.hp2 NA18906.hp1	a0020 a0092 a0020 a0092	a0020c0017 a0092c0069 a0020c0017 a0092c0069	a0020c0017t0001 a0092c0069t0001 a0020c0017t0001 a0092c0069t0001	a0020c0017t0001g0027 a0020c0017t0001g0028 a0092c0069t0001g0068 a0020c0017t0001g0027 a0020c0017t0001g0028 a0092c0069t0001g0068	3	165	0.0182	49	c.450 others(66): Show c.450+1853_450+1854insTCCACCTATCCATCCACCCACCCACCCA CCTACCTATCCTTCTACCCAC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAP3_chr4_17572198_17612970	17580185	T T	TATATATA others(42): Show TATATATATATATATATATATATATATATATATATATATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0012 a0001c0003t0003g0012	1	255	0.0039	49	c.218 others(64): Show c.218+246_218+247insATATATATATATATATATATATATATATAT ATATATATATATGTATGTA	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12			chr4	TogoVar
LARP4_chr12_50395885_50485004	50446352	T T	TCTCTCTC others(42): Show TCTCTCTCTCTCTCTCTCTCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0154 a0003c0003t0001g0154	1	309	0.0032	49	c.804 others(66): Show c.804+4728_804+4729insCCCCCCCTTCCCCTCCCCCTCCCCCTCT CCCTCTCTCTCTCTCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446362	T T	TCTCTCCC others(42): Show TCTCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	295	0.0034	49	c.804 others(66): Show c.804+4724_804+4725insCCCCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTCTCCCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446362	T T	TCTCTCCC others(42): Show TCTCTCCCCCCCCCTCCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0199 a0004c0004t0001g0199	1	295	0.0034	49	c.804 others(66): Show c.804+4724_804+4725insCCCCCCCCTCCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTCTCCCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446366	T T	TCTCTCCC others(42): Show TCTCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	282	0.0035	49	c.804 others(66): Show c.804+4728_804+4729insCCCCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTCTCCCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446366	T T	TCTCTCTC others(42): Show TCTCTCTCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	282	0.0035	49	c.804 others(66): Show c.804+4730_804+4731insCCCCCCCCTCCCCCTCCCCCTCCCCCTT CCCCTCCCCCTCTCCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446368	T T	TCTCTCCC others(42): Show TCTCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	286	0.0035	49	c.804 others(66): Show c.804+4730_804+4731insCCCCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTCTCCCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446368	T T	TCTCTCTC others(42): Show TCTCTCTCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	286	0.0035	49	c.804 others(66): Show c.804+4732_804+4733insCCCCCCCTCCCCCTCCCCCTCCCCCTTC CCCTCCCCCTCTCCCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446380	T T	TCTCTCCC others(42): Show TCTCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	313	0.0032	49	c.804 others(66): Show c.804+4742_804+4743insCCCCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTCTCCCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LASP1NB_chr17_38920614_38934381	38930730	A A	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGAGCTGACCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02818.hp2 others(1): Show HG01884.hp1 HG02145.hp1 HG02818.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	152	0.0263	49	c.44 others(60): Show c.4434_*4435insCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGAG CTGACCCCCCACCTC	LASP1NB	ENSG00000263874.3	transcript	ENST00000583195.3	protein_coding		1350		chr17	TogoVar
LASP1NB_chr17_38920614_38934381	38930807	G G	GGGGGGGC others(42): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	419	0.0024	49	c.45 others(60): Show c.4511_*4512insGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGC	LASP1NB	ENSG00000263874.3	transcript	ENST00000583195.3	protein_coding		1427		chr17	TogoVar
LBP_chr20_38341482_38382013	38379153	C C	CGGCCAGC others(42): Show CGGCCAGCCACCCCGTCCCGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(104): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01169.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02451.hp1 HG02523.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG04228.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18987.hp2 NA18992.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp2 NA20905.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0007 a0011 a0014 a0017 a0019	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0002c0010 a0002c0012 a0005c0005 a0007c0011 a0011c0020 a0014c0036 a0017c0032 a0019c0033	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0010t0001 a0002c0012t0001 a0005c0005t0001 a0007c0011t0001 a0011c0020t0001 a0014c0036t0001 a0017c0032t0001 a0019c0033t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(88): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0161 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0002t0001g0265 a0001c0003t0001g0074 a0002c0010t0001g0246 a0002c0012t0001g0012 a0005c0005t0001g0025 a0005c0005t0001g0098 a0005c0005t0001g0099 a0005c0005t0001g0173 a0005c0005t0001g0185 a0005c0005t0001g0186 a0005c0005t0001g0187 a0005c0005t0001g0188 a0005c0005t0001g0189 a0005c0005t0001g0190 a0005c0005t0001g0191 a0005c0005t0001g0196 a0005c0005t0001g0197 a0005c0005t0001g0238 a0007c0011t0001g0314 a0011c0020t0001g0022 a0014c0036t0001g0059 a0017c0032t0001g0039 a0019c0033t0001g0321	107	195	0.5487	49	c.24 others(60): Show c.2484_*2485insGGCCAGCCACCCCGTCCCGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCA	LBP	ENSG00000129988.6	transcript	ENST00000217407.3	protein_coding		2141		chr20	TogoVar
LBP_chr20_38341482_38382013	38379153	C C	CGGCCAGC others(42): Show CGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03486.hp2 NA19240.hp1 HG02809.hp2 HG03486.hp2 NA19240.hp1	a0001 a0010 a0001 a0010	a0001c0014 a0010c0017 a0001c0014 a0010c0017	a0001c0014t0003 a0010c0017t0003 a0001c0014t0003 a0010c0017t0003	a0001c0014t0003g0084 a0010c0017t0003g0018 a0001c0014t0003g0084 a0010c0017t0003g0018	3	91	0.0330	49	c.24 others(60): Show c.2484_*2485insGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCA	LBP	ENSG00000129988.6	transcript	ENST00000217407.3	protein_coding		2141		chr20	TogoVar

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