Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MARCHF1_chr4_163519718_164389019	164141946	G G	ACAGGTCA others(11): Show ACAGGTCAGTGGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03579.hp1 HG02280.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0044 a0001c0001t0017g0039 a0001c0001t0001g0044 a0001c0001t0017g0039	2	102	0.0196	18	c.-32 others(39): Show c.-322-30284_-322-30283insGCCCACCCACTGACCTGT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164176970	C C	CCATATAT others(11): Show CCATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	102	0.0098	18	c.-32 others(39): Show c.-322-65309_-322-65308insTATATATATATATATATG	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164176980	C C	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0025 a0001c0001t0024g0025	1	102	0.0098	18	c.-32 others(39): Show c.-322-65319_-322-65318insTATATATATAGAGAGAGA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164199681	C C	CACACACA others(11): Show CACACACAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	102	0.0098	18	c.-32 others(39): Show c.-322-88020_-322-88019insCTCTCTCTCTCTGTGTGT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164258391	T T	TATAATAA others(11): Show TATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18522.hp1 NA19030.hp1 HG04115.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0021 a0001c0002t0003 a0001c0001t0006 a0001c0001t0021 a0001c0002t0003	a0001c0001t0006g0008 a0001c0001t0021g0028 a0001c0002t0003g0096 a0001c0001t0006g0008 a0001c0001t0021g0028 a0001c0002t0003g0096	3	102	0.0294	18	c.-32 others(41): Show c.-323+125461_-323+125478dupTATTATTATTATTATTAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164265490	A A	ACTGAGTA others(11): Show ACTGAGTAGCTGGGACCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00639.hp2 others(73): Show HG00438.hp1 HG00438.hp2 HG00639.hp2 HG00741.hp1 HG01109.hp1 HG01109.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18984.hp1 NA18984.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19066.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0015 a0001c0002t0027 a0001c0002t0028 a0001c0005t0011 a0001c0005t0016 a0001c0006t0001 a0001c0008t0012 a0001c0009t0012 a0002c0003t0001 a0002c0003t0005 a0002c0003t0008 a0002c0003t0010 a0002c0004t0003 a0002c0004t0029	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0017 others(73): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0004g0052 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0090 a0001c0001t0005g0022 a0001c0001t0005g0037 a0001c0001t0005g0074 a0001c0001t0006g0008 a0001c0001t0006g0053 a0001c0001t0006g0059 a0001c0001t0006g0072 a0001c0001t0006g0087 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0049 a0001c0001t0007g0051 a0001c0001t0008g0084 a0001c0001t0009g0034 a0001c0001t0009g0088 a0001c0001t0013g0015 a0001c0001t0013g0018 a0001c0001t0014g0066 a0001c0001t0017g0039 a0001c0001t0018g0079 a0001c0001t0020g0070 a0001c0001t0021g0028 a0001c0001t0022g0040 a0001c0001t0024g0025 a0001c0001t0025g0101 a0001c0002t0002g0020 a0001c0002t0002g0054 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0080 a0001c0002t0002g0097 a0001c0002t0003g0001 a0001c0002t0003g0016 a0001c0002t0003g0096 a0001c0002t0011g0013 a0001c0002t0015g0012 a0001c0002t0015g0050 a0001c0002t0027g0046 a0001c0002t0028g0099 a0001c0005t0011g0069 a0001c0005t0016g0048 a0001c0006t0001g0041 a0001c0008t0012g0026 a0001c0009t0012g0071 a0002c0003t0001g0005 a0002c0003t0001g0006 a0002c0003t0001g0055 a0002c0003t0005g0045 a0002c0003t0008g0014 a0002c0003t0008g0075 a0002c0003t0010g0058 a0002c0004t0003g0077 a0002c0004t0003g0081 a0002c0004t0003g0086 a0002c0004t0029g0047	76	102	0.7451	18	c.-32 others(41): Show c.-323+118379_-323+118380insGAGGTCCCAGCTACTCAG	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164274659	C C	CTTCTTTT others(11): Show CTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0012 a0001c0002t0015g0012	1	102	0.0098	18	c.-32 others(41): Show c.-323+109210_-323+109211insAAAAAAAAAAAAAAAGAA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164276934	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 NA19058.hp1 HG00438.hp1 HG00741.hp1 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0009 a0002c0003t0001 a0001c0001t0001 a0001c0001t0009 a0002c0003t0001	a0001c0001t0001g0064 a0001c0001t0009g0088 a0002c0003t0001g0005 a0001c0001t0001g0064 a0001c0001t0009g0088 a0002c0003t0001g0005	3	102	0.0294	18	c.-32 others(41): Show c.-323+106935_-323+106936insTATATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164276947	T T	TATATATA others(11): Show TATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp2 NA18984.hp1 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0003 a0001c0008 a0002c0003	a0001c0008t0012 a0002c0003t0008 a0001c0008t0012 a0002c0003t0008	a0001c0008t0012g0026 a0002c0003t0008g0075 a0001c0008t0012g0026 a0002c0003t0008g0075	2	102	0.0196	18	c.-32 others(41): Show c.-323+106922_-323+106923insCTATATATATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164313348	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	102	0.0098	18	c.-32 others(39): Show c.-323+70504_-323+70521dupTTTTTTTTTTTTTTTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164326957	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	102	0.0098	18	c.-32 others(39): Show c.-323+56895_-323+56912dupCACACACACACACACACA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTATATAC others(11): Show TTATATACATACATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	102	0.0098	18	c.-32 others(39): Show c.-323+43464_-323+43465insTATATATGTATGTATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	1	102	0.0098	18	c.-32 others(39): Show c.-323+43464_-323+43465insTATATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03486.hp1 HG00741.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0009 a0002c0004t0003 a0001c0001t0009 a0002c0004t0003	a0001c0001t0009g0088 a0002c0004t0003g0086 a0001c0001t0009g0088 a0002c0004t0003g0086	2	102	0.0196	18	c.-32 others(39): Show c.-323+43464_-323+43465insTATATATATATATATAAA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164356781	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18963.hp2 HG04115.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0007 a0001c0002t0003g0004 a0001c0001t0001g0007 a0001c0002t0003g0004	2	102	0.0196	18	c.-32 others(39): Show c.-323+27088_-323+27089insGCTTTTTTTTTTTTTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164363766	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0015 a0001c0001t0013g0015	1	102	0.0098	18	c.-32 others(39): Show c.-323+20086_-323+20103dupACACACACACACACACAC	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF2_chr19_8408305_8444017	8441431	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01069.hp2 others(7): Show HG00280.hp1 HG01069.hp1 HG01069.hp2 HG01099.hp2 HG01123.hp1 HG01192.hp1 HG01361.hp2 HG01515.hp2 HG01943.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0009 a0002c0002t0025 a0002c0002t0003 a0002c0002t0009 a0002c0002t0025	a0002c0002t0003g0025 a0002c0002t0003g0034 a0002c0002t0003g0056 others(7): Show a0002c0002t0003g0025 a0002c0002t0003g0034 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0074 a0002c0002t0009g0010 a0002c0002t0009g0011 a0002c0002t0009g0023 a0002c0002t0025g0138	10	392	0.0255	18	c.28 others(29): Show c.2885_*2886insTCTCTCTCTCTCTCTCTC	MARCHF2	ENSG00000099785.11	transcript	ENST00000215555.7	protein_coding		2415		chr19	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02055.hp2 HG02895.hp2 HG01346.hp2 HG02055.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0058 a0001c0001t0080 a0001c0001t0017 a0001c0001t0058 a0001c0001t0080	a0001c0001t0017g0208 a0001c0001t0058g0265 a0001c0001t0080g0183 a0001c0001t0017g0208 a0001c0001t0058g0265 a0001c0001t0080g0183	3	296	0.0101	18	c.37 others(29): Show c.3752_*3753insTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126877834	C C	CAAAGGAG others(11): Show CAAAGGAGGAGAAGGAGAG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	296	0.0034	18	c.603 others(33): Show c.603+350_603+351insCTCTCCTTCTCCTCCTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	4/4			chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126897045	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02647.hp2 HG02970.hp1 others(1): Show HG00639.hp1 HG02647.hp2 HG02970.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0053 a0001c0001t0054 others(1): Show a0001c0001t0029 a0001c0001t0053 a0001c0001t0054 a0001c0001t0060	a0001c0001t0029g0251 a0001c0001t0053g0250 a0001c0001t0054g0249 others(1): Show a0001c0001t0029g0251 a0001c0001t0053g0250 a0001c0001t0054g0249 a0001c0001t0060g0266	4	296	0.0135	18	c.393 others(37): Show c.393+17884_393+17885insAAAAAAAAAAAAAAAAAA	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	3/4			chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126914767	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA19078.hp2 HG01069.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0069 a0001c0001t0015 a0001c0001t0069	a0001c0001t0015g0022 a0001c0001t0069g0009 a0001c0001t0015g0022 a0001c0001t0069g0009	2	296	0.0068	18	c.393 others(33): Show c.393+145_393+162dupGTGTGTGTGTGTGTGTGT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	3/4			chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126914767	A A	AATACACA others(11): Show AATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0242 a0001c0001t0066g0242	1	296	0.0034	18	c.393 others(33): Show c.393+162_393+163insGTGTGTGTGTGTGTGTAT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	3/4			chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126916692	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	296	0.0034	18	c.188 others(35): Show c.188+1274_188+1291dupGTGTGTGTGTGTGTGTGT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	2/4			chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126946761	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0225 a0001c0001t0019g0225	1	296	0.0034	18	c.-56 others(37): Show c.-56-28552_-56-28535dupACACACACACACACACAC	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	1/4			chr5	TogoVar
MARCHF5_chr10_92286167_92358964	92289718	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 homoSapiens_chm13v2.hp1 HG01496.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0048 a0001c0001t0019g0053 a0001c0001t0006g0048 a0001c0001t0019g0053	2	306	0.0065	18	c.-17 others(29): Show c.-1777_-1776insAAAAAAAAAAAAAAAAAA	MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding		1448		chr10	TogoVar
MARCHF5_chr10_92286167_92358964	92289732	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02258.hp1 HG04184.hp1 HG01099.hp1 HG02258.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0036 a0001c0001t0004 a0001c0001t0006 a0001c0001t0036	a0001c0001t0004g0287 a0001c0001t0006g0058 a0001c0001t0036g0068 a0001c0001t0004g0287 a0001c0001t0006g0058 a0001c0001t0036g0068	3	306	0.0098	18	c.-17 others(29): Show c.-1763_-1762insAAAAAAAAAAAAAAAAAT	MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding		1434		chr10	TogoVar
MARCHF5_chr10_92286167_92358964	92289732	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0025 a0001c0001t0008g0025	1	306	0.0033	18	c.-17 others(29): Show c.-1763_-1762insAAAAAAAAAAAAAAATAT	MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding		1434		chr10	TogoVar
MARCHF5_chr10_92286167_92358964	92289732	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0017 a0001c0001t0008g0017	1	306	0.0033	18	c.-17 others(29): Show c.-1763_-1762insAAAAAAAAAAAAATATAT	MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding		1434		chr10	TogoVar
MARCHF5_chr10_92286167_92358964	92328821	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0006 a0001c0001t0015g0006	1	306	0.0033	18	c.239 others(37): Show c.239-11851_239-11850insATATATATATATATATTT	MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
MARCHF5_chr10_92286167_92358964	92351901	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0019 a0001c0001t0042g0019	1	306	0.0033	18	c.71 others(27): Show c.715_*732dupGTGTGTGTGTGTGTGTGT	MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding	6/6	733	INFO_REALIGN_3_PRIME	chr10	TogoVar
MARCHF6_chr5_10348695_10445388	10348841	T T	TCACACAC others(11): Show TCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03209.hp1 HG02970.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0047 a0001c0004t0162 a0001c0002t0047 a0001c0004t0162	a0001c0002t0047g0119 a0001c0004t0162g0158 a0001c0002t0047g0119 a0001c0004t0162g0158	2	284	0.0070	18	c.-50 others(29): Show c.-5058_-5057insCACACACACACACACACA	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding		4853		chr5	TogoVar
MARCHF6_chr5_10348695_10445388	10350865	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0109 a0001c0002t0036g0109	1	284	0.0035	18	c.-30 others(29): Show c.-3034_-3033insACACACACACACACACAC	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding		2829		chr5	TogoVar
MARCHF7_chr2_159707506_159776027	159743974	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0034 a0001c0004t0009g0034	1	364	0.0028	18	c.346 others(33): Show c.346+734_346+751dupTTTTTTTTTTTTTTTTTT	MARCHF7	ENSG00000136536.15	transcript	ENST00000409175.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARCHF7_chr2_159707506_159776027	159764255	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0044 a0002c0005t0003g0044	1	364	0.0028	18	c.200 others(35): Show c.2008-370_2008-369insTGTGTGTGTGCGCGCGCG	MARCHF7	ENSG00000136536.15	transcript	ENST00000409175.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARCHF7_chr2_159707506_159776027	159764255	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19005.hp1 NA19078.hp2 others(1): Show NA18973.hp1 NA19005.hp1 NA19078.hp2 NA19087.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0025 a0002c0005t0003 a0002c0005t0025	a0002c0005t0003g0058 a0002c0005t0003g0072 a0002c0005t0003g0073 others(1): Show a0002c0005t0003g0058 a0002c0005t0003g0072 a0002c0005t0003g0073 a0002c0005t0025g0051	4	364	0.0110	18	c.200 others(35): Show c.2008-370_2008-369insTGTGTGTGTGTGCGCGCG	MARCHF7	ENSG00000136536.15	transcript	ENST00000409175.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARCHF7_chr2_159707506_159776027	159776012	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0259 a0001c0014t0002g0259	1	364	0.0028	18	c.86 others(29): Show c.8670_*8671insTTTTTTTTTTTTTTTTTT	MARCHF7	ENSG00000136536.15	transcript	ENST00000409175.6	protein_coding		4986		chr2	TogoVar
MARF1_chr16_15589387_15648154	15591594	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0259 a0001c0002t0003g0259	1	393	0.0025	18	c.50 others(29): Show c.5081_*5098dupGTGTGTGTGTGTGTGTGT	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding		2792		chr16	TogoVar
MARK1_chr1_220523136_220669461	220586011	A A	ACACACAC others(11): Show ACACACACACACGCACGCG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02080.hp2 NA20805.hp2 HG01168.hp2 HG02080.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0277	3	298	0.0101	18	c.309 others(35): Show c.309+4894_309+4895insACACACACACGCACGCGC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK1_chr1_220523136_220669461	220586011	A A	ACACACAC others(11): Show ACACACACACGCACGCGCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	298	0.0034	18	c.309 others(35): Show c.309+4894_309+4895insACACACACGCACGCGCGC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK2_chr11_63834110_63916020	63851370	T T	TGGAGGAT others(11): Show TGGAGGATTGCTTGAGGCC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19064.hp1 NA18959.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0208 a0001c0001t0002g0212	2	232	0.0086	18	c.54+ others(35): Show c.54+11811_54+11828dupGGAGGATTGCTTGAGGCC	MARK2	ENSG00000072518.23	transcript	ENST00000402010.8	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
MARK2_chr11_63834110_63916020	63901419	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0103 a0001c0001t0021g0103	1	232	0.0043	18	c.110 others(35): Show c.1101+352_1101+353insTGTGTGTGTGTGTGTGTG	MARK2	ENSG00000072518.23	transcript	ENST00000402010.8	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
MARK2_chr11_63834110_63916020	63901422	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01123.hp1 HG01169.hp2 others(19): Show HG01069.hp2 HG01123.hp1 HG01169.hp2 HG01255.hp2 HG01361.hp2 HG02015.hp2 HG02257.hp2 HG02486.hp2 HG02723.hp1 HG03209.hp1 HG03453.hp1 NA18943.hp2 NA18957.hp2 NA18959.hp1 NA18995.hp1 NA19081.hp2 NA19084.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0018 a0001c0001t0020 a0001c0006t0026	a0001c0001t0001g0085 a0001c0001t0001g0128 a0001c0001t0001g0140 others(16): Show a0001c0001t0001g0085 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0221 a0001c0001t0003g0001 a0001c0001t0003g0170 a0001c0001t0003g0182 a0001c0001t0009g0083 a0001c0001t0009g0084 a0001c0001t0009g0086 a0001c0001t0018g0104 a0001c0001t0020g0139 a0001c0006t0026g0087	22	232	0.0948	18	c.110 others(35): Show c.1101+367_1101+368insGTGTGTGTGTGTGTGTGT	MARK2	ENSG00000072518.23	transcript	ENST00000402010.8	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
MARK3_chr14_103380415_103508831	103452471	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03225.hp2 NA18983.hp1 HG02080.hp2 HG03225.hp2 NA18983.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0002 a0009c0012t0001 a0001c0001t0002 a0009c0012t0001	a0001c0001t0002g0116 a0001c0001t0002g0165 a0009c0012t0001g0097 a0001c0001t0002g0116 a0001c0001t0002g0165 a0009c0012t0001g0097	3	348	0.0086	18	c.412 others(33): Show c.412+489_412+506dupTTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103460073	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	348	0.0029	18	c.484 others(35): Show c.484-2318_484-2301dupTTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03579.hp2 NA18947.hp2 others(2): Show HG02818.hp1 HG03579.hp2 NA18947.hp2 NA18992.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0056 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0056 a0001c0001t0001g0269 a0001c0001t0005g0095	5	348	0.0144	18	c.111 others(35): Show c.1111-353_1111-336dupAAAAAAAAAAAAAAAAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103470453	C C	CAATTTTT others(11): Show CAATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	348	0.0029	18	c.126 others(37): Show c.1264+2267_1264+2268insAATTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	12/17			chr14	TogoVar
MARK3_chr14_103380415_103508831	103470455	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00621.hp1 others(41): Show HG00408.hp2 HG00423.hp1 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp2 HG02027.hp2 HG02083.hp1 HG02135.hp2 HG02602.hp1 HG02735.hp2 HG02809.hp2 HG03490.hp1 HG03492.hp2 HG03704.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp1 NA18747.hp2 NA18944.hp1 NA18954.hp1 NA18960.hp2 NA18964.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19004.hp2 NA19005.hp2 NA19012.hp2 NA19064.hp1 NA19080.hp2 NA19083.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0008c0010t0002	a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0114 others(41): Show a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0003g0015 a0001c0001t0003g0022 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0055 a0001c0001t0003g0071 a0001c0001t0006g0135 a0001c0001t0006g0157 a0001c0001t0006g0191 a0001c0001t0012g0178 a0008c0010t0002g0149	44	348	0.1264	18	c.126 others(37): Show c.1264+2286_1264+2287insTTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103485063	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG02818.hp2 others(2): Show HG02109.hp2 HG02622.hp2 HG02818.hp2 HG02970.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0004 a0001c0001t0001 a0001c0001t0004 a0001c0004t0004	a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0004g0085 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0004g0085 a0001c0001t0004g0090 a0001c0004t0004g0089	5	348	0.0144	18	c.158 others(37): Show c.1586+4590_1586+4591insAAAAAAAAAAAAAAAAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARS1_chr12_57483068_57521652	57493776	T T	TAATATAT others(11): Show TAATATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	288	0.0035	18	c.770 others(35): Show c.770+3133_770+3134insATATATTATATATTATAA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARVELD2_chr5_69410116_69449330	69410965	C C	CTGTCCAT others(11): Show CTGTCCATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18946.hp1 NA18977.hp1 others(2): Show NA18944.hp2 NA18946.hp1 NA18977.hp1 NA19004.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0048 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0001g0098	5	345	0.0145	18	c.-42 others(29): Show c.-4221_-4220insTGTCCATATATATATATA	MARVELD2	ENSG00000152939.17	transcript	ENST00000325631.10	protein_coding		4150		chr5	TogoVar

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