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

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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
MPPED1_chr22_43407014_43512848	43432881	A A	AAGAGAAA others(41): Show AAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAGAGAAAGGGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	250	0.0040	48	c.225 others(65): Show c.225-2121_225-2120insGAGAAAGGGAGGAGAGAGAGAAAGGGAG GAGAGAGAGAGGGAAAGAGA		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496864	A A	AGTGGTGG others(41): Show AGTGGTGGTGGAGGTGGTGGTGGTGGAGATGGTGGTGGTGGTGGAGATG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	250	0.0040	48	c.633 others(65): Show c.633-1359_633-1358insGTGGTGGTGGTGGAGATGGTGGTGGTGG TGGAGATGGTGGTGGTGGAG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499704	A A	ATGATGGT others(41): Show ATGATGGTGGTGATGGAGGTGGTGATGGTGGTGGTGATGGAGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03209.hp1 NA19240.hp2 HG02572.hp1 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0008 a0001c0003t0002 a0001c0003t0008	a0001c0003t0002g0168 a0001c0003t0008g0037 a0001c0003t0008g0194 a0001c0003t0002g0168 a0001c0003t0008g0037 a0001c0003t0008g0194	3	250	0.0120	48	c.748 others(65): Show c.748+1365_748+1366insATGGAGGTGGTGATGGTGGTGGTGATGG AGGTGGTGGTGATGGTGGTG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500130	G G	GTGGTGGT others(41): Show GTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01261.hp1 others(17): Show HG00738.hp2 HG01099.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG02083.hp1 HG02129.hp1 HG02165.hp2 HG02602.hp2 HG03688.hp2 HG04204.hp1 NA18612.hp1 NA18942.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19064.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0115 a0001c0001t0001g0125 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0204 a0001c0001t0002g0148 a0001c0002t0001g0022 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0001g0164 a0001c0002t0003g0062 a0001c0002t0003g0080 a0001c0002t0003g0233 a0001c0002t0003g0236 a0001c0002t0003g0249 a0001c0005t0001g0051 a0001c0005t0001g0052	20	250	0.0800	48	c.748 others(65): Show c.748+1784_748+1785insGGTGGTGATGGTGATGGAGGTGGTGATG GGGGTGGTGGTGGTGATGGT		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500184	A A	ATGGAGGT others(41): Show ATGGAGGTGTTGGTGGTGGCGATGGAGGTGGTAGTGGTGGTGATGAAGG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0226 a0001c0001t0008g0226	1	250	0.0040	48	c.748 others(65): Show c.748+1837_748+1838insAGGTGTTGGTGGTGGCGATGGAGGTGGT AGTGGTGGTGATGAAGGTGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500295	G G	GTGGTGAT others(41): Show GTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	250	0.0040	48	c.748 others(65): Show c.748+1950_748+1951insATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGCAGTGATGATGGTG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPZL1_chr1_167716982_167796919	167739282	C C	CATATATA others(41): Show CATATATATATACATATATATATACATATATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0033 a0001c0001t0032g0033	1	378	0.0027	48	c.91+ others(65): Show c.91+17051_91+17052insCATATATATATACATATATATATACATA TATATATATATATATATATA		MPZL1	ENSG00000197965.12	transcript	ENST00000359523.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
MRGPRG_chr11_3212944_3223813	3214842	T T	TCCATCCA others(41): Show TCCATCCATCCATCCATCCATCCACCCACCCATCCATCCACCCACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	426	0.0024	48	c.31 others(59): Show c.3101_*3102insGTGGGTGGGTGGATGGATGGGTGGGTGGATGGAT GGATGGATGGATGG		MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding					3101		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3214902	T T	TCCACCCA others(41): Show TCCACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	426	0.0024	48	c.30 others(59): Show c.3041_*3042insGTGGGTGGATGGATGGATGGATGGGTGGGTGGGT GGGTGGGTGGGTGG		MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding					3041		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3214914	C C	CCCACCCA others(41): Show CCCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG02922.hp1 others(3): Show HG02258.hp2 HG02818.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	6	426	0.0141	48	c.30 others(59): Show c.3029_*3030insATGGGTGGGTGGGTGGGTGGATGGATGGATGGGT GGGTGGGTGGGTGG		MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding					3029		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3214914	C C	CCCACCCA others(41): Show CCCACCCACCCATCCATCCATCCACCCACCCACCCATCCATCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	426	0.0024	48	c.30 others(59): Show c.3029_*3030insATGGATGGATGGATGGGTGGGTGGGTGGATGGAT GGATGGGTGGGTGG		MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding					3029		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3214916	C C	CACCCACC others(41): Show CACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCACCCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	426	0.0024	48	c.30 others(59): Show c.3027_*3028insAGATGGGTGGGTGGGTGGGTGGGTGGATGGATGG ATGGGTGGGTGGGT		MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding					3027		chr11	TogoVar
MRI1_chr19_13759522_13779282	13764287	A A	ACGTGGAA others(41): Show ACGTGGAATCCGCGTCCTGGGAACCCGTGGAATCCGCGTCCTGGGAACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02055.hp2 HG02145.hp1 others(7): Show HG01192.hp1 HG02055.hp2 HG02145.hp1 HG02818.hp2 HG02886.hp2 HG03490.hp1 HG04204.hp2 NA18953.hp2 NA18966.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0083 a0001c0001t0001g0160 a0001c0001t0002g0040 others(7): Show a0001c0001t0001g0083 a0001c0001t0001g0160 a0001c0001t0002g0040 a0001c0001t0002g0082 a0001c0001t0002g0123 a0001c0001t0002g0144 a0001c0001t0002g0259 a0001c0001t0003g0088 a0001c0001t0005g0045 a0001c0001t0005g0048	10	460	0.0217	48	c.-30 others(57): Show c.-302_-301insCGTGGAATCCGCGTCCTGGGAACCCGTGGAATCCGC GTCCTGGGAACC		MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding					234		chr19	TogoVar
MRI1_chr19_13759522_13779282	13764300	G G	GTCCTGGG others(41): Show GTCCTGGGAACCCGTGGAATCCGCCTCCTGGGAACCCGTGGAATCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02717.hp2 HG02809.hp1 others(2): Show HG02486.hp1 HG02717.hp2 HG02809.hp1 HG03453.hp1 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0020 a0003c0003t0010 a0001c0001t0001 a0001c0001t0020 a0003c0003t0010	a0001c0001t0001g0246 a0001c0001t0020g0241 a0003c0003t0010g0022 a0001c0001t0001g0246 a0001c0001t0020g0241 a0003c0003t0010g0022	5	460	0.0109	48	c.-28 others(57): Show c.-289_-288insTCCTGGGAACCCGTGGAATCCGCCTCCTGGGAACCC GTGGAATCCGCC		MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding					221		chr19	TogoVar
MRI1_chr19_13759522_13779282	13764324	G G	GTCCTGGG others(41): Show GTCCTGGGAACCCGTGGAATCCGCCTCCTGGGAACCCGTGGAATCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	460	0.0022	48	c.-26 others(57): Show c.-265_-264insTCCTGGGAACCCGTGGAATCCGCCTCCTGGGAACCC GTGGAATCCGCC		MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding					197		chr19	TogoVar
MROH9_chr1_170930534_171069765	170933501	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 NA19043.hp2 NA19090.hp2 HG01109.hp1 NA19043.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0064 a0001c0001t0003g0011 a0002c0002t0001g0060 a0001c0001t0001g0064 a0001c0001t0003g0011 a0002c0002t0001g0060	3	226	0.0133	48	c.-21 others(59): Show c.-2124_-2123insAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG		MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding					2032		chr1	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(41): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	404	0.0025	48	c.48+ others(63): Show c.48+1416_48+1417insACACACACACACACACACACTCTCTCTCTC TCTCTCTCTCTCTCTCTC		MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6						chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(41): Show AGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03942.hp1 HG00140.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0166 a0001c0001t0001g0167	2	404	0.0050	48	c.48+ others(63): Show c.48+1416_48+1417insACACACACACACACACACACACACTCTCTC TCTCTCTCTCTCTCTCTC		MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6						chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(41): Show AGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	404	0.0025	48	c.48+ others(63): Show c.48+1416_48+1417insACACACACACACACACACACACACACACTC TCTCTCTCTCTCTCTCTC		MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6						chr6	TogoVar
MRPS14_chr1_175007958_175028425	175027207	T T	TATATATT others(41): Show TATATATTCTATATATATTGAATATATATTTAATATATATTTATATTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	398	0.0025	48	c.-38 others(59): Show c.-3800_-3799insTCAATATAAATATATATTAAATATATATTCAATA TATATAGAATATAT		MRPS14	ENSG00000120333.4	transcript	ENST00000476371.1	protein_coding					3783		chr1	TogoVar
MRS2_chr6_24397936_24431190	24430954	C C	CAACTGAT others(41): Show CAACTGATGTAAGCTATAGTTGATATATGTATAGTTTTATATAATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	48	c.72 others(59): Show c.7260_*7261insAACTGATGTAAGCTATAGTTGATATATGTATAGT TTTATATAATACAT		MRS2	ENSG00000124532.15	transcript	ENST00000378386.8	protein_coding					4765		chr6	TogoVar
MRTFA_chr22_40405289_40641719	40446158	A A	AATCTATG others(41): Show AATCTATGGGGTATCATTTTGATGCCACGTGAAAATCCTGTTTTCCCAC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	256	0.0039	48	c.308 others(67): Show c.308-10652_308-10605dupGTGGGAAAACAGGATTTTCACGTGGC ATCAAAATGATACCCCATAGAT		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	4/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSH3_chr5_80649652_80881815	80692122	A A	ATAGATAG others(41): Show ATAGATAGATAAACATGTATATGTTTAGATAGATAAACATGTATATGTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01256.hp1 others(2): Show HG00639.hp2 HG01069.hp1 HG01256.hp1 HG02145.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0085 others(2): Show a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0085 a0001c0001t0002g0170 a0001c0001t0002g0171	5	362	0.0138	48	c.134 others(69): Show c.1340+13063_1340+13064insAACATGTATATGTTTAGATAGATA AACATGTATATGTTTAGATAGATA		MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80692525	T T	TAGATAAA others(41): Show TAGATAAACATGTATATGTTTAGATAGATAAACATGTATATGTTTAGAG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0282 a0004c0005t0007g0282	1	362	0.0028	48	c.134 others(69): Show c.1340+13453_1340+13454insGATAGATAAACATGTATATGTTTA GAGAGATAAACATGTATATGTTTA		MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH6_chr2_47778145_47811953	47788906	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0273 a0002c0003t0001g0273	1	390	0.0026	48	c.261 others(65): Show c.261-2021_261-2020insTTTTTTTTTTTTTGTTTTTGTTTTTTTT TTTTTTTTTTTTTTTTTTTT		MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	1/9						chr2	TogoVar
MSL1_chr17_40116971_40141917	40140377	C C	CACACACC others(41): Show CACACACCAACACACACACACACACACACCCCAACACACACACACCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0023 a0001c0002t0011g0023	1	356	0.0028	48	c.60 others(59): Show c.6008_*6009insACACACCAACACACACACACACACACACCCCAAC ACACACACACCCCA		MSL1	ENSG00000188895.12	transcript	ENST00000398532.9	protein_coding					3461		chr17	TogoVar
MSLN_chr16_755734_773862	767605	G G	GAGGGGCG others(41): Show GAGGGGCGAGCGGGAGGAGGGGCACGTGGAGGAGGGGCGAGCGGGAGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG02630.hp1 others(5): Show HG01891.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02965.hp1 NA18747.hp1 NA19030.hp2 NA20300.hp2	a0002 a0008 a0014 others(1): Show a0002 a0008 a0014 a0028	a0002c0002 a0008c0009 a0014c0024 others(1): Show a0002c0002 a0008c0009 a0014c0024 a0028c0044	a0002c0002t0002 a0008c0009t0002 a0014c0024t0013 others(1): Show a0002c0002t0002 a0008c0009t0002 a0014c0024t0013 a0028c0044t0002	a0002c0002t0002g0310 a0008c0009t0002g0028 a0008c0009t0002g0044 others(5): Show a0002c0002t0002g0310 a0008c0009t0002g0028 a0008c0009t0002g0044 a0008c0009t0002g0045 a0008c0009t0002g0046 a0008c0009t0002g0048 a0014c0024t0013g0290 a0028c0044t0002g0250	8	388	0.0206	48	c.159 others(65): Show c.1596+135_1596+136insAGGGGCGAGCGGGAGGAGGGGCACGTGG AGGAGGGGCGAGCGGGAGGA		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17						chr16	TogoVar
MSLN_chr16_755734_773862	767950	A A	AGGGGCGC others(41): Show AGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCACATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03017.hp1 HG00280.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0051 a0001c0001t0001g0052	2	388	0.0052	48	c.159 others(65): Show c.1597-412_1597-411insGCGCGTGGGGGGGTGTGGAGGGGGGCAC ATGGGGGCGCGTGGAGGGGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767979	G G	GGTGTGGA others(41): Show GGTGTGGAGGGGGGCACATGGGGGTGCGTGGGGGGGCGTGTGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0253 a0002c0003t0002g0253	1	388	0.0026	48	c.159 others(65): Show c.1597-399_1597-398insTGTGGAGGGGGGCACATGGGGGTGCGTG GGGGGGCGTGTGGGGGGGTG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	768000	A A	AGGGGGGC others(41): Show AGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp1 HG02976.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0218 a0002c0003t0004g0219 a0002c0003t0004g0218 a0002c0003t0004g0219	2	388	0.0052	48	c.159 others(65): Show c.1597-377_1597-376insGGGGCGCGTGGGGGGGGCGCATGGGGGG GCGTGGAGGGGGGTGCGTGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	769194	G G	GCCCCGGC others(41): Show GCCCCGGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCAGCCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02615.hp1 HG01069.hp2 HG01071.hp1 HG02615.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0014 a0006c0007t0001g0258 a0006c0007t0001g0014 a0006c0007t0001g0258	3	388	0.0077	48	c.46 others(57): Show c.461_*462insCCCCGGCCCCAGCCCCGGCCCCGGCCCCACCCCCGG CCCCAGCCCCAA		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding					333		chr16	TogoVar
MSLN_chr16_755734_773862	769194	G G	GCCCCGGC others(41): Show GCCCCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCAGCCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0001 a0016c0029t0001	a0016c0029t0001g0225 a0016c0029t0001g0225	1	388	0.0026	48	c.46 others(57): Show c.461_*462insCCCCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGG CCCCAGCCCCAA		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding					333		chr16	TogoVar
MSRA_chr8_10049292_10433891	10417754	T T	TTGTGTGT others(41): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG01515.hp2 others(6): Show HG01081.hp1 HG01192.hp1 HG01515.hp2 HG03942.hp1 NA18950.hp2 NA18960.hp2 NA18977.hp2 NA19068.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0159 a0001c0001t0003g0103 a0001c0001t0003g0118 others(6): Show a0001c0001t0001g0159 a0001c0001t0003g0103 a0001c0001t0003g0118 a0001c0001t0003g0123 a0001c0001t0003g0207 a0001c0001t0003g0228 a0001c0001t0003g0240 a0001c0001t0003g0251 a0001c0001t0003g0254	9	286	0.0315	48	c.544 others(67): Show c.544-10369_544-10368insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT		MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
MT4_chr16_56560073_56573957	56566797	A A	AGAAGGAA others(41): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	428	0.0023	48	c.32- others(61): Show c.32-951_32-950insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAA		MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr16	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	312	0.0032	48	c.191 others(67): Show c.191-14729_191-14728insATATATATATATATATATATATATAT ATATATATATATATATTTTTTT		MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
MTERF3_chr8_96234402_96266610	96250615	C C	CAGAAGAA others(41): Show CAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	294	0.0034	48	c.677 others(63): Show c.677+243_677+290dupTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCT		MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7						chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250696	G G	GGGGGGAG others(41): Show GGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02559.hp1 HG03041.hp2 HG01109.hp1 HG02559.hp1 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0013 a0002c0002t0003g0013	3	294	0.0102	48	c.677 others(63): Show c.677+209_677+210insTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCC		MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7						chr8	TogoVar
MTHFD1L_chr6_150860702_151106887	150932812	G G	GAAGGAGG others(41): Show GAAGGAGGGAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03669.hp2 HG02486.hp1 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0010 a0001c0004t0001 a0001c0002t0010 a0001c0004t0001	a0001c0002t0010g0218 a0001c0004t0001g0103 a0001c0002t0010g0218 a0001c0004t0001g0103	2	226	0.0089	48	c.125 others(67): Show c.1257-3991_1257-3990insAGGAGGGAGGAAGGAAGGAAAGAAGG AAGGAAGGAAGGAAGGAAGGAA		MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	11/27					INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1_chr14_64383353_64465025	64429261	A A	AACATATA others(41): Show AACATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG02155.hp2 others(3): Show HG00423.hp1 HG00673.hp1 HG02155.hp2 HG02698.hp2 NA18945.hp2 NA18954.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0322 a0003c0003t0001g0147 a0003c0003t0001g0156 others(3): Show a0002c0002t0001g0322 a0003c0003t0001g0147 a0003c0003t0001g0156 a0003c0003t0001g0167 a0003c0003t0001g0174 a0003c0003t0001g0182	6	342	0.0175	48	c.126 others(65): Show c.1265-922_1265-921insCATATATATATATATATATATATATATA TATATATATATATATATATA		MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	12/27					INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFD1_chr14_64383353_64465025	64429262	A A	ACATATAT others(41): Show ACATATATATATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0186 a0003c0003t0001g0186	1	342	0.0029	48	c.126 others(65): Show c.1265-922_1265-921insCATATATATATATATATATATATATATA TATATATATATATATATATC		MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	12/27						chr14	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(41): Show CCACACACATGCGCGCGCGCGCGCGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0043 a0002c0003t0003g0043	1	372	0.0027	48	c.371 others(65): Show c.3711+190_3711+191insTGCGCGCGCGCGCGCGCGCGCGCGCACA CACACACACACACACACACA		MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32					INFO_REALIGN_3_PRIME	chr1	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(41): Show CCACACACATGCGCGCGCGCGCGCGCGCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0064 a0002c0003t0003g0064	1	372	0.0027	48	c.371 others(65): Show c.3711+190_3711+191insTGCGCGCGCGCGCGCGCGCGCGCGCGCG CACACACACACACACACACA		MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32					INFO_REALIGN_3_PRIME	chr1	TogoVar
MTSS1_chr8_124545784_124733473	124602188	C C	CATATATA others(41): Show CATATATATATATATATATACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03490.hp1 HG01891.hp1 HG03490.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0001c0001t0002 a0002c0002t0005	a0001c0001t0002g0047 a0002c0002t0005g0115 a0001c0001t0002g0047 a0002c0002t0005g0115	2	286	0.0070	48	c.209 others(67): Show c.209-10954_209-10953insATATATATATATATATGTGTGTGTGT GTGTATATATATATATATATAT		MTSS1	ENSG00000170873.19	transcript	ENST00000518547.6	protein_coding	3/13						chr8	TogoVar
MUC4_chr3_195741771_195816929	195778895	T T	TGGTGACA others(41): Show TGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02523.hp2 HG02523.hp2	a0027 a0027	a0027c0136 a0027c0136	a0027c0136t0002 a0027c0136t0002	a0027c0136t0002g0026 a0027c0136t0002g0026	1	249	0.0040	48	c.126 others(59): Show c.12637_12684dupGACACTTCCTCAGCATCCACAGGTCACGCCACCC CTCTTCCTGTCACC	p.Thr others(63): Show p.Thr4228_Ser4229insAspThrSerSerAlaSerThrGlyHisAla ThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12796/16756	12684/16239	4228/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779143	G G	GGAAGAGA others(41): Show GGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTTGGTGACAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03209.hp2 HG03209.hp2	a0052 a0052	a0052c0140 a0052c0140	a0052c0140t0002 a0052c0140t0002	a0052c0140t0002g0062 a0052c0140t0002g0062	1	249	0.0040	48	c.124 others(59): Show c.12436_12437insTTGTCACCAACACTTCCTCAGTATCCACAGGTCA CGCCACCTCTCTTC	p.Leu others(63): Show p.Leu4145_Pro4146insLeuValThrAsnThrSerSerValSerThr GlyHisAlaThrSerLeu	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12548/16756	12436/16239	4146/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779218	G G	GATGAGGA others(41): Show GATGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00597.hp2 HG00597.hp2	a0132 a0132	a0132c0085 a0132c0085	a0132c0085t0001 a0132c0085t0001	a0132c0085t0001g0173 a0132c0085t0001g0173	1	249	0.0040	48	c.123 others(59): Show c.12361_12362insTATCTACAGGTCACGTCACCCCTCTTCATGTCAC CAGCCCTTCCTCAT	p.Ala others(61): Show p.Ala4121delinsValSerThrGlyHisValThrProLeuHisValTh rSerProSerSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12473/16756	12361/16239	4121/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779231	C C	CGCTGACA others(41): Show CGCTGACAGGAAGAGAGGTGGTGTGACCTGAGGATGCTGAGGAAGGGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp2 HG03041.hp1 HG03225.hp1 others(1): Show HG02717.hp2 HG03041.hp1 HG03225.hp1 NA18906.hp1	a0051 a0054 a0055 others(1): Show a0051 a0054 a0055 a0056	a0051c0139 a0054c0141 a0055c0143 others(1): Show a0051c0139 a0054c0141 a0055c0143 a0056c0142	a0051c0139t0001 a0054c0141t0001 a0055c0143t0001 others(1): Show a0051c0139t0001 a0054c0141t0001 a0055c0143t0001 a0056c0142t0007	a0051c0139t0001g0068 a0054c0141t0001g0069 a0055c0143t0001g0007 others(1): Show a0051c0139t0001g0068 a0054c0141t0001g0069 a0055c0143t0001g0007 a0056c0142t0007g0006	4	249	0.0161	48	c.123 others(59): Show c.12348_12349insATCCCTTCCTCAGCATCCTCAGGTCACACCACCT CTCTTCCTGTCAGC	p.Thr others(63): Show p.Thr4116_Asp4117insIleProSerSerAlaSerSerGlyHisThr ThrSerLeuProValSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12460/16756	12348/16239	4116/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779306	C C	CTGTGGAT others(41): Show CTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp2 HG03041.hp1 HG03225.hp1 others(1): Show HG02717.hp2 HG03041.hp1 HG03225.hp1 NA18906.hp1	a0051 a0054 a0055 others(1): Show a0051 a0054 a0055 a0056	a0051c0139 a0054c0141 a0055c0143 others(1): Show a0051c0139 a0054c0141 a0055c0143 a0056c0142	a0051c0139t0001 a0054c0141t0001 a0055c0143t0001 others(1): Show a0051c0139t0001 a0054c0141t0001 a0055c0143t0001 a0056c0142t0007	a0051c0139t0001g0068 a0054c0141t0001g0069 a0055c0143t0001g0007 others(1): Show a0051c0139t0001g0068 a0054c0141t0001g0069 a0055c0143t0001g0007 a0056c0142t0007g0006	4	249	0.0161	48	c.122 others(59): Show c.12273_12274insAGTCACGCCACCCCTCTTCCTGTCACCGACACTT CCTCAGTATCCACA	p.Thr others(63): Show p.Thr4091_Gly4092insSerHisAlaThrProLeuProValThrAsp ThrSerSerValSerThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12385/16756	12273/16239	4091/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779307	G G	GGTGGATG others(41): Show GGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03834.hp2 HG03834.hp2	a0084 a0084	a0084c0187 a0084c0187	a0084c0187t0003 a0084c0187t0003	a0084c0187t0003g0216 a0084c0187t0003g0216	1	249	0.0040	48	c.122 others(59): Show c.12272_12273insAGGTCACGCCACCCCTCTTCATGTCACCAGCCCT TCCTCAGCATCCAC	p.Thr others(63): Show p.Thr4091_Gly4092insGlyHisAlaThrProLeuHisValThrSer ProSerSerAlaSerThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12384/16756	12272/16239	4091/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779492	C C	CCTGACCT others(41): Show CCTGACCTGTGGATGCTGAGGAAGTGTCGCTGACAGGAAGAGAGGTGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01070.hp1 HG01070.hp1	a0150 a0150	a0150c0093 a0150c0093	a0150c0093t0001 a0150c0093t0001	a0150c0093t0001g0119 a0150c0093t0001g0119	1	249	0.0040	48	c.120 others(59): Show c.12087_12088insACCACCTCTCTTCCTGTCAGCGACACTTCCTCAG CATCCACAGGTCAG	p.His others(63): Show p.His4029_Ala4030insThrThrSerLeuProValSerAspThrSer SerAlaSerThrGlyGln	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12199/16756	12087/16239	4029/5412			chr3	TogoVar

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