JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
MCF2L_chr13_112964214_113104742	113026067	A A	ATGGGGTC others(425): Show ATGGGGTCCCCGTGACCGTGGGACGGGGCAGAGTCCCTGTGAGATTTCCC CTTTGTGGGGTCCCCATGACGGTGGGACGGGGCAGAGTCCCTGTGAGGTT TCACCATGGTGGGGTCCCCGTGACTGTGGGTCGGGGCAGAGTCCCTGTGA GATTTCTCCTTTGTGGGGTCCCCGCGACTGTGGGTTGGGGCAGAGTCTCT GTGAGGTTTCCCCATTGTGGGGTCCCTGTGACTTTGGGACGGGGTAGAGT CTCTGTGAGGTTCCACCAGGCTGGGGTCCCTGTGACTGTGGGTCGGGGCA GAGTCTCTGTGAGGTTCCACCATGGTGGGGTCCCCGTGACTGTGGGTTGG GGCAGAGTCTCTGTGAGGTTTCCCCATTGTGGGGTCCCTGTGACTTTGGG ACGGGGCAGAGTCTCTGTGAGGTTCCACCATAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0109 a0002c0017t0001g0109	1	116	0.0086	432	c.278 others(449): Show c.278+1311_278+1312insGGGTCCCCGTGACCGTGGGACGGGGCAG AGTCCCTGTGAGATTTCCCCTTTGTGGGGTCCCCATGACGGTGGGACGGG GCAGAGTCCCTGTGAGGTTTCACCATGGTGGGGTCCCCGTGACTGTGGGT CGGGGCAGAGTCCCTGTGAGATTTCTCCTTTGTGGGGTCCCCGCGACTGT GGGTTGGGGCAGAGTCTCTGTGAGGTTTCCCCATTGTGGGGTCCCTGTGA CTTTGGGACGGGGTAGAGTCTCTGTGAGGTTCCACCAGGCTGGGGTCCCT GTGACTGTGGGTCGGGGCAGAGTCTCTGTGAGGTTCCACCATGGTGGGGT CCCCGTGACTGTGGGTTGGGGCAGAGTCTCTGTGAGGTTTCCCCATTGTG GGGTCCCTGTGACTTTGGGACGGGGCAGAGTCTCTGTGAGGTTCCACCAT AGTG		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MEGF6_chr1_3482951_3616508	3583324	A A	ACAGCCAC others(425): Show ACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAG CCACCAGACAACGCGCAGCCACCAGACAACCCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0096 a0096	a0096c0053 a0096c0053	a0096c0053t0026 a0096c0053t0026	a0096c0053t0026g0011 a0096c0053t0026g0011	1	292	0.0034	432	c.377 others(449): Show c.377-3396_377-3395insCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583342	G G	GCAGCCAC others(425): Show GCAGCCACCAGACAACACGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAG CCACCAGACAACCCACAGCCACCAGACAACGCA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0010 a0012c0010	a0012c0010t0001 a0012c0010t0001	a0012c0010t0001g0178 a0012c0010t0001g0178	1	292	0.0034	432	c.377 others(449): Show c.377-3414_377-3413insTGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGTGTTGTCTGGTG GCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(425): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	390	0.0026	432	c.112 others(449): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATA TATA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(425): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0201 a0001c0001t0004g0201	1	390	0.0026	432	c.112 others(449): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TATA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(425): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0206	1	390	0.0026	432	c.112 others(449): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TATA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(425): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03704.hp2 HG00544.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	2	390	0.0051	432	c.112 others(449): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATAT		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7						chr1	TogoVar
MICAL3_chr22_17782649_18029561	17876829	T T	TGGAGGTT others(425): Show TGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAG GGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGC TTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAGCTTATGGAGGTTAGG GAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGT TATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAGGTT AGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGA GGTTAGGGAAGTTATGGAGGTTATGGAGGTTAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	274	0.0037	432	c.224 others(451): Show c.2242-4807_2242-4806insCTAACCTCCATAACCTCCATAACTTC CCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAAC CTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCT TAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCTTAACCTCCCTAACC TCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCAT AACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCT CCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATA ACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877004	G G	GGTTAGGG others(425): Show GGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTA GGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAG TTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGT TAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTT AGGGAGGTTAGGGAAGTTATGGAGGTTATGGCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	274	0.0037	432	c.224 others(451): Show c.2242-4982_2242-4981insTGCCATAACCTCCATAACTTCCCTAA CCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCATAACC TCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCT CACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACTTC CCTAAC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877016	T T	TAGGGAGG others(425): Show TAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTG AGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGA GGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTGAGGGAGGTTA TGGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAAGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAAGTTATGGAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0073 a0001c0001t0007g0073	1	274	0.0037	432	c.224 others(451): Show c.2242-4994_2242-4993insCACCTCCATAACCTCCATAACTTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACC TCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACTT CCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCCTA ACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACTTCCCTAACCTC CATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTCACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCC CTCACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAAC CTCCCT		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877097	T T	TAGGGAGG others(425): Show TAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGG AGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTT ATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGAGAA GTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTACGGAGGTTAT GGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATG GAGGTTATGGAGGTTATGGAGGTTAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0002 a0016c0032t0002	a0016c0032t0002g0105 a0016c0032t0002g0105	1	274	0.0037	432	c.224 others(451): Show c.2242-5075_2242-5074insCACCTCCCTAACCTCCATAACCTCCA TAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAACT TCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACTTCCCT AACCTCCATAACCTCCGTAACCTCCCTAACCTTCATAACCTCCCTAACCT CCATAACTTCTCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAGCTCCCTAA CCTCCATAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCC TTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCATAAC CTCCCT		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877279	G G	GGGAGGTT others(425): Show GGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	274	0.0037	432	c.224 others(451): Show c.2242-5257_2242-5256insATAACCTCCCTAACCTCCATAACCTC CCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC TTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCC TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTT CCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTA ACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MLXIPL_chr7_73588202_73629522	73600286	C C	CGAGTGGG others(425): Show CGAGTGGGGTGGGGGCGAGAGGGGCCTAAGGGTGGGCTCTGAGTGGTGTG TGGGCAAGAGGGAGATATGGGTGGGCTCTGAGTGGGATGGGGGTGAGGGG GGTGCCTAAGGCTGGGCTCCAAGTGGGGTGTGGGCAAGAGGGGCTAAGGG TGGGCTCTGAGTGGGGTGGGGGCGAGAGGGGCCTAAGGGTGGGTTCTGAG TGGGGTGTGGGCAAGAGGGGGATACGGGTGGGCTCCAAGTGGGGGGGGGG TGAAGGGGGACCTAAGACTGGGCTCCAAGTGGGGTGGGGGCAAGAGGGGC TAAGGGTGGGCTCCAAGTAGGGTGGGGATGAGAGGGGGCCTAAGGGTGGG CTCCGAGTGGGGTGGGGGCGAGAGGGGCCTAAGGCTGGGCTCCGAAAGGG GTGGGGGCGAGAGGGGCCCTAAGGGTGGGCTCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	276	0.0036	432	c.902 others(448): Show c.902-1023_902-592dupAGAGCCCACCCTTAGGGCCCCTCTCGCCC CCACCCCTTTCGGAGCCCAGCCTTAGGCCCCTCTCGCCCCCACCCCACTC GGAGCCCACCCTTAGGCCCCCTCTCATCCCCACCCTACTTGGAGCCCACC CTTAGCCCCTCTTGCCCCCACCCCACTTGGAGCCCAGTCTTAGGTCCCCC TTCACCCCCCCCCCACTTGGAGCCCACCCGTATCCCCCTCTTGCCCACAC CCCACTCAGAACCCACCCTTAGGCCCCTCTCGCCCCCACCCCACTCAGAG CCCACCCTTAGCCCCTCTTGCCCACACCCCACTTGGAGCCCAGCCTTAGG CACCCCCCTCACCCCCATCCCACTCAGAGCCCACCCATATCTCCCTCTTG CCCACACACCACTCAGAGCCCACCCTTAGGCCCCTCTCGCCCCCACCCCA CTC		MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16						chr7	TogoVar
MOV10L1_chr22_50085006_50166687	50147175	G G	GGCAGGCC others(425): Show GGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTG CAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCA GGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGG CCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCC GCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGC TCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTC TCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTC TCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTC AGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	400	0.0025	432	c.262 others(451): Show c.2627+1386_2627+1387insGCTCTGTGCAGAAGCAGGGAGGGTGC TGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTG CAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCA GGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGG CCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCC GCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGC TCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTC TCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTC TCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTC AGAGGC		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500278	C C	CGGTGGTG others(425): Show CGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGATGGGGGTGGC GGTGATGGGGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTG ATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGG TGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGAGGTGGTG ATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGT GATGGTGATGGAGGTGGCGGTGGTGATGGTGGT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	250	0.0040	432	c.748 others(449): Show c.748+1939_748+1940insTGGTGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGA TGGGGGTGGCGGTGATGGGGGTGATGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGT GGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGA TGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTG GTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGAT GGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGA TGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTG ATGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500359	A A	AGGTGGTG others(425): Show AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGT GGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGA TGGAGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTG GTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGAT GGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTG ATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGT GATGGTGATGGAGGTGGTGGTGGTGATGGTGGT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18981.hp2 NA18999.hp2 others(1): Show NA18968.hp1 NA18981.hp2 NA18999.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0001t0001 a0001c0002t0001 a0001c0002t0013	a0001c0001t0001g0044 a0001c0002t0001g0073 a0001c0002t0001g0076 others(1): Show a0001c0001t0001g0044 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0013g0075	4	250	0.0160	432	c.748 others(449): Show c.748+2051_748+2052insGATGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGTGA TGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGT GATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGG TGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGT		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(425): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	364	0.0028	432	c.18 others(443): Show c.1842_*1843insATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAA TCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGCT AATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTCACCAGGA TGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAATA TATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCAG GGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCAG CCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCTAT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(425): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	364	0.0028	432	c.18 others(443): Show c.1842_*1843insATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAA TCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGCT AATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTCACCAGGA TGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAATA TATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCAG GGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCAG CCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCTAT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(425): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	364	0.0028	432	c.18 others(443): Show c.1842_*1843insATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAA TCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGCT AATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTCACCAGGA TGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAATA TATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCAG GGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCAG CCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCTAT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735557	A A	ATAGGCAG others(425): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG03704.hp1 HG00544.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	2	364	0.0055	432	c.18 others(443): Show c.1840_*1841insATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACA ATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGC TAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTCACCAGG ATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAAT ATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCA GGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCA GCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCTA		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1745		chr1	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(425): Show CGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	394	0.0025	432	c.315 others(449): Show c.315+6200_315+6201insACCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATA GCGG		MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
MSLN_chr16_755734_773862	767614	T T	TGGAGGGG others(425): Show TGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCG TGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGG GCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGTGCGTGGAGG AGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGT GGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGG CGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGG GCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGC GCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACG TGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	388	0.0026	432	c.159 others(449): Show c.1596+146_1596+147insAGGGGGGAGCGTGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGA GGGGGGCGCGTGGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTG GAGGAGGGGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGG GCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGA GGGGGCCGTGTGGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCG TGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTG GGGGGGTGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGG GGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAG GAGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(425): Show GGCGTGGAGGGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGG GGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAG GGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGA GGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGTGTG GAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGT GGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGG CGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTG TGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGG GGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0198 a0005c0005t0001g0198	1	388	0.0026	432	c.159 others(449): Show c.1596+158_1596+159insGGGGCGCGTGGAGGGGGGAGCGTGGGGG GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGG GGGGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCG TGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGG AGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGG GGCGCATGGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGG CGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGT GCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTG GAGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189584	A A	ATATACAT others(425): Show ATATACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTA TATATATTTTATATACATAAAATCTTATTTTATATATATTTTATATACAT AAAATCTTATTTTATATATATTTTATATATAAAATCTTATTTTATATATA TTTTATATATAAAATCTTATTTTATATATATTTTATATATAAAATCTTAT TTTATATATATTTTATATATATTTTATATATATAAAATCTTTATATATAT TTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTTACT TTATATATATTTTATATATATAAAATCTTACTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0045	1	330	0.0030	432	c.-5+ others(447): Show c.-5+3013_-5+3014insAAGTAAGATTTTATATATATAAAATATATA TAAAGTAAGATTTTATATATATAAAATATATATAAAGATTTTATATATAT AAAATATATATAAAGATTTTATATATATAAAATATATATAAAATATATAT AAAATAAGATTTTATATATAAAATATATATAAAATAAGATTTTATATATA AAATATATATAAAATAAGATTTTATATATAAAATATATATAAAATAAGAT TTTATGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAATAT ATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTA TGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAATATATAT AAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTA TA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MSR1_chr8_16102881_16197651	16189584	A A	ATATATAT others(425): Show ATATATATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTA TATATATTTTATATACATAAAATCTTATTTTATATATATTTTATATACAT AAAATCTTATTTTATATATATTTTATATATAAAATCTTATTTTATATATA TTTTATATATAAAATCTTATTTTATATATATTTTATATATAAAATCTTAT TTTATATATATTTTATATATATTTTATATATATAAAATCTTTATATATAT TTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTTACT TTATATATATTTTATATATATAAAATCTTACTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	330	0.0030	432	c.-5+ others(447): Show c.-5+3013_-5+3014insAAGTAAGATTTTATATATATAAAATATATA TAAAGTAAGATTTTATATATATAAAATATATATAAAGATTTTATATATAT AAAATATATATAAAGATTTTATATATATAAAATATATATAAAATATATAT AAAATAAGATTTTATATATAAAATATATATAAAATAAGATTTTATATATA AAATATATATAAAATAAGATTTTATATATAAAATATATATAAAATAAGAT TTTATGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAATAT ATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTA TGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAATATATAT AAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATATA TA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250613	G G	GGAAGCAG others(425): Show GGAAGCAGAAGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAA GAAGCAGAAGAAGCAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAG AAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGCA GAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGA AGAAGAAGAAGCAGAAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAAGCAG AAGCAGAAGCAGAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGAAGCAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	294	0.0034	432	c.677 others(447): Show c.677+292_677+293insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTGCTTCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTGCTTCTG CTTCTGCTTCTGCTTCTTCTTCTGCTTCTTCTTCTTCTTCTGCTTCTTCT TCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTTC TTCTGCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTT CTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTGCTTCTTCTGC TTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTGCT TC		MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7						chr8	TogoVar
MTTP_chr4_99569824_99628997	99588899	A A	ACACATAT others(425): Show ACACATATATATGTTCATATATATACACACATATATATGTTCATATATAT ACACACATATATATGTTCATATATATATTCATATATATATGTTCATGTAT ATTCATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0092 a0002c0014t0001g0092	1	364	0.0028	432	c.394 others(447): Show c.394-742_394-741insCATATATATGTTCATATATATACACACATA TATATGTTCATATATATACACACATATATATGTTCATATATATATTCATA TATATATGTTCATGTATATTCATATATATGTTCATATATATATTCATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CA		MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
MUC4_chr3_195741771_195816929	195779135	T T	TGGTGACA others(425): Show TGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTG GTGACAGGAGGAGGGGTGGCCTGACCTGTGGATGATGAGGAAGGGCTGGT GACATGAAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTGGTGA CAGGAAGAGGGGTGGTGTGACCTGAGGATGATGAGGAAGGGATGGTGACA GGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTTGGTGACAAG AAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTTGTGACAGGAA GAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCCGTGACAGGAAGA CGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG GGTGGCGTGACCTGTGGATACTGAGGAAGCGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp2 HG03225.hp1 NA18906.hp1 HG02717.hp2 HG03225.hp1 NA18906.hp1	a0051 a0055 a0056 a0051 a0055 a0056	a0051c0139 a0055c0143 a0056c0142 a0051c0139 a0055c0143 a0056c0142	a0051c0139t0001 a0055c0143t0001 a0056c0142t0007 a0051c0139t0001 a0055c0143t0001 a0056c0142t0007	a0051c0139t0001g0068 a0055c0143t0001g0007 a0056c0142t0007g0006 a0051c0139t0001g0068 a0055c0143t0001g0007 a0056c0142t0007g0006	3	249	0.0121	432	c.124 others(443): Show c.12444_12445insGACGCTTCCTCAGTATCCACAGGTCACGCCACCC CTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCACCCGT CTTCCTGTCACGGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCTCT TCCTGTCACAAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTC TTGTCACCAACACTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCT GTCACCATCCCTTCCTCATCATCCTCAGGTCACACCACCCCTCTTCCTGT CACCAGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTCATGTCA CCAGCCCTTCCTCATCATCCACAGGTCAGGCCACCCCTCCTCCTGTCACC AGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTCATGTCACC	p.Thr others(447): Show p.Thr4148_Ile4149insAspAlaSerSerValSerThrGlyHisAla ThrProLeuProValThrAspThrSerSerAlaSerThrGlyAspThrTh rArgLeuProValThrAspThrSerSerAlaSerThrGlyGlnAlaThrP roLeuProValThrSerLeuSerSerValSerThrGlyAspThrThrPro LeuLeuValThrAsnThrSerSerValSerThrGlyHisAlaThrSerLe uProValThrIleProSerSerSerSerSerGlyHisThrThrProLeuP roValThrSerThrSerSerValSerThrGlyHisValThrProLeuHis ValThrSerProSerSerSerSerThrGlyGlnAlaThrProProProVa lThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValT hr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12556/16756	12444/16239	4148/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779135	T T	TGGTGACA others(425): Show TGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTG GTGACAGGAGGAGGGGTGGCCTGACCTGTGGATGATGAGGAAGGGCTGGT GACATGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGTGCTGGTGA CAGGAAGAGGGGTGGTGTGACCTGAGGATGATGAGGAAGGGATGGTGACA GGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTTGGTGACAAG AAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTTGTGACAGGAA GAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCCGTGACAGGAAGA CGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG GGTGGCGTGACCTGTGGATACTGAGGAAGCGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03041.hp1 HG03041.hp1	a0054 a0054	a0054c0141 a0054c0141	a0054c0141t0001 a0054c0141t0001	a0054c0141t0001g0069 a0054c0141t0001g0069	1	249	0.0040	432	c.124 others(443): Show c.12444_12445insGACGCTTCCTCAGTATCCACAGGTCACGCCACCC CTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCACCCGT CTTCCTGTCACGGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCTCT TCCTGTCACAAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTC TTGTCACCAACACTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCT GTCACCATCCCTTCCTCATCATCCTCAGGTCACACCACCCCTCTTCCTGT CACCAGCACTTCCTCAGCATCCACAGGTCACGTCACCCCTCTTCATGTCA CCAGCCCTTCCTCATCATCCACAGGTCAGGCCACCCCTCCTCCTGTCACC AGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTCATGTCACC	p.Thr others(447): Show p.Thr4148_Ile4149insAspAlaSerSerValSerThrGlyHisAla ThrProLeuProValThrAspThrSerSerAlaSerThrGlyAspThrTh rArgLeuProValThrAspThrSerSerAlaSerThrGlyGlnAlaThrP roLeuProValThrSerLeuSerSerValSerThrGlyAspThrThrPro LeuLeuValThrAsnThrSerSerValSerThrGlyHisAlaThrSerLe uProValThrIleProSerSerSerSerSerGlyHisThrThrProLeuP roValThrSerThrSerSerAlaSerThrGlyHisValThrProLeuHis ValThrSerProSerSerSerSerThrGlyGlnAlaThrProProProVa lThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValT hr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12556/16756	12444/16239	4148/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779495	G G	GACCTGTA others(425): Show GACCTGTAGATACTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGA CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGTCCTG TGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGGTGTCATCTGTG GAAGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGA AGCTGAGGAAAGGCCGGTAACAGGAAGAGGGGTGGCGTGACCTGTGGATG CTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATACT GAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGA GGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp2 HG00639.hp1 HG00741.hp2 others(8): Show HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01433.hp2 HG02155.hp2 NA18955.hp1 NA18974.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1	a0007 a0015 a0064 others(5): Show a0007 a0015 a0064 a0065 a0085 a0086 a0087 a0091	a0007c0007 a0015c0023 a0064c0195 others(5): Show a0007c0007 a0015c0023 a0064c0195 a0065c0196 a0085c0188 a0086c0185 a0087c0184 a0091c0181	a0007c0007t0003 a0015c0023t0003 a0064c0195t0003 others(5): Show a0007c0007t0003 a0015c0023t0003 a0064c0195t0003 a0065c0196t0003 a0085c0188t0003 a0086c0185t0003 a0087c0184t0003 a0091c0181t0003	a0007c0007t0003g0152 a0007c0007t0003g0154 a0007c0007t0003g0209 others(8): Show a0007c0007t0003g0152 a0007c0007t0003g0154 a0007c0007t0003g0209 a0015c0023t0003g0210 a0015c0023t0003g0212 a0064c0195t0003g0207 a0065c0196t0003g0208 a0085c0188t0003g0218 a0086c0185t0003g0217 a0087c0184t0003g0215 a0091c0181t0003g0214	11	249	0.0442	432	c.120 others(443): Show c.12084_12085insGACACCACCCCTCTTCCTGTCACCGACGCTTCCT CAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCATCCCTTCCTCA GTATCCACAGGTGACACCATGCCTCTTCCTGTCACTAGCCCTTCCTCAGC ATCCACAGGTCACGCCACCCCTCTTCCTGTTACCGGCCTTTCCTCAGCTT CCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCTTCC ACAGATGACACCACCCGTCTTCCTGTCACCGACGTTTCCTCGGCATCCAC AGGACACGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAG GTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGT CACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGTATCTACAGGT	p.Gly others(447): Show p.Gly4028_His4029insAspThrThrProLeuProValThrAspAla SerSerAlaSerThrGlyHisAlaThrProLeuProValThrIleProSe rSerValSerThrGlyAspThrMetProLeuProValThrSerProSerS erAlaSerThrGlyHisAlaThrProLeuProValThrGlyLeuSerSer AlaSerThrGlyAspThrThrProLeuProValThrAspThrSerSerAl aSerThrAspAspThrThrArgLeuProValThrAspValSerSerAlaS erThrGlyHisAlaThrProLeuProValThrSerThrSerSerAlaSer ThrGlyAspThrThrProLeuProValThrAspThrSerSerAlaSerTh rGlyHisAlaThrProLeuHisValThrSerProSerSerValSerThrG ly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12196/16756	12084/16239	4028/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779495	G G	GACCTGTA others(425): Show GACCTGTAGATACTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGA CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGTCCTG TGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGGTGTCATCTGTG GAAGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGA AGCTGAGGAAAGGCCGGTAACAGGAAGAGGGGTGGCGTGACCTGTGGATG CTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATACT GAGGAAGGGATGGTGATAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGA GGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01261.hp1 HG01261.hp1	a0088 a0088	a0088c0180 a0088c0180	a0088c0180t0003 a0088c0180t0003	a0088c0180t0003g0204 a0088c0180t0003g0204	1	249	0.0040	432	c.120 others(443): Show c.12084_12085insGACACCACCCCTCTTCCTGTCACCGACGCTTCCT CAGCATCCACAGGTCACGCCACCCCTCTTCCTATCACCATCCCTTCCTCA GTATCCACAGGTGACACCATGCCTCTTCCTGTCACTAGCCCTTCCTCAGC ATCCACAGGTCACGCCACCCCTCTTCCTGTTACCGGCCTTTCCTCAGCTT CCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCTTCC ACAGATGACACCACCCGTCTTCCTGTCACCGACGTTTCCTCGGCATCCAC AGGACACGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAG GTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGT CACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGTATCTACAGGT	p.Gly others(447): Show p.Gly4028_His4029insAspThrThrProLeuProValThrAspAla SerSerAlaSerThrGlyHisAlaThrProLeuProIleThrIleProSe rSerValSerThrGlyAspThrMetProLeuProValThrSerProSerS erAlaSerThrGlyHisAlaThrProLeuProValThrGlyLeuSerSer AlaSerThrGlyAspThrThrProLeuProValThrAspThrSerSerAl aSerThrAspAspThrThrArgLeuProValThrAspValSerSerAlaS erThrGlyHisAlaThrProLeuProValThrSerThrSerSerAlaSer ThrGlyAspThrThrProLeuProValThrAspThrSerSerAlaSerTh rGlyHisAlaThrProLeuHisValThrSerProSerSerValSerThrG ly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12196/16756	12084/16239	4028/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779515	G G	GTGTCGGT others(425): Show GTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGT GCTGGTGACAGGAAGAGGGGTGGCGTGTCCTGTGGATGCCGAGGAAACGT CGGTGACAGGAAGACGGGTGGTGTCATCTGTGGAAGCTGAGGAAGTGTCG GTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGT GACAGGAAGAGGGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCGGTAA CAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACA GGAAGAGGCATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGG AAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAA GAGGGGTGGTGTCACCTGTGGATACTGAGGAAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp1 HG02451.hp1	a0057 a0057	a0057c0148 a0057c0148	a0057c0148t0008 a0057c0148t0008	a0057c0148t0008g0198 a0057c0148t0008g0198	1	249	0.0040	432	c.120 others(443): Show c.12064_12065insTTTCCTCAGTATCCACAGGTGACACCACCCCTCT TCCTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTC CTGTCACCATCCCTTCCTCAGTATCCACAGGTGACACCATGCCTCTTCCT GTCACTAGCCCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGT TACCGGCCTTTCCTCAGCTTCCACAGGTGACACCACCCCTCTTCCTGTCA CCGACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACC GACACTTCCTCAGCTTCCACAGATGACACCACCCGTCTTCCTGTCACCGA CGTTTCCTCGGCATCCACAGGACACGCCACCCCTCTTCCTGTCACCAGCA CTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACA	p.Pro others(445): Show p.Pro4022delinsLeuSerSerValSerThrGlyAspThrThrProLe uProValThrAspAlaSerSerAlaSerThrGlyHisAlaThrProLeuP roValThrIleProSerSerValSerThrGlyAspThrMetProLeuPro ValThrSerProSerSerAlaSerThrGlyHisAlaThrProLeuProVa lThrGlyLeuSerSerAlaSerThrGlyAspThrThrProLeuProValT hrAspThrSerSerAlaSerThrGlyHisAlaThrProLeuProValThr AspThrSerSerAlaSerThrAspAspThrThrArgLeuProValThrAs pValSerSerAlaSerThrGlyHisAlaThrProLeuProValThrSerT hrSerSerAlaSerThrGlyAspThrThrProLeuProValThrAspThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12176/16756	12064/16239	4022/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779824	G G	GTGGTGTC others(425): Show GTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGCGT GGCGTGACCGGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGG CGTGACCGGTGGATGCTGAGGAAGCGCCGGTGACAGGAAGAGTGCTGGTG TCACCTGTGGATGCTGAGGAAGGGATGGTGACATGAAGAGGGGTGGTGTG ACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTCAC CTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCT GTAGATGCTGAGGAAGTGCTGGTGACAGGAACAGGGGTGGCGTGACCGGT GGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGG ATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp1 HG02451.hp1	a0057 a0057	a0057c0148 a0057c0148	a0057c0148t0008 a0057c0148t0008	a0057c0148t0008g0198 a0057c0148t0008g0198	1	249	0.0040	432	c.117 others(443): Show c.11755_11756insTGCCTCTTCCTGTCACTAGCCCTTCCTCAGCATC CACAGGTCACGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCA CCGGTCACGCCACCCCTGTTCCTGTCACCAGCACTTCCTCAGCATCTACA GGTCACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGG TGACACCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCTACAGGTC ACACCACCCCTCTTCATGTCACCATCCCTTCCTCAGCATCCACAGGTGAC ACCAGCACTCTTCCTGTCACCGGCGCTTCCTCAGCATCCACCGGTCACGC CACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCCACCGGTCACGCCA CGCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCA	p.Thr others(447): Show p.Thr3918_Thr3919insMetProLeuProValThrSerProSerSer AlaSerThrGlyHisAlaThrProLeuProValThrSerThrSerSerAl aSerThrGlyHisAlaThrProValProValThrSerThrSerSerAlaS erThrGlyHisThrThrProLeuProValThrAspThrSerSerAlaSer ThrGlyAspThrThrProLeuProValThrSerProSerSerAlaSerTh rGlyHisThrThrProLeuHisValThrIleProSerSerAlaSerThrG lyAspThrSerThrLeuProValThrGlyAlaSerSerAlaSerThrGly HisAlaThrProLeuProValThrAspThrSerSerValSerThrGlyHi sAlaThrProLeuProValThrSerLeuSerSerValSerThrGlyAspT hr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11867/16756	11755/16239	3919/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779877	G G	GTGACCTG others(425): Show GTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGCACAGGGGTGGTGT CACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGTGTCA CCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGCGTGACC TGTGGATGATGAGGAAGTCTCGGTGACAACAAGAGGGGTGGTGTCACCTG TGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTG TATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGA TGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATG CTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACT GAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02717.hp2 HG02717.hp2	a0055 a0055	a0055c0143 a0055c0143	a0055c0143t0001 a0055c0143t0001	a0055c0143t0001g0007 a0055c0143t0001g0007	1	249	0.0040	432	c.117 others(443): Show c.11702_11703insGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCA GTATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTCCTCAGC ATCCACCGGTCATGCCACCTCTCTTCCTGTCACCGACACTTCCTCAGCAT CCACAGGTGACACCACCTCTCTTCCTGTCACCGACACTTCCTCAGCATAC ACAGGTGACACCACCTCTCTTCCTGTCACCGACACTTCCTCATCATCCAC AGGTGACACCACCCCTCTTGTTGTCACCGAGACTTCCTCATCATCCACAG GTCACGCCACCCCTCTTCATGTCACCGACACTTCCTCAGCATCCACAGGT GACACCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACAGGTGA CACCACCCCTGTGCCTGTCACCGACACTTCCTCAGTATCCACAGGTCA	p.Arg others(447): Show p.Arg3900_His3901insGlnAlaThrProLeuProValThrSerLeu SerSerValSerThrGlyAspThrThrProLeuProValThrSerProSe rSerAlaSerThrGlyHisAlaThrSerLeuProValThrAspThrSerS erAlaSerThrGlyAspThrThrSerLeuProValThrAspThrSerSer AlaTyrThrGlyAspThrThrSerLeuProValThrAspThrSerSerSe rSerThrGlyAspThrThrProLeuValValThrGluThrSerSerSerS erThrGlyHisAlaThrProLeuHisValThrAspThrSerSerAlaSer ThrGlyAspThrThrProLeuHisValThrSerProSerSerAlaSerTh rGlyAspThrThrProValProValThrAspThrSerSerValSerThrG ly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11814/16756	11702/16239	3901/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779877	G G	GTGACCTG others(425): Show GTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGCACAGGGGTGGTGT CACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGTGTCA CCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGCGTGACC TGTGGATGATGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTG TGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTG TATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGA TGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATG CTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACT GAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18906.hp1 NA18906.hp1	a0056 a0056	a0056c0142 a0056c0142	a0056c0142t0007 a0056c0142t0007	a0056c0142t0007g0006 a0056c0142t0007g0006	1	249	0.0040	432	c.117 others(443): Show c.11702_11703insGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCA GTATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTCCTCAGC ATCCACCGGTCATGCCACCTCTCTTCCTGTCACCGACACTTCCTCAGCAT CCACAGGTGACACCACCTCTCTTCCTGTCACCGACACTTCCTCAGCATAC ACAGGTGACACCACCTCTCTTCCTGTCACCGACACTTCCTCATCATCCAC AGGTGACACCACCCCTCTTCTTGTCACCGAGACTTCCTCATCATCCACAG GTCACGCCACCCCTCTTCATGTCACCGACACTTCCTCAGCATCCACAGGT GACACCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACAGGTGA CACCACCCCTGTGCCTGTCACCGACACTTCCTCAGTATCCACAGGTCA	p.Arg others(447): Show p.Arg3900_His3901insGlnAlaThrProLeuProValThrSerLeu SerSerValSerThrGlyAspThrThrProLeuProValThrSerProSe rSerAlaSerThrGlyHisAlaThrSerLeuProValThrAspThrSerS erAlaSerThrGlyAspThrThrSerLeuProValThrAspThrSerSer AlaTyrThrGlyAspThrThrSerLeuProValThrAspThrSerSerSe rSerThrGlyAspThrThrProLeuLeuValThrGluThrSerSerSerS erThrGlyHisAlaThrProLeuHisValThrAspThrSerSerAlaSer ThrGlyAspThrThrProLeuHisValThrSerProSerSerAlaSerTh rGlyAspThrThrProValProValThrAspThrSerSerValSerThrG ly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11814/16756	11702/16239	3901/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779967	G G	GGTGGCGT others(425): Show GGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGCACAGGGG TGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAAGAAGAGGAGTG GCGTGACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGT GTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGT CACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCA CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACC GGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTG TGGATACTGAGGAAAGGCTGGTGAGAGGAAGAGGGGTGGCCTGACCTGTG GATGCTGAGGAAGCGTCGGTGACAAGAAGAGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02451.hp1 HG02451.hp1	a0057 a0057	a0057c0148 a0057c0148	a0057c0148t0008 a0057c0148t0008	a0057c0148t0008g0198 a0057c0148t0008g0198	1	249	0.0040	432	c.116 others(443): Show c.11612_11613insTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCC ACAGGTCAGGCCACCCCTCTTCCTCTCACCAGCCTTTCCTCAGTATCCAC AGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACCG GTCATGCCACCTCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGT GACACCACCTCTCTTCCTGTCACCGACACTTCCTCAGCATACACAGGTGA CACCACCTCTCTTCCTGTCACCGACACTTCCTCATCATCCACAGGTGACA CCACCCCTCTTCTTGTCACCGAGACTTCCTCAGTATCCACAGGTCACGCC ACTCCTCTTCTTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCAC CCCTGTGCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCAC	p.Thr others(447): Show p.Thr3871_Pro3872insProLeuLeuValThrAspAlaSerSerAla SerThrGlyGlnAlaThrProLeuProLeuThrSerLeuSerSerValSe rThrGlyAspThrThrProLeuProValThrSerProSerSerAlaSerT hrGlyHisAlaThrSerLeuProValThrAspThrSerSerAlaSerThr GlyAspThrThrSerLeuProValThrAspThrSerSerAlaTyrThrGl yAspThrThrSerLeuProValThrAspThrSerSerSerSerThrGlyA spThrThrProLeuLeuValThrGluThrSerSerValSerThrGlyHis AlaThrProLeuLeuValThrAspThrSerSerAlaSerThrGlyHisAl aThrProValProValThrAspThrSerSerValSerThrGlyHisAlaT hr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11724/16756	11612/16239	3871/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195780725	C C	CAGGAAGA others(425): Show CAGGAAGAGAGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACA GGAAGAGGCGTGGTGTCACCTGTTGATACTGAGGAAAGGCTGGTGACAGG AAGAGGGGTGGCCTGACCTGTGGATGCCGAGGAAGCGTCGGTGACAGGAA GAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGA GGCGTGGCGTGACCGGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGG GGTGGCGTGACCGGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGG TGGTGTCACCTGTGGATACTGAGGAAAAGCTGGTGACAGGAAGAGGGGTG GCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGTCGTGGT GTCACCTGTGGATACTGAGGAAAGGCTGGTGAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18947.hp2 NA20300.hp1 NA18947.hp2 NA20300.hp1	a0077 a0184 a0077 a0184	a0077c0169 a0184c0126 a0077c0169 a0184c0126	a0077c0169t0013 a0184c0126t0001 a0077c0169t0013 a0184c0126t0001	a0077c0169t0013g0184 a0184c0126t0001g0089 a0077c0169t0013g0184 a0184c0126t0001g0089	2	249	0.0080	432	c.108 others(443): Show c.10854_10855insCTCACCAGCCTTTCCTCAGTATCCACAGGTGACA CCACGACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCC ACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCAC CCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGTCACGCCACCC CTCTTCCTGTCACCGACACTTCCTCAGTATCCACCGGTCACGCCACGCCT CTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCT TCCTGTCACCGACGCTTCCTCGGCATCCACAGGTCAGGCCACCCCTCTTC CTGTCACCAGCCTTTCCTCAGTATCAACAGGTGACACCACGCCTCTTCCT GTCACCATCCCTTCCTCAGCATCCTCAGGTCACACCACCTCTCTTCCT	p.Pro others(447): Show p.Pro3618_Val3619insLeuThrSerLeuSerSerValSerThrGly AspThrThrThrLeuProValThrAspThrSerSerValSerThrGlyHi sAlaThrProLeuProValThrSerPheSerSerValSerThrGlyAspT hrThrProLeuProValThrAspAlaSerSerAlaSerThrGlyHisAla ThrProLeuProValThrAspThrSerSerValSerThrGlyHisAlaTh rProLeuProValThrSerLeuSerSerValSerThrGlyAspThrThrP roLeuProValThrAspAlaSerSerAlaSerThrGlyGlnAlaThrPro LeuProValThrSerLeuSerSerValSerThrGlyAspThrThrProLe uProValThrIleProSerSerAlaSerSerGlyHisThrThrSerLeuP ro	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	10966/16756	10854/16239	3618/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195781775	C C	CGGTGACA others(425): Show CGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTG GTGACAGGAAGAGGGGTGGTGTCCCCTGTGGATAATGAGGAAGCATCGGT GACATGAAGAGCGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGA CAAGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACA GGAAGAGGCGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAAG AAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAA GAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGA GGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTGGTGACAGGAAGAGG GGTGGTGTGACCTGAGGATGATGAGGAAGGGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp1 HG02451.hp1	a0057 a0057	a0057c0148 a0057c0148	a0057c0148t0008 a0057c0148t0008	a0057c0148t0008g0198 a0057c0148t0008g0198	1	249	0.0040	432	c.980 others(441): Show c.9804_9805insATCCCTTCCTCATCATCCTCAGGTCACACCACCCCT CTTCCTGTCACCAGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCT TCATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGTCACCCCTCTTC CTGTCACCAGCACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCTT GTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACGCCTCTTCCTGT CACCGACGCTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCTTGTCA CCGACGCTTCCTCAGTATCCACAGGTCACGCCACCGCTCTTCATGTCACC GATGCTTCCTCATTATCCACAGGGGACACCACCCCTCTTCCTGTCACCAG CCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACC	p.Thr others(447): Show p.Thr3268_Asp3269insIleProSerSerSerSerSerGlyHisThr ThrProLeuProValThrSerThrSerSerValSerThrGlyHisValTh rProLeuHisValThrSerProSerSerAlaSerThrGlyHisValThrP roLeuProValThrSerThrSerSerAlaSerThrGlyHisAlaThrPro LeuLeuValThrAspAlaSerSerValSerThrGlyHisAlaThrProLe uProValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuL euValThrAspAlaSerSerValSerThrGlyHisAlaThrAlaLeuHis ValThrAspAlaSerSerLeuSerThrGlyAspThrThrProLeuProVa lThrSerProSerSerAlaSerThrGlyAspThrThrProLeuProValT hr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	9916/16756	9804/16239	3268/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784939	G G	GCGCCGGT others(425): Show GCGCCGGTGACAGGAAGAGTGCTGGTGTCACCTGTGGATGCTGAGGAAGG GATGGTGACATGAAGAGAGGTGGTGTGACCTGTAGATGCTGAGGAAGGGC TGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCG GTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGTGCTGGT GACAGGAACAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGTGCTGGTGA CAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACA GGAAGAGGCATGGTGTCACCTGTGGATACTGAGGAAGTGTTGGTGACAGG AAGAGGGGTGGCCTGACCTGTGGATGCCGAGGAAATGTCGGTGACAGGAA GACGGGTGGTGTCACCTGTGGAAGCTGAGGAAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02486.hp1 HG02486.hp1	a0050 a0050	a0050c0147 a0050c0147	a0050c0147t0004 a0050c0147t0004	a0050c0147t0004g0231 a0050c0147t0004g0231	1	249	0.0040	432	c.664 others(441): Show c.6640_6641insTTTCCTCAGCTTCCACAGGTGACACCACCCGTCTTC CTGTCACCGACATTTCCTCGGCATCCACAGGTCAGGCCACCCCTCTTCCT GTCACCAACACTTCCTCAGTATCCACAGGTGACACCATGCCTCTTCCTGT CACTAGCCCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCA CCAGCACTTCCTCAGCATCCACCGGTCACGCCACCCCTGTTCCTGTCACC AGCACTTCCTCAGCATCTACAGGTCACACCACCCCTCTTCCTGTCACCGA CACTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCAGCC CTTCCTCAGCATCTACAGGTCACACCACCTCTCTTCATGTCACCATCCCT TCCTCAGCATCCACAGGTGACACCAGCACTCTTCCTGTCACCGGCG	p.Pro others(445): Show p.Pro2214delinsLeuSerSerAlaSerThrGlyAspThrThrArgLe uProValThrAspIleSerSerAlaSerThrGlyGlnAlaThrProLeuP roValThrAsnThrSerSerValSerThrGlyAspThrMetProLeuPro ValThrSerProSerSerAlaSerThrGlyHisAlaThrProLeuProVa lThrSerThrSerSerAlaSerThrGlyHisAlaThrProValProValT hrSerThrSerSerAlaSerThrGlyHisThrThrProLeuProValThr AspThrSerSerAlaSerThrGlyAspThrThrProLeuProValThrSe rProSerSerAlaSerThrGlyHisThrThrSerLeuHisValThrIleP roSerSerAlaSerThrGlyAspThrSerThrLeuProValThrGlyAla	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	6752/16756	6640/16239	2214/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195785314	A A	ACTGAGGA others(425): Show ACTGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC TGAGGAAGCGTCGGTGACAAGAAGAGGGGTGGCGTGACCTGTGGATGCTG AGGAAGTGCTGGTGACAGGAAGAGGGGTGACGTGACCTGTGGATGCTGAG GAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACTGAGGA AGTGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGATGAGGAAG GGATGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTG TCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCT AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGG TGAGAGGAAGAGGGGTGGCCTGACCTGTGGATG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03688.hp1 HG03688.hp1	a0081 a0081	a0081c0189 a0081c0189	a0081c0189t0011 a0081c0189t0011	a0081c0189t0011g0206 a0081c0189t0011g0206	1	249	0.0040	432	c.626 others(441): Show c.6265_6266insCATCCACAGGTCAGGCCACCCCTCTTCCTCTCACCA GCCTTTCCTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGC CCTTCCTCAGCATCCACCGGTCATGCCACCTCTCTTCCTGTCACCGACAC TTCCTCAGCATCCACAGGTGACACCACCTCTCTTCCTGTCACCATCCCTT CCTCATCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCAGCACTTCC TCAGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTC AGCATCCACAGGTCACGTCACCCCTCTTCCTGTCACCAGCACTTCCTCAG CATCCACAGGTCACGCCACCCCTCTTCTTGTCACCGACGCTTCCTCAGTG TCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTCAG	p.Ile others(445): Show p.Ile2089delinsThrSerThrGlyGlnAlaThrProLeuProLeuTh rSerLeuSerSerValSerThrGlyAspThrThrProLeuProValThrS erProSerSerAlaSerThrGlyHisAlaThrSerLeuProValThrAsp ThrSerSerAlaSerThrGlyAspThrThrSerLeuProValThrIlePr oSerSerSerSerSerGlyHisThrThrProLeuProValThrSerThrS erSerValSerThrGlyHisValThrProLeuHisValThrSerProSer SerAlaSerThrGlyHisValThrProLeuProValThrSerThrSerSe rAlaSerThrGlyHisAlaThrProLeuLeuValThrAspAlaSerSerV alSerThrGlyHisAlaThrProLeuProValThrAspAlaSerSerVal	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	6377/16756	6265/16239	2089/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195785567	C C	CGGTGACA others(425): Show CGGTGACAAGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTG GTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGGGCTGGT GACATGAAGAGGGGTGGCGTGTCCTGTGGATGCTGAGGAAGGGCTGGTGA CAGGAAGAGAGGTGGCGTGGCCTGTGGATACTGAGGAAGTGTCGGTGACA GGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAGG AAGAGGGGTGGTGTCACCTGTGGATAATGAGGAAGCATCGGTGACATGAA GAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGA GAGGTGGCGTGACCTGTAGATACTGAGGAAGTGTCGGTGACAGGAAGAGG GGTGGCGTGACCTGTGGATGCTGAGGAAAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18906.hp1 NA18906.hp1	a0056 a0056	a0056c0142 a0056c0142	a0056c0142t0007 a0056c0142t0007	a0056c0142t0007g0006 a0056c0142t0007g0006	1	249	0.0040	432	c.601 others(441): Show c.6012_6013insAGCCTTTCCTCAGCATCCACAGGTCACGCCACCCCT CTTCCTGTCACCGACACTTCCTCAGTATCTACAGGTCACGCCACCTCTCT TCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTC ATGTCACCGATGCTTCCTCATTATCCACAGGTGACACCACCCCTCTTCCT GTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGT CACCGACACTTCCTCAGTATCCACAGGCCACGCCACCTCTCTTCCTGTCA CCAGCCCTTCCTCAGCATCCACAGGACACGCCACCCCTCTTCATGTCACC AGCCCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAG CCCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCTTGTCACC	p.Thr others(447): Show p.Thr2004_Asp2005insSerLeuSerSerAlaSerThrGlyHisAla ThrProLeuProValThrAspThrSerSerValSerThrGlyHisAlaTh rSerLeuLeuValThrAspAlaSerSerValSerThrGlyHisAlaThrP roLeuHisValThrAspAlaSerSerLeuSerThrGlyAspThrThrPro LeuProValThrSerProSerSerAlaSerThrGlyAspThrThrProLe uProValThrAspThrSerSerValSerThrGlyHisAlaThrSerLeuP roValThrSerProSerSerAlaSerThrGlyHisAlaThrProLeuHis ValThrSerProSerSerAlaSerThrGlyGlnAlaThrProLeuProVa lThrSerProSerSerAlaSerThrGlyHisAlaThrProLeuLeuValT hr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	6124/16756	6012/16239	2004/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195786959	T T	TGGTGACA others(425): Show TGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCG GTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGT GAGAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGA CAGGAAGAGGGGTAGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACA GGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGG AAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAA GAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGC GAGGTGGCGTGACCTGTGAACACTGAGGAAGCGTCGGTGACAGGAAGAGA GGTGGCGTGACCTGTGGACACTGACGAAGCGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp1	a0156 a0156	a0156c0106 a0156c0106	a0156c0106t0001 a0156c0106t0001	a0156c0106t0001g0144 a0156c0106t0001g0144	1	249	0.0040	432	c.462 others(441): Show c.4620_4621insGACGCTTCGTCAGTGTCCACAGGTCACGCCACCTCT CTTCCTGTCACCGACGCTTCCTCAGTGTTCACAGGTCACGCCACCTCGCT TCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACACCACCCCTCTTC CTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCT GTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCCCTCTTCCTGT CACCGACGCTTCCTCAGTGTCCACAGGTCACGCTACCCCTCTTCCTGTCA CCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTCTCACC AGCCTTTCCTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACCGA CACTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACC	p.Thr others(447): Show p.Thr1540_Ser1541insAspAlaSerSerValSerThrGlyHisAla ThrSerLeuProValThrAspAlaSerSerValPheThrGlyHisAlaTh rSerLeuProValThrIleProSerSerAlaSerSerGlyHisThrThrP roLeuProValThrAspAlaSerSerValSerThrGlyHisAlaThrSer LeuProValThrAspAlaSerSerValSerThrGlyHisAlaThrProLe uProValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuP roValThrAspThrSerSerValSerThrGlyHisAlaThrProLeuPro LeuThrSerLeuSerSerValSerThrGlyAspThrThrProLeuProVa lThrAspThrSerSerAlaSerThrGlyGlnAlaThrProLeuProValT hr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4732/16756	4620/16239	1540/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195787309	G G	GAGGTGGC others(425): Show GAGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGA GGTGGTGTGACGTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGG TGGTGTCACCTGTGGATGCTGAGGGAGTGTCGGTGACAGGTAGAGGGGTG GTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGACGGGTGGT GTCACCTGTGGATACTGACGAAGCGTCGGTGACAAGAAGAGGGGTGGTGT GACCTGTGGATACTGAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGTCA CCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCATGACC TGTGGATGCCGAGGAAACGTTGGTGACAGGAAGACGGGTGGTGTCACCTG TGGAAGCTGAGGAAAGGCCGGTGACAGGAAGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG02895.hp2 HG04199.hp2 HG00099.hp1 HG02895.hp2 HG04199.hp2	a0074 a0076 a0156 a0074 a0076 a0156	a0074c0167 a0076c0168 a0156c0106 a0074c0167 a0076c0168 a0156c0106	a0074c0167t0001 a0076c0168t0001 a0156c0106t0001 a0074c0167t0001 a0076c0168t0001 a0156c0106t0001	a0074c0167t0001g0067 a0076c0168t0001g0082 a0156c0106t0001g0144 a0074c0167t0001g0067 a0076c0168t0001g0082 a0156c0106t0001g0144	3	249	0.0121	432	c.427 others(441): Show c.4270_4271insATCTTCCTGTCACCGGCCTTTCCTCAGCTTCCACAG GTGACACCACCCGTCTTCCTGTCACCAACGTTTCCTCGGCATCCACAGGT CATGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGTGA CACCACCCCTCTTCCTGGCACCGACACTTCCTCAGTATCCACAGGTCACA CCACCCCTCTTCTTGTCACCGACGCTTCGTCAGTATCCACAGGTGACACC ACCCGTCTTCCTGTCACCAGCCCTTCCTCAGCATCTACAGGTCACACCAC CCCTCTACCTGTCACCGACACTCCCTCAGCATCCACAGGTGACACCACCC CTCTTCCTGTCACCAATGCTTCCTCATTATCCACACGTCACACCACCTCT CTTCATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGCCACCT	p.Pro others(445): Show p.Pro1424delinsHisLeuProValThrGlyLeuSerSerAlaSerTh rGlyAspThrThrArgLeuProValThrAsnValSerSerAlaSerThrG lyHisAlaThrProLeuProValThrSerThrSerSerAlaSerThrGly AspThrThrProLeuProGlyThrAspThrSerSerValSerThrGlyHi sThrThrProLeuLeuValThrAspAlaSerSerValSerThrGlyAspT hrThrArgLeuProValThrSerProSerSerAlaSerThrGlyHisThr ThrProLeuProValThrAspThrProSerAlaSerThrGlyAspThrTh rProLeuProValThrAsnAlaSerSerLeuSerThrArgHisThrThrS erLeuHisValThrSerProSerSerAlaSerThrGlyHisAlaThrSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4382/16756	4270/16239	1424/5412			chr3	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(425): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATATATATTTATATATAAGTATATATATATATTTATATATA AGTATATATATATATTTATATATAAGTATATATATAAATATATATATTTA TATATAAGTATATATATATTTATATATAAGTATATATAAATATATATATT TATATATAAGTGTATATATATAAATATATATATTTATATATAAGTATATA TAAATATATATATTTATATATAAGTATATATAAATATATATATTTATATA TAAGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATA TATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATA TAAATATATATTTAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0091 a0001c0001t0030g0091	1	326	0.0031	432	c.358 others(449): Show c.358+3444_358+3445insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATATATATTTATATATAAGTATATATATATA TTTATATATAAGTATATATATATATTTATATATAAGTATATATATAAATA TATATATTTATATATAAGTATATATATATTTATATATAAGTATATATAAA TATATATATTTATATATAAGTGTATATATATAAATATATATATTTATATA TAAGTATATATAAATATATATATTTATATATAAGTATATATAAATATATA TATTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATA TAAATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATA TAAGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATA TTTA		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(425): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 NA19001.hp2 NA19067.hp1 HG01358.hp1 NA19001.hp2 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0020 a0001c0002t0002 a0001c0002t0020	a0001c0002t0002g0004 a0001c0002t0002g0011 a0001c0002t0020g0022 a0001c0002t0002g0004 a0001c0002t0002g0011 a0001c0002t0020g0022	3	350	0.0086	432	c.-28 others(443): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATAT AAAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC		MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding					2793		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(425): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	350	0.0029	432	c.-28 others(443): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATC		MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding					2793		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(425): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	350	0.0029	432	c.-28 others(443): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATATCAT ATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATC		MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding					2793		chr3	TogoVar
MYO1F_chr19_8515778_8582442	8543894	G G	GTGGTGGT others(425): Show GTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTG GTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGG TGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGT GCTGGTGCTGGTGCTGGTGGTGGTGCTGGTGGTGGCGGTGGCGGTGGCGG TGGCGGTGGCGGTGGCGGTGGCGGTGGCGGTGC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	342	0.0029	432	c.152 others(449): Show c.1524+402_1524+403insGCACCGCCACCGCCACCGCCACCGCCAC CGCCACCGCCACCGCCACCGCCACCACCAGCACCACCACCAGCACCAGCA CCAGCACCACCACCACCACCACCACCAGCACCACCAGCACCACCACCACC ACCACCACCACCACCACCACCACCACCACCAGCACCACCACCACCACCAC CAGCACCACCAGCACCACCAGCACCACCACCACCACCACCAGCACCACCA GCACCACCACCACCACCACCACCACCACCACCACCAGCACCACCAGCACC ACCACCACCACCACCAGCACCACCAGCACCACCACCACCACCACCACCAC CACCACCACCACCACCACCAGCACCACCACCACCACCACCACCACCACCA CCACCAGCACCACCAGCACCACCACCACCACCACCAGCACCACCAGCACC ACCA		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
NBDY_chrX_56724243_56824179	56725501	G G	GTAACAAT others(425): Show GTAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATAT TGTTATATATACATATAACAATATTGTTATATTGTTATATATACATATAA CAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTT ATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAAT ATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATAT ATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATTG TTATATATACATATAACAATATTGTTATATTGTTATATATACATATAACA ATATTGTTATATTGTTATATATACATATAACAATATTGTTATATATACAT ATAACAATATTGTTATATTGTTATATATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02886.hp2 HG03579.hp1 HG02818.hp2 HG02886.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0016 a0001c0001t0003g0025 a0001c0001t0003g0026	3	160	0.0188	432	c.-38 others(443): Show c.-3853_-3852insTAACAATATTGTTATATTGTTATATATACATATA ACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGT TATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAA TATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATA TATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATT GTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATATATA CATATAACAATATTGTTATATATACATATAACAATATTGTTATATTGTTA TATATACATATAACAATATTGTTATATTGTTATATATACATATAACAATA TTGTTATATATACATATAACAATATTGTTATATTGTTATATATACATA		NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding					3741		chrX	TogoVar
NBDY_chrX_56724243_56824179	56725501	G G	GTAACAAT others(425): Show GTAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATAT TGTTATATATACATATAACAATATTGTTATATTGTTATATATACATATAA CAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTT ATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAAT ATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATAT ATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATTG TTATATTGTTATATATACATATAACAATATTGTTATATATACATATAACA ATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTAT ATATACATATAACAATATTGTTATATATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	160	0.0063	432	c.-38 others(443): Show c.-3853_-3852insTAACAATATTGTTATATTGTTATATATACATATA ACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGT TATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAA TATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATA TATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATT GTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATATATA CATATAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTA TATATACATATAACAATATTGTTATATTGTTATATATACATATAACAATA TTGTTATATTGTTATATATACATATAACAATATTGTTATATATACATA		NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding					3741		chrX	TogoVar

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Search Results (Total: 10000 hits)