Joint Open Genome and Omics Platform (JoGo)

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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYO9A_chr15_71817291_72123150	71975390	C C	CGTGTGTG others(29): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03540.hp1 NA18946.hp2 others(1): Show HG03130.hp1 HG03540.hp1 NA18946.hp2 NA18947.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0011 a0008c0009 a0001c0002 a0001c0011 a0008c0009	a0001c0002t0007 a0001c0011t0007 a0008c0009t0024 others(1): Show a0001c0002t0007 a0001c0011t0007 a0008c0009t0024 a0008c0009t0050	a0001c0002t0007g0015 a0001c0011t0007g0013 a0008c0009t0024g0270 others(1): Show a0001c0002t0007g0015 a0001c0011t0007g0013 a0008c0009t0024g0270 a0008c0009t0050g0267	4	308	0.0130	36	c.184 others(55): Show c.1844+2745_1844+2780dupACACACACACACACACACACACACAC ACACACACAC	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	12/41			chr15	TogoVar
MYO9B_chr19_17070777_17218286	17121444	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0002 a0008c0023t0002	a0008c0023t0002g0041 a0008c0023t0002g0041	1	262	0.0038	36	c.840 others(55): Show c.840+18907_840+18908insATATATATATATATATATATATATAT ATATATATAT	MYO9B	ENSG00000099331.14	transcript	ENST00000682292.1	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp1 HG01952.hp1 others(12): Show HG00741.hp1 HG01255.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02818.hp1 HG03139.hp2 HG03491.hp1 HG03669.hp2 HG04228.hp2 NA19066.hp1 NA19066.hp2 NA19084.hp1	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0023	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0011 a0013c0027 a0023c0056	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0002c0011t0002 a0013c0027t0001 a0023c0056t0002	a0001c0001t0001g0152 a0001c0001t0002g0192 a0001c0001t0002g0202 others(12): Show a0001c0001t0001g0152 a0001c0001t0002g0192 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0162 a0001c0002t0002g0216 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0153 a0002c0011t0002g0191 a0013c0027t0001g0050 a0023c0056t0002g0172	15	240	0.0625	36	c.200 others(55): Show c.2001+1169_2001+1170insTATATATATATATATATATATATATA TATACACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(29): Show GTGTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01175.hp2 HG00423.hp2 HG01175.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0022 a0001c0001 a0012c0022	a0001c0001t0001 a0012c0022t0001 a0001c0001t0001 a0012c0022t0001	a0001c0001t0001g0154 a0012c0022t0001g0055 a0001c0001t0001g0154 a0012c0022t0001g0055	2	240	0.0083	36	c.200 others(55): Show c.2001+1169_2001+1170insTATATATATATATATATATATATATA TACACACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0014 a0001c0015t0001g0014	1	240	0.0042	36	c.200 others(55): Show c.2001+1169_2001+1170insTATATATATATATATATATATATACA CACACACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93406286	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	240	0.0042	36	c.730 others(53): Show c.730-2068_730-2067insTATATATATATATATATATATATATATA TATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93406288	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02132.hp2 HG03471.hp2 others(6): Show HG00621.hp1 HG02132.hp2 HG03471.hp2 HG04228.hp1 NA18962.hp1 NA18974.hp1 NA18990.hp1 NA19084.hp2 NA20752.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0017c0033	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0005t0002 a0017c0033t0002	a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0143 others(6): Show a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0002g0219 a0001c0002t0001g0038 a0001c0002t0001g0108 a0001c0002t0002g0210 a0001c0005t0002g0175 a0017c0033t0002g0181	9	240	0.0375	36	c.730 others(53): Show c.730-2070_730-2069insTATATATATATATATATATATATATATA TATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478836	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	240	0.0042	36	c.88+ others(51): Show c.88+3270_88+3271insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93482845	T T	TTATATAT others(29): Show TTATATATATATATATAATTTTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0089 a0001c0021t0001g0089	1	240	0.0042	36	c.-65 others(45): Show c.-652_-651insTATATATATATATATAAAATTATATATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		512		chr10	TogoVar
MYOF_chr10_93301429_93487334	93482855	A A	ATATAAAT others(29): Show ATATAAATAATTATATATATATATATATATAAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0004 a0003c0007t0001g0004	1	240	0.0042	36	c.-66 others(45): Show c.-662_-661insATTATTTATATATATATATATATATAATTATTTATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		522		chr10	TogoVar
MYOF_chr10_93301429_93487334	93483368	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0035 a0001c0003t0001g0035	1	240	0.0042	36	c.-11 others(47): Show c.-1175_-1174insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		1035		chr10	TogoVar
MYOM1_chr18_3061807_3224968	3193349	T T	TATGTATA others(29): Show TATGTATATGTACATATACATATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02486.hp1 others(8): Show HG02109.hp1 HG02109.hp2 HG02486.hp1 HG02647.hp2 HG02717.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03225.hp1 HG03486.hp2 NA18522.hp2	a0002 a0004 a0008 others(3): Show a0002 a0004 a0008 a0011 a0033 a0067	a0002c0015 a0002c0146 a0002c0186 others(7): Show a0002c0015 a0002c0146 a0002c0186 a0002c0187 a0004c0046 a0008c0041 a0011c0042 a0011c0121 a0033c0071 a0067c0134	a0002c0015t0001 a0002c0146t0001 a0002c0186t0001 others(8): Show a0002c0015t0001 a0002c0146t0001 a0002c0186t0001 a0002c0187t0001 a0004c0046t0001 a0008c0041t0001 a0011c0042t0003 a0011c0042t0007 a0011c0121t0007 a0033c0071t0003 a0067c0134t0009	a0002c0015t0001g0179 a0002c0146t0001g0135 a0002c0186t0001g0011 others(8): Show a0002c0015t0001g0179 a0002c0146t0001g0135 a0002c0186t0001g0011 a0002c0187t0001g0010 a0004c0046t0001g0180 a0008c0041t0001g0161 a0011c0042t0003g0023 a0011c0042t0007g0020 a0011c0121t0007g0178 a0033c0071t0003g0172 a0067c0134t0009g0022	11	330	0.0333	36	c.431 others(51): Show c.431+468_431+469insGTATATGTATATATATATGTATATGTACAT ATACAT	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	3/37			chr18	TogoVar
MYOM2_chr8_2040046_2150456	2100117	C C	CTTCCTTC others(29): Show CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18957.hp1 NA18949.hp1 NA18957.hp1	a0002 a0005 a0002 a0005	a0002c0048 a0005c0005 a0002c0048 a0005c0005	a0002c0048t0003 a0005c0005t0002 a0002c0048t0003 a0005c0005t0002	a0002c0048t0003g0128 a0005c0005t0002g0301 a0002c0048t0003g0128 a0005c0005t0002g0301	2	403	0.0050	36	c.244 others(53): Show c.2441-752_2441-751insTTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	19/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2100121	C C	CTTCTTTC others(29): Show CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0001 a0002c0041t0001	a0002c0041t0001g0084 a0002c0041t0001g0084	1	403	0.0025	36	c.244 others(53): Show c.2441-752_2441-751insTTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCTTTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	19/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2120685	T T	TATATATA others(29): Show TATATATATATAATATATATATAAATATATATTTATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01981.hp1 HG02132.hp2 others(4): Show HG00423.hp1 HG01981.hp1 HG02132.hp2 HG02165.hp2 NA18970.hp1 NA18994.hp1 NA19066.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0010 a0015	a0001c0003 a0003c0001 a0005c0005 others(4): Show a0001c0003 a0003c0001 a0005c0005 a0005c0090 a0006c0013 a0010c0056 a0015c0057	a0001c0003t0001 a0003c0001t0001 a0005c0005t0001 others(4): Show a0001c0003t0001 a0003c0001t0001 a0005c0005t0001 a0005c0090t0002 a0006c0013t0005 a0010c0056t0002 a0015c0057t0001	a0001c0003t0001g0348 a0003c0001t0001g0235 a0005c0005t0001g0293 others(4): Show a0001c0003t0001g0348 a0003c0001t0001g0235 a0005c0005t0001g0293 a0005c0090t0002g0339 a0006c0013t0005g0146 a0010c0056t0002g0159 a0015c0057t0001g0156	7	403	0.0174	36	c.345 others(55): Show c.3454-2564_3454-2563insTATATATAATATATATATAAATATAT ATTTATAATA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2120685	T T	TATATATA others(29): Show TATATATATATAATATATATATAAATATCTATTTATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0006 a0002c0006t0001g0006	1	403	0.0025	36	c.345 others(55): Show c.3454-2564_3454-2563insTATATATAATATATATATAAATATCT ATTTATAATA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2127607	G G	GGCAGGCA others(29): Show GGCAGGCAGTACCTCGGCGTGACGCGGTGACGCAGCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0001 a0001c0065t0001	a0001c0065t0001g0125 a0001c0065t0001g0125	1	403	0.0025	36	c.369 others(55): Show c.3695-1511_3695-1476dupTACCTCGGCGTGACGCGGTGACGCAG CCGCAGGCAG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	31/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2127647	G G	GGCAGGCA others(29): Show GGCAGGCAGTACCTCGGCGTGACGCGGTGACGCAGCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02071.hp2 NA19077.hp2 HG00408.hp2 HG02071.hp2 NA19077.hp2	a0022 a0041 a0043 a0022 a0041 a0043	a0022c0066 a0041c0210 a0043c0212 a0022c0066 a0041c0210 a0043c0212	a0022c0066t0005 a0041c0210t0001 a0043c0212t0001 a0022c0066t0005 a0041c0210t0001 a0043c0212t0001	a0022c0066t0005g0274 a0041c0210t0001g0153 a0043c0212t0001g0008 a0022c0066t0005g0274 a0041c0210t0001g0153 a0043c0212t0001g0008	3	403	0.0074	36	c.369 others(55): Show c.3695-1471_3695-1436dupTACCTCGGCGTGACGCGGTGACGCAG CCGCAGGCAG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	31/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2127727	G G	GGCAGGCA others(29): Show GGCAGGCAGTACCTCGGCGTGACGCGGTGACGCAGCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00609.hp1 others(59): Show HG00280.hp2 HG00438.hp2 HG00609.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02132.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02896.hp2 HG02897.hp1 HG03209.hp2 HG03239.hp1 HG03486.hp1 HG03579.hp1 HG03654.hp2 HG03831.hp2 HG04115.hp1 HG04204.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18983.hp2 NA18993.hp2 NA18997.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19068.hp1 NA19080.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20805.hp1	a0001 a0002 a0007 others(20): Show a0001 a0002 a0007 a0008 a0010 a0012 a0014 a0021 a0023 a0027 a0031 a0035 a0046 a0047 a0048 a0063 a0064 a0066 a0067 a0077 a0079 a0083 a0094	a0001c0128 a0002c0017 a0002c0019 others(33): Show a0001c0128 a0002c0017 a0002c0019 a0002c0034 a0002c0035 a0002c0070 a0007c0010 a0007c0047 a0007c0067 a0007c0089 a0007c0100 a0008c0008 a0010c0196 a0012c0011 a0012c0151 a0014c0044 a0014c0113 a0014c0114 a0014c0139 a0021c0028 a0023c0021 a0027c0053 a0031c0050 a0035c0125 a0035c0170 a0046c0200 a0047c0202 a0048c0195 a0063c0155 a0064c0163 a0066c0079 a0067c0076 a0077c0135 a0079c0136 a0083c0092 a0094c0061	a0001c0128t0001 a0002c0017t0001 a0002c0019t0001 others(33): Show a0001c0128t0001 a0002c0017t0001 a0002c0019t0001 a0002c0034t0001 a0002c0035t0001 a0002c0070t0001 a0007c0010t0001 a0007c0047t0001 a0007c0067t0001 a0007c0089t0001 a0007c0100t0001 a0008c0008t0001 a0010c0196t0001 a0012c0011t0001 a0012c0151t0001 a0014c0044t0001 a0014c0113t0001 a0014c0114t0001 a0014c0139t0001 a0021c0028t0001 a0023c0021t0001 a0027c0053t0001 a0031c0050t0001 a0035c0125t0001 a0035c0170t0001 a0046c0200t0001 a0047c0202t0001 a0048c0195t0001 a0063c0155t0001 a0064c0163t0001 a0066c0079t0001 a0067c0076t0001 a0077c0135t0001 a0079c0136t0001 a0083c0092t0001 a0094c0061t0001	a0001c0128t0001g0386 a0002c0017t0001g0330 a0002c0019t0001g0116 others(57): Show a0001c0128t0001g0386 a0002c0017t0001g0330 a0002c0019t0001g0116 a0002c0019t0001g0138 a0002c0019t0001g0180 a0002c0034t0001g0349 a0002c0035t0001g0080 a0002c0035t0001g0081 a0002c0070t0001g0176 a0007c0010t0001g0100 a0007c0010t0001g0102 a0007c0010t0001g0313 a0007c0010t0001g0314 a0007c0010t0001g0367 a0007c0047t0001g0183 a0007c0047t0001g0184 a0007c0067t0001g0242 a0007c0089t0001g0226 a0007c0100t0001g0337 a0008c0008t0001g0104 a0008c0008t0001g0107 a0008c0008t0001g0111 a0008c0008t0001g0177 a0008c0008t0001g0178 a0008c0008t0001g0179 a0008c0008t0001g0245 a0008c0008t0001g0270 a0010c0196t0001g0092 a0012c0011t0001g0003 a0012c0011t0001g0042 a0012c0011t0001g0224 a0012c0011t0001g0248 a0012c0151t0001g0294 a0014c0044t0001g0234 a0014c0044t0001g0357 a0014c0113t0001g0344 a0014c0114t0001g0381 a0014c0139t0001g0359 a0021c0028t0001g0164 a0021c0028t0001g0172 a0021c0028t0001g0186 a0023c0021t0001g0223 a0023c0021t0001g0354 a0023c0021t0001g0355 a0027c0053t0001g0002 a0031c0050t0001g0103 a0031c0050t0001g0347 a0035c0125t0001g0356 a0035c0170t0001g0275 a0046c0200t0001g0151 a0047c0202t0001g0166 a0048c0195t0001g0093 a0063c0155t0001g0268 a0064c0163t0001g0390 a0066c0079t0001g0017 a0067c0076t0001g0011 a0077c0135t0001g0231 a0079c0136t0001g0171 a0083c0092t0001g0331 a0094c0061t0001g0214	62	403	0.1539	36	c.369 others(55): Show c.3695-1372_3695-1371insACGCAGCCGCAGGCAGTACCTCGGCG TGACGCGGTG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	31/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYRFL_chr12_69820227_69964097	69877001	G G	GTCTTTCT others(29): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA20300.hp1 HG02622.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0005 a0001c0001t0001 a0001c0003t0005	a0001c0001t0001g0254 a0001c0003t0005g0231 a0001c0001t0001g0254 a0001c0003t0005g0231	2	322	0.0062	36	c.138 others(53): Show c.138-2002_138-2001insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69891561	A A	ATTTCTTT others(29): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0184 a0002c0002t0002g0184	1	322	0.0031	36	c.903 others(51): Show c.903+405_903+440dupTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69891635	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp1 HG02723.hp2 HG02970.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0006 a0001c0003 a0003c0006	a0001c0003t0003 a0003c0006t0001 a0001c0003t0003 a0003c0006t0001	a0001c0003t0003g0246 a0003c0006t0001g0090 a0001c0003t0003g0246 a0003c0006t0001g0090	2	322	0.0062	36	c.903 others(51): Show c.903+470_903+471insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69891637	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18994.hp2 HG02083.hp1 NA18994.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0168 a0004c0007t0001g0292 a0001c0001t0001g0168 a0004c0007t0001g0292	2	322	0.0062	36	c.903 others(51): Show c.903+484_903+519dupTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69891682	T T	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCTTTCG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	322	0.0031	36	c.903 others(51): Show c.903+519_903+520insTTTCTTTCTTTCTTTCTTTCGTTCTTTCTT TCGTTC	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	40084776	A A	ATATCTAT others(29): Show ATATCTATGTGTTACATGTCGATAGATAATATATATC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02738.hp1 NA19081.hp1 others(1): Show HG02486.hp1 HG02738.hp1 NA19081.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0003c0007t0001 a0001c0001t0001 a0001c0001t0003 a0003c0007t0001	a0001c0001t0001g0024 a0001c0001t0001g0126 a0001c0001t0003g0046 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0126 a0001c0001t0003g0046 a0003c0007t0001g0130	4	170	0.0235	36	c.332 others(55): Show c.332+40508_332+40509insCTATGTGTTACATGTCGATAGATAAT ATATATCTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40192315	T T	TATATGAC others(29): Show TATATGACATATATATATATATATATATATATATGTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00735.hp2 others(25): Show HG00099.hp1 HG00323.hp1 HG00735.hp2 HG01074.hp1 HG01123.hp2 HG01168.hp1 HG01884.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02109.hp2 HG02258.hp1 HG02572.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03490.hp1 NA18522.hp1 NA18747.hp1 NA18970.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0018 a0001c0002t0002 a0001c0001t0003 a0001c0001t0018 a0001c0002t0002	a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0041 others(25): Show a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0082 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0018g0095 a0001c0002t0002g0001 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0030 a0001c0002t0002g0043 a0001c0002t0002g0065 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0141 a0001c0002t0002g0144 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0158	28	170	0.1647	36	c.166 others(55): Show c.1665+1856_1665+1857insGACATATATATATATATATATATATA TATGTCATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYSM1_chr1_58649743_58705062	58651407	A A	AGTGTGTG others(29): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02572.hp2 NA19009.hp1 HG00621.hp2 HG02572.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0050 a0001c0001t0001 a0001c0001t0009 a0001c0001t0050	a0001c0001t0001g0180 a0001c0001t0009g0215 a0001c0001t0050g0202 a0001c0001t0001g0180 a0001c0001t0009g0215 a0001c0001t0050g0202	3	410	0.0073	36	c.85 others(47): Show c.8589_*8590insACACACACACACACACACACACACACACACACAC AC	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3335		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0326 a0001c0001t0054g0326	1	410	0.0024	36	c.68+ others(51): Show c.68+1882_68+1883insAATATATATATATATATATATATATATATA TATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0071 a0004c0004t0071	a0004c0004t0071g0035 a0004c0004t0071g0035	1	410	0.0024	36	c.68+ others(51): Show c.68+1882_68+1883insAAAAAAAAAAAATATATATATATATATATA TATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0024 a0004c0004t0024	a0004c0004t0024g0032 a0004c0004t0024g0032	1	410	0.0024	36	c.68+ others(51): Show c.68+1882_68+1883insAAAAAAAAAAAAAATATATATATATATATA TATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG04199.hp2 HG02055.hp1 HG04199.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0014 a0004c0004t0024 a0002c0002t0014 a0004c0004t0024	a0002c0002t0014g0111 a0004c0004t0024g0030 a0002c0002t0014g0111 a0004c0004t0024g0030	2	410	0.0049	36	c.68+ others(51): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAATATATATATATATA TATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(29): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18947.hp1 NA18994.hp1 others(1): Show HG01884.hp1 NA18947.hp1 NA18994.hp1 homoSapiens_chm13v2.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0002 a0002c0002t0005 a0006c0007t0025 a0002c0002t0002 a0002c0002t0005 a0006c0007t0025	a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0005g0085 others(1): Show a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0005g0085 a0006c0007t0025g0047	4	410	0.0098	36	c.68+ others(51): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAATATATATATATA TATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(29): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18946.hp1 NA18948.hp2 HG01361.hp1 NA18946.hp1 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0014 a0002c0002t0074 a0002c0002t0002 a0002c0002t0014 a0002c0002t0074	a0002c0002t0002g0058 a0002c0002t0014g0059 a0002c0002t0074g0057 a0002c0002t0002g0058 a0002c0002t0014g0059 a0002c0002t0074g0057	3	410	0.0073	36	c.68+ others(51): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAAAATATATATATA TATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1L_chr2_1784113_2336275	1934307	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	104	0.0096	36	c.505 others(53): Show c.505+8674_505+8675insGTGTGTATATATATATATATATATATAT ATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	9/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1934307	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03831.hp2 HG04204.hp2 others(1): Show HG00280.hp1 HG03831.hp2 HG04204.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0050 a0001c0001t0001g0082 a0001c0001t0004g0010 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0082 a0001c0001t0004g0010 a0001c0001t0004g0011	4	104	0.0385	36	c.505 others(53): Show c.505+8674_505+8675insGTGTATATATATATATATATATATATAT ATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	9/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262915	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02559.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0001 a0001c0012t0004 a0001c0003t0001 a0001c0012t0004	a0001c0003t0001g0094 a0001c0012t0004g0005 a0001c0003t0001g0094 a0001c0012t0004g0005	2	104	0.0192	36	c.-42 others(57): Show c.-421+21488_-421+21489insATATATATATATATATATATATAT ATATATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(29): Show GCATGCGCGCGCGCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 NA18956.hp2 HG00423.hp1 HG00609.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167	3	352	0.0085	36	c.75+ others(51): Show c.75+1081_75+1082insTGCGCGCGCGCGCACACACACACACACACA CACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(29): Show GCATGCGCGCGCGCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18747.hp2 NA18939.hp1 others(4): Show HG02572.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18951.hp1 NA18978.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0009 a0002c0004t0001 a0001c0001t0001 a0001c0001t0009 a0002c0004t0001	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 others(4): Show a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0342 a0001c0001t0009g0202 a0002c0004t0001g0205	7	352	0.0199	36	c.75+ others(51): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCACACACACACACACA CACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(29): Show GCATGCGCGCGCGCGCGCACGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	352	0.0028	36	c.75+ others(51): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCACGCACACACACACA CACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(29): Show GCATGCGCGCGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01978.hp1 HG02922.hp1 others(1): Show HG00642.hp2 HG01978.hp1 HG02922.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 others(1): Show a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0013g0267	4	352	0.0114	36	c.75+ others(51): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCACACACACACACA CACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(29): Show GCATGCGCGCGCGCGCGCGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0313 a0001c0001t0003g0313	1	352	0.0028	36	c.75+ others(51): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCGCGCGCACACA CACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(29): Show GCATGCGCGCGCGCGCGCGCGCGCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0334 a0003c0005t0004g0334	1	352	0.0028	36	c.75+ others(51): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCGCGCGCGCACA CACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57624719	T T	TCCTCCTT others(29): Show TCCTCCTTCTCCAAGTCATCCTACCTACTGCAGCCAG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0140 a0001c0003t0003g0140	1	352	0.0028	36	c.412 others(53): Show c.412-1059_412-1024dupCCTCCTTCTCCAAGTCATCCTACCTACT GCAGCCAG	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
NADSYN1_chr11_71448203_71506816	71482723	A A	AGGCACCT others(29): Show AGGCACCTGGGGGTGTAGACCGGGGTGGAGCCGCATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	354	0.0028	36	c.115 others(51): Show c.1151-97_1151-62dupGCCGCATGGGCACCTGGGGGTGTAGACCGG GGTGGA	NADSYN1	ENSG00000172890.13	transcript	ENST00000319023.7	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAGA_chr22_42053334_42075812	42061432	G G	GGCCTGGA others(29): Show GGCCTGGAGGGTGCTGTCCAGTGCAGCTGCCAGTGCT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	418	0.0024	36	c.958 others(51): Show c.958-366_958-365insAGCACTGGCAGCTGCACTGGACAGCACCCT CCAGGC	NAGA	ENSG00000198951.12	transcript	ENST00000396398.8	protein_coding	7/8			chr22	TogoVar
NALCN_chr13_101048776_101421508	101300363	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	176	0.0057	36	c.800 others(53): Show c.800-7998_800-7997insGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	7/43			chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA19088.hp1 HG02300.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0158 a0001c0001t0001g0085 a0001c0001t0001g0158	2	336	0.0060	36	c.743 others(51): Show c.743+588_743+623dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NAPEPLD_chr7_103094776_103154099	103099575	C C	CGTGTGTG others(29): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00642.hp2 others(28): Show HG00323.hp1 HG00423.hp1 HG00642.hp2 HG01109.hp1 HG01167.hp1 HG01243.hp2 HG01258.hp1 HG01517.hp2 HG01978.hp1 HG01978.hp2 HG02523.hp2 HG02698.hp2 HG02735.hp2 HG02976.hp2 HG03654.hp2 NA18747.hp2 NA18942.hp1 NA18951.hp1 NA18952.hp2 NA18962.hp2 NA18972.hp1 NA18981.hp2 NA18985.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19058.hp2 NA19067.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0002c0002t0001 a0002c0002t0008 a0002c0002t0025	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0170 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0040 a0001c0001t0002g0047 a0001c0001t0002g0091 a0001c0001t0002g0099 a0001c0001t0002g0113 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0146 a0001c0001t0004g0171 a0001c0001t0005g0013 a0001c0001t0005g0094 a0001c0001t0010g0328 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0212 a0002c0002t0001g0244 a0002c0002t0001g0262 a0002c0002t0008g0273 a0002c0002t0008g0276 a0002c0002t0025g0272	31	381	0.0814	36	c.38 others(47): Show c.3853_*3854insACACACACACACACACACACACACACACACACAC AC	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding		200		chr7	TogoVar
NAPEPLD_chr7_103094776_103154099	103152736	C C	CCTGGCCG others(29): Show CCTGGCCGGATAAACCCCTTCTTTCTTTAACTCGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0319 a0001c0001t0006g0319	1	381	0.0026	36	c.-39 others(47): Show c.-3943_-3942insCACCGAGTTAAAGAAAGAAGGGGTTTATCCGGCC AG	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding		3638		chr7	TogoVar
NARF_chr17_82453741_82495537	82471791	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	356	0.0028	36	c.386 others(51): Show c.386-757_386-756insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar

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