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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⚠️ 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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MACF1_chr1_39199695_39492138	39234634	G G	GGGCGGGG others(414): Show GGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGAGATGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGG CGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0093 a0002c0003t0002g0093	1	246	0.0041	421	c.171 others(438): Show c.171+3399_171+3400insCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGAGATGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGG	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234634	G G	GGGCGGGG others(414): Show GGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGAGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGG CGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02129.hp2 NA18954.hp1 HG01106.hp2 HG02129.hp2 NA18954.hp1	a0001 a0041 a0001 a0041	a0001c0012 a0041c0033 a0001c0012 a0041c0033	a0001c0012t0001 a0041c0033t0001 a0001c0012t0001 a0041c0033t0001	a0001c0012t0001g0058 a0001c0012t0001g0059 a0041c0033t0001g0055 a0001c0012t0001g0058 a0001c0012t0001g0059 a0041c0033t0001g0055	3	246	0.0122	421	c.171 others(438): Show c.171+3399_171+3400insCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGG	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234634	G G	GGGCGGGG others(414): Show GGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGG CGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCAGCTGGCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	246	0.0041	421	c.171 others(438): Show c.171+3399_171+3400insCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCAGCTGGCCTGGCGGGGG	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234634	G G	GGGCGGGG others(414): Show GGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGG CGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02155.hp1 HG02523.hp1 others(3): Show HG02132.hp1 HG02155.hp1 HG02523.hp1 HG03239.hp1 NA18960.hp1 NA19080.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0002 a0007c0007t0001 a0007c0007t0002	a0007c0007t0001g0056 a0007c0007t0001g0081 a0007c0007t0001g0082 others(3): Show a0007c0007t0001g0056 a0007c0007t0001g0081 a0007c0007t0001g0082 a0007c0007t0001g0101 a0007c0007t0002g0054 a0007c0007t0002g0057	6	246	0.0244	421	c.171 others(438): Show c.171+3399_171+3400insCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGG	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAEA_chr4_1284891_1345137	1334040	A A	ATGTGCCC others(414): Show ATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCAC CCATCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCGTG CTCACCCCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCA CCCCCATGCCCGTGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCT CACCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCC ATGCCCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCA CCCCTGCACCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCAT GCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCCCACC CCTGCACCCACCCCCATGCCCG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	388	0.0026	421	c.765 others(438): Show c.765+1180_765+1181insCCACCCCTGCACCCACCCCCATGCCCGT GTGCCCACCCCTGCACCCATCCCATGCCCGTGTGCTCACCCCTGCACCCA TCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTG CCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCACC CCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCA CCCCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCC CATGCCCGTGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACC CCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGC CCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579126	C C	CCACCACC others(414): Show CCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCAC CATCACCACCACCATCACCATCACCACCACCATCACCACCACCACCACCA TCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCATCACCACCACCACCACCACCATCACCACCAC CACCACCACCATCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	362	0.0028	421	c.391 others(436): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCATCACCATCACCACCAC CACCATCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCATCACCACCACCACCACCACCATC ACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894956	T T	TATATATA others(414): Show TATATATATGCATGTGATGCATATATATATGCATGTGATGCATATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATG CATGTGATGCATATATATATATGCATCACATGCATATATATATATGCATG TGATGCATATATATATGCATGTGATGCATATATATATGCATGTGATGCAT ATATATATATGCATGTGATGCATATATATATGCATGTGATGCATATATAT ATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATAT GCATGTGATGCATATATATATATGCATGTGATGCATATATATATGCATGT GATGCATATATATATATGCATGTGATGCATATATATATATGCATGTGATG CATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0034 a0001c0001t0009g0034	1	102	0.0098	421	c.-38 others(440): Show c.-38-40788_-38-40787insGCATCACATGCATATATATATGCATC ACATGCATATATATATATGCATCACATGCATATATATATATGCATCACAT GCATATATATATGCATCACATGCATATATATATATGCATCACATGCATAT ATATATATGCATCACATGCATATATATATATGCATCACATGCATATATAT ATATGCATCACATGCATATATATATGCATCACATGCATATATATATATGC ATCACATGCATATATATATGCATCACATGCATATATATATGCATCACATG CATATATATATATGCATGTGATGCATATATATATATGCATCACATGCATA TATATATATGCATCACATGCATATATATATATGCATCACATGCATATATA TATATGCATCACATGCATATATATATGCATCACATGCATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(414): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01123.hp2 HG01261.hp1 others(3): Show HG00438.hp2 HG01123.hp2 HG01261.hp1 HG01993.hp1 HG02273.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0084 a0001c0001t0001g0097 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0084 a0001c0001t0001g0097 a0001c0001t0003g0130	6	390	0.0154	421	c.112 others(438): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(414): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG06807.hp1 HG00438.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0156 a0001c0001t0002g0157	2	390	0.0051	421	c.112 others(438): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(414): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0185 a0001c0001t0006g0185	1	390	0.0026	421	c.112 others(438): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	421	c.26 others(432): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	421	c.26 others(432): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	421	c.26 others(432): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCTGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	421	c.26 others(432): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCTGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MLPH_chr2_237482251_237560322	237544349	T T	TGGGGGGA others(414): Show TGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTG AGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGG TAGTGAGTCGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGG TGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGCACGGTAGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTT GGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCGGGGGACAGTGGTG AGTGGGGGAACAGTGGTGAGTG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	286	0.0035	421	c.153 others(440): Show c.1539+1694_1539+1695insGGACAGTGGTGAGTGGGGGGACAGTG GCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGT GGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACA GTGGTGAGTGGGTGCACGGTAGTGAGTCGGGGGACAGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTG GGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTGGGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGCACAGTGGTGA GTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGT GAGTCGGGGGACAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMD2_chr7_4900998_4964187	4960081	T T	TGGGGGAC others(414): Show TGGGGGACCTGGGGGTGGAGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGA GTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAA GTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAG TGGGGGTGTTGGAGGGAGTGGGGGGACCTGGGGGTGGAGGGAGTGGGAAG TCGGGGTGTTGGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACCT TGGAGGTTGGGGGAGTGGGAAGAGTGGGGGGGTGTTGGAGGGAGTGGGGG ACCTGGGGGTGGAGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGG GGGGTTAGTCGGGAAGAGAGGGACTTGGAGGTTGGGGGGTGGAGTTGGGA GTGGGGGGTGTTGGAGGGAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0280 a0001c0001t0004g0280	1	382	0.0026	421	c.-10 others(432): Show c.-1065_-1064insCACTCCCTCCAACACCCCCCACTCCCAACTCCAC CCCCCAACCTCCAAGTCCCTCTCTTCCCGACTAACCCCCCTCACTCCCCC CCCAACACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCCACTCCCT CCAACACCCCCCCACTCTTCCCACTCCCCCAACCTCCAAGGTCCCTCTCT TCCCACTAACCCCCTCACTCCCCCCCCCAACACCCCGACTTCCCACTCCC TCCACCCCCAGGTCCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCC CCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCC CAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAAC ACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		895		chr7	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(414): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01123.hp1 HG01261.hp1 others(3): Show HG00438.hp1 HG01123.hp1 HG01261.hp1 HG01993.hp1 HG02273.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0001g0003 a0001c0001t0002g0002	6	364	0.0165	421	c.18 others(432): Show c.1863_*1864insTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCT GGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACT CGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAG CCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCC AGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCT CAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCT ACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(414): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG06807.hp2 HG00438.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0008 a0001c0001t0001g0025	2	364	0.0055	421	c.18 others(432): Show c.1863_*1864insTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGC TGGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTAC TCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCA GCCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACC CAGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACC TCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGC TACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(414): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	364	0.0028	421	c.18 others(432): Show c.1863_*1864insTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGG CTGGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGT TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTA CTCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCC AGCCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCAC CCAGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACAC CTCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAG CTACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(414): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	356	0.0028	421	c.91+ others(434): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(414): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTT GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	356	0.0028	421	c.91+ others(434): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(414): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	356	0.0028	421	c.91+ others(434): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535783	A A	AGGGGAGC others(414): Show AGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGT GGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGA GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAG GGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGAGTGGGTGGAGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0004 a0005c0023t0004	a0005c0023t0004g0066 a0005c0023t0004g0066	1	324	0.0031	421	c.140 others(438): Show c.140+8240_140+8241insCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCAC TCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCAC CCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGATCCCCCCCACCCAC CCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCC ACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(414): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGTGG GGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGA GAAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GGAAGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGG GAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAAA GGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGG AGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGG AGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA20752.hp1 HG01517.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0098 a0001c0001t0026 a0001c0001t0098	a0001c0001t0026g0154 a0001c0001t0098g0159 a0001c0001t0026g0154 a0001c0001t0098g0159	2	344	0.0058	421	c.154 others(438): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTC CCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC TCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(414): Show TCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTC TCCTCTCCTCTCCTCTCCTCTCCCCTCCCACCCTCCCACCTTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCC CTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCC CCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCC CTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	326	0.0031	421	c.433 others(438): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAAGGTGGGAGGGTGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCTCC others(414): Show TCCTCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCTTCCCC CTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCACT CCTTCTCTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCC CCCTGCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCTCCCCTTCCCCT CCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCCCCCTCCCCTCCCC CTCCTCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTTCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTC CCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02886.hp1 HG01070.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0192 a0001c0001t0007g0285 a0001c0001t0007g0192 a0001c0001t0007g0285	2	308	0.0065	421	c.226 others(440): Show c.2262+7528_2262+7529insTCCCCCTCCTCCCCCTCCCCTCCCCC TCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCT CCCCTCCCCTCCTCCCACTCCTTCTCTCCCCCTCCTCCCCCTCCCTTCCC CCTCCTCCCCCTCCCCTCCCCCTGCTCCCCCTCCTTCCCTCCCCCTCCTC CCCCTCCTCCCCTTCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCC CTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTTCCCTCC CCCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCC CTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCACT CCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTTCCCTC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCTCC others(414): Show TCCTCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCTTCCCC CTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCT CCTTCTCTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCC CCCTGCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCTCCCCTTCCCCT CCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCCCCCTCCCCTCCCC CTCCTCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTTCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTC CCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG06807.hp2 HG02922.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0028 a0001c0001t0007 a0001c0001t0028	a0001c0001t0007g0186 a0001c0001t0028g0237 a0001c0001t0007g0186 a0001c0001t0028g0237	2	308	0.0065	421	c.226 others(440): Show c.2262+7528_2262+7529insTCCCCCTCCTCCCCCTCCCCTCCCCC TCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCT CCCCTCCCCTCCTCCCCCTCCTTCTCTCCCCCTCCTCCCCCTCCCTTCCC CCTCCTCCCCCTCCCCTCCCCCTGCTCCCCCTCCTTCCCTCCCCCTCCTC CCCCTCCTCCCCTTCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCC CTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTTCCCTCC CCCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCC CTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCACT CCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTTCCCTC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCBP3_chr21_45638725_45947450	45909767	C C	CCCCACCC others(414): Show CCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACG GACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCC AGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCAC TGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCA CACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGAT GTGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATA CGGACCCCCCCAACCCACTTCCCAGATATGGACCTGGCCACCCACTGCCC AGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCGCCACC CACTGCCCAGATATGGACCCGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	292	0.0034	421	c.471 others(436): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCCCCCA CCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCC GGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATG GACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCC AGATACGGACCCCCCTCACCTGCTTCCCAAATATGGATGTGGCCCACCCA CTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCA ACCCACTTCCCAGATATGGACCTGGCCACCCACTGCCCAGATACGGACCC CCCCCCACCCACTGCCCAGATACGGACCCCCCGCCACCCACTGCCCAGAT ATGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(414): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGA GGAGGAGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGG AGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAG GAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	115	0.0087	421	c.305 others(442): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGG GAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGA GGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PDE10A_chr6_165322289_165668241	165619400	T T	TAGCCTAG others(414): Show TAGCCTAGTGTAGTGTAGGCTAGGGTAGGCTAGTGTAGGCTAGTGTAGTG TAGTAGTGTAGTCTAGTGTAGTCTAGTATAGTGTAGTGTAGTCTAGTGTA CTGTAGTGTAGTATAGTGTAGTCTAGTGTGGTGTGGTGTGGTGTAGTGTA GTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCAGTGTAGTCTA GTGTAGTACAGTCTAGTGTAGTCTAGTATAGTGTAGTCCAGTGTAGTGTA GTATAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTCTA GTGTACTGTAGTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTGTAGTCTA GTGTACTGTAGTGTAATGTAGTCTAGTCTAGTGTAGTCTAGTGTACTGTA GTGTAGTGCAGTGGTCTAGTGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02922.hp1 others(1): Show HG02280.hp2 HG02486.hp2 HG02922.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0012	a0001c0001t0009 a0001c0002t0003 a0001c0005t0002 others(1): Show a0001c0001t0009 a0001c0002t0003 a0001c0005t0002 a0002c0012t0002	a0001c0001t0009g0124 a0001c0002t0003g0123 a0001c0005t0002g0129 others(1): Show a0001c0001t0009g0124 a0001c0002t0003g0123 a0001c0005t0002g0129 a0002c0012t0002g0204	4	222	0.0180	421	c.865 others(440): Show c.865+42546_865+42547insGCACTAGACCACTGCACTACACTACA GTACACTAGACTACACTAGACTAGACTACATTACACTACAGTACACTAGA CTACACTACACTAGACTACACTACACTACACTACACTACAGTACACTAGA CTACACTAGACTACACTACACTACACTACAGTACACTAGACTATACTACA CTACACTGGACTACACTATACTAGACTACACTAGACTGTACTACACTAGA CTACACTGCACTACACTACAGTACACTAGACTACACTAGACTACACTACA CTACACCACACCACACCACACTAGACTACACTATACTACACTACAGTACA CTAGACTACACTACACTATACTAGACTACACTAGACTACACTACTACACT ACACTAGCCTACACTAGCCTACCCTAGCCTACACTACACTAGGCT	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDE10A_chr6_165322289_165668241	165619409	C C	CTAGTGTA others(414): Show CTAGTGTAGCCTAGTGTAGTGTAGGCTAGGGTAGGCTAGTGTAGGCTAGT GTAGTGTAGTAGTGTAGTCTAGTGTAGTCTAGTATAGTGTAGTGTAGTCT AGTGTACTGTAGTGTAGTATAGTGTAGTCTAGTGTGGTGTGGTGTGGTGT AGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCAGTGT AGTCTAGTGTAGTACAGTCTAGTGTAGTCTAGTATAGTGTAGTCCAGTGT AGTGTAGTATAGTCTAGTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTGT AGTCTAGTGTACTGTAGTGTAATGTAGTCTAGTCTAGTGTAGTCTAGTGT ACTGTAGTGTAGTGCAGTGGTCTAGTGCAGTGTAGTCTAGTGTAGTACAG TCTAGTGTAGTCTAGTGTAGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 HG06807.hp1 others(1): Show HG02145.hp2 HG02809.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0003 a0001c0002t0002 a0001c0004t0018 others(1): Show a0001c0001t0003 a0001c0002t0002 a0001c0004t0018 a0001c0005t0002	a0001c0001t0003g0031 a0001c0002t0002g0125 a0001c0004t0018g0144 others(1): Show a0001c0001t0003g0031 a0001c0002t0002g0125 a0001c0004t0018g0144 a0001c0005t0002g0130	4	222	0.0180	421	c.865 others(440): Show c.865+42537_865+42538insCACTACACTAGACTACACTAGACTGT ACTACACTAGACTACACTGCACTAGACCACTGCACTACACTACAGTACAC TAGACTACACTAGACTAGACTACATTACACTACAGTACACTAGACTACAC TACACTAGACTACACTACACTACACTACACTAGACTATACTACACTACAC TGGACTACACTATACTAGACTACACTAGACTGTACTACACTAGACTACAC TGCACTACACTACAGTACACTAGACTACACTAGACTACACTACACTACAC CACACCACACCACACTAGACTACACTATACTACACTACAGTACACTAGAC TACACTACACTATACTAGACTACACTAGACTACACTACTACACTACACTA GCCTACACTAGCCTACCCTAGCCTACACTACACTAGGCTACACTA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDGFC_chr4_156755454_156976799	156759729	A A	ACACCGAG others(414): Show ACACCGAGGGTAACCAAACCATAGTCAATGCACCTGGAGACAGGGATGCA CCGAGGGTAACCAAACCATGGTCAATGCACCTGGAGACAGGGATGCACCG AGGGACCAAACCACGGTCAATGCACCTAGAGACAGGGATACACCGAGGGT AACCAAACCATAGTCAATGCACCTGGAGACAGGGATACACCGAGGGTAAC CAAACCATAGTCAATGCACCTGGAGACAGGGATGCACCGAGGGTAACCAA ACCACGTTCAATGCGCCTGGAGACAGGGATGCACCGAGGGTAACCAAACC ACGGTCAATGCACCTGGAGACAGGGATACACCGAGGGTAACCAAACCATA GTCAATGCACCTGGAGACAGGGATGCACCGAGGGTAACCAAACGATGGTC AATGCACCTGGAGACAGGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0188 a0001c0001t0007g0188	1	208	0.0048	421	c.33 others(432): Show c.3360_*3361insCATCCCTGTCTCCAGGTGCATTGACCATCGTTTG GTTACCCTCGGTGCATCCCTGTCTCCAGGTGCATTGACTATGGTTTGGTT ACCCTCGGTGTATCCCTGTCTCCAGGTGCATTGACCGTGGTTTGGTTACC CTCGGTGCATCCCTGTCTCCAGGCGCATTGAACGTGGTTTGGTTACCCTC GGTGCATCCCTGTCTCCAGGTGCATTGACTATGGTTTGGTTACCCTCGGT GTATCCCTGTCTCCAGGTGCATTGACTATGGTTTGGTTACCCTCGGTGTA TCCCTGTCTCTAGGTGCATTGACCGTGGTTTGGTCCCTCGGTGCATCCCT GTCTCCAGGTGCATTGACCATGGTTTGGTTACCCTCGGTGCATCCCTGTC TCCAGGTGCATTGACTATGGTTTGGTTACCCTCGGTG	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding		724		chr4	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(414): Show CAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA ATGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG GAAAGAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAG AAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0291 a0002c0002t0006g0291	1	342	0.0029	421	c.20- others(436): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TTTTCTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTCTTTCCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCATTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PIAS4_chr19_4002736_4044386	4011872	C C	CTGTGGGG others(414): Show CTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAAG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02280.hp2 others(17): Show HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0004 a0001c0004t0008 others(2): Show a0001c0004t0003 a0001c0004t0004 a0001c0004t0008 a0001c0004t0011 a0001c0004t0012	a0001c0004t0003g0005 a0001c0004t0003g0246 a0001c0004t0003g0250 others(14): Show a0001c0004t0003g0005 a0001c0004t0003g0246 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0003g0252 a0001c0004t0003g0253 a0001c0004t0003g0254 a0001c0004t0003g0255 a0001c0004t0003g0256 a0001c0004t0003g0257 a0001c0004t0003g0258 a0001c0004t0003g0259 a0001c0004t0004g0248 a0001c0004t0004g0249 a0001c0004t0008g0300 a0001c0004t0011g0004 a0001c0004t0012g0004	20	334	0.0599	421	c.28- others(436): Show c.28-1032_28-1031insTGGGGTGTGGAGGTGTGTTTGGTGTGGAAG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011872	C C	CTGTGGGG others(414): Show CTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0301 a0001c0004t0003g0301	1	334	0.0030	421	c.28- others(436): Show c.28-1032_28-1031insTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIGQ_chr16_564968_589109	571084	T T	TGTGTGTG others(414): Show TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGG CTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCT AGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGT GTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGT GTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTGGCTAGCCTGGCGCCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0123 a0002c0001t0001g0123	1	408	0.0025	421	c.-10 others(438): Show c.-10+1006_-10+1007insCTGGCTAGCCTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTC TGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTG GCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTA TGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTG TGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCG TGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCB1_chr20_8127266_8889900	8662120	A A	AATTATAT others(414): Show AATTATATAATTATATATATATAATTATATAATTATATATTATTTATTAT ATAATATATAATATATAATTATATATTATTTATTATATAATATATAATTA TATAATTATATATTATTTATTATATAATTATATATTATTTATTATATAAT ATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTAT TATATAATTATATATTATGTATTATATAATATATAATTATATATTATGTA TTATATAATTATATAATTATATATTATTTATTATATAATTATATAATTAT ATATTATTTATTACATAATTATATATTATTTATTACATAAGTATATATCA CTTATTATATAATTGTATATAATTATTTATTATATAATTGCATATAATTA TTTATTATATAATTGTATATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0073 a0001c0004t0002g0073	1	106	0.0094	421	c.862 others(438): Show c.862+3416_862+3417insATTATATAATTATATATATATAATTATA TAATTATATATTATTTATTATATAATATATAATATATAATTATATATTAT TTATTATATAATATATAATTATATAATTATATATTATTTATTATATAATT ATATATTATTTATTATATAATATATAATTATATATTATTTATTATATAAT ATATAATTATATATTATTTATTATATAATTATATATTATGTATTATATAA TATATAATTATATATTATGTATTATATAATTATATAATTATATATTATTT ATTATATAATTATATAATTATATATTATTTATTACATAATTATATATTAT TTATTACATAAGTATATATCACTTATTATATAATTGTATATAATTATTTA TTATATAATTGCATATAATTATTTATTATATAATTGTATATAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31			chr20	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(414): Show AGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGT CATCTCTGAGCTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0055 a0001c0002t0014g0055	1	340	0.0029	421	c.227 others(438): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGCCT GTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACC AGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(414): Show AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGT CATCTCTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0143 a0002c0004t0005g0143	1	340	0.0029	421	c.227 others(438): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGG CCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PROZ_chr13_113153648_113177386	113162009	T T	TCCCCACA others(414): Show TCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTC CTGCGCTAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCA GCTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCA CGTCCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCC ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	378	0.0027	421	c.260 others(436): Show c.260-998_260-997insCCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC CTCCTCACATCCTCCTCCTGCGCTAGGTCCCCGTCCCTGCCACGTCCCCC CATCCTCCTCCTGCTCAGCTCCCCGTCCCTGCCACGTCCCCCCATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCACGTCCCCCCCATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGC CACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCC CTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79495482	A A	AGGAAGGT others(414): Show AGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCA GAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGG GGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGG GGGAGGGGTGCACAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGA AGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGG GTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTG CAGAGGGTGGGGAGGTGGGGGCAGGGGTGCAGAGGGTGGGAAGGTGGGGG AGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGG TGGGGGAGGGGTGCAGAGGGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	154	0.0065	421	c.-31 others(442): Show c.-319-12885_-319-12884insCACCCTCTGCACCCCTCCCCCACC TCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCC CCCACCTTCCCACCCTCTGCACCCCTGCCCCCACCTCCCCACCCTCTGCA CCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCC TCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTC CCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTGTGCACCCCTCCCCC ACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCC TCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTG CACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0183 a0002c0002t0001g0183	1	412	0.0024	421	c.205 others(436): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACCGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCT CACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCC GACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	412	0.0024	421	c.205 others(436): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCT CACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCC GACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0181 a0002c0002t0001g0181	1	412	0.0024	421	c.205 others(436): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACCGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCT CACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCC GACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCTGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0030 a0030	a0030c0062 a0030c0062	a0030c0062t0001 a0030c0062t0001	a0030c0062t0001g0217 a0030c0062t0001g0217	1	412	0.0024	421	c.205 others(436): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACAGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCT CACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCC GACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(414): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGGAGAGGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGG AAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGG GGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGG GGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGG GGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	318	0.0031	421	c.36 others(432): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGAG GAGGGAGGAGGGGAGGGGGGGAGAGGGGGGGAGGGGGAGAGGGGAGGAGG GGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGG AGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCG GGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(414): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGGAGGGGGAGGGCGGGGAGGAGGGGACGG GGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	318	0.0031	421	c.36 others(432): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAG GAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAG GGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGGAGGGGGAGGGCG GGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(414): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGA GGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGA AGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGG GGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0147 a0001c0001t0011g0147	1	318	0.0031	421	c.36 others(432): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGA GGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGA GGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGG GAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGA GGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGGAGGAGGGGAGGGCG GGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(414): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGG GGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGAGGAGGGG AGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGG AAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGG GGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGG GGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGG GGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	318	0.0031	421	c.36 others(432): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGGAGGAGGGGAAGAGGGAGGAGGGG AGGGGGGAGGAGGGGAGGGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGG AGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGG AGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGG GGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGG AGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCG GGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RIMBP2_chr12_130391133_130721299	130392360	C C	CGGTCACC others(414): Show CGGTCACCGTCATCACGTGTGTCTGTCAGTTACCTGGTGAATATTGAATG TTGTGATGACCCGGTCACCGTCATCACGTGTCCGTCAGTTACCTGGTAAA TATTGAATGTTGTGATGACCTGGTCACCGTCATCAAGTGTGTCCATCAGT TACCTGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCATCATGTG TCCGTCAGTTACCTGGTAAATATTGAATGTTGTGATGACCTGGTCACCGT CATCAAGTGTGTCCATCAGTTACCTGGTGAATATTGAATGTTGTGATGAC CCGGTCACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGAATGT TGTGATGACCCGGTCACCGTCATCATGTGTGTCCGTCAGTTACCTGGTGA ATATTGAATGTTGTGATGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0165 a0001c0005t0001g0165	1	180	0.0056	421	c.50 others(432): Show c.5000_*5001insAGGTCATCACAACATTCAATATTCACCAGGTAAC TGACGGACACACATGATGACGGTGACCGGGTCATCACAACATTCAATATT CACCAGGTAACTGACGGACACGTGATGACGGTGACCGGGTCATCACAACA TTCAATATTCACCAGGTAACTGATGGACACACTTGATGACGGTGACCAGG TCATCACAACATTCAATATTTACCAGGTAACTGACGGACACATGATGACG GTGACCGGGTCATCACAACATTCAATATTCACCAGGTAACTGATGGACAC ACTTGATGACGGTGACCAGGTCATCACAACATTCAATATTTACCAGGTAA CTGACGGACACGTGATGACGGTGACCGGGTCATCACAACATTCAATATTC ACCAGGTAACTGACAGACACACGTGATGACGGTGACC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3772		chr12	TogoVar

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