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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Select column to sort.

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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
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(551): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCC CCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGC ACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCAC CCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18975.hp1 NA18952.hp2 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	320	0.0063	558	c.39 others(569): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DOCK3_chr3_50669927_51389198	51015808	C C	CTATATAT others(551): Show CTATATATGATATATATATCATATATTTCTATATATGATATATATATCAT ATATTTCTATATATGATATATATATCATATATTTCTATATATGATATATA TATCATATATTTCTATATATGATATATATATCATATATTTCTATATATGA TATATATATCATATATTTCTATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATTTCTATATATGATATATATATCATATAT TTCTATATATGATATATATATCATATATATGATATATATATCATATATTT CTATATATGATATATATATCATATATATGATATATATATCATATATTTCT ATATATGATATATATATCATATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATTTCTATATATGATATATATATCATATAT ATGATATATATATCATATATATGATATATATATCATATATTTCTATATAT GATATATATATCATATATATGATATATATATCATATATTTCTATATATGA TATATATAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	212	0.0047	558	c.316 others(577): Show c.316-48596_316-48595insATCATATATTTCTATATATGATATAT ATATCATATATTTCTATATATGATATATATATCATATATTTCTATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATTTCTA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TTTCTATATATGATATATATATCATATATTTCTATATATGATATATATAT CATATATATGATATATATATCATATATTTCTATATATGATATATATATCA TATATATGATATATATATCATATATTTCTATATATGATATATATATCATA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TTTCTATATATGATATATATATCATATATATGATATATATATCATATATA TGATATATATATCATATATTTCTATATATGATATATATATCATATATATG ATATATATATCATATATTTCTATATATGATATATATAATATATATGATAT ATATATCATATATTTCTATATATGATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	51015808	C C	CTATATAT others(551): Show CTATATATGATATATATATCATATATTTCTATATATGATATATATATCAT ATATTTCTATATATGATATATATATCATATATTTCTATATATGATATATA TATCATATATTTCTATATATGATATATATATCATATATTTCTATATATGA TATATATATCATATATTTCTATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATTTCTATATATGATATATATATCATATAT TTCTATATATGATATATATATCATATATATGATATATATATCATATATTT CTATATATGATATATATATCATATATATGATATATATATCATATATTTCT ATATATGATATATATATCATATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATTTCTATATATGATATATATATCATATAT ATGATATATATATCATATATATGATATATATATCATATATTTCTATATAT GATATATATATCATATATATGATATATATATCATATATTTCTATATATGA TATATATCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	212	0.0047	558	c.316 others(577): Show c.316-48596_316-48595insATCATATATTTCTATATATGATATAT ATATCATATATTTCTATATATGATATATATATCATATATTTCTATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATTTCTA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TTTCTATATATGATATATATATCATATATTTCTATATATGATATATATAT CATATATATGATATATATATCATATATTTCTATATATGATATATATATCA TATATATGATATATATATCATATATTTCTATATATGATATATATATCATA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TTTCTATATATGATATATATATCATATATATGATATATATATCATATATA TGATATATATATCATATATTTCTATATATGATATATATATCATATATATG ATATATATATCATATATTTCTATATATGATATATATCATATATATGATAT ATATATCATATATTTCTATATATGATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCTCCTCC others(551): Show TCTCCTCCTCCTCTCCTCTCCTCCTCCTCCTCTCTTCCTCCTCTCCTCCT CTTCTGCTCCTTTCCTCCTCCTCCTCCTTCTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCT GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTCCTCCTTCTT TCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCCTCTCCTCTCCTCCTCC TCTCCTCTCCTCCTCTCCTCCTCTCCCTTTCTTCTTCCTCTCCTCCTCTT CTCCTCCTCTCCTCTTCCTGTCCTCCTCCTCCTCTCCTCTTCCTCCTCCT CTTCTCCTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0003 a0009c0007t0003	a0009c0007t0003g0121 a0009c0007t0003g0121	1	234	0.0043	558	c.489 others(577): Show c.489+11801_489+11802insCCTCCTCTCCTCTCCTCCTCCTCCTC TCTTCCTCCTCTCCTCCTCTTCTGCTCCTTTCCTCCTCCTCCTCCTTCTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCA CCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCT CCTCTCCTCTCCTCCTCCTCTCCTCTCCTCCTCTCCTCCTCTCCCTTTCT TCTTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTCC TCTCCTCTTCCTCCTCCTCTTCTCCTCCTCCT	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCTCCTCC others(551): Show TCTCCTCCTCCTCTCCTCTCCTCCTCCTCCTCTCTTCCTCCTCTCCTCCT CTTCTGCTCCTTTCCTCCTCCTCCTCCTTCTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCT GGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTCCTCCTTCTT TCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCCTCTCCTCTCCTCCTCC TCTCCTCTCCTCCTCTCCTCCTCTCCCTTTCTTCTTCCTCTCCTCCTCTT CTCCTCCTCTCCTCTTCCTGTCCTCCTCCTCCTCTCCTCTTCCTCCTCCT CTTCTCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp2 HG03098.hp2 others(1): Show HG01243.hp1 HG02970.hp2 HG03098.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0036 a0001c0001t0038 a0001c0001t0008 a0001c0001t0036 a0001c0001t0038	a0001c0001t0008g0195 a0001c0001t0008g0196 a0001c0001t0036g0217 others(1): Show a0001c0001t0008g0195 a0001c0001t0008g0196 a0001c0001t0036g0217 a0001c0001t0038g0216	4	234	0.0171	558	c.489 others(577): Show c.489+11801_489+11802insCCTCCTCTCCTCTCCTCCTCCTCCTC TCTTCCTCCTCTCCTCCTCTTCTGCTCCTTTCCTCCTCCTCCTCCTTCTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCA CCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCT CCTCTCCTCTCCTCCTCCTCTCCTCTCCTCCTCTCCTCCTCTCCCTTTCT TCTTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTCC TCTCCTCTTCCTCCTCCTCTTCTCCTCCTCCT	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FKBP2_chr11_64236095_64249132	64237115	G G	GGGAGAGG others(551): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGACA GAGACAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	332	0.0030	558	c.-40 others(569): Show c.-4022_-4021insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGACAGACAGAGACAGAC	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3979		chr11	TogoVar
GABRB3_chr15_26538552_26778066	26716752	A A	AACAGCCC others(551): Show AACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0186 a0001c0001t0009g0186	1	204	0.0049	558	c.240 others(577): Show c.240+55649_240+55650insGGTTGGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCCCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTCATTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC CCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TCATTTGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(551): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCT GGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATGA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGG GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCAAATG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03139.hp1 HG04115.hp2 others(1): Show HG00673.hp2 HG03139.hp1 HG04115.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0002t0007	a0001c0001t0002g0124 a0001c0001t0004g0154 a0001c0001t0009g0172 others(1): Show a0001c0001t0002g0124 a0001c0001t0004g0154 a0001c0001t0009g0172 a0001c0002t0007g0075	4	204	0.0196	558	c.240 others(577): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GALNT9_chr12_132191372_132334589	132244423	T T	TGGGGCTG others(551): Show TGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATG GATGGGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGA TGGGGGCGTGGTGATGGGGGCTGGACGGGGGGCGTGGTGATGGGGCTGGA TGGGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGACG GGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACG GGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGG GGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGGGG CGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGGGG GCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGGGC GTGGTGATGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGATGGGGGG GCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGTGC GTGGTGATG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0097 a0001c0006t0001g0097	1	183	0.0055	558	c.107 others(577): Show c.1077+3486_1077+3487insCATCACCACGCACCCGTCCAGCCCCA TCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCATCCAGCCCCA TCACCACGCCCCCCCGTCCAGCCCCATCACCACGCCCCCATCCAGCCCCA TCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATC ACCACGCCCCCCCGTCCAGCCCCCATCACCACGCCCCCATCCAGCCCCAT CACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCA CCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACC ACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTCCAGCCCCATCACC ACGCCCCCATCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCAC GCCCCCCGTCCAGCCCCCATCACCACGCCCCCATCCAGCCCCATCACCAC GCCCCCATCCAGCCCCATCACCACGCCCCCATCCATCACCACGCCCCCGT CCAGCCCCATCACCACGCCCCCGTCCAGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GET4_chr7_871554_901436	889973	C C	CAGGACGG others(551): Show CAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGT CTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGA GGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0263 a0001c0001t0027g0263	1	384	0.0026	558	c.467 others(573): Show c.467-927_467-926insTGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCG CGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCG CGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCG AGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTT AGGACGGGGTCTGGGAGTGGAGGGAGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(551): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTTAGGAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02129.hp2 HG03491.hp2 others(5): Show HG02071.hp2 HG02129.hp2 HG03491.hp2 NA18943.hp2 NA18967.hp2 NA18970.hp2 NA18985.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0067 a0001c0001t0001g0089 a0001c0001t0003g0006 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0089 a0001c0001t0003g0006 a0001c0001t0003g0072 a0001c0001t0003g0082	8	384	0.0208	558	c.467 others(573): Show c.467-916_467-915insCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(551): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTTAGGAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02523.hp2 HG02132.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0061 a0001c0001t0003g0076 a0001c0001t0001g0061 a0001c0001t0003g0076	2	384	0.0052	558	c.467 others(573): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(551): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTTAGGAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02165.hp1 HG02027.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0238 a0001c0001t0003g0077 a0001c0001t0003g0238	2	384	0.0052	558	c.467 others(573): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(551): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTTAGGAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18967.hp1 NA18983.hp2 others(2): Show NA18944.hp2 NA18967.hp1 NA18983.hp2 NA19068.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0062 a0001c0001t0001g0005 a0001c0001t0001g0062	5	384	0.0130	558	c.467 others(573): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(551): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTTAGGAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02135.hp2 NA18971.hp2 others(6): Show HG00558.hp2 HG02135.hp2 NA18971.hp2 NA18980.hp2 NA18990.hp2 NA18998.hp1 NA19002.hp2 NA19058.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0001 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0063 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0003g0069 a0001c0001t0017g0020	9	384	0.0234	558	c.467 others(573): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GJB3_chr1_34776214_34791364	34777717	A A	ACCATCAC others(551): Show ACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCACCTCCACCATCACACACATTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCACCTCCGCCATCACACACAT TCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGC CATCACACACGTTCACAACCACATATGCACACAGCCTCCCACACCACCCC AGCCACCTCCACCATCACACACATTCACAACCACACATGCACACAGCCTC CCACACCACCCCAGCCATCTCCGCCATCACACACATTCACAACCACACAT GCACACAGCCTCCCACACCACCCCAGCCACCTCCGCCATCACACACATTC ACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCA TCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAG CCATCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	444	0.0023	558	c.-40 others(569): Show c.-4087_-4086insCCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCACCTCCACCATCACACACATTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACA CGTTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTC CGCCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCATCTCCGCCATCACACACGTTCACAACCACATATGCACACAGC CTCCCACACCACCCCAGCCACCTCCACCATCACACACATTCACAACCACA CATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACA TTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCG CCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCC CAGCCATCTCCGCCATCACACACATTCACAACCACACATGCACACAGCCT CCCACACCACCCCAGCCATCTCCG	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3496		chr1	TogoVar
GMDS_chr6_1618806_2250605	1897923	A A	ACCCTTGC others(551): Show ACCCTTGCCATCCTGGACACCTACCCTGGCCTCCGTTGCCATCCTGGACA CCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCGTTG CCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCC TGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCT GGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTACCCTGGCCTC CCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACC TATCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCC ATCCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTACCCTG GCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGG ACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCC TTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACACCTA CCCTGGCCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	166	0.0060	558	c.771 others(577): Show c.771+32179_771+32180insAGGCCAGGGTAGGTGTCCAGGATGGC AAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGT GTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAG GCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGG ATGGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGG TAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAA GGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGT CCAGGATGGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGC CAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGAT GGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAACGGAGGCCAGGATA GGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAACG GAGGCCAGGGTAGGTGTCCAGGATGGCAAGGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GPATCH2_chr1_217421992_217636090	217524926	G G	GGGAGAGG others(551): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	188	0.0053	558	c.109 others(579): Show c.1099-10038_1099-10037insTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(551): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGAAGG GGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGA ATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGG AGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGT TGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGG GGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGG AAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAG GGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGG TGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGG TGCGGTTGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01891.hp2 others(8): Show HG00438.hp2 HG00544.hp2 HG01891.hp2 HG01975.hp1 HG02683.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03490.hp2 HG03654.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0068 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0068 a0001c0001t0069 a0001c0001t0092	a0001c0001t0004g0052 a0001c0001t0004g0077 a0001c0001t0004g0127 others(8): Show a0001c0001t0004g0052 a0001c0001t0004g0077 a0001c0001t0004g0127 a0001c0001t0004g0172 a0001c0001t0004g0199 a0001c0001t0008g0042 a0001c0001t0008g0223 a0001c0001t0008g0277 a0001c0001t0068g0059 a0001c0001t0069g0139 a0001c0001t0092g0240	11	282	0.0390	558	c.684 others(571): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGAAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGG GGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGA AGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGG GGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGT GTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTG GGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGG TGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCG ATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGGTT GGGGGAGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRIN2A_chr16_9748408_10187428	9848749	T T	TTTTAAAT others(551): Show TTTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTT TATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAA AATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATAT TTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACAC TGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATA TATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTA TATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAA TACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTT AAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTG TTTTATATA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20905.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0097 a0001c0001t0005g0043 a0001c0001t0002g0097 a0001c0001t0005g0043	2	168	0.0119	558	c.132 others(577): Show c.1328+1006_1328+1007insTATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTG TATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATA TATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTA TATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAA CAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTT AAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTA TTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATA TAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATA TATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACA GTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAA ATATATAAAACAGTGTATTTTATATATTTAAA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
IFNAR1_chr21_33319970_33364864	33323138	T T	TATATATG others(551): Show TATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTAT GGAATATATATATGGAATATATACGTATGGAATATATATATATGGAATAT ACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATATG GAATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATA TATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGG AATATATATGTATGGAATATATATGTATGGAATATATATATGGAATATAT ATGTATGGAATATATATATGGAATATATATGTATGGAATATACATATGGA ATATATATGTTTGGAATATATATATATGGAATATATATGTATGGAATATA TATATATGGAATATATGTATGGAATATATATATATGGAATATATGTATGG AATATATATATGGAATATATGTATGGAATATATATATGGAATATATGTAT ATGGAATATATATATGGAATATATATATATGGAATATATATGGAATATAT ATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0031 a0002c0002t0025g0031	1	323	0.0031	558	c.-19 others(569): Show c.-1918_-1917insATATATGGAATATATACGTATGGAATATATATAT GGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATAT ATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTATG GAATATATATATATGGAATATATATGTATGGAATATATATATGGAATATA TATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGG AATATATATGTATGGAATATATATGTATGGAATATATATGTATGGAATAT ATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATG GAATATACATATGGAATATATATGTTTGGAATATATATATATGGAATATA TATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATAT GGAATATATGTATGGAATATATATATGGAATATATGTATGGAATATATAT ATGGAATATATGTATATGGAATATATATATGGAATATATATATATGGAAT ATATATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1831		chr21	TogoVar
INS_chr11_2154779_2166209	2161747	C C	CGGGACCC others(551): Show CGGGACCCCTGTCCCCGGGACCCCTGTCCCCCGGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCAGACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCACACCCCTGTCCC CCGGACCCCTGTCCCCGGGACCCCTGTCCCCAGGACCCCTGTCCCCACAC CCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACC CCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCC CGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCC CTGTCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA19043.hp2 HG02258.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	2	376	0.0053	558	c.-59 others(567): Show c.-598_-597insCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCC CGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTG GGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAG GGGTCCCGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTCT GAGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTCCCGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAG GGGTCCCGGGGACAGGGGTCCC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		539		chr11	TogoVar
IQCJ_chr3_159064319_159268747	159229711	C C	CTCCCCCC others(551): Show CTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTCCTCC TCCCCCACCCCCTCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCTCCCCCC TCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCT CCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCC CCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCT CCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGC TCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCC CCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCC CTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCC CCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCCTCCT CCTCCCCCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02976.hp1 HG02886.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0103 a0001c0002t0001g0053 a0001c0002t0001g0103	2	252	0.0079	558	c.10- others(575): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCTCCTCCCCCTCCCC CCTCCTCCCCCTCCCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTC CCCATCCTCCTCCCACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCC ACCTCCCCCTCCTCCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCT CGTCCTCCTCCCCCTCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCC CCCTCCTCCTCCTCCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCT CCTCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCC CACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCC TCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCC ACTCCTCCTCCCCCTCCTCCTCCCCCATCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
JAG2_chr14_105135995_105173776	105162474	C C	CAAAGCCC others(551): Show CAAAGCCCAGGGTACCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCC CACAGCCCAGGGCACTGCATGGCCCAGCATACTCCAAGACCCAGGGCACC CCAGTTCCAGGGCACCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCAC TGCATGGCCCAGCACACCCCAAGGTCCAGGGCACCTTAAAGCCCAGGGTA CCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCCCACAGCCCAGGGCA CTGCATGGCCCAGCATACTCCAAGACCCAGGGCACCCCAGTTCCAGGGCA CCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCACTGCATGGCCCAGCA CACCCCAAGGTCCAGGGCACCTTAAAGCCCAGGGTACCCCAGGTCCAGGG CACCCCAAAGCCCAGAGTATCCCACAGCCCAGGGCACTGCATGGCCCAGC ATACTCCAAGACCCAGGGCACCCCAGTTCCAGGGCACCCCAAAGCCCAGG GTACCCCAGAGCCCCAAAGCACTGCATGGCCCAGCACACCCCAAGGTCCA GGGCACCTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp2 HG02809.hp1 others(2): Show HG01884.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0021 a0001c0001t0001g0253 a0001c0012t0001g0059 a0001c0001t0001g0021 a0001c0001t0001g0253 a0001c0012t0001g0059	5	364	0.0137	558	c.418 others(575): Show c.418-4712_418-4711insAAGGTGCCCTGGACCTTGGGGTGTGCTG GGCCATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCC TGGAACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCC TGGGCTGTGGGATACTCTGGGCTTTGGGGTGCCCTGGACCTGGGGTACCC TGGGCTTTAAGGTGCCCTGGACCTTGGGGTGTGCTGGGCCATGCAGTGCT TTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCCTGGAACTGGGGTGC CCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCCTGGGCTGTGGGATA CTCTGGGCTTTGGGGTGCCCTGGACCTGGGGTACCCTGGGCTTTAAGGTG CCCTGGACCTTGGGGTGTGCTGGGCCATGCAGTGCTTTGGGGCTCTGGGG TACCCTGGGCTTTGGGGTGCCCTGGAACTGGGGTGCCCTGGGTCTTGGAG TATGCTGGGCCATGCAGTGCCCTGGGCTGTGGGATACTCTGGGCTTTGGG GTGCCCTGGACCTGGGGTACCCTGGGCTTT	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
KLK7_chr19_50971468_50988917	50981369	A A	AGGGGGAC others(551): Show AGGGGGACAGAGCCCCAGGGAGAGGGGGTACAGAGGCCCAGGGAGAGGGG GACAGAGATCCAGAGAGAGAGGGACAGAGACCCAGAGAGAGAGGGACAGA GACCCAGAGAGAGGGGAACAGAGACCAGAGAGAGAGGGGGACAGAGCCCC AGAGAGAGGAAGACAGAGAGCCAGGGAGAGAGGGGGACAGAGCCCCAGGG AGAGGGGGACAGAGATCCGAGAGAGAGGAGGGGGAACAGAGACCAGAGAG AGAGGGGAACAGAGACCCAGAGAGAGAGGGACAGAGACCCACAGAGAGAG GAGGGGGAACAGAGACCAGAGAGAGAGGGTGACAGAGACCCAGAGAGAGA GGGTGACAGAGACCCAGAGAGAGAGGGACAGAGACCAGAGAGAGAGGAGG GGGAACAGAGACCAGAGAGAGAGGGGGACAGAGACCCAGAGAGAGAGGGA CAGAGACCCAGAAAGAGAGGAGGGGGAACAGAGACCCAGAGAGAGAGGGG GACAGAGACACAGAGGGGAACAGAGATCCAGAGAGAAAGGCAGACAGAGA CCCAGAGAG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	384	0.0026	558	c.221 others(573): Show c.221+397_221+398insCTCTCTGGGTCTCTGTCTGCCTTTCTCTCT GGATCTCTGTTCCCCTCTGTGTCTCTGTCCCCCTCTCTCTCTGGGTCTCT GTTCCCCCTCCTCTCTTTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCT GTCCCCCTCTCTCTCTGGTCTCTGTTCCCCCTCCTCTCTCTCTGGTCTCT GTCCCTCTCTCTCTGGGTCTCTGTCACCCTCTCTCTCTGGGTCTCTGTCA CCCTCTCTCTCTGGTCTCTGTTCCCCCTCCTCTCTCTGTGGGTCTCTGTC CCTCTCTCTCTGGGTCTCTGTTCCCCTCTCTCTCTGGTCTCTGTTCCCCC TCCTCTCTCTCGGATCTCTGTCCCCCTCTCCCTGGGGCTCTGTCCCCCTC TCTCCCTGGCTCTCTGTCTTCCTCTCTCTGGGGCTCTGTCCCCCTCTCTC TCTGGTCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGT CTCTGTCCCTCTCTCTCTGGATCTCTGTCCCCCTCTCCCTGGGCCTCTGT ACCCCCTCTCCCTGGGGCTCTGTCCCCC	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	3/5			chr19	TogoVar
LGR6_chr1_202188799_202324761	202205410	C C	CCAGCACA others(551): Show CCAGCACACACACCTAACACACACCTCCTTCAAACACACACCTCCACACA CACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACA CACACCTAACACACACCTCCTTCAAACACACACACACCTAACACACACCT CCTTCAAACACACACCCTCCAAACACACACACCTCCTTCAAGCACACACA CACCTCCAAACACACACACACCTAACACACACCTCCAAGCACACACACAC CTCCAAACACACACACACCCAACACACGCCTCCTTCAAACACACACATCT CCAAACACACACACACAGCTAACACACACCTTCTTCAAACACACACACCC CTCCAAACACACACACACACCTCCTTCAAACACACACACCCTCCAAACAC ACACACCTCCTTCAAACACACACACACCTCCAAAGACACACACACACCTA ACACACACCTCCAGGCACACACACACACCTCCAAACACACACACACCTAA CACACACCTCCTCCAAACACACACACACCTCCACACACATACCTAACACA CACCTCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG02976.hp1 others(4): Show HG02630.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03579.hp1 NA18522.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0024 others(1): Show a0001c0001 a0002c0002 a0003c0024 a0004c0003	a0001c0001t0004 a0002c0002t0003 a0003c0024t0004 others(1): Show a0001c0001t0004 a0002c0002t0003 a0003c0024t0004 a0004c0003t0003	a0001c0001t0004g0056 a0002c0002t0003g0016 a0002c0002t0003g0025 others(4): Show a0001c0001t0004g0056 a0002c0002t0003g0016 a0002c0002t0003g0025 a0002c0002t0003g0094 a0003c0024t0004g0022 a0004c0003t0003g0023 a0004c0003t0003g0024	7	262	0.0267	558	c.212 others(577): Show c.212+11211_212+11212insGCACACACACCTAACACACACCTCCT TCAAACACACACCTCCACACACACACACACCTAACACACACCTCCTTCAA ACACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACAC ACACACACCTAACACACACCTCCTTCAAACACACACCCTCCAAACACACA CACCTCCTTCAAGCACACACACACCTCCAAACACACACACACCTAACACA CACCTCCAAGCACACACACACCTCCAAACACACACACACCCAACACACGC CTCCTTCAAACACACACATCTCCAAACACACACACACAGCTAACACACAC CTTCTTCAAACACACACACCCCTCCAAACACACACACACACCTCCTTCAA ACACACACACCCTCCAAACACACACACCTCCTTCAAACACACACACACCT CCAAAGACACACACACACCTAACACACACCTCCAGGCACACACACACACC TCCAAACACACACACACCTAACACACACCTCCTCCAAACACACACACACC TCCACACACATACCTAACACACACCTCCTTCA	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LOC114841035_chr11_64236095_64249132	64237115	G G	GGGAGAGG others(551): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGACA GAGACAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	330	0.0030	558	c.-41 others(569): Show c.-4165_-4164insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGACAGACAGAGACAGAC	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3979		chr11	TogoVar
MAN2B2_chr4_6570189_6628362	6579042	T T	TCACCACC others(551): Show TCACCACCATCACCACCACCATCACCATCACCATCACCACCATCACCACC ATCACCACCACCATCACCATCACCATCACCACCACCACCACCATCACCAC CACCATCACCATCACCAGCACCACCACCACCATCACCATCACCACCACCA CCCTCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACC ACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCCTCACCACCATCACCACCACCACCATCACCACCACCATCA CCATCACCACCACCATCACCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCATCACCACCACCATCACCATCACCACCACCACCACCAT CACCATCACCAGCACCACCACCATCACCACCACCACCACCACCACCACCA TCACCACCACCACCCTCACCACCATCACCACCACCACCATCACCACCACC ATCACCATCACCACCACCATCACCACCACCACCACCATCACCACCACCAC CACCACCAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0110 a0002c0002t0004g0110	1	362	0.0028	558	c.391 others(573): Show c.391+576_391+577insTCACCACCATCACCACCATCACCACCACCA TCACCATCACCATCACCACCACCACCACCATCACCACCACCATCACCATC ACCAGCACCACCACCACCATCACCATCACCACCACCACCCTCACCACCAT CACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCCTC ACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACCAC CATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA TCACCACCACCATCACCATCACCACCACCACCACCATCACCATCACCAGC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCAC CCTCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCA CCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCATCACCACCACCATCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579045	C C	CCACCATC others(551): Show CCACCATCACCACCACCATCACCATCACCATCACCACCATCACCACCATC ACCACCACCATCACCATCACCATCACCACCACCACCACCATCACCACCAC CATCACCATCACCAGCACCACCACCACCATCACCATCACCACCACCACCC TCACCACCATCACCACCACCACCACCACCACCACCATCACCATCACCACC ACCATCACCACCACCATCACCATCACCACCACCACCACCACCATCACCAC CACCACCCTCACCACCATCACCACCACCACCATCACCACCACCATCACCA TCACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCATCACCACCACCATCACCATCACCACCACCACCACCATCAC CATCACCAGCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCACCACCCTCACCACCATCACCACCACCACCATCACCACCACCATC ACCATCACCACCACCATCACCACCACCACCACCATCACCACCACCACCAC CACCACCAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	362	0.0028	558	c.391 others(573): Show c.391+576_391+577insTCACCACCATCACCACCATCACCACCACCA TCACCATCACCATCACCACCACCACCACCATCACCACCACCATCACCATC ACCAGCACCACCACCACCATCACCATCACCACCACCACCCTCACCACCAT CACCACCACCACCACCACCACCACCATCACCATCACCACCACCATCACCA CCACCATCACCATCACCACCACCACCACCACCATCACCACCACCACCCTC ACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACCAC CATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA TCACCACCACCATCACCATCACCACCACCACCACCATCACCATCACCAGC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCAC CCTCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCA CCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCATCACCACCACCATCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579045	C C	CCACCATC others(551): Show CCACCATCACCACCACCATCACCATCACCATCACCACCATCACCACCATC ACCACCACCATCACCATCACCATCACCACCACCACCACCATCACCACCAC CATCACCATCACCAGCACCACCACCACCATCACCATCACCACCACCACCC TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCATCACCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CACCACCCTCACCACCATCACCACCACCACCATCACCACCACCATCACCA TCACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCATCACCACCACCATCACCATCACCACCACCACCACCATCAC CATCACCAGCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCACCACCCTCACCACCATCACCACCACCACCATCACCACCACCATC ACCATCACCACCACCATCACCACCACCACCACCATCACCACCACCACCAC CACCACCAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02602.hp1 NA18612.hp2 others(5): Show HG02523.hp2 HG02602.hp1 NA18612.hp2 NA18994.hp1 NA19000.hp1 NA19005.hp1 NA19065.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0001 a0002c0004t0002 a0001c0001t0001 a0002c0002t0001 a0002c0004t0002	a0001c0001t0001g0115 a0002c0002t0001g0013 a0002c0002t0001g0051 others(4): Show a0001c0001t0001g0115 a0002c0002t0001g0013 a0002c0002t0001g0051 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0004t0002g0112	8	362	0.0221	558	c.391 others(573): Show c.391+576_391+577insTCACCACCATCACCACCATCACCACCACCA TCACCATCACCATCACCACCACCACCACCATCACCACCACCATCACCATC ACCAGCACCACCACCACCATCACCATCACCACCACCACCCTCACCACCAT CACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCCTC ACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACCAC CATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA TCACCACCACCATCACCATCACCACCACCACCACCATCACCATCACCAGC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCAC CCTCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCA CCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCATCACCACCACCATCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(551): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATAGATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATTCATATATATATTCATATATATTCA TATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATTCA TATATATATTCATATATATATATATTCATATATATATTCATATATACATA TATATATTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0145 a0001c0001t0011g0145	1	191	0.0052	558	c.343 others(575): Show c.343-4412_343-4411insGAATATATATATGTATATATGAATATAT ATATGAATATATATATATATGAATATATATATGAATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATGAATATATATGAATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT CTATATATGAATATATATATGAATCTATATATGAATATATATGAATCTAT ATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MEGF6_chr1_3482951_3616508	3583414	G G	GCAGCCAC others(551): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCA GACAACCCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0018 a0018	a0018c0013 a0018c0013	a0018c0013t0004 a0018c0013t0004	a0018c0013t0004g0191 a0018c0013t0004g0191	1	292	0.0034	558	c.377 others(575): Show c.377-3486_377-3485insTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MICAL3_chr22_17782649_18029561	17876838	G G	GGGAGGTT others(551): Show GGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAG CTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAG GGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGA TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGG GAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGG AGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTT AGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGA GATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTA GGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAG GTTAGGGAGATTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAG GGAGGTTAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0113 a0002c0003t0002g0113	1	274	0.0037	558	c.224 others(577): Show c.2242-4816_2242-4815insATAACCTCCCTAACCTCCATAACCTC CATAACTTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAA CCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAAGCTCC CTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAAC TGCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCC TAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCTTAACC TCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCT CCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATA ACTGCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTC CCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCCTAA CCTCCATAACTTCCCTAACCTCCTTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876914	G G	GGTTAGGG others(551): Show GGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGAGAAGTTA TGGAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGAAGTTATGGAG GTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAGG TTAGAGAAGTTATGGAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGG GAAGTTATGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGG AGGTTATGGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTACGGAGGTT ATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTA TGGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTACGGAGGTTATGGAG GTTATGGCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0036 a0002c0006t0001g0036	1	274	0.0037	558	c.224 others(577): Show c.2242-4892_2242-4891insTGCCATAACCTCCATAACCTCCGTAA CCTCCCTAACCTCCATAACTTCTCTAACCTCCATAACCTCCATAACTTCC CTAACCTCCATAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAAC CTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCGTAACCTCCC TAACCTCCATAACTTCTCTAACCTCCATAACCTCCATAACTTCCCTAACC TCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACCTCCCT AACCTCCATAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCT CCGTAACCTCCCTAACCTCCATAACTTCTCTAACCTCCATAACCTCCATA ACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACCTC CATAACCTCCCTAACCTCCATAACCTCCATAACCTCCATAACTTCCCTAA CCTCCATAACCTCCGTAACCTCCCTAACCTCCATAACTTCTCTAACCTCC ATAACCTCCATAACTTCCCTAACCTCCCTAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877126	T T	TGGAGGTT others(551): Show TGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGG GAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGT GAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGG AGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTG AGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGA GGTTAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGA GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAG GGAGGTGAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0143 a0002c0010t0001g0143	1	274	0.0037	558	c.224 others(577): Show c.2242-5104_2242-5103insCTCACCTCCCTAACCTCCCTAACCTC CCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAA CCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCC CTCACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAAC CTCCCTCACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCA TAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACC TCCCTCACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCT AACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCT CCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877189	T T	TGGAGGTT others(551): Show TGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGCTTAT GGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTATGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGG GAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAAGTTATGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGA AGGTTAGGGAAGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTT AGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGA GGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTA GGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAG GGAGGTTAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0017 a0010c0018t0001g0017	1	274	0.0037	558	c.224 others(577): Show c.2242-5167_2242-5166insTTAACCTCCCTAACCTCCATAAGCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAA CCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCC ATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACTTCCCTAAC CTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCC TCACCTCCCTAACCTCCATAACTTCCCTAACCTTCATAACCTCCCTAACC TCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCT AACCTTCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCT CCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATA ACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTC CATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAA TCTCCCTAACCTCCATAACTGCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432874	A A	AGAGAAAG others(551): Show AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp1 NA18906.hp1 HG02109.hp2 HG03098.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0005g0010 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0005g0010	3	250	0.0120	558	c.225 others(575): Show c.225-2157_225-2156insAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500074	A A	AGGTGGTG others(551): Show AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGG GTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGT GGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGA TGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTG ATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGATGATGGT GGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGG TGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGT GGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGG TGGCGGTGGTGATGGGGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTG ATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGT GATGGGGGT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0082 a0001c0005t0001g0082	1	250	0.0040	558	c.748 others(575): Show c.748+1731_748+1732insATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGT GGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGA TGGAGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTG GTGGTGATGATGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGT GATGGAGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTG ATGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGT GATGGTGATGGAGGTGGCGGTGGTGATGGGGGTGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATG GAGGTGGCGGTGGTGATGGGGGTGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500145	G G	GTGGGGGT others(551): Show GTGGGGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGG TGGAGGTGGTGGTGGTGGTGAGGGAGGTGGTGATGGGGGTGGTGGTGGTG ATGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGAT GGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGG TGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTG GTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGG TGGAGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTG ATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGATGG AGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0207 a0001c0001t0015g0207	1	250	0.0040	558	c.748 others(575): Show c.748+1803_748+1804insATGGTGATGGAGGTGGTGGTGGTGGTGG TGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTG GCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGAGGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGG TGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGGTGG TGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTG GCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGATGG AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTG GTGGTGGTGATGGAGGTGGTGATGGGGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(551): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGT CGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAG CCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGC CGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCACGTCC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	256	0.0039	558	c.241 others(577): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(551): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGGTC GGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAG CCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGC CGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCACGTCC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	256	0.0039	558	c.241 others(577): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCACACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(551): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCCGCCCGGCCAG CCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGC CGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCACGTCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	256	0.0039	558	c.241 others(577): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG GCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSLN_chr16_755734_773862	767629	A A	AGGGGCGC others(551): Show AGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGA GGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGG GTGTGGAGGGGGGTGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGG GGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGG GGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTG GAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGC ACGTGGAGGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGT GTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAG GGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGT GTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGG GTGTGGAGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0145 a0011c0014t0001g0145	1	388	0.0026	558	c.159 others(575): Show c.1596+173_1596+174insGGGGCGCGTGGGGGGGGCGCATGGGGGG GCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCA TGGGGGGGTGTGGAGGGGGGTGCGTGGAGGGGGCACGTGGAGGGGTCGCG TGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGC GCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGG GCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGG AGGGGGCACGTGGAGGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGG AGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCG TGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGT GGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGG GGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCA TGGGGGGGTGTGGAGGGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(551): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGG AGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGATGGAG GGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGG TGTCCAGCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0150 a0150	a0150c0093 a0150c0093	a0150c0093t0001 a0150c0093t0001	a0150c0093t0001g0119 a0150c0093t0001g0119	1	249	0.0040	558	c.148 others(577): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTG CTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCC CAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGTGC TGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCC CAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCT GGACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCA GCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCCAGCCCCCTCCATCC ATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTG GACGCCTTCCCAGCCCCTCCACTCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATT others(551): Show TATATATTTAAATATAAGTATATATATAAATATATATATTTATATATAAG TATATATATAAATATATATATTTATATATAAGTATATATATATTTATATA TAAGTATATATATATATTTATATATAAGTATATATATATATTTATATATA AGTATATATATATATTTATATATAAGTATATATATAAATATATATATTTA TATATAAGTATATATATATTTATATATAAGTATATATAAATATATATATT TATATATAAGTGTATATATATAAATATATATATTTATATATAAGTATATA TAAATATATATATTTATATATAAGTATATATAAATATATATATTTATATA TAAGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATA TATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATA TAAATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0118 a0005c0005t0008g0118	1	326	0.0031	558	c.358 others(575): Show c.358+3439_358+3440insTTAAATATAAGTATATATATAAATATAT ATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTAT ATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATAT ATATATTTATATATAAGTATATATATATATTTATATATAAGTATATATAT AAATATATATATTTATATATAAGTATATATATATTTATATATAAGTATAT ATAAATATATATATTTATATATAAGTGTATATATATAAATATATATATTT ATATATAAGTATATATAAATATATATATTTATATATAAGTATATATAAAT ATATATATTTATATATAAGTATATATAAATATATATATTTAAATATAAGT ATATATAAATATATATATTTAAATATAAGTATATATATAAATATATATTT AAATATAAGTATATATAAATATATATTTAAATATAAGTATATATATAAAT ATATATTTAAATATAAGTATATATATAAATATAAGTATATATATAAATAT ATATTTAAATATAAGTATATATAAATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATT others(551): Show TATATATTTAAATATAAGTATATATATAAATATATATATTTATATATAAG TATATATATAAATATATATATTTATATATAAGTATATATATATTTATATA TAAGTATATATATATATTTATATATAAGTATATATATATATTTATATATA AGTATATATATATATTTATATATAAGTATATATATAAATATATATATTTA TATATAAGTATATATATATTTATATATAAGTATATATAAATATATATATT TATATATAAGTGTATATATATAAATATATATATTTATATATAAGTATATA TAAATATATATATTTATATATACGTATATATAAATATATATATTTATATA TAAGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATA TATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATA TAAATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19087.hp2 NA18986.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0033 a0001c0001t0001g0034	2	326	0.0061	558	c.358 others(575): Show c.358+3439_358+3440insTTAAATATAAGTATATATATAAATATAT ATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTAT ATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATAT ATATATTTATATATAAGTATATATATATATTTATATATAAGTATATATAT AAATATATATATTTATATATAAGTATATATATATTTATATATAAGTATAT ATAAATATATATATTTATATATAAGTGTATATATATAAATATATATATTT ATATATAAGTATATATAAATATATATATTTATATATACGTATATATAAAT ATATATATTTATATATAAGTATATATAAATATATATATTTAAATATAAGT ATATATAAATATATATATTTAAATATAAGTATATATATAAATATATATTT AAATATAAGTATATATAAATATATATTTAAATATAAGTATATATATAAAT ATATATTTAAATATAAGTATATATATAAATATAAGTATATATATAAATAT ATATTTAAATATAAGTATATATAAATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYO1F_chr19_8515778_8582442	8543948	C C	CTGGTGGT others(551): Show CTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTG GTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGG TGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGCTG GTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGT GGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGCTGGTG GTGGTGGTGGTGCTGGTGCTGGTGCTGGTGGTGGTGGTGCTGGTGCTGGT GCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	342	0.0029	558	c.152 others(575): Show c.1524+348_1524+349insTCACCATCACCACCACCACCACCACCAC CACCAGCACCACCACCACCACCACCACCAGCACCAGCACCAGCACCACCA CCACCAGCACCAGCACCAGCACCACCACCACCACCAGCACCACCACCACC ACCACCACCATCACCATCACCACCACCATCACCACCACCACCACCACCAC CACCACCACCACCACCAGCACCACCAGCACCACCACCACCACCACCACCA CCACCAGCACCACCAGCACCACCACCACCACCAGCACCACCACCACCACC AGCACCACCAGCACCACCACCACCACCACCACCACCACCAGCACCACCAG CACCACCACCACCACCAGCACCACCAGCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCATCACCACCACCACCACCACCAGCACCACC AGCACCACCACCATCACCACCACCACCACCACCATCACCATCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCACCAGCACCACCA GCACCACCACCACCACCACCACCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYT1L_chr2_1784113_2336275	2253725	G G	GGCAAGTC others(551): Show GGCAAGTCGGAAACAAGAAGCGGGGCAGGAGAGCAAGTCGGAAACAGGAA GCGGGGCAGGAGGGCAAGTCGGAAACAGGAAGCGGGGCAGGAGAGCAAGT CGGAAACAAGAAGCGGGGCAGGAGAGCAAGTCGGAAACAGGAAGCGGGGC AGGAGGGCAAGTCGGAAACAGGAAGCGGGGCAGGAGGGCAAGTCGGAAAC AGGAAGCGGGGCAGGAGGGCAAGTCGGAAACAGGAAGCGGGGCAGGAGGG CAAGTCGGAAACAGGAAGCGGGGCAGGAGAGCAAGTCGGAAACAGGAAGC GGGGCAGGAGGGCAAGTCGGAAACAGGAAGCGGGGCAGGAGGGCAAGTCG GAAACAGGAAGCGGGGCAGGAGGGCAAGTCGGAAACAGGAAGCGGGGCAG GAGGGCAAGTCGGAAACAGGAAGCGGGGCAGGAGGGCAAGTCGGAAACAG GAAGCGGGGCAGGAGGGCAAGTCGGAAACAGGAAGCGGGGCAGGAGAGCA AGTCGGAAACAGGAAGCGGGGCAGGAGAGCAAGTCGGAAACAGGAAGCGG GGCAGGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0014 a0001c0012t0014	a0001c0012t0014g0004 a0001c0012t0014g0004	1	104	0.0096	558	c.-42 others(579): Show c.-421+30678_-421+30679insTCTCCTGCCCCGCTTCCTGTTTCC GACTTGCTCTCCTGCCCCGCTTCCTGTTTCCGACTTGCTCTCCTGCCCCG CTTCCTGTTTCCGACTTGCCCTCCTGCCCCGCTTCCTGTTTCCGACTTGC CCTCCTGCCCCGCTTCCTGTTTCCGACTTGCCCTCCTGCCCCGCTTCCTG TTTCCGACTTGCCCTCCTGCCCCGCTTCCTGTTTCCGACTTGCCCTCCTG CCCCGCTTCCTGTTTCCGACTTGCCCTCCTGCCCCGCTTCCTGTTTCCGA CTTGCTCTCCTGCCCCGCTTCCTGTTTCCGACTTGCCCTCCTGCCCCGCT TCCTGTTTCCGACTTGCCCTCCTGCCCCGCTTCCTGTTTCCGACTTGCCC TCCTGCCCCGCTTCCTGTTTCCGACTTGCCCTCCTGCCCCGCTTCCTGTT TCCGACTTGCTCTCCTGCCCCGCTTCTTGTTTCCGACTTGCTCTCCTGCC CCGCTTCCTGTTTCCGACTTGCCCTCCTGCCCCGCTTCCTGTTTCCGACT TGCTCTCCTGCCCCGCTTCTTGTTTCCGACTTGC	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158667532	C C	CTACTGGG others(551): Show CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCC TCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTAC TGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTA CCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGC CCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCAC TACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGC CTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCTGCCCGCC TTACCCACT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	378	0.0027	558	c.148 others(577): Show c.1480-2783_1480-2782insAGTGGGTAAGGCGGGCAGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCA GTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGG AGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAG TGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGA CCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGG CGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGT AAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGAGGGCGGAGGGACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(551): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGT ATGTATACTGTGTATGCAGTATGTATACTGTATATATACACTATACAGTA TGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACA CAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACA CACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATA CACACAGTA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0209 a0001c0004t0003g0209	1	362	0.0028	558	c.-75 others(577): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATAT ATACAGTATACATACTGCATACACAGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATA CTGTGTATATATACGGTATACATACATACAGTATACATACATACAGTATA CATACATACAGTATACATGCTGTATACAGTATACATGCTGTACACAGTAT ACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar

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Search Results (Total: 10000 hits)