JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DEAF1_chr11_639233_700222	665021	G G	GAGTCCTG others(427): Show GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGTGTCACACTCGGTCACTCTA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	345	0.0029	434	c.150 others(453): Show c.1503+9514_1503+9515insTAGAGTGACCGAGTGTGACACCCTGT CCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DECR2_chr16_396885_417482	397652	C C	CGGGGTGG others(427): Show CGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGG GGTGGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	367	0.0027	434	c.-43 others(445): Show c.-4312_-4311insGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4232		chr16	TogoVar
DIP2B_chr12_50499985_50753657	50593789	T T	TCCCCTCC others(427): Show TCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCT CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCC CCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCCCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCCCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0038 a0001c0019t0038	a0001c0019t0038g0190 a0001c0019t0038g0190	1	284	0.0035	434	c.101 others(453): Show c.101-32186_101-32185insCCCTCCCCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCT CCCCTCCCCTCCCCTCTCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCCCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCCCCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	516740	G G	GGAAGGGA others(427): Show GGAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGAGGGGGGAAGG GGCGAAGGGGAAGGGGGTAAGGTGGACAGTGGGACAGGGGAAGGGGGTAA GGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGA GGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGACAGGGGGTAGGGTGGGA GGGGGGACAGGGGGTAGGGTGGGAGGGGGGACAGGGGGTAGGGTGGGAGG GGGGGGACAGGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGGGGGG GGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAC GGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGACACGGGGTAG GGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0014 a0001c0019t0006g0014	1	88	0.0114	434	c.86- others(451): Show c.86-30211_86-30210insGTCCCCCCCCACCCTACCCCCTGTCCCC CCCCACCCTACCCCGTGTCCCCCCCACCCTACCCCCTGTCCCCCCCCACC CTACCCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCC CCTGTCCCCCCCCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCCTG TCCCCCCCCTCCCACCCTACCCCCTGTCCCCCCTCCCACCCTACCCCCTG TCCCCCCTCCCACCCTACCCCCTGTCCCCCCTCCCACCCTACCCCCTGTC CCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGT CCCCCCCTTACCCCCTTCCCCTGTCCCACTGTCCACCTTACCCCCTTCCC CTTCGCCCCTTCCCCCCTCCCCCTTTCCCCTCCCTTCCCCCCTTTCCCCT CCCTTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
EEF1A2_chr20_63483014_63504083	63492466	A A	AGAGATGG others(427): Show AGAGATGGGATGGATGGATGGATGGATTGACAGAAGGATGGATGGGTGGG GAGGTGGATGGATGGATTGAAGGATGGATGGGTGGGGACATGGATGGATG GATGGATGGATGGATGGATGGATGGACAGAAGGATGTATGGGTGGGGAGG TGGGTGGATAGATGGATGGATGGATGGATGGGGAAATGGATGGATGGAAG GATGGATGGATAGGGAGGTGGGGTGGATGGATGGATGGATGGATGTACAG AAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAATGGATGGATGGAT AGATAGAAGGATGGATGGGTGGGACAATAGATGGATGGATAGAGAGAAGG ATGGATGGGTGGGGAGATGGATGGGATGGATGGATGGATAGAGAGAAGGA TGGATGGTTGAGACAATGGATGGATGGATGGATGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0008 a0003c0012t0008	a0003c0012t0008g0137 a0003c0012t0008g0137	1	374	0.0027	434	c.772 others(449): Show c.772+670_772+671insCCATCCATCCATCCATCCATTGTCTCAACC ATCCATCCTTCTCTCTATCCATCCATCCATCCCATCCATCTCCCCACCCA TCCATCCTTCTCTCTATCCATCCATCTATTGTCCCACCCATCCATCCTTC TATCTATCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCA TCCTTCTGTACATCCATCCATCCATCCATCCACCCCACCTCCCTATCCAT CCATCCTTCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCC ACCCACCTCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCAT CCATCCATCCATCCATGTCCCCACCCATCCATCCTTCAATCCATCCATCC ACCTCCCCACCCATCCATCCTTCTGTCAATCCATCCATCCATCCATCCCA TCTC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(427): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGGAGGGAGGGAA GGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGGGAGGGGAGG AGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAG GGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAG GGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02723.hp1 HG02895.hp1 others(6): Show HG01496.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03453.hp2 HG03516.hp1 NA18906.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0002 a0007c0007t0001 a0007c0007t0002	a0007c0007t0001g0154 a0007c0007t0001g0155 a0007c0007t0001g0156 others(6): Show a0007c0007t0001g0154 a0007c0007t0001g0155 a0007c0007t0001g0156 a0007c0007t0001g0157 a0007c0007t0001g0158 a0007c0007t0001g0159 a0007c0007t0001g0160 a0007c0007t0002g0004 a0007c0007t0002g0005	9	290	0.0310	434	c.757 others(451): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCT TCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCCCTCC CTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCCC CTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCC CTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCC ATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
FOXP1_chr3_70949708_71588728	71435565	A A	AAGGGACG others(427): Show AAGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGA GGGAGGGAGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAAGGGAC GGAGGGAGGGAAGGAAGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGG AAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGA GGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0016 a0001c0001t0009g0016	1	96	0.0104	434	c.-16 others(455): Show c.-168+57860_-168+57861insCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCTTCCT TCCCTCCCTCCGTCCCTTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGT CCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCC CTCCGTCCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FTCD_chr21_46131779_46160579	46145758	T T	TCCCCCTC others(427): Show TCCCCCTCCCCGCCCTCCCCCCCAACAGCGCCCTCCCCCCAACAACTGCG CCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAA CAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTT CCCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCT CCCCCCAACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAAC AGCGCCTTCCCCCCACCCCGCGCGCTCCCCCCAACAGCGCCCTCCCCCCA ACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCC TCCCCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCC TTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0219 a0001c0002t0008g0219	1	230	0.0044	434	c.109 others(449): Show c.1098+59_1098+60insGAGGGCGCTGTTGGGGGGAGGGCGGGGAGG GGGAAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGCGCTGTTGG GGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGC GCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGCGCGCGGGGTGGGGGGAAG GCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCACAGTTGTTG GGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGCGCGGGGTG GGGGGAAGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGC AGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGG GAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGGAGGGCGGGGAG GGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(427): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03017.hp1 HG03492.hp2 HG01257.hp1 HG03017.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0026 a0001c0001t0002 a0001c0001t0004 a0001c0001t0026	a0001c0001t0002g0074 a0001c0001t0004g0064 a0001c0001t0026g0071 a0001c0001t0002g0074 a0001c0001t0004g0064 a0001c0001t0026g0071	3	204	0.0147	434	c.240 others(453): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GET4_chr7_871554_901436	890415	C C	CGGGGTCT others(427): Show CGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGGGCGAGCGGGTGTCAGGACGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGAGAGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0271 a0001c0008t0001g0271	1	384	0.0026	434	c.467 others(449): Show c.467-510_467-509insGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGGGCGAGCGGGTGTCAGGACGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGTGGGTGT TGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GJB3_chr1_34776214_34791364	34777729	A A	ATTCACAA others(427): Show ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCC ACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCACCTCCGCCATCACACACATTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACAT TCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGC CATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCACCCC AGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCCTC CCACACCACCCCAGCCATCTCCGCCATCACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	434	c.-40 others(445): Show c.-4075_-4074insTTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCACCTCCACCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCGCCATCACACA CATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTC CGCCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGC CTCCCACACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCACA CATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACG	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3484		chr1	TogoVar
GMDS_chr6_1618806_2250605	1898081	C C	CTTGCCAT others(427): Show CTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACACCT ATCCTGGCCTCCGTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCA TCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACACCTATCCTGG CCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGA CACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCT TGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACACCTAC CCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATC CTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCC ACCCTTGCCATCCTGGACACCTATCCTGGCCTCCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	166	0.0060	434	c.771 others(453): Show c.771+32021_771+32022insCGGAGGCCAGGATAGGTGTCCAGGAT GGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATA GGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGG GAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCC AGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCA GGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGG CAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGG TGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAACGGA GGCCAGGATAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAG GATGGCAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1898140	T T	TCCCTTGC others(427): Show TCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACA CCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTG CCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCC TGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCT GGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCAC CCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACC TATCCTGGCCACCCTTGCCATCCTGGACACCTACCCTGGCCACCCTTGCC ATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTG GCCTCCCTTGCCATCCTGGACACCTATCCTGGCCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	166	0.0060	434	c.771 others(453): Show c.771+31962_771+31963insTGGCCAGGATAGGTGTCCAGGATGGC AAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGT GTCCAGGATGGCAAGGGTGGCCAGGGTAGGTGTCCAGGATGGCAAGGGTG GCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGG ATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGG TAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAA GGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGT CCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGC CAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGAT GGCAAGGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(427): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTGCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCTTCCCCTCCTTCCCC TTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCC CACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCC TCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCC CCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG04115.hp1 HG03490.hp1 HG03492.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0228 a0001c0001t0003g0236 a0001c0001t0003g0237	3	290	0.0103	434	c.972 others(449): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTT CCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCT CCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTC CCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTT CCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCT CCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(427): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCTTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCC TCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCC CCTTTCCCATTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01358.hp2 HG01255.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0013 a0001c0001t0002g0016	2	290	0.0069	434	c.972 others(449): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCTTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTTCCCCTCCTTCCCCCT CCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTC CCCCTCCCCTCCTTCCCCTTTCCCATTCCCCTCCTTCCCCTTTCCCCCTT CCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCT CCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPR173_chrX_53043789_53085615	53074119	T T	TTTTATTC others(427): Show TTTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATAT ATAAATATATATAAATATACATGTATATTATTATTCAATTAAATAAATAT AATAAATATACATGTATATTTATTCATATATAAATATATGTAAATATACA TGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTTATT CATATATAAATATATGTAAATATACATGTATATTTTATTCATATATAAAT ATATGTAAATATACATGTATATTTATTCATATATAATATATGTAAATATA CATGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTTA TTCATATATAAATATATGTAAATATACATGTAATTTATTCATATATAAAT ATATGTAAATATACATGTATATTTATTCATATAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0029 a0005c0008t0029	a0005c0008t0029g0133 a0005c0008t0029g0133	1	208	0.0048	434	c.-97 others(451): Show c.-97-2406_-97-2405insTTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT ATTATTCAATTAAATAAATATAATAAATATACATGTATATTTATTCATAT ATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGT AAATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGT ATATTTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCA TATATAATATATGTAAATATACATGTATATTTATTCATATATAAATATAT GTAAATATACATGTATATTTATTCATATATAAATATATGTAAATATACAT GTAATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCA TATAGA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1			chrX	TogoVar
GRIN2A_chr16_9748408_10187428	9848749	T T	TTTTAAAT others(427): Show TTTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTT TATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAA AATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATAT TTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACAC TGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATA TATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTA TATATTTAAATATATAAAATACACTGTTTTATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02132.hp1 HG02155.hp2 others(5): Show HG00735.hp1 HG02132.hp1 HG02155.hp2 HG03516.hp1 HG03704.hp1 NA18952.hp2 NA18983.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0024 a0001c0001t0044 a0001c0008t0003	a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0003g0010 others(5): Show a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0003g0010 a0001c0001t0005g0023 a0001c0001t0010g0044 a0001c0001t0024g0060 a0001c0001t0044g0017 a0001c0008t0003g0065	8	168	0.0476	434	c.132 others(453): Show c.1328+1006_1328+1007insTATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTG TATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATA TATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTA TATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAA CAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTT AAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTA TTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATA TAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATA TATTTAAA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRIN2A_chr16_9748408_10187428	9849139	C C	CACTGTTT others(427): Show CACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAA ATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTT TTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATA AAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATA TTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACA CTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAAT ATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTT ATATATTTAAATATATAAAATATACTGTTTTATATATTTAAATATATAAA ATACACTGTTTTATATATTTAAATATATAAAATAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0016 a0001c0003t0026g0016	1	168	0.0060	434	c.132 others(451): Show c.1328+616_1328+617insATATTTTATATATTTAAATATATAAAAC AGTGTATTTTATATATTTAAATATATAAAACAGTATATTTTATATATTTA AATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTAT TTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATAT AAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATAT ATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAG TGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAA TATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTT TATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAA AACAGT	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(427): Show AGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGC GGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGCGGGGC TGGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCAGGAGCGGGTGAGGG GCGGGGGAGGGCCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGG GCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGCGG GGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGCGGGGCTG GGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGGAGGGGGAGGGGA GAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	288	0.0035	434	c.-39 others(443): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCC AGCCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCC CGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCC CCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGGCCCTCCCCCGCC CCTCACCCGCTCCTGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCCAG CCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCCCG CTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCCCC TCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(427): Show AGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGC GGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGCGGGGC TGGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCAGGAGCGGGTGAGGG GCGGGGGAGGGCCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGG GCGGGGCTGGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGCG GGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGCGGGGCT GGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGAGGGGGAGGGGA GAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	288	0.0035	434	c.-39 others(443): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCA GCCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCCC GCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCCAGCCCCGCC CCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGGCCCTCCCCCGCC CCTCACCCGCTCCTGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCCAG CCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCCCG CTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCCCC TCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GTPBP6_chrX_299759_323796	321891	C C	CAAAAAAA others(427): Show CAAAAAAAAAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGG GTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGA GCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCT ACAAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGCTGGGTACCTGT GGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGA GTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAA AAAAAAAAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTC GGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCA TGGGCAATATGGTAAGACCCTATTATCTACAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0031 a0001c0003t0001g0031	1	155	0.0065	434	c.-31 others(445): Show c.-3105_-3104insTTTTTGTAGATAATAGGGTCTTACCATATTGCCC ATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCC CGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTTTTTTT TTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAA CTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGAC CACAGGTACCCAGCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTTTG TAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGG CTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCA CCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3096		chrX	TogoVar
GTPBP6_chrX_299759_323796	322499	A A	AAAAAAAA others(427): Show AAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAATTAGCCTGGTGTGGTGG TGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCT TGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTA TCTACAAAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATC TACAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGC TGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGC CAGCATGGGCAATATGGTAAGACCCTATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0001 a0002c0036t0001	a0002c0036t0001g0071 a0002c0036t0001g0071	1	155	0.0065	434	c.-37 others(445): Show c.-3713_-3712insGTAGATAATAGGGTCTTACCATATTGCCCATGCT GGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTCTTTTTTTTGT AGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGC TCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCAC CCACCACCACGCCCGGCTAATTTTTTTCTTTTTTTTTTTTTTTTTTGTAG ATAATGGGGTCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTC AAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCC ACCACCACACCAGGCTAATTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3704		chrX	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(427): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0119 a0001c0011t0006g0119	1	394	0.0025	434	c.41- others(449): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IGSF9B_chr11_133891438_133961968	133932437	G G	GGAAGCCA others(427): Show GGAAGCCAGGTGGGAGAGCAGACAGAGACAGACACAGGGAAGCCAGGTGG GAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGG GAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GACAGACAGACACAGGGAAGCCAGGTGGGAGAGCA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0050 a0001c0001t0103g0050	1	362	0.0028	434	c.968 others(449): Show c.968-225_968-224insTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGG CTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGTCTGCTCTCCCACCTGG CTTC	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(427): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCG GGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGG GAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGG CGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGC TCTGGAGGGGAGGCGGGGCTCGGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0200 a0001c0004t0011g0200	1	282	0.0036	434	c.623 others(451): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGG AGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGC GGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGG GGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGC TCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGGAGG CGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(427): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATGTACA CACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0192	1	232	0.0043	434	c.-67 others(453): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATGTACACACAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGGATATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
LARS1_chr5_146108034_146187650	146174505	T T	TATATATA others(427): Show TATATATATCCATATATATATATCCATATATATATCCATATATATATATC CATATATATATCCATATATATATCCATATATATATATCCATATATATATC CATATATATATATCCATATATATATCCATATATATATATCCATATATATG GATATATATATATCCATATATATCTATCCATATATATATCCATATATATC TATCCATATATATATCCATATATCTATCCATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0206 a0002c0002t0002g0206	1	284	0.0035	434	c.126 others(451): Show c.126-1732_126-1731insGGATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATGGATAGATATATGGATATATAT ATGGATAGATATATATGGATATATATATGGATAGATATATATGGATATAT ATATATCCATATATATGGATATATATATATGGATATATATATGGATATAT ATATATGGATATATATATGGATATATATATATGGATATATATATGGATAT ATATATGGATATATATATATGGATATATATATGGATATATATATATGGAT ATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS1_chr5_146108034_146187650	146174525	T T	TATATATC others(427): Show TATATATCCATATATATATATCCATATATATATCCATATATATATCCATA TATATATATCCATATATATATCCATATATATATATCCATATATATATCCA TATATATATATCCATATATATATCCATATATATATATCCATATATATGGA TATATATATATCCATATATATCTATCCATATATATATCCATATATATCTA TCCATATATATATCCATATATCTATCCATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATCCATATATATATATCCATATA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0209 a0002c0002t0002g0209	1	284	0.0035	434	c.126 others(451): Show c.126-1752_126-1751insGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATATATGGATATATATATATGGATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATGGATAGATATATGGATATAT ATATGGATAGATATATATGGATATATATATGGATAGATATATATGGATAT ATATATATCCATATATATGGATATATATATATGGATATATATATGGATAT ATATATATGGATATATATATGGATATATATATATGGATATATATATGGAT ATATATATATGGATATATATATGGATATATATATGGATATATATATATGG ATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124471560	A A	ATATATTT others(427): Show ATATATTTATATATATATTTATATATATTTATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATTTATATATATTTATATATATTTATATAT ATTTATATATATATTTTTATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATATTTATATATATTTATATATATATATTTTTATATAT ATTTATATATATTTTTATATATAGTTATATATATTTATATATAGTTATAT ATATTTATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTAT ATATAGTTATATATATAGTTATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	260	0.0039	434	c.125 others(451): Show c.125+9578_125+9579insTTATATATATATTTATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATTTATATATATTT ATATATATTTATATATATTTATATATATATTTTTATATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATATTTATATATATTTATATAT ATATATTTTTATATATATTTATATATATTTTTATATATAGTTATATATAT TTATATATAGTTATATATATTTATATATAGTTATGTATAGTTATATATAG TTATATATATAGTTATATATAGTTATATATATAGTTATATATATATATTT TTATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(427): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACTTACTTACTTACTACATACCCGGGCCACTTACCTACTACACACC CGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTA CACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTAC CTACTACACACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	296	0.0034	434	c.368 others(451): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTGGCCCGGGTATGTAGTAAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LTBP2_chr14_74493183_74617237	74564165	A A	ATATATAT others(427): Show ATATATATATATTTATATATATATTTATATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATATATTTATATATATAT TTATATATATATTTATATATATATATTTATATATATATTTTTATATATAT ATTTATATATATATTTTTATATATATATTTATATATATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATTTATATATATTTTTATATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT TTATATATATTTATATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp1 HG03209.hp2 others(1): Show HG02451.hp2 HG03139.hp1 HG03209.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0039 a0001c0043 a0001c0002 a0001c0039 a0001c0043	a0001c0002t0003 a0001c0039t0003 a0001c0043t0013 a0001c0002t0003 a0001c0039t0003 a0001c0043t0013	a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0039t0003g0073 others(1): Show a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0039t0003g0073 a0001c0043t0013g0072	4	282	0.0142	434	c.831 others(451): Show c.831-8473_831-8472insAATATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATATAAAAATATATATAAATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TATAAATATATATAAATATATATATATAAATATATATATAAAAATATATA TATAAATATATATATAAAAATATATATATAAATATATATATATAAATATA TATATAAATATATATATAAATATATATATATAAATATATATATAAATATA TATATAAATATATATATAAATATATATATATAAATATATATATAAATATA TATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
MAD1L1_chr7_1810795_2237945	1929805	T T	TCCCCTAC others(427): Show TCCCCTACTGACACATCCCACCACCACGTCCCCACTGCCACGTCCCCTCG CCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCC CTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACG TCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGC CACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCA CTGCCACGTCCCCTTGCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCC CGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTC GCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	264	0.0038	434	c.180 others(453): Show c.1807+6881_1807+6882insGACGGGGCGAGGGGACGTGGCAGTGG GGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCA GTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGT GGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGCAAGGGG ACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGA GGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGG GCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTG GGGACGGGGCGAGGGGACGTGGCAGTGGGGACGTGGTGGTGGGATGTGTC AGTAGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(427): Show GCGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTCC CTTCCGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	300	0.0033	434	c.134 others(453): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCC ATCCGGAAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCACCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(427): Show GCGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18994.hp2 HG04184.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0184 a0001c0002t0001g0233 a0001c0001t0001g0184 a0001c0002t0001g0233	2	300	0.0067	434	c.134 others(453): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCACCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(427): Show GCGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTCC CTTCCGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	300	0.0033	434	c.134 others(453): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCC ATCCGGAAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCACCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(427): Show GCGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04199.hp1 HG03942.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0077 a0001c0002t0001g0210 a0001c0001t0003g0077 a0001c0002t0001g0210	2	300	0.0067	434	c.134 others(453): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCACCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(427): Show GCGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTCC CTTCCGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	300	0.0033	434	c.134 others(453): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCC ATCCGGAAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCACCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(427): Show GCGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	300	0.0033	434	c.134 others(453): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCACCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(427): Show GCGGGGTGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCAGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTCC CTTCCGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0225 a0001c0001t0005g0225	1	300	0.0033	434	c.134 others(453): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCC ATCCGGAAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCTGCCCCATCTGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCACCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(427): Show GCGGGGTGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG03225.hp2 HG01884.hp1 HG02486.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105	3	300	0.0100	434	c.134 others(453): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCACCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(427): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATTCATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATTCA TATATATTCATATATATATTCATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATATTCATATATATTCATATATATTCATA TATATATTCATATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19089.hp1 NA19068.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0008 a0001c0001t0001g0009	2	191	0.0105	434	c.343 others(451): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATGAATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATGAATATATATATGAATATATATATGAATATATATGAATAT ATATATGAATATATATATGAATCTATATATGAATATATATGAATCTATAT ATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(427): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATATTCATATATATTCATATATATTCATA TATATATTCATATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18944.hp1 NA18948.hp1 others(5): Show HG02273.hp2 NA18944.hp1 NA18948.hp1 NA18953.hp1 NA18971.hp1 NA18983.hp1 NA18985.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 others(5): Show a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0185	8	191	0.0419	434	c.343 others(451): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATATGAAT CTATATATGAATATATATGAATCTATATATGAATATATATGAATCTATAT ATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(427): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01952.hp2 HG01975.hp2 others(2): Show HG01074.hp1 HG01952.hp2 HG01975.hp2 HG02273.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0007 a0001c0001t0004g0007 a0001c0001t0003g0007 a0001c0001t0004g0007	5	390	0.0128	434	c.112 others(451): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATA TATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(427): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03017.hp1 NA18944.hp2 others(1): Show HG01243.hp2 HG03017.hp1 NA18944.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0114 a0001c0001t0002g0030 a0001c0001t0001g0114 a0001c0001t0002g0030	4	390	0.0103	434	c.112 others(451): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATA TATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	AATAGGCA others(427): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0189 a0001c0001t0004g0189	1	390	0.0026	434	c.112 others(451): Show c.1122-167_1122-166insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(427): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0242 a0001c0001t0004g0242	1	390	0.0026	434	c.112 others(451): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAT ATATAT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(427): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	390	0.0026	434	c.112 others(451): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT ATATAT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(427): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18943.hp1 NA19086.hp2 HG01361.hp1 NA18943.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	3	390	0.0077	434	c.112 others(451): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT ATATAT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(427): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	390	0.0026	434	c.112 others(451): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAT ATATAT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
MKRN1_chr7_140448033_140484505	140474005	A A	AAAAAAAA others(427): Show AAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	434	0.0023	434	c.186 others(451): Show c.186-1995_186-1994insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TTTTTT	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/7			chr7	TogoVar

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Search Results (Total: 10000 hits)