Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LRRC23_chr12_6899822_6919229	6909156	T T	TAATTATA others(400): Show TAATTATATATATTATATATTATATATAATATATAATATATAATATATAA TATATAATATATATTTATTAATAATATATATAATATATATATTTATTTAT ATATATATTATTATATATATAAATATATATATTTATTAATATATATATAA ATATATATATATTTATTAATAATATATATAATATATATATATAATATATA ATATATAATATATAATATATATTTATATATAATATATAATATATAATATA TAATTATATATTATATATAATTATATATTATATATAATTATATAATATAT AATATATATATTATTATATATATAATAATATATATATAATATATAATTAT ACATAATATATAATATATATTATAATATATAATATATATTATATATTAAT ATATAATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	316	0.0032	407	c.622 others(422): Show c.622-734_622-733insAATTATATATATTATATATTATATATAATA TATAATATATAATATATAATATATAATATATATTTATTAATAATATATAT AATATATATATTTATTTATATATATATTATTATATATATAAATATATATA TTTATTAATATATATATAAATATATATATATTTATTAATAATATATATAA TATATATATATAATATATAATATATAATATATAATATATATTTATATATA ATATATAATATATAATATATAATTATATATTATATATAATTATATATTAT ATATAATTATATAATATATAATATATATATTATTATATATATAATAATAT ATATATAATATATAATTATACATAATATATAATATATATTATAATATATA ATATATATTATATATTAATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LUC7L_chr16_183990_234449	186459	G G	GGAGGAAC others(400): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAAC AGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	350	0.0029	407	c.27 others(418): Show c.2738_*2739insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2530		chr16	TogoVar
MAEA_chr4_1284891_1345137	1316995	C C	CCAGGCCC others(400): Show CCAGGCCCACCCTGGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCC GGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACACTC CAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCC AGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAG CCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCA GACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAG GCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCC CCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGA CTCACCCG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	388	0.0026	407	c.456 others(424): Show c.456+1406_456+1407insTGGCCCCCACACTCCAGACTCACCCCCA GGCCCACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGC CCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCC ACACTCCAGACTCACCCGCAGGCCCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
METTL25B_chr1_156723469_156741960	156735542	A A	AAAAAAAA others(400): Show AAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGC TACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAG CTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCT TTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGA GATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAAT ACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTA GTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGAC GCCATCTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0216	1	390	0.0026	407	c.112 others(424): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735544	A A	AAAAAAAA others(400): Show AAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGC TACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAG CTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCT TTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGA GATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTA GTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGAC GCCATCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02922.hp1 others(2): Show HG02486.hp2 HG02615.hp1 HG02922.hp1 HG02970.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0111 a0001c0001t0001g0009 a0001c0001t0001g0111	5	390	0.0128	407	c.112 others(424): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCCTCC others(400): Show GCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCCTCCCCTCCCCT CCCCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTC CCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTC CCCCCTCTCCTCCCCCTCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CTCCCCAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0097 a0001c0001t0006g0097	1	278	0.0036	407	c.115 others(424): Show c.1157+141_1157+142insCTCCCCTCCCCTCCCCCTCCCCTCCCTT CCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCT CCTCCCCTCCCCTCCCCTCCCCATTCCCCTTCCCTCCCCTCCACCCTCCC CTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCC CCTCCCTTCCCCTCCCTCCCCCCTCTCCTCCCCCTCCTTCCCCTCCGCTT GCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCC CCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTC CCCTCCCCCTCCCCTCCCCTCCCCACCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(400): Show GCCCTCCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTC CCCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCC CTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCC CCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CTCCCCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	278	0.0036	407	c.115 others(424): Show c.1157+146_1157+147insCTCCCCTCCCCCTCCCCTCCCTTCCCCT CCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCC CTCCCCTCCCCTCCCCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCC TCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCC TTCCCCTCCCTCCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCC TTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACC TCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTC CCCCTCCCCTCCCCTCCCCACCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(400): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTC CCCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCC CTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCC CCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CTCCCCAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0160 a0002c0012t0001g0160	1	278	0.0036	407	c.115 others(424): Show c.1157+156_1157+157insCCTCCCCTCCCTTCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCT CCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCC CTCCCCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCC TCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCC TCCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCC TCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCC CCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCT CCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(400): Show GCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTC CCCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCC CTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCC CCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CTCCCCAC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0150 a0002c0029t0001g0150	1	278	0.0036	407	c.115 others(424): Show c.1157+156_1157+157insCTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCT CCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCC CTCCCCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCC TCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCC TCCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCC TCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCC CCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCT CCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(400): Show GCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCTCCCT CCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTC CCCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCC CTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCC CCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CTCCCCAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0249 a0001c0001t0006g0249	1	278	0.0036	407	c.115 others(424): Show c.1157+156_1157+157insCTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCTC CCTCCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCC CTCCCCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCC TCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCC TCCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCC TCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCC CCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCT CCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925244	T T	TCCCCTCC others(400): Show TCCCCTCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCC CCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCATTCCCC TTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCC CCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCTCTCCT CCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCT CCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTC TCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCC CTCCCCTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0135 a0001c0001t0006g0135	1	278	0.0036	407	c.115 others(424): Show c.1157+156_1157+157insCTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCTC CCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCC TCCCCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCT CCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCT CCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCT CTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCC CTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTC CCCTCCCCACCCCTCCCCTCCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCG others(400): Show GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCA GGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACC CTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCC TTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGC GCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	442	0.0023	407	c.301 others(422): Show c.301-799_301-798insGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCAGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCT GACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCC CCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGA ATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAG GCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRPL24_chr1_156732303_156746088	156735542	A A	AAAAAAAA others(400): Show AAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGC TACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAG CTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCT TTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGA GATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAAT ACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTA GTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGAC GCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	364	0.0028	407	c.18 others(418): Show c.1855_*1856insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1760		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735544	A A	AAAAAAAA others(400): Show AAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGC TACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAG CTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCT TTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGA GATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTA GTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGAC GCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02922.hp2 others(1): Show HG02486.hp1 HG02615.hp1 HG02922.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	4	364	0.0110	407	c.18 others(418): Show c.1853_*1854insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1758		chr1	TogoVar
MSLN_chr16_755734_773862	767748	G G	GGGGGCGC others(400): Show GGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGG AGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGCGCGTGG AGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGG GGGGCACGTGGAGGGGGGTGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGT GGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCG CGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGTGTGTGGGGGGGGGC GTGGAGGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0009 a0005c0005t0001g0009	2	388	0.0052	407	c.159 others(424): Show c.1596+292_1596+293insGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGA GGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGG CGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTG TGTGGGGGGGGCACGTGGAGGGGGGTGTGTGGGGGGGTGCGTGGAGGAGG GGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAG GGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGTGTGTGGG GGGGGGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
NCAPG2_chr7_158626169_158709804	158667983	T T	TCCTTACC others(400): Show TCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTCC CTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTA CTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCTCCTTACCCACAACTGGGTCCCTCCGCCCGCCTTACCC ACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCT CCTTACCCACAACTGGGTCCCTCCGCCCGCCTTACCCACAACTGGGTCCC TCCGCCCG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	378	0.0027	407	c.148 others(426): Show c.1480-3234_1480-3233insCGGGCGGAGGGACCCAGTTGTGGGTA AGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGG GACCCAGTTGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC CTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTAGTGGGTAA CGGGGGGCGGAGGGACCCAGGGTCGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(400): Show TCCTTACCCACTACTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTC CCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACT GGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCC TCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCT CCGCCCCC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0372 a0001c0001t0001g0372	1	378	0.0027	407	c.147 others(426): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCC TAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTAGTGGGTAAC GGGGGGCGGAGGGACCCAGTAGTGGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668342	A A	AACTGGGT others(400): Show AACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCC CTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCGCCTTA CCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGC CCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCC CTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCCCCTTACCCACTA CTGGGTCCCTCTGCCCTCCCTTACCTACCTTGTGTCCCTAGGCCCTCCCT TACCCACT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	378	0.0027	407	c.147 others(426): Show c.1479+3171_1479+3172insAGTGGGTAAGGGAGGGCCTAGGGACA CAAGGTAGGTAAGGGAGGGCAGAGGGACCCAGTAGTGGGTAAGGGGGGGC GGAGGGACCCAGGGTCGGTAAGGAAGGCGGAGGGACCCAGTAGTGGGTAA GAGGGTGGAGGGCCAGAGGGTAGGTAAGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGAC CCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGG CGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGAGGGCGGAGGGACCCAGT	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCR1_chr19_54901148_54918073	54916317	C C	CTTTTTTT others(400): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTC CTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCTGCAA CCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAAGTGCGTGCCACCACGCCCGGCTAATTTTTGTATTTTTA GTAGAGATGGGGTTTCTCCATGTTGGTCTCAAACTCCTGGTCTCAGGTGA TCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACC ACACCCAGCTACTTGTGCTTTTTGACCAACATCTTCCTCTCCTACCACCC CCAGCCCCTGATAACCTCCACCTACTCTCACTTCTAGGAGATCAACTGTT CTATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18998.hp2 NA18971.hp1 NA18998.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0007 a0003c0004t0006g0041 a0003c0004t0006g0007 a0003c0004t0006g0041	2	457	0.0044	407	c.34 others(418): Show c.3446_*3447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGAAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCG ATCTTGACTCTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAAGTGCGTGCCACCACGCCCGGCTA ATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCAAACT CCTGGTCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGACGTGAGCCACCACACCCAGCTACTTGTGCTTTTTGACCAACATCTT CCTCTCCTACCACCCCCAGCCCCTGATAACCTCCACCTACTCTCACTTCT AGGAGATCAACTGTTCTATTTTT	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		3245		chr19	TogoVar
NPRL3_chr16_80386_143673	82247	G G	GCTCCCCG others(400): Show GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCA GGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACC CTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCC TTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGC GCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	350	0.0029	407	c.44 others(418): Show c.4457_*4458insTATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGG GAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCCTTCCCGGAGGTA GGGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCCTTC CCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGA GGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCA TTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCC GGGGGAGCATTCAGGAGGCCTTCCTGGAGGTAGGGTGGTGGGAAGAAGGG GTCAGCGCCGGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGG GAAGAAGGGGTCAGCGCGGGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3138		chr16	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(400): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCACCCTCCCCTT CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTC CCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTTCCCC TTCCCCTCCCCTCCCCCTTCCCCTCCCCTCTCCCCTTCCCCTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCC TCCCCTCC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0167 a0001c0001t0004g0167	1	326	0.0031	407	c.433 others(424): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGG GAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAG GGGGAGGGGAGGGGAAGGGGGAGGGGAGGGAAGGGGAGGGTGGGAGGGGA GGGGAGGGGAGAGGAGAGGAGAGGAGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(400): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCT TCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCCTCCC CCTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCC TCCCCTCC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	326	0.0031	407	c.433 others(424): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGGAGGGGAAGGGG AGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGG GGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	892003	G G	GCAACAGG others(400): Show GCAACAGGGAACCTAAACTAACCCCATCATGCACAACCCAACAGGGAACC TAAACTAACCCCACCATGCACAACCCAACAGGGAACCTAAACTAACCCCA TCATGCACAACCCAACAGGGAACCTAAACTAACCCCACCATGCACAACCC AACAGGGAACCTAAACTAACCCCACCATGCACAACCCAACAGGGAACCTA AACTAACCCCATCATGCACAACCCAACAGGGAACCTAAACTAACCCCACC ATGCACAACCCAACAGGGAACCTAAACTAACCCCACCATGCACAACCCAA CAGGGAACCTAAACTAACCCCATCATGCACAACCCAACAGGGAACCTAAA CTAACCCCACCATGCACAACCCAACAGGGAACCTAAACTAACCCCACCAT GCACAACC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0073 a0001c0001t0007g0073	1	242	0.0041	407	c.361 others(426): Show c.361-65926_361-65925insGGTTGTGCATGGTGGGGTTAGTTTAG GTTCCCTGTTGGGTTGTGCATGGTGGGGTTAGTTTAGGTTCCCTGTTGGG TTGTGCATGATGGGGTTAGTTTAGGTTCCCTGTTGGGTTGTGCATGGTGG GGTTAGTTTAGGTTCCCTGTTGGGTTGTGCATGGTGGGGTTAGTTTAGGT TCCCTGTTGGGTTGTGCATGATGGGGTTAGTTTAGGTTCCCTGTTGGGTT GTGCATGGTGGGGTTAGTTTAGGTTCCCTGTTGGGTTGTGCATGGTGGGG TTAGTTTAGGTTCCCTGTTGGGTTGTGCATGATGGGGTTAGTTTAGGTTC CCTGTTGGGTTGTGCATGGTGGGGTTAGTTTAGGTTCCCTGTTGGGTTGT GCATGATGGGGTTAGTTTAGGTTCCCTGTTG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(400): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0151 a0001c0001t0017g0151	1	186	0.0054	407	c.242 others(424): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(400): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00741.hp1 others(24): Show HG00140.hp1 HG00639.hp2 HG00741.hp1 HG01069.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG02055.hp1 HG02280.hp1 HG02451.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp2 NA19077.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0003t0014	a0001c0001t0001g0092 a0001c0001t0002g0001 a0001c0001t0002g0082 others(23): Show a0001c0001t0001g0092 a0001c0001t0002g0001 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0118 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0005g0105 a0001c0001t0008g0181 a0001c0003t0014g0107 a0001c0003t0014g0108	27	186	0.1452	407	c.242 others(424): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(400): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGG GGCTGACC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0159 a0001c0001t0019g0159	1	186	0.0054	407	c.242 others(424): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(400): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	186	0.0054	407	c.242 others(424): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCG others(400): Show ACCCCCCGACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	186	0.0054	407	c.242 others(424): Show c.242-2531_242-2530insGACCTCCCTCCCGGACGGGGAAGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCCC	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OTOF_chr2_26452203_26483124	26476536	C C	CCCTTCCC others(400): Show CCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTC CTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCT TCCCCACCCCTTCCCCCACCCCCTTCCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCCACCCCTTCC CCCACGTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCC ACCTCCTTCCCCAGCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCAC CTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCACCCCTTCCCCCACCTC CTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTT CCCCCACG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	330	0.0030	407	c.436 others(422): Show c.436-220_436-219insCGTGGGGGAAGGGGTGGGGAAGGAGGTGGG GGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGA AGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGG AGGTGGGGGAAGGGCTGGGGAAGGAGGTGGGGAAGGGGTGGGGAAGGAGG TGGGGGAAGGGGTGGGGAAGGACGTGGGGGAAGGGGTGGGGGAAGGAGGT GGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGGAAGGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGA AGGGGTGGGGAAGGAGGTGGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476536	C C	CCCTTCCC others(400): Show CCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCACCTCC TTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTT CCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTC CCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCC ACGTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCAC CTCCTTCCCCAGCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCCACC TCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTC CTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTT CCCCCACG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0001 a0004c0024t0001	a0004c0024t0001g0062 a0004c0024t0001g0062	1	284	0.0035	407	c.267 others(424): Show c.2677-220_2677-219insCGTGGGGGAAGGGGTGGGGAAGGAGGTG GGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGCTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGGAAGGACGTGGGGGAAGGGGTGGGGAAGG AGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGAAGGAGGTGGGGGAAGGGG TGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGAGGTGGGGGAAGGGGT GGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGAAGGGGTGGG GAAGGGGTGGGGAAGGAGGTGGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(400): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGT GTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAG TCCACTGACGTAGCGCCACATGGTGGTGTCAGCATCGCCGTGTCAGTCCA CTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTG ACGTAGCG	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18942.hp1 HG00544.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0143 a0001c0001t0001g0158	2	292	0.0069	407	c.-16 others(426): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTA GCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCA CACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGG TGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCCACATGGTGGT GTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTC AGCATCGCCGTGTCAGTCCACTGACGTAGCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909791	C C	CCCCCCCC others(400): Show CCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAG ATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACT GCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCC CCCACCCACTGCCCAGATACGGACCCCCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCCACCCAC TGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACAGACCCCGGC CCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACAG ACCCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCA GATACGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0285 a0001c0002t0009g0285	1	292	0.0034	407	c.471 others(422): Show c.471+313_471+314insACCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCG GCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCCACCCA CTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCC CCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATA CAGACCCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTG CCCAGATACAGACCCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(400): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAC GGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGG GGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGA GGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGA GGAGGAGG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	115	0.0087	407	c.305 others(428): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGA GGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGG AGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGT GGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGG AGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PDE9A_chr21_42648621_42780509	42690032	C C	CAGACGCG others(400): Show CAGACGCGGATGAGGATACAGATGGAGAAGATGGAGGTAGACGCGGGTGA GGATACAGGTGGAGAAGATGGAGGTAGACGCGGGTGAGGATACAGGTGGA GAAGATGGAGGTAGACGCGGGTGAGGATACAGGTGGAGAAGATGGAGGTA GACGCGGATGAGGATACAGATGGAGAAGATGGAGGTAGACGCGGGTGAGG ATACAGGTGGAGAAGATGGAGGTAGACGCGGGTGAGGATACAGGTGGAGA AGATGGAGGTAGACGCGGATGAGGATACAGGTGGAGAAGATGGAGGTAGA CGCGGGTGAGGATACAGGTGGAGAAGATGGAGGTAGACGCGGGTGAGGAT ACAGGTGGAGAAGATGGAGGTAGACGCGGGTGAGGATACAGGTGGAGAAG ATGGAGGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	324	0.0031	407	c.218 others(424): Show c.218+2157_218+2158insGTGAGGATACAGGTGGAGAAGATGGAGG TAGACGCGGATGAGGATACAGATGGAGAAGATGGAGGTAGACGCGGGTGA GGATACAGGTGGAGAAGATGGAGGTAGACGCGGGTGAGGATACAGGTGGA GAAGATGGAGGTAGACGCGGATGAGGATACAGGTGGAGAAGATGGAGGTA GACGCGGGTGAGGATACAGGTGGAGAAGATGGAGGTAGACGCGGGTGAGG ATACAGGTGGAGAAGATGGAGGTAGACGCGGGTGAGGATACAGGTGGAGA AGATGGAGGTAGACGCGGATGAGGATACAGATGGAGAAGATGGAGGTAGA CGCGGGTGAGGATACAGGTGGAGAAGATGGAGGTAGACGCGGGTGAGGAT ACAGGTGGAGAAGATGGAGGTAGACGCGG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31906170	T T	TGCCACCA others(400): Show TGCCACCACGCCTGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGATG GGGTTTCACCATGTTAGCCAGAATGGGCTCAATCTCCATTGATTACAGGG ATTACAGGCATAAGCCACCACGCCCAGCCTTATTTTATTTTTTTGAGATG GAGTCTCACTCTGTCACCCAGGCTGGAGTGGAGTGGTGTGTTCTTGGCTC ACTGCAACTTCTGCCTCCCAGGTTCAAGCTATTCTCCAGCCTCAGACTCC CAAGTAGCCGGGATTACAGGTACATGCCACCACGCCCAGTTAATTTTTGT ATTTTTAGTAGAGATGGGGTTTTACTATGTTGGCCAAGTTGGTCCAAACT CCTGAACTCAAGTGACAACCCGCCTTGGGCTCCCAAAGTGCTGGGATTAC AGGCATGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(74): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00597.hp1 HG00597.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02080.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG03041.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18944.hp1 NA18948.hp1 NA18953.hp1 NA18962.hp2 NA18968.hp2 NA18973.hp2 NA18986.hp1 NA18986.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp1 NA19085.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0012 a0013 a0016 a0021 a0022 a0025 a0026 a0027 a0035	a0001c0001 a0001c0005 a0001c0010 others(24): Show a0001c0001 a0001c0005 a0001c0010 a0001c0017 a0002c0002 a0002c0003 a0002c0011 a0002c0012 a0002c0040 a0003c0004 a0003c0008 a0003c0038 a0004c0006 a0004c0029 a0004c0041 a0005c0009 a0007c0013 a0008c0014 a0012c0064 a0013c0019 a0016c0032 a0021c0031 a0022c0057 a0025c0037 a0026c0052 a0027c0025 a0035c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0034 a0001c0001t0044 a0001c0005t0001 a0001c0005t0002 a0001c0005t0024 a0001c0010t0015 a0001c0017t0023 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0025 a0002c0003t0002 a0002c0003t0005 a0002c0003t0011 a0002c0003t0020 a0002c0011t0001 a0002c0011t0002 a0002c0012t0002 a0002c0040t0032 a0003c0004t0001 a0003c0004t0004 a0003c0004t0005 a0003c0004t0011 a0003c0004t0026 a0003c0004t0027 a0003c0004t0045 a0003c0008t0012 a0003c0038t0001 a0004c0006t0007 a0004c0006t0010 a0004c0029t0049 a0004c0041t0031 a0005c0009t0013 a0007c0013t0001 a0008c0014t0004 a0012c0064t0001 a0013c0019t0007 a0016c0032t0001 a0021c0031t0001 a0022c0057t0001 a0025c0037t0001 a0026c0052t0003 a0027c0025t0001 a0035c0043t0002	a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0045 others(74): Show a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0165 a0001c0001t0002g0056 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0003g0032 a0001c0001t0005g0010 a0001c0001t0006g0041 a0001c0001t0006g0070 a0001c0001t0008g0181 a0001c0001t0010g0040 a0001c0001t0018g0128 a0001c0001t0034g0139 a0001c0001t0044g0006 a0001c0005t0001g0091 a0001c0005t0002g0100 a0001c0005t0024g0119 a0001c0010t0015g0196 a0001c0017t0023g0071 a0002c0002t0001g0076 a0002c0002t0001g0084 a0002c0002t0001g0111 a0002c0002t0001g0120 a0002c0002t0001g0143 a0002c0002t0002g0106 a0002c0002t0003g0021 a0002c0002t0005g0007 a0002c0002t0025g0069 a0002c0003t0002g0042 a0002c0003t0002g0049 a0002c0003t0002g0132 a0002c0003t0005g0017 a0002c0003t0011g0067 a0002c0003t0020g0033 a0002c0011t0001g0080 a0002c0011t0002g0085 a0002c0012t0002g0078 a0002c0040t0032g0105 a0003c0004t0001g0099 a0003c0004t0004g0122 a0003c0004t0005g0031 a0003c0004t0011g0124 a0003c0004t0026g0065 a0003c0004t0027g0101 a0003c0004t0045g0027 a0003c0008t0012g0030 a0003c0038t0001g0055 a0004c0006t0007g0179 a0004c0006t0010g0173 a0004c0006t0010g0206 a0004c0029t0049g0001 a0004c0041t0031g0114 a0005c0009t0013g0203 a0007c0013t0001g0200 a0008c0014t0004g0178 a0012c0064t0001g0191 a0013c0019t0007g0205 a0016c0032t0001g0048 a0021c0031t0001g0147 a0022c0057t0001g0137 a0025c0037t0001g0127 a0026c0052t0003g0003 a0027c0025t0001g0125 a0035c0043t0002g0089	77	216	0.3565	407	c.477 others(426): Show c.477-76977_477-76976insGCCTGGCTAATTTTTTTTTTTTTGTA TTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGGCTCAATCT CCATTGATTACAGGGATTACAGGCATAAGCCACCACGCCCAGCCTTATTT TATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGGAGTG GTGTGTTCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGCTATTCT CCAGCCTCAGACTCCCAAGTAGCCGGGATTACAGGTACATGCCACCACGC CCAGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACTATGTTGGCC AAGTTGGTCCAAACTCCTGAACTCAAGTGACAACCCGCCTTGGGCTCCCA AAGTGCTGGGATTACAGGCATGAGCCACCAC	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PERM1_chr1_970198_987093	977224	C C	CAACCCCG others(400): Show CAACCCCGGGAACCGCCTCCCACTCCCCGCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACC GCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0088 a0006c0008t0001g0088	1	408	0.0025	407	c.215 others(424): Show c.2150-601_2150-600insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGG GGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GCGGGGAGTGGGAGGCGGTTCCCGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977572	C C	CCAACCCC others(400): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCAC CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	408	0.0025	407	c.215 others(424): Show c.2150-949_2150-948insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTG GGGGGAGTGGGAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIGQ_chr16_564968_589109	571084	T T	TGTCTGGC others(400): Show TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTG GCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGG CTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGG GGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCT AGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCC TGGCGCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0050 a0002c0001t0001g0050	1	408	0.0025	407	c.-10 others(422): Show c.-10+990_-10+991insCTGGCTAGCCTGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTC TGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTG GCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTA TGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTG TGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCG TGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTGGCTAGCCTGGCGCCCGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(400): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGAGGGAGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCGGGGGCGGGAGGAGGGGAGGGAGGGGGAGGGGAGGAGGGG GGGAGGGGAGGGGAGGAAGGGGGGGACGGCAGCGGCGGGCAGGGAGCAGC GGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGAGGGGAGGAGGGAG GGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGGGAG GGGGAGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGG AGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0057 a0001c0004t0001g0057	1	354	0.0028	407	c.-27 others(416): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCCCT CCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCGCCCCTAACCC TCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCTGCCCGCCGCTGCCGTCCC CCCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTCCCCCTCCCTCCCCT CCTCCCGCCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCTCC CTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCC TCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCT GCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(400): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGG GAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGG GGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCG GCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGC GGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGG GGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGG GGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	354	0.0028	407	c.-27 others(416): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCT CCCCCTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCT CCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCTCCTCCCCGCCC CGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCC CCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCC GCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCC CTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCC TCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCT GCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PPP2R2D_chr10_131896008_131964834	131939071	T T	TACGGCAG others(400): Show TACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAATACGGCAGGCTGC ATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCT GCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACA CGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCAT TCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGC TCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACG GCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTC GGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTC CAGAAAAC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0197 a0002c0002t0001g0197	1	394	0.0025	407	c.199 others(422): Show c.199-944_199-943insGGCAGACCTGCTCCAGAAAATACGGCAGGC TGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGA CCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAA ACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTG CATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACC TGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAAC ACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCA TTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTG CTCCAGAAAACACGGCAGGCTGCATTC	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2106486	A A	ATGCGTGT others(400): Show ATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGA GGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTG GTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTGACTCTTCAGCAG GCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACT CTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCC AGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGT CACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCC ACACGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCG AGGACCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	286	0.0035	407	c.335 others(426): Show c.335-28776_335-28775insTGCGTGTCACCAGGCCAGGTAACTCT CAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAG GTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCAC CAGGCCAGGTGACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCAC ACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGG ACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGG TGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGC CCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCT TCAGCAAGCCCCTCTGGTGGGCGAGGACCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTTCCTCC others(400): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC CCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTC CCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTC TCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	227	0.0044	407	c.23 others(418): Show c.2397_*2398insTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTC TCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCC TCTCTCCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(400): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGATAATGGTGATGGTGATGATGGTGATGTGATAATGGTGAT GGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGG TGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTG GTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGG TGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTG ATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGT GGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	374	0.0027	407	c.-46 others(418): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGATGGTGA TGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGG TGATGATGGTGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGATAATG GTGATGGTGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGA TGATGGTGATGGTGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTG GTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGT AGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RAB2A_chr8_60511987_60628644	60548537	G G	GGACGGGG others(400): Show GGACGGGGCGGCTGGCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGC GGCCGGGCAGAGGCGCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCG GGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC TTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCACACCTCCCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGCGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCT CCCTCCCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp2 HG02922.hp1 HG02055.hp2 HG02809.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332	3	358	0.0084	407	c.47- others(424): Show c.47-10291_47-10290insTGGCTCCTCACTTCCCAGCAGGGGCGGC CGGGCAGAGGCGCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGT GGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACTTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCACACCTCCCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGCGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCC TCCCAGACGGGGCGGCTGGCCGGGCAGAG	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RASA3_chr13_113972783_114137623	114044256	C C	CCCCCGCC others(400): Show CCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTG AGCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCCCCGCCCCGCCTCACT CGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTC ACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCCCGC CTCACTCGCTGAGCCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCCCCG CCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCC CGCCCCGCCTCACTCGCTGAGCTCCCCCCGCCGCCTCACTCGCTGAGCTC CCCCCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGA GCCCCCCG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	67	0.0149	407	c.278 others(424): Show c.278-3163_278-3162insCGGGGGGCTCAGCGAGTGAGGCGGGGCG GGGGGGCTCAGCGAGTGAGGCGGGGGGGGGGAGCTCAGCGAGTGAGGCGG CGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGCTCAGCGAGTG AGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGGCTCAGCGAG TGAGGCGGGGGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGGGCTCAGCG AGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCA GCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGG GGGCTCAGCGAGTGAGGCGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGG GGGGGCTCAGCGAGTGAGGCGGGGCGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(400): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGT CACCCCCG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	154	0.0065	407	c.-32 others(428): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT CGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGA GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(400): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGG GAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGG GGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGA GGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGG AGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGG GGAGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	318	0.0031	407	c.36 others(418): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGG AGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGG GGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGG AGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAG GAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGG GGAGGGGGGAGGAGGGGAGGGCG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RGS12_chr4_3288021_3444913	3341470	C C	CGGGGGGA others(400): Show CGGGGGGAGGGAGGGTGGAGAGATGGGGGGTGTGGGCGGAGGGGAGGGTG GAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGG GAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTT GGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGG AGGGTGGAGAGATGGGGGTGTGGGGAGGGGGACAAGGGTGGAGAGATGGT GTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTG GAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGC GGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGA GATGGTGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0223 a0001c0041t0001g0223	1	312	0.0032	407	c.188 others(426): Show c.1882-1439_1882-1438insGTGTGGGCGGAGGGGAGGGTGGAGAG ATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGG AGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGG TGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGT GGAGAGATGGGGGTGTGGGGAGGGGGACAAGGGTGGAGAGATGGTGTGGG GGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAG TTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGG GGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGG TGTGGGGGGAGGGAGGGTGGAGAGATGGGGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RPH3AL_chr17_207389_357807	234298	T T	TCCCCGAG others(400): Show TCCCCGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGG AGCGGCTACTTACCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTTCC CCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAACTTT CCCCCAAGCGGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGG AGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTCC CCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTCCCCTGACCAACTTC CCTGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGGAG CGGCTACTTCCCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCC TGACCAAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0022 a0001c0006t0004g0022	1	133	0.0075	407	c.613 others(426): Show c.613+12812_613+12813insGTTGGTCAGGGTAAGTAGCCGCTCCC TGCTCAGGGAAGTTGGTCAGGGGAAGTAGCCGCTCCCTGCTCAGGGAAGT TGGTCAGGGTAAGTAGCCGCTCCCTGCTCAGGGAAGTTGGTCAGGGGAAG TAGCCGCTCCCTGCTCAGGGAAGTTGGTCAGGGGAAGTAGCCGCTCCCTG CTCAGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCAGGGAAGTTG GTCAGGGTAAGTAGCCGCTCCCCGCTTGGGGGAAAGTTGGTCAGGGTAAG TAGCCGCTCCCTGCTCAGGGAAGTTGGTCAGGGGAAGTAGCCGCTCCCTG CTCGGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCAGGGAAGTTG GTCAGGGTAAGTAGCCGCTCCCTGCTCGGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar

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