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
IQSEC3_chr12_61767_183455	163272	C C	CCCTCCCT others(630): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCT CCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03098.hp2 NA20129.hp2 HG02615.hp2 HG03098.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0013 a0003c0005t0023 a0003c0005t0013 a0003c0005t0023	a0003c0005t0013g0036 a0003c0005t0023g0068 a0003c0005t0023g0245 a0003c0005t0013g0036 a0003c0005t0023g0068 a0003c0005t0023g0245	3	282	0.0106	637	c.258 others(654): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCC TCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGA ACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCC CCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCG GAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTC CCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACC CCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCAC AGAACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KIF1A_chr2_240708767_240825219	240786775	A A	AGGACCCC others(630): Show AGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGTGAG AGGGTGGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCT GCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGTG AGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGGGGCCAC CATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGACCCCTGAG GGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCACCA TCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTG AGAGGGTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGC CATCAGGACCCCTGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAG TGAGAGGGTAGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCA TCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTG AGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCAGT ATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0200 a0001c0003t0003g0200	1	330	0.0030	637	c.430 others(652): Show c.430-263_430-262insAGCAGGCAGCCCCCACCCCCTCACTCAGGG GTCCTGATACTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGGCGGCCC CCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGG GGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTA CCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGG TCCTGATGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCC TACCCTCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGG GGTCCTGATGGTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGCTGGCT CCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGGG TCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCCC TACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGG GGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCC CCCACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCA GGGGTCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
LHPP_chr10_124456823_124619141	124507256	G G	GGGGGGTA others(630): Show GGGGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGTTGG GGGGGTAGACAGGATTTCAGTTGGGGGGGTAGACAGGATTTCAGTTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGGAGTATTTCAGGTGGGGG GGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTA GGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGGTAGGGA GTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	260	0.0039	637	c.624 others(654): Show c.624+9133_624+9134insTAGGCAGGATTTCAGGTCGGGGGGGTAG ACAGGATTTCAGTTGGGGGGGTAGACAGGATTTCAGTTGGGGGGGTAGAC AGGATTTCAGTTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGGA GTATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTC AGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCA GGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAG GTGGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAG GTGTGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LOC114841035_chr11_64236095_64249132	64237092	A A	AGGGAGAG others(630): Show AGGGAGAGGCAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	637	c.-41 others(648): Show c.-4188_-4187insGGGAGAGGCAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGG	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		4002		chr11	TogoVar
LUC7L_chr16_183990_234449	186510	G G	GGAGGAAC others(630): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	350	0.0029	637	c.26 others(648): Show c.2687_*2688insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2479		chr16	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(630): Show GCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTCC TCCCCTCCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCCC TCCCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTC CCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCC TCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTC CCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCC CCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGC CCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTC CCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGC TTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCT CCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTC TCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0011 a0002c0041t0011	a0002c0041t0011g0063 a0002c0041t0011g0063	1	278	0.0036	637	c.115 others(654): Show c.1157+156_1157+157insCCCTCCCCTCCCTCCCCCTCCCCTCCCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCC TCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTC CCCTCCCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCC CTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCC GCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCC TTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCT CCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCC CGCCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCC CTCCCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTC TGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTC CCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTC CTCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCCCTCCCCT CCCCTCCCC	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(630): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTCCT CCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCCCTC CCCCCCTCACCCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTC CCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCC TCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTC CCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCC CCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGC CCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTC CCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGC TTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCT CCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTC TCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0011 a0001c0049t0011	a0001c0049t0011g0068 a0001c0049t0011g0068	1	278	0.0036	637	c.115 others(654): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCT CCTCCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCC CTCCCCCCCTCACCCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCC CTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCC GCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCC TTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCT CCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCC CGCCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCC CTCCCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTC TGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTC CCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTC CTCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCCCTCCCCT CCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(630): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0201	1	356	0.0028	637	c.91+ others(650): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTG GGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOL4L_chr20_32438059_32590333	32563163	G G	GGGTGGAG others(630): Show GGGTGGAGTGCAGGGAGGGTGGAGGGAGGGAGAGTGGGGAGGGAGGGTAG AAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGGCAGGGAGGGT GGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGAGGGTGGGGAG GGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGATGGAGGGAGGGAGAG TGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGAGGGAGGGA GAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGGGAG GGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGGAGGG TGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAGTGG GGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTTGGA GGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGGGGA GGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGGGAG GGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAGGTGGAGGGG AGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGCAGGGAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp2 HG01891.hp1 others(7): Show HG00140.hp2 HG01109.hp2 HG01891.hp1 HG02257.hp1 HG02280.hp1 HG02572.hp2 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 a0001c0002t0020 a0001c0002t0021 a0001c0007t0005	a0001c0001t0001g0035 a0001c0001t0001g0179 a0001c0001t0001g0182 others(7): Show a0001c0001t0001g0035 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0002g0114 a0001c0001t0002g0156 a0001c0001t0007g0152 a0001c0001t0025g0181 a0001c0002t0020g0124 a0001c0002t0021g0163 a0001c0007t0005g0194	10	196	0.0510	637	c.321 others(656): Show c.321+21406_321+21407insATCCCTGCCCTCCACCCTCCCTCCCC TCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCACCCTCC TTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCCACTCTCCTTCC CTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTCCCTGCCCTCCA CCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCCCCACTCCCTGC CCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCTCCACCCT CCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTCCTCCCTCCTCC CTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTCCCTCCCCTCCA CCCTCCCCACTCTCCCTCCCTCCCCCCCTGCCTTCCTCCCTCCCTCCCCT CCACCTTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCTCCCCACTCTC CCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCCTCCCCACC CTCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCCCCTCCAC CCTCCTTACCTTCTACCCTCCCTCCCCACTCTCCCTCCCTCCACCCTCCC TGCACTCCACC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(630): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01175.hp1 others(1): Show HG00099.hp2 HG00639.hp1 HG01175.hp1 HG03688.hp2	a0002 a0019 a0002 a0019	a0002c0002 a0019c0021 a0002c0002 a0019c0021	a0002c0002t0001 a0019c0021t0001 a0002c0002t0001 a0019c0021t0001	a0002c0002t0001g0049 a0002c0002t0001g0279 a0019c0021t0001g0280 a0002c0002t0001g0049 a0002c0002t0001g0279 a0019c0021t0001g0280	4	422	0.0095	637	c.195 others(654): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATATACTAACTATATTAAT ATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(630): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTAAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTAAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATAT AGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTT TTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTT ATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTA AACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTA TATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAG TTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCAT GTAGTTTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAA CTAGTTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03704.hp2 HG02698.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0001g0060 a0001c0002t0001g0064	2	244	0.0082	637	c.342 others(656): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAA AACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAACTATATAGT TTAAAACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTT AAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTATATAGTTTATA TAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAACTATATAAACT ATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTAT ATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATATAAACTAT ATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAACT ATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTAT ATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(630): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAG CCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGG GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	155	0.0065	637	c.155 others(656): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG AGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OR2AJ1_chr1_247919889_247940339	247937455	C C	CCTCCTCC others(630): Show CCTCCTCCCCTCCCATCAGCAGCTCAGGGATGGGGCTGGCTCTGGGGCCT CCTCTTCCATCAACCCCTCAGCTACGGGGCTGGTTCAGGGGACTCCTCCC CTGCCATCAGCAGCTCAGGGATGGGGCTGGCTCTGGGGCCTCCTCTTCCA TCAACCCCTCAGCTACGGGGCTGGTTCAGGGGACTCCTCCCCTGCCATCA GCAGCTCAGGGATGGGGCTGGCTCTGGGGCCTCCTCTTCCATCAACCCCT CAGCTACGGGGCTGGTTCAGGGGACTCCTCCCCTCCCATCAGCAGCTCAG GGATGGGGCTGGCTCTGGGGCCTCCTCTTCCATCAACCCCTCAGCTACGG GGCTGGTTCAGGGGACTCCTCCCCTCCCATCAGCAGCTCAGGGATGGGGC TGGCTCTGGGGCCTCCTCTTCCATCAACCCCTCAGCTACGGGGCTGGTTC AGGGGACTCCTCCCCTGCCATCAGCAGCTCAGGGATGGGGCTGGCTCTGG GGCCTCCTCTTCCATCAACCCCTCAGCTACGGGGCTGGTTCAGGGGACTC CTCCCCTGCCATCAGCAGCTCAGGGATGGGGCTGGCTCTGGGGCCTCCTC TTCCATCAACCCCTCAGCTACGGGGCTGGTTCAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02615.hp1 HG02647.hp2 others(4): Show HG01243.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp2 HG02895.hp2 HG02897.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0002g0020 a0001c0001t0002g0041 others(2): Show a0001c0001t0001g0002 a0001c0001t0002g0020 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0003t0001g0002	7	432	0.0162	637	c.27 others(648): Show c.2700_*2701insCTCCTCCCCTCCCATCAGCAGCTCAGGGATGGGG CTGGCTCTGGGGCCTCCTCTTCCATCAACCCCTCAGCTACGGGGCTGGTT CAGGGGACTCCTCCCCTGCCATCAGCAGCTCAGGGATGGGGCTGGCTCTG GGGCCTCCTCTTCCATCAACCCCTCAGCTACGGGGCTGGTTCAGGGGACT CCTCCCCTGCCATCAGCAGCTCAGGGATGGGGCTGGCTCTGGGGCCTCCT CTTCCATCAACCCCTCAGCTACGGGGCTGGTTCAGGGGACTCCTCCCCTC CCATCAGCAGCTCAGGGATGGGGCTGGCTCTGGGGCCTCCTCTTCCATCA ACCCCTCAGCTACGGGGCTGGTTCAGGGGACTCCTCCCCTCCCATCAGCA GCTCAGGGATGGGGCTGGCTCTGGGGCCTCCTCTTCCATCAACCCCTCAG CTACGGGGCTGGTTCAGGGGACTCCTCCCCTGCCATCAGCAGCTCAGGGA TGGGGCTGGCTCTGGGGCCTCCTCTTCCATCAACCCCTCAGCTACGGGGC TGGTTCAGGGGACTCCTCCCCTGCCATCAGCAGCTCAGGGATGGGGCTGG CTCTGGGGCCTCCTCTTCCATCAACCCCTCAGCTACGGGGCTGGTTCAGG GGA	OR2AJ1	ENSG00000177275.4	transcript	ENST00000318244.4	protein_coding		2117		chr1	TogoVar
PARVB_chr22_44019302_44177939	44112686	G G	GGATACAT others(630): Show GGATACATTGTTACTAAAGCCCTGTACCAACACAGATAGATTGTTACTAA GGCCCTACACCAGAACGGATACATTGTACATTGTAACTAAAGCCCTGCAC CAACACGGACACATCGTTACTAAGGCCCTGCACCAACACAGATACATTGT TACTAAGGCCCTACACCAACACAGATACATTGTTACTAAGTAAGGCCCTG CACCAACACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACAT TGTTACTAACTAAGGCCCTGCACCAGGACAGATACATTGTTACTAAGGCC CTACACCAGCACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACA GATACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTAC TAAGTAAGGCCCTGCACCAGCACAGATACATTGTTACTAAGGCCCTGCAC CAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACAGATACG TTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTA AGGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCA ACACAGATACATTGTTACTAAGGCCCTGCACCAACACA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG02622.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0053 a0001c0002t0058 a0001c0001t0053 a0001c0002t0058	a0001c0001t0053g0126 a0001c0002t0058g0020 a0001c0001t0053g0126 a0001c0002t0058g0020	2	332	0.0060	637	c.274 others(654): Show c.274-6336_274-6335insAGCCCTGTACCAACACAGATAGATTGTT ACTAAGGCCCTACACCAGAACGGATACATTGTACATTGTAACTAAAGCCC TGCACCAACACGGACACATCGTTACTAAGGCCCTGCACCAACACAGATAC ATTGTTACTAAGGCCCTACACCAACACAGATACATTGTTACTAAGTAAGG CCCTGCACCAACACAGATACATTGTTACTAAGGCCCTGCACCAACACAGA TACATTGTTACTAACTAAGGCCCTGCACCAGGACAGATACATTGTTACTA AGGCCCTACACCAGCACAGATACATTGTTACTAACTAAGGCCCTGCACCA ACACAGATACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATT GTTACTAAGTAAGGCCCTGCACCAGCACAGATACATTGTTACTAAGGCCC TGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACAG ATACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACT AACTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTG CACCAACACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACAT TGTTACTAA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44112686	G G	GGATACAT others(630): Show GGATACATTGTTACTAAAGCCCTGTACCAACACAGATAGATTGTTACTAA GGCCCTACACCAGAACGGATACATTGTACATTGTAACTAAAGCCCTGCAC CAACACGGACACATCGTTACTAAGGCCCTGCACCAACACAGATACATTGT TACTAAGGCCCTACACCAACACAGATACATTGTTACTAAGTAAGGCCCTG CACCAACACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACAT TGTTACTAACTAAGGCCCTGCACCAGGACAGATACATTGTTACTAAGGCC CTACACCAGCACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACA GATACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTAC TAAGTAAGGCCCTGCACCAGCACAGATACATTGTTACTAAGGCCCTGCAC CAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACAGATACG TTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTA AGGCCCTGCACCAACACAGATACATTGTTACTAACTACGGCCCTGCACCA ACACAGATACATTGTTACTAAGGCCCTGCACCAACACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp2 HG01891.hp1 HG02818.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0003 a0001c0005t0001 a0001c0005t0003	a0001c0005t0001g0190 a0001c0005t0003g0133 a0001c0005t0001g0190 a0001c0005t0003g0133	2	332	0.0060	637	c.274 others(654): Show c.274-6336_274-6335insAGCCCTGTACCAACACAGATAGATTGTT ACTAAGGCCCTACACCAGAACGGATACATTGTACATTGTAACTAAAGCCC TGCACCAACACGGACACATCGTTACTAAGGCCCTGCACCAACACAGATAC ATTGTTACTAAGGCCCTACACCAACACAGATACATTGTTACTAAGTAAGG CCCTGCACCAACACAGATACATTGTTACTAAGGCCCTGCACCAACACAGA TACATTGTTACTAACTAAGGCCCTGCACCAGGACAGATACATTGTTACTA AGGCCCTACACCAGCACAGATACATTGTTACTAACTAAGGCCCTGCACCA ACACAGATACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATT GTTACTAAGTAAGGCCCTGCACCAGCACAGATACATTGTTACTAAGGCCC TGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACAG ATACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACT AACTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTACGGCCCTG CACCAACACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACAT TGTTACTAA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(630): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGTGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0044 a0044	a0044c0052 a0044c0052	a0044c0052t0049 a0044c0052t0049	a0044c0052t0049g0124 a0044c0052t0049g0124	1	166	0.0060	637	c.633 others(654): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCTCTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(630): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCAGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19002.hp1 NA18948.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0078 a0001c0001t0011g0075 a0001c0001t0001g0078 a0001c0001t0011g0075	2	237	0.0084	637	c.537 others(654): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCTGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCT GGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(630): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01257.hp2 HG01258.hp1 others(25): Show HG00673.hp1 HG01257.hp2 HG01258.hp1 HG02129.hp1 HG02723.hp2 HG03492.hp1 HG03704.hp2 HG03710.hp1 NA18612.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18971.hp1 NA18989.hp1 NA18990.hp1 NA19007.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19079.hp1 NA19085.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0005 a0006c0009 a0001c0001 a0005c0005 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0005c0005t0001 a0006c0009t0001	a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0063 others(25): Show a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0003g0225 a0001c0001t0005g0011 a0005c0005t0001g0068 a0006c0009t0001g0206	28	237	0.1181	637	c.537 others(654): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCT GGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(630): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCTGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	237	0.0042	637	c.537 others(654): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCT GGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(630): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CGGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	237	0.0042	637	c.537 others(654): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCCGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCT GGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(630): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGTC AGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	237	0.0042	637	c.537 others(654): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCT GGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(630): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18983.hp1 NA19081.hp2 NA18747.hp1 NA18983.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0088 a0001c0001t0001g0105 a0001c0001t0001g0107	3	237	0.0127	637	c.537 others(654): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCT GGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PKP3_chr11_389209_409908	401483	A A	ACCCCGGC others(630): Show ACCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCCGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCCGCTCACCCCCCGGCCCCGCTCACACCCCGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACACCCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTC ACCCCCGGCCCCCGCTCACACCCGGCCCCGCTCACACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCGGCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGG CCCCGCTCACACCCGGCCCCGCTCCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCCGCCCC GCTCACACCCCCGCCCCGCTCACACCCCCGGCCCCGCTCACACCCCGGCC CCGCTCACACCCGCCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACACCCCCGGCCCCCGCTCAC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0122 a0001c0003t0001g0122	1	216	0.0046	637	c.173 others(654): Show c.1737+782_1737+783insGGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCC GCCCCGCTCACCCCCGGCCCCGCTCACCCCCCGGCCCCGCTCACACCCCG CCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCCGCCC CGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGC TCACACCCGACCCGCTCACCCCCGGCCCCCGCTCACACCCGGCCCCGCTC ACACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCGGCCCGCTCACAC CCGCCCCGCTCACCCCCGGCCCCCGCTCACCCCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCCACACCCGC CCCGCTCACACCCGGCCCCGCTCACACCCCGGCCCCGCTCACACCCGCCC CGCTCACCCCCCGCCCCGCTCACACCCCCGCCCCGCTCACACCCCCGGCC CCGCTCACACCCCGGCCCCGCTCACACCCGCCCCCGCTCACACCCGCCCC GCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACACCCCCGGCCCCCG CTCACCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PNPLA7_chr9_137454952_137555402	137502685	A A	AGGGGGAT others(630): Show AGGGGGATGTGGGAGATGAGGGGGACGTGGGAGACGAGGGGGACGCGGGG GACGGGGGGGACGCGGGGGACGAGGGGGACGCGGGGGACGGGGGGGACGG GGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGG ACGCGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACG CGGGGGACGCGGGGGACGCGGGGGGGGACGCGGGGGGGGACGCGGGGGGG ACGCGGGGGACGCGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGA CGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGGACGC GGGGGGGACGCGGGGGGGGACGCGGGGGACGGGGGGGGACGCGGGGGACG GGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGACGG GGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGCGGGGG GGACGCGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGGGACGCGGG GGGGACGCGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGACGG GGGGGGACGGGGGGGACGCGGGGGGCGGGGCGGACGGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	188	0.0053	637	c.147 others(654): Show c.1474-959_1474-958insCCCGTCCGCCCCGCCCCCCGCGTCCCCC CCGTCCCCCCCCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCC CCGCGTCCCCCCCGCGTCCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCC CCCCGCGTCCCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCC CGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCC CCGTCCCCCCCGTCCCCCGCGTCCCCCCCCGTCCCCCGCGTCCCCCCCCG CGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCC GTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCGCG TCCCCCGCGTCCCCCCCGCGTCCCCCCCCGCGTCCCCCCCCGCGTCCCCC GCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCG TCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCC CGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCTCGTCCCCCGCGT CCCCCCCGTCCCCCGCGTCCCCCTCGTCTCCCACGTCCCCCTCATCTCCC ACATCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(630): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAG TTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	308	0.0033	637	c.-75 others(656): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTA TAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGTA TTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTA AATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATA TATATTTATAAACTAAATAAATATATATTTATAAACTAAATATATAAATA TATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATA AATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATA TATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(630): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAG TTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	308	0.0033	637	c.-75 others(656): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTA TAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGTA TTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTA AATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATA TATATTTATAAACTAAATAAATATATATTTATAAACTAAATATATAAATA TATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATA AATATATATTTATAAACTAAATATATAAATATATGTTTATAAACTAAATA TATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(630): Show ATGTATACATATAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGCACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATATATGTATATATAATATATACATATATACATGTATATA TTATACATGTATATATTAATATATAATATATAGTATATATATACATGTAT ATATTATATATAAAGTATATATTATATATACGTGTATACAATATATATAC GTGTATATATATTATATACACGTATATATAATATATTGTATACAGGTATA TATACATGTATATAATATATATGTATATATAATATATTGTATACATGTAT ATATATACATGATATATACACATATATATCGTGTATATATACACATATAT GTATATATATACATGATATATACATACATATATATCATGTGTATATATAT ACATAATATACACGTATATATACATACATATATACATGTATATATACACA TATATACATACATATATATACATGTATATATACACACATATATATGTGTA TGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATA TATATATAATTTTACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	170	0.0059	637	c.59- others(654): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATACACACACACACACACACACACA CACATATACATACACATATATATGTGTGTATATATACATGTATATATATG TATGTATATATGTGTATATATACATGTATATATGTATGTATATATACGTG TATATTATGTATATATATACACATGATATATATGTATGTATATATCATGT ATATATATACATATATGTGTATATATACACGATATATATGTGTATATATC ATGTATATATATACATGTATACAATATATTATATATACATATATATTATA TACATGTATATATACCTGTATACAATATATTATATATACGTGTATATAAT ATATATACACGTATATATATTGTATACACGTATATATAATATATACTTTA TATATAATATATACATGTATATATATACTATATATTATATATTAATATAT ACATGTATAATATATACATGTATATATGTATATATTATATATACATATAT GTATATATTATATATACATATATATGTATATATAATATATACATATATGT GCATATAATATACATGTCTATATGTATATATATTATACATACATGTCTAT ATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(630): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGC TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTT TTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAA TCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGC TCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCT AATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTG GTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(113): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18946.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18968.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19057.hp1 NA19063.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0012	a0001c0001 a0001c0006 a0002c0002 others(8): Show a0001c0001 a0001c0006 a0002c0002 a0004c0009 a0005c0007 a0005c0013 a0006c0005 a0007c0008 a0008c0015 a0010c0020 a0012c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0006t0001 a0001c0006t0019 a0002c0002t0001 a0002c0002t0002 a0004c0009t0003 a0005c0007t0001 a0005c0013t0001 a0006c0005t0003 a0007c0008t0002 a0008c0015t0001 a0008c0015t0017 a0010c0020t0001 a0012c0024t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 others(103): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0158 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0216 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0286 a0001c0001t0001g0293 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0318 a0001c0001t0001g0370 a0001c0001t0001g0381 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0396 a0001c0001t0001g0397 a0001c0001t0001g0404 a0001c0001t0001g0405 a0001c0001t0001g0409 a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0002g0034 a0001c0001t0002g0049 a0001c0001t0002g0059 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0009g0091 a0001c0001t0011g0096 a0001c0001t0013g0294 a0001c0006t0001g0110 a0001c0006t0001g0115 a0001c0006t0019g0123 a0002c0002t0001g0004 a0002c0002t0001g0022 a0002c0002t0001g0138 a0002c0002t0001g0142 a0002c0002t0001g0146 a0002c0002t0001g0154 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0171 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0202 a0002c0002t0001g0205 a0002c0002t0001g0214 a0002c0002t0001g0221 a0002c0002t0001g0238 a0002c0002t0001g0268 a0002c0002t0001g0271 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0317 a0002c0002t0001g0378 a0002c0002t0001g0387 a0002c0002t0001g0395 a0002c0002t0001g0403 a0002c0002t0002g0029 a0002c0002t0002g0033 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0047 a0002c0002t0002g0064 a0002c0002t0002g0072 a0002c0002t0002g0075 a0004c0009t0003g0179 a0005c0007t0001g0199 a0005c0007t0001g0200 a0005c0013t0001g0111 a0006c0005t0003g0247 a0007c0008t0002g0009 a0007c0008t0002g0071 a0008c0015t0001g0390 a0008c0015t0017g0374 a0010c0020t0001g0312 a0012c0024t0001g0201	116	454	0.2555	637	c.684 others(652): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGA TCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCC TCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCT AATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCT GGCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTA ATATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACTT GGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(630): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGT TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTT TTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAA TCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGC TCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCT AATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTG GTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp2 HG01952.hp1 others(5): Show HG01261.hp1 HG01358.hp2 HG01952.hp1 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02647.hp1 NA19030.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0003c0003 a0005c0007 others(1): Show a0001c0001 a0003c0003 a0005c0007 a0006c0005	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 others(2): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0005c0007t0001 a0006c0005t0008	a0001c0001t0001g0152 a0003c0003t0001g0234 a0003c0003t0001g0243 others(5): Show a0001c0001t0001g0152 a0003c0003t0001g0234 a0003c0003t0001g0243 a0003c0003t0001g0246 a0003c0003t0002g0036 a0003c0003t0002g0077 a0005c0007t0001g0230 a0006c0005t0008g0244	8	454	0.0176	637	c.684 others(652): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGA TCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCC TCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCT AATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCT GGCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTA ATATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACTT GGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(630): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG TTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTT TTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAA TCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGC TCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCT AATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTG GTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01167.hp1 HG02965.hp2 others(5): Show HG01070.hp2 HG01167.hp1 HG02965.hp2 HG03139.hp1 HG03471.hp1 NA18961.hp1 NA19068.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0004t0001 a0002c0002t0002	a0001c0001t0001g0212 a0001c0001t0001g0287 a0001c0001t0001g0319 others(5): Show a0001c0001t0001g0212 a0001c0001t0001g0287 a0001c0001t0001g0319 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0015g0134 a0001c0004t0001g0328 a0002c0002t0002g0043	8	454	0.0176	637	c.684 others(652): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT GCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTTA ATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCACTT GGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(630): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGC TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTT TTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAA TCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGC TCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCT AATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTG GTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0375 a0001c0001t0001g0375	1	454	0.0022	637	c.684 others(652): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGA TCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCC TCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCT AATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCT GGCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTA ATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCACTT GGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(630): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATATTCCATATATATATATATTCCATAT ATATATATATATTCCATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATGTATATTCCATATATATATATTCCATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	324	0.0031	637	c.115 others(654): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATGGAATATATATATATGGAATATACATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATATATGGAATATATATATATATGGAATATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934405	T T	TATATATA others(630): Show TATATATATATATTCCATATATATATTCCATATATATATATTCCATATAT ATATTCCATATATATATATATTCCATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATTCCATATATATATATTCCA TATATATATTCCATATATATATTCCATATATATATTCCATATATATATTC CATATATATATTCCATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATCTATTCCATATATATAT CTATTCCATATATATATCTATTCCATATATATATCTATTCCATATATATA TATATTCCATATATATATATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0137 a0001c0004t0001g0137	1	324	0.0031	637	c.115 others(654): Show c.115-2635_115-2634insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATAGATATATATATGGAATAGATATATA TATGGAATAGATATATATATGGAATAGATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATGGAATATATATATA TATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATA TATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(630): Show GTATTATATATTATATAATATATAATATATAATGTATTATATATTATATA ATATATAATATATAATGTATTATATATTATATAATATATAATATATAATA TATAATGTATTATATATTATATAATATATAATGTATTATATATTATATAT TATATAATATATAATGTATTATATATTATATAATATATAATATAATGTAT TATATATTATATAATATATAATATATAATGTATTATTATATAATATATAA TATATAGTGTATTATTATATAATATATAATGTATTATATATTATATATTA TATAATATATAATATATAATGTATTATATATTATATAATATATAATATAT AATGTATTATATATTATATAATATATGATATATAATGTATTATATATTAT ATAATATATGATATATAATGTATTATATATTATATAATATATGATATATA ATGTATTATATATTATATAATATATGATATATAATGTATTATATATTATA TAATATATAATATATAATGTATTATATATTATATAATATATAATATATAA TGTATTATATATTATATAATATATAATATATAATGTATTATATATTATAT AATATATAATATATAATGTATTATATATTATATAATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0022 a0001c0005t0001g0022	1	290	0.0035	637	c.234 others(654): Show c.234-7088_234-7087insATATTATATAATATATAATACATTATAT ATTATATATTATATAATATATAATACATTATATATTATATATTATATAAT ATATAATACATTATATATTATATATTATATAATATATAATACATTATATA TTATATATTATATAATATATAATACATTATATATCATATATTATATAATA TATAATACATTATATATCATATATTATATAATATATAATACATTATATAT CATATATTATATAATATATAATACATTATATATCATATATTATATAATAT ATAATACATTATATATTATATATTATATAATATATAATACATTATATATT ATATATTATATAATATATAATATATAATACATTATATATTATATAATAAT ACACTATATATTATATATTATATAATAATACATTATATATTATATATTAT ATAATATATAATACATTATATTATATATTATATAATATATAATACATTAT ATATTATATAATATATAATATATAATACATTATATATTATATAATATATA ATACATTATATATTATATATTATATATTATATAATATATAATACATTATA TATTATATATTATATAATATATAATACATTATATATTATATATTATATAA TATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(630): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATAAATATAAATATATTATATATAATATAT AATATAAATATATTATATATAATATATAATATAAATATATTATATATAAT ATATATAATATATATATTATATATAATATATATAATATATATATTATATA TATTATATATATTATATATAATATAAATATATTATATATAATATATATAA TATAAATATATTATATATAATATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA TATATATTATATATAATATAAATATATTATATATATTATATATAATATAA ATATATTATATATATTATATATAATATAAATATATTATATATATTATATA TAATATAAATATATTATATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0177 a0001c0001t0004g0177	1	346	0.0029	637	c.-70 others(654): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATATTATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATAAT ATATATAATATATATAATATATATATTATATATATTATATATAATATATA TATTATATATATTATATATAATATATTTATATTATATATTATATATAATA TATTTATATTATATATTATATATAATATATTTATATTTATATTATATATA ATATATTTATATTTATATAATATATAATATATTTATATTTATATATAATA TATATAATATATTTATATTTATGTATAATATATATAATATATTTATATTT ATGTATAATATATATAATATATTTATATTTATGTATAATATATATAATAT ATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(630): Show GAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGGGAGAGGGAGGGAGG GTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGT GGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGG GAGGCAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGG GGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGG GAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGA GGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGGAGAGGGA GGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGAGGGACGCAGG GGGAGAGGTAGGGAGGGAGAGAGGGAGGAAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01167.hp2 others(4): Show HG00639.hp2 HG01106.hp1 HG01167.hp2 HG01496.hp1 HG02109.hp1 HG02735.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0010 a0001c0016 a0002c0002 others(1): Show a0001c0010 a0001c0016 a0002c0002 a0003c0057	a0001c0010t0008 a0001c0016t0008 a0001c0016t0038 others(3): Show a0001c0010t0008 a0001c0016t0008 a0001c0016t0038 a0002c0002t0008 a0002c0002t0020 a0003c0057t0020	a0001c0010t0008g0068 a0001c0010t0008g0071 a0001c0016t0008g0080 others(4): Show a0001c0010t0008g0068 a0001c0010t0008g0071 a0001c0016t0008g0080 a0001c0016t0038g0132 a0002c0002t0008g0022 a0002c0002t0020g0119 a0003c0057t0020g0096	7	132	0.0530	637	c.227 others(656): Show c.2271-2055_2271-2054insTCTCTCCCTTCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTGCCTCCCCCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCC TCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTC CCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTC CCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCCACCCTCCCTC CCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCC TCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTC CCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCACCC TCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCTC CCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(630): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGAGGAGAGGGGAGGGG GAAGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGG GGGAGGGGGAGGGGGAGGGGGGGGAGGGAGGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGG AGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAG GAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGAGGGGAGGGGAG GAGGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGA GGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	637	c.12 others(648): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCCTCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCC CCTCCTCCCCTCCCCTCTCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTC CCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTC CCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCC TCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCC CTCCCTCCTCCCCTCCCCCTCCCCCTCCCTCCCCCCCCTCCCCCTCCCCC TCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCATCCCC CTTCCCCCTCCCCTCTCCTCTCCTCACCCCTCCTCTCCCCTCTCCCTTCC CCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCA CCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCC TCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(630): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGAGGAGAGGGGAGGGG GAAGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGG GGGAGGGGGAGGGGGAGGGGGGGGAGGGAGGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGG AGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAG GAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGG GAGGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAG AGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	637	c.12 others(648): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCC CCTCCCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTC CCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTC CCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCC TCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCC CTCCCTCCTCCCCTCCCCCTCCCCCTCCCTCCCCCCCCTCCCCCTCCCCC TCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCATCCCC CTTCCCCCTCCCCTCTCCTCTCCTCACCCCTCCTCTCCCCTCTCCCTTCC CCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCA CCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCC TCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(630): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAG GGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGG GGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGG GGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAG AGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	637	c.12 others(648): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCC TTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCC TCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCT CCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCC TCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCC CCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTT CCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCC CCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCA CCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCC TCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(630): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACA GGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGA CAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0008 a0006c0010t0008	a0006c0010t0008g0313 a0006c0010t0008g0313	1	356	0.0028	637	c.245 others(654): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAA GTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTT TTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTT GTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(630): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCC CAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	422	0.0024	637	c.64 others(648): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCC GCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACA GGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGG GCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACC CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(630): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGTGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	422	0.0024	637	c.64 others(648): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCC CGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACA GGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGG GCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACC CCACCCCCACTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(630): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGTGGGG GTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GGAGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGC CCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGC CTGGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	422	0.0024	637	c.64 others(648): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCC CCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGC ACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGC CTCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACC CCACCCCCACTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
TCF25_chr16_89868592_89916379	89908689	C C	CCTCCCTC others(630): Show CCTCCCTCCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCAC CTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACC TTCCAGCTCCCAGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCT CCCTCCTCCCACCTCCCACCTCCCAGCTCCCGCCTCCCACCTCCCACCTC CCACCTCCCTCCTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGC CACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCC ACCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCA GCTCCCTCCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGC CTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCC TCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCACCC CCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTC CCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCC TTCCTCGCAGTTCCCACCTCCCAGTTCCCAGCTCCCAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0281 a0002c0003t0001g0281	1	300	0.0033	637	c.179 others(656): Show c.1799+1372_1799+1373insTCCTCCCACCTCCCAGTTCCCGCCTC CCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCC CACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCTCCC GGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCCCG CCTCCCACCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCCAT CTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGT TCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTAGTT CCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCTCCTTTCACCTC CCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTC CAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCC AACTCCCTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCC GTTCCCACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCAC CTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCAGTTCCCAGC TCCCAGCTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89908690	C C	CTCCCTCC others(630): Show CTCCCTCCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCAGTTCCCGCC TCCCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCT CCCACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCTC CCGGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCC CACCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCC ATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCA GTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTAG TTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCACCTCCCTCC TTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCT CCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACCTC CCAGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCC CAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCTC TCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	300	0.0033	637	c.179 others(656): Show c.1799+1372_1799+1373insTCCTCCCAGCTCCCACCTCCCTCCTC CCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCTCCTCC CAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAGCTCCC AGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCA CCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCTC CTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGCCACCTCCCAGC TTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCT CCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTC CCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCC CACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCC AGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCA CCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCAC CTCCCTCCTCCCACCTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCC TCGCAGTTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF3_chr19_1604292_1657615	1628706	A A	ATGAGGCG others(630): Show ATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGG GGGTGAGGCGGGAAGGGGACAGCAGAACTCACAGGGTGAGGCGGGAAGGG GACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAG GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACG GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACG GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACG GGGTAAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACA GGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	352	0.0028	637	c.299 others(654): Show c.299-1281_299-1280insCCCCGTGAGTTCTGCTGTCCCCTTCCCG CCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCC CGCCTTACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAG TTCTGCTGTCCCCTTCCCGCCTCACCCTGTGAGTTCTGCTGTCCCCTTCC CGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTT CCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THEG_chr19_356747_381026	377554	G G	GCCCCACC others(630): Show GCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCC CGTGCCTCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CCCCGTGCCTCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCC TCTCCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCC AGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCGTGCCCCC ACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGT GCCCCACCCAGCCTCTCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CCCCGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	370	0.0027	637	c.-15 others(648): Show c.-1585_-1584insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGCAC GGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGAGAGGCTGGGTG GGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCT GGGTGGGGGCACGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG GAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGAGGCAC GGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGAGG CACGGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTG GGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1529		chr19	TogoVar
TM4SF19_chr3_196318547_196343388	196334825	G G	GATGCCCT others(630): Show GATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGG GTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGA AGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTG AGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTA GGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGG TGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTG GGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGG AAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGG GAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGG AGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGC CCCGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGG TGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAG GGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	370	0.0027	637	c.-2+ others(652): Show c.-2+3438_-2+3439insTCCCTTCCCTCTCCTACACCCACCCTCCCA GTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCCCT CTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACC TTCTCGGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCC TCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCCCTCTCCTACAC CCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGG CATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTC CTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTC CCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTT CCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCC CACCTTCTCAGGGCACCCTTCCCTCTCCTACACCCACCCTCCCAGTGCAC CCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCT ACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTC AGGGCAT	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196334825	G G	GATGCCCT others(630): Show GATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGG GTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGA AGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTG AGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTA GGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGG TGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTG GGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGG AAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGG GAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGG AGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGC CCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGG TGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAG GGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01175.hp1 HG01928.hp1 others(2): Show HG01099.hp1 HG01175.hp1 HG01928.hp1 HG01981.hp1 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0050 a0002c0002t0001g0051 others(1): Show a0002c0002t0001g0018 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052	5	370	0.0135	637	c.-2+ others(652): Show c.-2+3438_-2+3439insTCCCTTCCCTCTCCTACACCCACCCTCCCA GTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCCCT CTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACC TTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCC TCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCCCTCTCCTACAC CCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGG CATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTC CTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTC CCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTT CCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCC CACCTTCTCAGGGCACCCTTCCCTCTCCTACACCCACCCTCCCAGTGCAC CCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCT ACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTC AGGGCAT	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(630): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCT CCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTC CTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0242 a0001c0001t0004g0242	1	384	0.0026	637	c.424 others(654): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCT CCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCC TCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar

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Search Results (Total: 10000 hits)