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
GSE1_chr16_85608322_85681200	85653242	T T	TCCCCCCT others(544): Show TCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCC TCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCC TCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCC CCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCTTCCCCC TCCTCCTCCTCCTCCCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCCCCCTCCTCCTCCCCCCCCCTCCTCCTCCCCCCCCTCCTC CTCCCCCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCCCCCTCCTCCTCCC CC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0003 a0002c0016t0003	a0002c0016t0003g0104 a0002c0016t0003g0104	1	290	0.0035	551	c.427 others(568): Show c.427-1034_427-1033insCCCCTCCTCCCCCCCTCCTCCCCCCTCC TCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCC CCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCTCCTTCCCCCTCCTCCTCCTCCTCCCCCCCCTCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCCT CCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCCCCCCCCTCCTCCTCCT CCCCCCCCCTCCTCCTCCCCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HCN2_chr19_584881_622159	602167	T T	TCTCCTGC others(544): Show TCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTC TC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0364 a0002c0004t0004g0364	1	408	0.0025	551	c.633 others(568): Show c.633-1290_633-1289insTCCTCCTCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTC TCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602382	C C	CCCTCCTC others(544): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGATGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACCTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACCTCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACCTCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC CTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCAC CT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0387 a0001c0001t0004g0387	1	408	0.0025	551	c.633 others(568): Show c.633-1120_633-1119insCTGCGTGGACGCCCCACTCCCTCCTCTC TCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGATGC CCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACCTCCTCCTCTCTCCTCCT GCGTGGACGCCCCACCTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACCTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACCTCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTTCCTCCTCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IFFO2_chr1_18899280_18961676	18925960	T T	TTGGATGG others(544): Show TTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02083.hp2 NA18941.hp1 others(1): Show HG00438.hp1 HG02083.hp2 NA18941.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017	a0001c0001t0001g0130 a0001c0001t0004g0201 a0001c0001t0005g0126 others(1): Show a0001c0001t0001g0130 a0001c0001t0004g0201 a0001c0001t0005g0126 a0001c0001t0017g0131	4	376	0.0106	551	c.666 others(568): Show c.666-4840_666-4839insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA ACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322899	A A	AATATATA others(544): Show AATATATACGGAATATATATACGGAATGTATATACGGAATATATATACGG AATGTATATATATGGAATATATATACGGAATGTATATACGGAATATATAT ATATGGAATATATATACGGAATATATATATATGGAATATATATACGGAAT ATATATATATGGAATATATATACGGAATATATATATATGGAACATATATA TACGGAATATATACATATGGAACATATATATATGGAATATATACATATGG AACATATATATGGAATATATACATATGGAACATATATATGGAATATATAC ATATGGAACATATATATGGAATATATATATATGGAATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATGGAATATATATATATGGAATATATATATATGGA AT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0143 a0003c0003t0004g0143	1	323	0.0031	551	c.-21 others(562): Show c.-2157_-2156insATATATACGGAATATATATACGGAATGTATATAC GGAATATATATACGGAATGTATATATATGGAATATATATACGGAATGTAT ATACGGAATATATATATATGGAATATATATACGGAATATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TATGGAACATATATATACGGAATATATACATATGGAACATATATATATGG AATATATACATATGGAACATATATATGGAATATATACATATGGAACATAT ATATGGAATATATACATATGGAACATATATATGGAATATATATATATGGA ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATGGAATATATATATATGGA ATATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2070		chr21	TogoVar
IQCJ_chr3_159064319_159268747	159229714	C C	CCCCCCAC others(544): Show CCCCCCACCCACCCCTCCCCTCTCCTCCCCCAACCACCCTGTCCCTCCTC CCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCACCTCC ATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCCCCCCT CCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACCTCCTC CTCTCCCCTCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCCTCC TCTCTCCCCCCCTCTCCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCC CCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC CCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCCACCTCC CCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCC ACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTC CT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	252	0.0040	551	c.10- others(568): Show c.10-16129_10-16128insCCCCCACCCACCCCTCCCCTCTCCTCCC CCAACCACCCTGTCCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCC CACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCTCCCCTCCCCTCCTCGTCCTCCTCCC CCTCCTCCTCTCCCCCCCTCCTCTCTCCCCCCCTCTCCCCCCTCCTCCTC CCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCCT CCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC TGTCTTCCTCCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTC CCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACC TCCCCCCTCCTCCCACTCCTCCT	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3			chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(544): Show CTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTC TCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCCCCCTCTCTCCCCTC CCCCTCCCCTCTCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCCCCTCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTCTCTCCCCCT TCCCTCCCCCCTCTCCCCCTCCTCCTCCCCCCTCCCCCTCCCCCCATCCC CCTCCCCCGTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCATCCCCATCCC CCTCCTTCCCTCTCCCCCTCCCCCATCCCCATCCCCCTCCTTCCCTCTCC CCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCC TCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTT CCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCC CTCTGTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCC TG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0009 a0002c0008t0003g0009	1	158	0.0063	551	c.11 others(572): Show c.1103+4103_*1103+4104insTCCCCCTCCCCTCCCCCTCTCTCT CCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTC CCCCTCTCTCCCCTCCCCCTCCCCTCTCTCCCCCTCCCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCTCTCCC CCTCTCTCTCCCCCTTCCCTCCCCCCTCTCCCCCTCCTCCTCCCCCCTCC CCCTCCCCCCATCCCCCTCCCCCGTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCATCCCCATCCC CCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCT TCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTC TCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTC TCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTTCCCTCTCTCTCTCT CCCCCTCCTTCCCCCTGTCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA0232_chr4_6777727_6889164	6879826	C C	CCCCTCAC others(544): Show CCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCC GTCTGCAGTGCCCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCT TCCCAACACACCCATCTGCAGTGCCCCCTCACCATCTGTACTGTGTCACT GCAAACTCCCTTCCCAACACACAGGTCTGCAGTGTCCCCTCACCATCTGT ACTGTGTCACTGCAAACTCCCTTCCCAACACACAGATCTGCAGTGTCCCC TCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCT GTAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAA CACACAGGTCTGTAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAAC TCCCTTCCCAACACAGAGGTCTGCAGTGCCCCCTCACCATCTGTACTGTG TCACTGCAAACTCCCTTCCCAACACACCCGTCTGCAGTGCCCCCCCTCAC CATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCCATCTGCAG TG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0165 a0001c0001t0004g0165	1	362	0.0028	551	c.400 others(568): Show c.4009-958_4009-957insTCACCATCTGTACTGTGTCACTGCAAAC TCCCTTCCCAACACACCCGTCTGCAGTGCCCCCCCTCACCATCTGTACTG TGTCACTGCAAACTCCCTTCCCAACACACCCATCTGCAGTGCCCCCTCAC CATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAG TGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACA CAGATCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCC TTCCCAACACACAGGTCTGTAGTGTCCCCTCACCATCTGTACTGTGTCAC TGCAAACTCCCTTCCCAACACACAGGTCTGTAGTGTCCCCTCACCATCTG TACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGCCCC CTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCCGTC TGCAGTGCCCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCC CAACACACCCATCTGCAGTGCCC	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATTTAT others(544): Show ATATTTATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATATTTATATATATTATATATATATATTTATATATATA TATTTTTATATATATTTATATATATTTTTATATATAGTTATATATATTTA TATATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTA TATATAGTTATATATATAGTTATATATAGTTATATATATATTTATATATA TATATTTTTATATATATATTTATATATATATATTTTTATATATATATTTA TATATATTTATATATATTTATATATATAAATATATATATATTTATATATA TATTTATATATATAAATATATATATATTTATATATATATTTATATATATT TATATATATTTATATATATTTATATATTTATATATGTATTTATATATATT TATATATGTATTTATATATATTTATATATAATTATATGTATTGATATATA TT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	260	0.0039	551	c.125 others(568): Show c.125+9673_125+9674insTTATATATATTTATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATTTATATATATTT ATATATATATTTATATATATATTTATATATATATTTATATATATTATATA TATATATTTATATATATATATTTTTATATATATTTATATATATTTTTATA TATAGTTATATATATTTATATATAGTTATATATATTTATGTATAGTTATA TATAGTTATGTATAGTTATATATAGTTATATATATAGTTATATATAGTTA TATATATATTTATATATATATATTTTTATATATATATTTATATATATATA TTTTTATATATATATTTATATATATTTATATATATTTATATATATAAATA TATATATATTTATATATATATTTATATATATAAATATATATATATTTATA TATATATTTATATATATTTATATATATTTATATATATTTATATATTTATA TATGTATTTATATATATTTATATATGTATTTATATATATTTATATATAAT TATATGTATTGATATATATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LY75_chr2_159798355_159909756	159874258	A A	AAATATAT others(544): Show AAATATATTGTAAATATATGTTTTGTAAATATATAAATATATATATGTTT TGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAATATAT ATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATATAAAT ATATATGTTTTGTAAATATATATAAATATGTTTTGTAAATATATAAATAT ATATTTTGTAAATATATATATATTTTGTAAATATATATTGTAAATATATA TAAATATATATTTTGTGAATTATATATATATTGTAAATTATATATATATT TTGTAAATATATATAGTAAATATATATATTTTGTAAATATGTATATATAT TTTGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAATATA TACATTTTGTAAATATATAAATATATACATTTTGTAAATATATAAAAATA TATACATTTTGTAACTATATAAAAATATATGTTGTAAATATATAAAAATA TATATATTTTGTAAATATATAAATATATATATTTTGTAAATATATATATA TT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0155 a0004c0010t0001g0155	1	330	0.0030	551	c.197 others(570): Show c.1974+1185_1974+1186insAATATATATATATTTACAAAATATAT ATATTTATATATTTACAAAATATATATATTTTTATATATTTACAACATAT ATTTTTATATAGTTACAAAATGTATATATTTTTATATATTTACAAAATGT ATATATTTATATATTTACAAAATGTATATATTTACAAAATATATATACAT ATTTACAAAATATATATATTTACAAAATATATATACATATTTACAAAATA TATATATTTACTATATATATTTACAAAATATATATATAATTTACAATATA TATATAATTCACAAAATATATATTTATATATATTTACAATATATATTTAC AAAATATATATATATTTACAAAATATATATTTATATATTTACAAAACATA TTTATATATATTTACAAAACATATATATTTATATATATTTACAAAACATA TATATTTATATATATTTACAAAACATATATATTTATATATATTTACAAAA CATATATATATTTATATATATTTACAAAACATATATATATTTATATATTT ACAAAACATATATTTACAATATATT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(544): Show TCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCGCCTTACCCACT ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACAACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCC ACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCT CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTAC CCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCC CC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	378	0.0027	551	c.147 others(570): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGG CGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGAC CCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGG GCCTAGGGACACAAGGTAGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDUFV3_chr21_42888309_42918299	42894402	T T	TATATATA others(544): Show TATATATAAATATATAATATATATAATATATATTATATATAAATATATAA TATATATTATATATTATATATATTATAATATATATAATATATAATATATA TTATATATAAATATATATAATATATAATATATATTATATATAAATATATA TAATATATAATATATATTATATATAAATATATATAATATATAATATATAT TATATATAAATATATATAATATATAATATATATTATATATAAATATATAT AATATATAATATATATTATATATAAATATATATAATATATAATATATATT ATATATAAATATATATATAATATATAATATATATTATATATAAATATATA ATATATAATATATATTATATTATATATTATATAATATGTAAATATATATT ATATATATTATATAATATATAATATATTATATATATTATATAATATATTA TATATAATATAATATATTATATATTATATAATATATTATATAATATATAA TATATTATATAATATATAATATATTATATATTATATAATATATAATATAT AA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0162 a0002c0003t0020g0162	1	348	0.0029	551	c.48+ others(566): Show c.48+1021_48+1022insATATATAAATATATAATATATATAATATAT ATTATATATAAATATATAATATATATTATATATTATATATATTATAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATATAATATATATTATATATAAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATAATATATAATATATATTATATATAAATATATATATAATATATAATATA TATTATATATAAATATATAATATATAATATATATTATATTATATATTATA TAATATGTAAATATATATTATATATATTATATAATATATAATATATTATA TATATTATATAATATATTATATATAATATAATATATTATATATTATATAA TATATTATATAATATATAATATATTATATAATATATAATATATTATATAT TATATAATATATAATATATAA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(544): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	356	0.0028	551	c.91+ others(564): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(544): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCG GGGGGTGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGG GC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	356	0.0028	551	c.91+ others(564): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGCTGAGGGAGTC GGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPEPL1_chr20_58687800_58720844	58695018	T T	TGTTGCGT others(544): Show TGTTGCGTGTGTATGAGTGCTGGTGTGTGCATGAATGGTGTGTGTGGTGT GTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGCTGGTGTGTGCATGAGTG GCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTATGAGTGTTGGTGTGTGCA TGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGGTGTGTGTTGCTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTACGTGTGT GTGTTGCTGTGTGTGTGTTTGAGTGCTGGTGTGTGCATGAGTGATGTGTG TGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGTTTGAGTTCTGGTATGTG CATGAGTGGTGTGTGTGTGTGCTGTGTGTGTGGTGTGTTGCTGTGTGTGT ATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGTATTTGCGGTGTGTGTTG CTGTGTATATGTGAGTGCTGGTGTGTGCATGAGTGGCGTGTGTGGTGTGT ATGTGTGGTGTGTGTTGCTGTTTGTGTTTGAGTGCTGATGTGTGCATGAG TG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02145.hp1 others(24): Show HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0006 a0003c0013 a0001c0004 a0002c0006 a0003c0013	a0001c0004t0003 a0001c0004t0005 a0002c0006t0002 others(1): Show a0001c0004t0003 a0001c0004t0005 a0002c0006t0002 a0003c0013t0003	a0001c0004t0003g0004 a0001c0004t0003g0045 a0001c0004t0003g0077 others(17): Show a0001c0004t0003g0004 a0001c0004t0003g0045 a0001c0004t0003g0077 a0001c0004t0003g0079 a0001c0004t0003g0261 a0001c0004t0003g0263 a0001c0004t0003g0264 a0001c0004t0003g0265 a0001c0004t0003g0266 a0001c0004t0003g0267 a0001c0004t0003g0268 a0001c0004t0003g0269 a0001c0004t0003g0270 a0001c0004t0003g0271 a0001c0004t0003g0272 a0001c0004t0003g0273 a0001c0004t0005g0258 a0002c0006t0002g0262 a0003c0013t0003g0076 a0003c0013t0003g0078	27	398	0.0678	551	c.507 others(566): Show c.507+428_507+429insTGCGTGTGTATGAGTGCTGGTGTGTGCATG AATGGTGTGTGTGGTGTGTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGC TGGTGTGTGCATGAGTGGCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGG TGTGTGTTGCTGTGTATGAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGT GCTGTGTGTACGTGTGTGTGTTGCTGTGTGTGTGTTTGAGTGCTGGTGTG TGCATGAGTGATGTGTGTGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGT TTGAGTTCTGGTATGTGCATGAGTGGTGTGTGTGTGTGCTGTGTGTGTGG TGTGTTGCTGTGTGTGTATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGT ATTTGCGGTGTGTGTTGCTGTGTATATGTGAGTGCTGGTGTGTGCATGAG TGGCGTGTGTGGTGTGTATGTGTGGTGTGTGTTGCTGTTTGTGTTTGAGT GCTGATGTGTGCATGAGTGGT	NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
NPEPL1_chr20_58687800_58720844	58695018	T T	TGTTGCGT others(544): Show TGTTGCGTGTGTATGAGTGCTGGTGTGTGCATGAATGGTGTGTGTGGTGT GTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGCTGGTGTGTGCATGAGTG GCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTATGAGTGTTGGTGTGTGCA TGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGGTGTGTGTTGCTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTACGTGTGT GTGTTGCTGTGTGTGTGTTTGAGTGCTGGTGTGTGCATGAGTGGTGTGTG TGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGTTTGAGTTCTGGTATGTG CATGAGTGGTGTGTGTGTGTGCTGTGTGTGTGGTGTGTTGCTGTGTGTGT ATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGTATTTGCGGTGTGTGTTG CTGTGTATATGTGAGTGCTGGTGTGTGCATGAGTGGCGTGTGTGGTGTGT ATGCGTGGTGTGTGTTGCTGTTTGTGTTTGAGTGCTGATGTGTGCATGAG TG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19065.hp2 NA18988.hp1 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0093 a0001c0003t0003g0094 a0001c0003t0003g0093 a0001c0003t0003g0094	2	398	0.0050	551	c.507 others(566): Show c.507+428_507+429insTGCGTGTGTATGAGTGCTGGTGTGTGCATG AATGGTGTGTGTGGTGTGTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGC TGGTGTGTGCATGAGTGGCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGG TGTGTGTTGCTGTGTATGAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGT GCTGTGTGTACGTGTGTGTGTTGCTGTGTGTGTGTTTGAGTGCTGGTGTG TGCATGAGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGT TTGAGTTCTGGTATGTGCATGAGTGGTGTGTGTGTGTGCTGTGTGTGTGG TGTGTTGCTGTGTGTGTATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGT ATTTGCGGTGTGTGTTGCTGTGTATATGTGAGTGCTGGTGTGTGCATGAG TGGCGTGTGTGGTGTGTATGCGTGGTGTGTGTTGCTGTTTGTGTTTGAGT GCTGATGTGTGCATGAGTGGT	NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
NPEPL1_chr20_58687800_58720844	58695018	T T	TGTTGCGT others(544): Show TGTTGCGTGTGTATGAGTGCTGGTGTGTGCATGAATGGTGTGTGTGGTGT GTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGCTGGTGTGTGCATGAGTG GCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTATGAGTGTTGGTGTGTGCA TGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGGTGTGTGTTGCTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTACGTGTGT GTGTTGCTGTGTGTGTGTTTGAGTGCTGGTGTGTGCATGAGTGGTGTGTG TGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGTTTGAGTTCTGGTATGTG CATGAGTGGTGTGTGTGTGTGCTGTGTGTGTGGTGTGTTGCTGTGTGTGT ATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGTATTTGCGGTGTGTGTTG CTGTGTATATGTGAGTGCTGGTGTGTGCATGAGTGGCGTGTGTGGTGTGT ATGTGTGGTGTGTGTTGCTGTTTGTGTTTGAGTGCTGATGTGTGCATGAG TG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(208): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0005 others(10): Show a0001c0001 a0001c0003 a0001c0005 a0001c0012 a0002c0002 a0002c0006 a0002c0007 a0002c0008 a0002c0010 a0003c0016 a0003c0018 a0003c0019 a0004c0017	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(16): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0010 a0001c0005t0001 a0001c0005t0003 a0001c0012t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0006t0002 a0002c0007t0002 a0002c0008t0004 a0002c0010t0004 a0003c0016t0001 a0003c0018t0003 a0003c0019t0009 a0004c0017t0003	a0001c0001t0001g0244 a0001c0003t0001g0031 a0001c0003t0001g0038 others(164): Show a0001c0001t0001g0244 a0001c0003t0001g0031 a0001c0003t0001g0038 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0059 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0083 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0096 a0001c0003t0003g0111 a0001c0003t0003g0112 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0117 a0001c0003t0003g0118 a0001c0003t0003g0119 a0001c0003t0003g0120 a0001c0003t0003g0138 a0001c0003t0003g0183 a0001c0003t0003g0184 a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 a0001c0003t0010g0182 a0001c0005t0001g0030 a0001c0005t0001g0064 a0001c0005t0001g0081 a0001c0005t0001g0082 a0001c0005t0001g0100 a0001c0005t0003g0037 a0001c0005t0003g0101 a0001c0005t0003g0102 a0001c0005t0003g0123 a0001c0005t0003g0147 a0001c0005t0003g0150 a0001c0005t0003g0153 a0001c0005t0003g0161 a0001c0005t0003g0164 a0001c0005t0003g0165 a0001c0005t0003g0168 a0001c0005t0003g0171 a0001c0012t0001g0243 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0072 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0109 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0144 a0002c0002t0002g0148 a0002c0002t0002g0152 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0275 a0002c0002t0004g0027 a0002c0002t0004g0029 a0002c0002t0004g0046 a0002c0002t0004g0047 a0002c0002t0004g0048 a0002c0002t0004g0055 a0002c0002t0004g0056 a0002c0002t0004g0057 a0002c0002t0004g0058 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0062 a0002c0002t0004g0071 a0002c0002t0004g0080 a0002c0002t0004g0149 a0002c0002t0006g0003 a0002c0002t0006g0011 a0002c0002t0007g0029 a0002c0006t0002g0026 a0002c0006t0002g0245 a0002c0006t0002g0246 a0002c0006t0002g0247 a0002c0006t0002g0248 a0002c0006t0002g0249 a0002c0006t0002g0250 a0002c0006t0002g0251 a0002c0006t0002g0252 a0002c0006t0002g0253 a0002c0006t0002g0254 a0002c0006t0002g0255 a0002c0006t0002g0256 a0002c0006t0002g0257 a0002c0007t0002g0008 a0002c0007t0002g0032 a0002c0007t0002g0095 a0002c0007t0002g0103 a0002c0007t0002g0104 a0002c0007t0002g0105 a0002c0007t0002g0106 a0002c0007t0002g0107 a0002c0007t0002g0108 a0002c0007t0002g0129 a0002c0007t0002g0143 a0002c0007t0002g0145 a0002c0007t0002g0146 a0002c0007t0002g0151 a0002c0007t0002g0172 a0002c0008t0004g0189 a0002c0008t0004g0195 a0002c0008t0004g0241 a0002c0010t0004g0019 a0003c0016t0001g0242 a0003c0018t0003g0110 a0003c0019t0009g0069 a0004c0017t0003g0037	211	398	0.5302	551	c.507 others(566): Show c.507+428_507+429insTGCGTGTGTATGAGTGCTGGTGTGTGCATG AATGGTGTGTGTGGTGTGTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGC TGGTGTGTGCATGAGTGGCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGG TGTGTGTTGCTGTGTATGAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGT GCTGTGTGTACGTGTGTGTGTTGCTGTGTGTGTGTTTGAGTGCTGGTGTG TGCATGAGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGT TTGAGTTCTGGTATGTGCATGAGTGGTGTGTGTGTGTGCTGTGTGTGTGG TGTGTTGCTGTGTGTGTATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGT ATTTGCGGTGTGTGTTGCTGTGTATATGTGAGTGCTGGTGTGTGCATGAG TGGCGTGTGTGGTGTGTATGTGTGGTGTGTGTTGCTGTTTGTGTTTGAGT GCTGATGTGTGCATGAGTGGT	NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
NPEPL1_chr20_58687800_58720844	58695018	T T	TGTTGCGT others(544): Show TGTTGCGTGTGTATGAGTGCTGGTGTGTGCATGAATGGTGTGTGTGGTGT GTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGCTGGTGTGTGCATGAGTG GCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTATGAGTGTTGGTGTGTGCA TGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGGTGTGTGTTGCTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTACGTGTGT GTGTTGCTGTGTGTGTGTTTGAGTGCTGGTGTGTGCATGAGTGGTGTGTG TGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGTTTGAGTTCTGGTATGTG CATGAGTGGTGTGTGTGTGTGCTGTGTGTGTGGTGTGTTGCTGTGTGTGT ATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGTATTTGTGGTGTGTGTTG CTGTGTATATGTGAGTGCTGGTGTGTGCATGAGTGGCGTGTGTGGTGTGT ATGTGTGGTGTGTGTTGCTGTTTGTGTTTGAGTGCTGATGTGTGCATGAG TG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0181 a0002c0002t0002g0181	1	398	0.0025	551	c.507 others(566): Show c.507+428_507+429insTGCGTGTGTATGAGTGCTGGTGTGTGCATG AATGGTGTGTGTGGTGTGTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGC TGGTGTGTGCATGAGTGGCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGG TGTGTGTTGCTGTGTATGAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGT GCTGTGTGTACGTGTGTGTGTTGCTGTGTGTGTGTTTGAGTGCTGGTGTG TGCATGAGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGT TTGAGTTCTGGTATGTGCATGAGTGGTGTGTGTGTGTGCTGTGTGTGTGG TGTGTTGCTGTGTGTGTATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGT ATTTGTGGTGTGTGTTGCTGTGTATATGTGAGTGCTGGTGTGTGCATGAG TGGCGTGTGTGGTGTGTATGTGTGGTGTGTGTTGCTGTTTGTGTTTGAGT GCTGATGTGTGCATGAGTGGT	NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(544): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCACCCTCCCCCCCTCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTT CCCCTCCCCTCCCCCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCTTCCCC TCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCT CC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0039 a0001c0001t0036g0039	1	326	0.0031	551	c.433 others(568): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(544): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGG GGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGGGAGGGAGAGG GAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGG GGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGG GTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAG AGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGGAGGGAGAGAGATGGGG GAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGG GACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGA GGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0162 a0001c0004t0002g0162	1	386	0.0026	551	c.92 others(562): Show c.9222_*9223insTCCCTCTCTCTCCCTCTCTCTCTCACTCCCTTTC CCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTC CTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCA TCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCCTCCCTCCCT CTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCT CCCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCT CCCTCCCTCCCCTCCCACCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCC CCTCCCTCTCCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCTC CCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCCCCCTCTCCCTCCCTC TCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCCCT CTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCCC CCCTCTCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(544): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTATAGAGTATATATACTATATATACTCTATAGTATATATA GTATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG01168.hp1 others(5): Show HG01070.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG02300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0168 a0001c0001t0001g0181 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0168 a0001c0001t0001g0181 a0002c0002t0001g0019 a0002c0002t0001g0170	8	439	0.0182	551	c.-16 others(562): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTATAGAGTATATATACTATATATAC TCTATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(544): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATA CTATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTACATATACTCTATA GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	439	0.0023	551	c.-16 others(562): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATAC TATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TACATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(544): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGGCC AGCCGCCCCGTCCGGGATGGTGAAGGGGTGCCTCTGCCCGGCCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCCGTCCGGGAG GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGGGCCCCGCCCAGTCTG GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCCGGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCC GGGAGGGAGGTGGGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCC CGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	362	0.0028	551	c.-27 others(568): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCCACCTCCCTCCCGGGACGGGGCGGCTGGCCAGGTGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGG GCTGATCCCCCCCACCTCCCTCCCGGGACGGGGCGGCCGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCCAGACTGGGCGGGGCCCCGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCCTCCCGGACGGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCCGGGCAGAGGCACCCC TTCACCATCCCGGACGGGGCGGCTGGCCCGGGCGGGGGGCTGACCCCCAC CACCTCCCTCCCGGACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
PARP10_chr8_143972158_143991460	143981429	G G	GTGGTGAT others(544): Show GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGG TGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGT GAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTG GTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGG TGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGACAGT GAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTG ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGATGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGT GA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01515.hp1 HG00738.hp2 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0274 a0002c0002t0002g0275	2	380	0.0053	551	c.255 others(570): Show c.2556+1502_2556+1503insTCACCTTCACCACTCACTGTCGTCAC CACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACC ACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCA CCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTG TCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCAC CATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACCACC ACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCA CTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCG TCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCAT CATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATC ACCTTCACCACTCACTGTCGTCACCACCATCACCATCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(544): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGAC AGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGAT GGTGGTGATGGTGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGG TGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGAT GAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATG GTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGG TGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGAC TGTTGTAATGGTGATGGTGGTGATGGTGATGATGGTGGTGACGACAGTGA GTGGTGAAGGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCA TGGTGATGGTAATGATGATGAGTGGGGATGGTGGTGATGGTGACTGTTGT GATGGTGATGGTGGTGATGGTGATGGTGGTGGTGACGACAGTGAGTGGTG AA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0290 a0002c0002t0002g0290	1	380	0.0026	551	c.255 others(570): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATTACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATCCCCACTCATCATCATCATCACCATCACCATG ACCCTCACCACTCACTGTCATCACCACCACCATCACCATCACCACCATCA CCATCACAACAGTCACCATCACCACCATCATCCCCACTCATCATCATCAC CATCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACC TTCACCACTCACTGTCGTCACCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(544): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGAC AGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGAT GGTGGTGATGGTGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGG TGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGAT GAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATG GTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGG TGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGAC TGTTGTAATGGTGATGGTGGTGATGGTGATGATGGTGGTGACGACAGTGA GTGGTGAAGGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCA TGGTGATGGTGATGATGATGAGTGGGGATGGTGGTGATGGTGACTGTTGT GATGGTGATGGTGGTGATGGTGATGGTGGTGGTGACGACAGTGAGTGGTG AA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00642.hp2 others(29): Show HG00408.hp1 HG00558.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG03490.hp1 HG03492.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18906.hp1 NA18975.hp1 NA18977.hp2 NA19004.hp1 NA19057.hp2 NA19067.hp1 NA19074.hp2 NA19080.hp1 NA20905.hp1 NA21309.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(2): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0006c0006t0003	a0002c0002t0002g0011 a0002c0002t0002g0033 a0002c0002t0002g0220 others(26): Show a0002c0002t0002g0011 a0002c0002t0002g0033 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0265 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0281 a0002c0002t0003g0209 a0002c0002t0003g0213 a0002c0002t0004g0268 a0002c0002t0007g0273 a0006c0006t0003g0300 a0006c0006t0003g0301 a0006c0006t0003g0303	32	380	0.0842	551	c.255 others(570): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATCCCCACTCATCATCATCATCACCATCACCATG ACCCTCACCACTCACTGTCATCACCACCACCATCACCATCACCACCATCA CCATCACAACAGTCACCATCACCACCATCATCCCCACTCATCATCATCAC CATCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACC TTCACCACTCACTGTCGTCACCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(544): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGAC AGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGATGAGTGGGGAT GATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGG TGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGAT GAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATG GTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGG TGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGAC TGTTGTAATGGTGATGGTGGTGATGGTGATGATGGTGGTGACGACAGTGA GTGGTGAAGGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCA TGGTGATGGTGATGATGATGAGTGGGGATGGTGGTGATGGTGACTGTTGT GATGGTGATGGTGGTGATGGTGATGGTGGTGGTGACGACAGTGAGTGGTG AA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0193 a0004c0004t0001g0193	1	380	0.0026	551	c.255 others(570): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATCCCCACTCATCATCATCACCATCACCATCACC ATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAACAATCA CCATCACCACCACCATCACCATAATCATCCCCACTCATCATCATCATCAC CATCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACC TTCACCACTCACTGTCGTCACCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PCDH15_chr10_53797771_54806231	54332312	A A	AATATAAT others(544): Show AATATAATCTATATTATATATTATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATATAATCTATATTATATATTATTATA TATAATATAATATAATCTATATTATATATTATTATATATAATATAATATA ATCTATATTATATATTATTATATATAATATAATATAATCTATATTATATA TTATTATATATAATATAATATAATCTATATTATATATTATTATATATAAT ATAATATAATCTATATTATATATTATTATATATAATATAATATAATCTAT ATTATATATTATTATATATAATATAATATAATCTATATTATATATTATTA TATATAATATAATATAATCTATATTATATATTATTATATATAATATAATA TAATCTATATTATATATTATTATATATAATATAATATAATCTATATTATA TTATATATAATATAATATAATCTATATTATATATTATTATATATAATATA ATCTATATTATATATTATTATATATAATATAATCTATATTATATATTATT AT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0095 a0001c0001t0020g0095	1	102	0.0098	551	c.595 others(568): Show c.595-2607_595-2606insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATTATATATAATATAATATAGATTATATTATATTATA TATAATAATATATAATATAGATTATATTATATTATATATAATAATATATA ATATAGATTATATTATATTATATATAATAATATATAATATAGATTATATT ATATTATATATAATAATATATAATATAGATTATATTATATTATATATAAT AATATATAATATAGATTATATTATATTATATATAATAATATATAATATAG ATTATATTATATTATATATAATAATATATAATATAGATTATATTATATTA TATATAATAATATATAATATAGATTATATTATATTATATATAATAATATA TAATATAGATTATATTATATTATATATAATAATATATAATATAGATTATA TTATATTATATATAATAATATATAATATAGATTATATTATATTATATATA ATAATATATAATATAGATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332312	A A	AATATAAT others(544): Show AATATAATCTATATTATATATTATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATATAATCTATATTATATATTATTATA TATAATATAATATAATCTATATTATATATTATTATATATAATATAATATA ATCTATATTATATATTATTATATATAATATAATATAATCTATATTATATA TTATTATATATAATATAATATAATCTATATTATATATTATTATATATAAT ATAATATAATCTATATTATATATTATTATATATAATATAATATAATCTAT ATTATATATTATTATATATAATATAATATAATCTATATTATATATTATTA TATATAATATAATATAATCTATATTATATATTATTATATATAATATAATA TAATCTATATTATATATTATTATATATAATATAATATAATCTATATTATA TTATATATAATATAATATAATCTATATTATATATTATTATATATAATATA ATCTATATTATATATTATTATATATAATATAATCTATATTATATATTATT AT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0087 a0001c0007t0001g0087	1	94	0.0106	551	c.595 others(568): Show c.595-2607_595-2606insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATTATATATAATATAATATAGATTATATTATATTATA TATAATAATATATAATATAGATTATATTATATTATATATAATAATATATA ATATAGATTATATTATATTATATATAATAATATATAATATAGATTATATT ATATTATATATAATAATATATAATATAGATTATATTATATTATATATAAT AATATATAATATAGATTATATTATATTATATATAATAATATATAATATAG ATTATATTATATTATATATAATAATATATAATATAGATTATATTATATTA TATATAATAATATATAATATAGATTATATTATATTATATATAATAATATA TAATATAGATTATATTATATTATATATAATAATATATAATATAGATTATA TTATATTATATATAATAATATATAATATAGATTATATTATATTATATATA ATAATATATAATATAGATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PCNT_chr21_46319156_46450769	46399238	C C	CTGGGTCT others(544): Show CTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTTGGTCTCCCCGTGCA GCCTGTGGGTCTGGGTCTCTGTTCAGCCTGTGGGTCTAGGTCTCCCTGTG CAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTCTGGGTCTGGGTCTCTG TGCAGCCTGTAGGTCTACGTCTCCGTGCAGCCTGTGGGTCTAGGTCTCCC TGTGCAGCCTGTGGGTCTGGGTCTCCCTGTGCAGCCTGTGGGTCTAGGTC TCCCTGTGCAGCCTGTGGGTCTGGGTCTCTGTTCAGCCTGTGGGTCTAGG TCTCCCTGTGCAGCCTGTGAGTCTGGGTCTCCCTGTGCAGCCTGTGAGTC TAGGTCTCCCTGTGCAGCCTGTGAGTCTGGGTCTCTGTGCAGCCTGTGGG TCTAGGTCTCTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTG GCTCTAGGTCTCTCTCTGCAGCCTGTGAGTCTGGGTCTCTGTGCAGCCTG TGGGTCTGGGTCTCTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCC TG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp2 HG02970.hp1 others(1): Show HG02886.hp1 HG02922.hp2 HG02970.hp1 NA18906.hp1	a0005 a0039 a0005 a0039	a0005c0024 a0039c0068 a0005c0024 a0039c0068	a0005c0024t0001 a0039c0068t0001 a0005c0024t0001 a0039c0068t0001	a0005c0024t0001g0070 a0005c0024t0001g0071 a0005c0024t0001g0072 others(1): Show a0005c0024t0001g0070 a0005c0024t0001g0071 a0005c0024t0001g0072 a0039c0068t0001g0069	4	332	0.0121	551	c.458 others(568): Show c.4585-318_4585-317insTGGTCTCCCCGTGCAGCCTGTGGGTCTG GGTCTCTGTTCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTC TAGGTCTCCCTGTGCAGCCTCTGGGTCTGGGTCTCTGTGCAGCCTGTAGG TCTACGTCTCCGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTG GGTCTGGGTCTCCCTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCC TGTGGGTCTGGGTCTCTGTTCAGCCTGTGGGTCTAGGTCTCCCTGTGCAG CCTGTGAGTCTGGGTCTCCCTGTGCAGCCTGTGAGTCTAGGTCTCCCTGT GCAGCCTGTGAGTCTGGGTCTCTGTGCAGCCTGTGGGTCTAGGTCTCTGT GCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGCTCTAGGTCTCT CTCTGCAGCCTGTGAGTCTGGGTCTCTGTGCAGCCTGTGGGTCTGGGTCT CTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTAGGT CTCCCTGTGCAGCCTGTGGGTCT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	24/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46399238	C C	CTGGGTCT others(544): Show CTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTTGGTCTCCCCGTGCA GCCTGTGGGTCTGGGTCTCTGTTCAGCCTGTGGGTCTAGGTCTCCCTGTG CAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTAGGTCTCCC TGTGCAGCCTCTGGGTCTGGGTCTCTGTGCAGCCTGTAGGTCTACGTCTC CGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTGGGTC TCCCTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTG GGTCTCTGTTCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGAGTC TGGGTCTCCCTGTGCAGCCTGTGAGTCTGGGTCTCTGTGCAGCCTGTGGG TCTAGGTCTCTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTG GCTCTAGGTCTCTCTCTGCAGCCTGTGAGTCTGGGTCTCTGTGCAGCCTG TGGGTCTGGGTCTCTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCC TG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00735.hp2 others(21): Show HG00140.hp1 HG00597.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01167.hp2 HG01243.hp2 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 NA18522.hp2 NA18949.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0006 a0007 a0028 others(1): Show a0006 a0007 a0028 a0029	a0006c0006 a0006c0017 a0006c0027 others(3): Show a0006c0006 a0006c0017 a0006c0027 a0007c0005 a0028c0040 a0029c0039	a0006c0006t0001 a0006c0017t0001 a0006c0027t0001 others(3): Show a0006c0006t0001 a0006c0017t0001 a0006c0027t0001 a0007c0005t0001 a0028c0040t0001 a0029c0039t0001	a0006c0006t0001g0013 a0006c0006t0001g0015 a0006c0006t0001g0016 others(21): Show a0006c0006t0001g0013 a0006c0006t0001g0015 a0006c0006t0001g0016 a0006c0006t0001g0019 a0006c0006t0001g0021 a0006c0006t0001g0023 a0006c0006t0001g0081 a0006c0017t0001g0014 a0006c0017t0001g0020 a0006c0017t0001g0022 a0006c0027t0001g0017 a0006c0027t0001g0018 a0007c0005t0001g0024 a0007c0005t0001g0025 a0007c0005t0001g0026 a0007c0005t0001g0027 a0007c0005t0001g0028 a0007c0005t0001g0029 a0007c0005t0001g0030 a0007c0005t0001g0031 a0007c0005t0001g0032 a0007c0005t0001g0033 a0028c0040t0001g0012 a0029c0039t0001g0011	24	332	0.0723	551	c.458 others(568): Show c.4585-318_4585-317insTGGTCTCCCCGTGCAGCCTGTGGGTCTG GGTCTCTGTTCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTC TAGGTCTCCCTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTCTG GGTCTGGGTCTCTGTGCAGCCTGTAGGTCTACGTCTCCGTGCAGCCTGTG GGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTGGGTCTCCCTGTGCAGCC TGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTGGGTCTCTGTTCAG CCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGAGTCTGGGTCTCCCTGT GCAGCCTGTGAGTCTGGGTCTCTGTGCAGCCTGTGGGTCTAGGTCTCTGT GCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGCTCTAGGTCTCT CTCTGCAGCCTGTGAGTCTGGGTCTCTGTGCAGCCTGTGGGTCTGGGTCT CTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTAGGT CTCCCTGTGCAGCCTGTGGGTCT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	24/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKP3_chr11_389209_409908	398545	C C	TGTCACCT others(544): Show TGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCC GCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCC CTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACC CCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCT GC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	216	0.0046	551	c.106 others(568): Show c.1069-448_1069-447insTGTCACCTCCGTACCCCCGCACACACCT GCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGC ACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTC ACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACA CCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCC CGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(544): Show GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCACACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTG CA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	216	0.0046	551	c.106 others(568): Show c.1069-293_1069-292insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCACACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTGCATCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(544): Show GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTG CA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0029 a0001c0005t0001g0029	1	216	0.0046	551	c.106 others(568): Show c.1069-293_1069-292insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCAT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTGCATCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(544): Show GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTG CA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02129.hp1 HG02486.hp1 others(15): Show HG01884.hp2 HG02129.hp1 HG02486.hp1 HG03453.hp2 HG03579.hp2 NA18612.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18983.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19067.hp1 NA19079.hp1 NA19085.hp1 NA19088.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0011 a0004c0015	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0011t0001 a0004c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0043 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0004t0001g0094 a0001c0005t0001g0082 a0001c0005t0001g0083 a0001c0011t0001g0001 a0001c0011t0001g0051 a0004c0015t0001g0042	18	216	0.0833	551	c.106 others(568): Show c.1069-293_1069-292insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTGCATCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(544): Show GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTG CA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	216	0.0046	551	c.106 others(568): Show c.1069-293_1069-292insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTGCATCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(544): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAA AGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGA AGAAGGAAGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGA AGAAGGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAG AAGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAG AAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAA GAAGAAAGAAAGAAGAAAGAAGAAGAAAGAAAAAAGGAAGAGGAAGAAAA GAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAG GA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	188	0.0053	551	c.147 others(570): Show c.1473+1827_1473+1828insTCCTTCTTCTTCTTCCTTCTTCTTCT TCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCT TCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTTTCTT TCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTCCTTCTTCTTTCTTCTTCC TTCTTCCTTCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTTGTTCCTTC TTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTCCTTCTC CTTCCTTCTTCCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCT TCTTCTTCTTTCTTCTTCTTCCTTCTTCTTTCTTCCTTCTTTTTCTTCCT TCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCT TCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTCTTCTT CCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCTCCCTTCTTCTTTCTATT TCTTTCTTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PRKCZ_chr1_2045411_2190395	2106627	C C	CTTCAGCA others(544): Show CTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGC CAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTC CATGCGTGTCACCAGGCCAGGTGACTCTCAGCAAGCCCCTCCACACGTGT CACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCC ACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCTGGTGGGCG AGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCC GGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCA GGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGAC TCTCAGCAAGCCCCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAA GCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACT CT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	286	0.0035	551	c.335 others(570): Show c.335-28634_335-28633insTCAGCAGGCCCCTCTGGTGGGCGAGG ACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGT GGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGC CCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCT CAGCAAGCCCCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCC CCTCCAGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTT CAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAG GTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCAC CAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCAT GCGTGTCACCAGGCCAGGTGACTCTCAGCAAGCCCCTCCACACGTGTCAC CAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATG CGTGTCACCAGGCCAGGTGACTCTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133769	C C	CTCTTCCT others(544): Show CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCC TCTGTCCCTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCC ACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	227	0.0044	551	c.23 others(562): Show c.2337_*2338insTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCT CTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCT CTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCCCTCTGTCCCTCCCTGTCTCCACCTCCCCTCCCTCTG TCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCT CCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2057		chr19	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(544): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATA TATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATA TTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATA AATATATATTTATATATTTAATTTATAAATATATATTTATATATTTAATT TATAAATATATATTTATATATTTAATTTATAAATATATATTTATATATTT AA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0290 a0001c0001t0005g0290	1	308	0.0033	551	c.-75 others(570): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATAA ATTAAATATATAAATATATATTTATAAATTAAATATATAAATATATATTT ATAAATTAAATATATAAATATATATTTATAAATTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATATAAAT ATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATAT AAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAAT ATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACT AAATATATAAATATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(544): Show AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGG ACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACA GGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCAGG AGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAG GGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGG AG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	133	0.0075	551	c.351 others(570): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTC TCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCTGCCCTGTCCCCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGC CCTGTCCCCTCTCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(544): Show AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGG ACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACA GGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGG AGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAG GGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGG AG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0082 a0001c0001t0016g0082	1	133	0.0075	551	c.351 others(570): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTC TCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGC CCTGTCCCCTCTCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(544): Show AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGTGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACA GGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGA GAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAG GGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGG AG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0007 a0001c0001t0011g0007	1	133	0.0075	551	c.351 others(570): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTC TCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCG CCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCC CCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCT CTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC ACCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGC CCTGTCCCCTCTCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGACA others(544): Show AGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGG GACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCAGGAGGGGGACAGG GCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAG AGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGG GCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GAGAGGGGGACAGGGCAAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAG AG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0054 a0006c0009t0001g0054	1	133	0.0075	551	c.351 others(570): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTTGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGC CCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCTGCCCTGTCCC CTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCG CCCTGTCCCCTCTCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGACA others(544): Show AGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGG GCAGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGG AGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGG GCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GAGAGGGGGACAGGGCAAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAG AG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	133	0.0075	551	c.351 others(570): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTTGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCC CTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCTGCCCTGTCCCCTCTCGCCCTGTCCCC CTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTC TCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCG CCCTGTCCCCTCTCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(544): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAG TATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATA AA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03491.hp2 HG03492.hp2 others(1): Show HG00323.hp1 HG03491.hp2 HG03492.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0013 a0001c0002t0004 a0001c0002t0013	a0001c0002t0004g0026 a0001c0002t0013g0001 a0001c0002t0013g0036 a0001c0002t0004g0026 a0001c0002t0013g0001 a0001c0002t0013g0036	4	332	0.0121	551	c.632 others(568): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAG TATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATA AATACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(544): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACTGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAG TATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATA AA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0030 a0001c0002t0004g0030	1	332	0.0030	551	c.632 others(568): Show c.632+8199_632+8200insTGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAG TATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATA AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATT TATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGT ATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAA ATACAGTATTTATTTATAAATAC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SHANK1_chr19_50654255_50724802	50678865	G G	GATGGGGA others(544): Show GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGG GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGG AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT GA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0051 a0001c0003t0012g0051	1	316	0.0032	551	c.257 others(570): Show c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCA TCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTA ACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTC CCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTCA CCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACAC CCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCC CATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACC CCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCC TGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCC TCCCCACACCCTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678865	G G	GATGGGGA others(544): Show GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGG GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT GA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02896.hp2 HG02970.hp1 others(3): Show HG02145.hp1 HG02896.hp2 HG02970.hp1 HG03130.hp2 HG03225.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0013 a0001c0003 a0001c0007 a0001c0013	a0001c0003t0011 a0001c0003t0025 a0001c0003t0066 others(3): Show a0001c0003t0011 a0001c0003t0025 a0001c0003t0066 a0001c0003t0090 a0001c0007t0007 a0001c0013t0024	a0001c0003t0011g0050 a0001c0003t0025g0012 a0001c0003t0066g0043 others(3): Show a0001c0003t0011g0050 a0001c0003t0025g0012 a0001c0003t0066g0043 a0001c0003t0090g0067 a0001c0007t0007g0216 a0001c0013t0024g0122	6	316	0.0190	551	c.257 others(570): Show c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCA TCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTA ACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTC CCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTCA CCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACAC CCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCC CATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACC CCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCC TGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCC TCCCCACACCCTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC17A5_chr6_73588379_73658992	73601481	T T	TGGCCAGC others(544): Show TGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCC CGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCACCCCGTCCGGGA GGGAGGTGGGGGGCTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCACCCCGCCTGGCCAGCCACCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCGGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGCTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCACCCCG CCTGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	324	0.0031	551	c.126 others(570): Show c.1260-1041_1260-1040insGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCAGGCGGGGTGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAGCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCAG GCGGGGTGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGAGCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCC	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	9/10			chr6	TogoVar

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Search Results (Total: 10000 hits)