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
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(405): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAATATGTATTACATATATGTA ATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	412	c.70 others(423): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAATATG TATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(405): Show ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATTACGTATATGTAATACACATAT AACATATATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	412	c.70 others(423): Show c.7094_*7095insTATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATTACGTAT ATGTAATACACATATAACATATATTACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(405): Show ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATGTATTACGTATATGTAATACACATAT AACATATATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0073	1	400	0.0025	412	c.70 others(423): Show c.7094_*7095insTATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATGTATTACGTAT ATGTAATACACATATAACATATATTACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PCDH15_chr10_53797771_54806231	54332348	A A	AATATAAT others(405): Show AATATAATATAATCTATATTATATATTATTATATATAATATAATATAATC TATATTATATATTATTATATGTAATATAATATAATCTATATTATATATTA TTATATATAATATAATATAATCTATATTATATATTATTATATATAATATA ATATAATCTATATTATATATTATTATATATAATATAATATAATCTATATT ATATATTATTATATATAATATAATATAATCTATATTATATATTATTATAT ATAATATAATATAATCTATATTATATATTATTATATATAATATAATATAA TCTATATTATATATTATTATATATAATATAATCTATATTATATATTATTA TATATAATATAATCTATATTATATATTATTATATATAATATAATCTATAT TATATATTATTAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0018 a0018	a0018c0037 a0018c0037	a0018c0037t0013 a0018c0037t0013	a0018c0037t0013g0062 a0018c0037t0013g0062	1	102	0.0098	412	c.595 others(429): Show c.595-2643_595-2642insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATTATA TATAATAATATATAATATAGATTATATTATATTATATATAATAATATATA ATATAGATTATATTATATTATATATAATAATATATAATATAGATTATATT ATATTATATATAATAATATATAATATAGATTATATTATATTATATATAAT AATATATAATATAGATTATATTATATTATATATAATAATATATAATATAG ATTATATTATATTACATATAATAATATATAATATAGATTATATTATATTA TATATAATAATATATAATATAGATTATATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332348	A A	AATATAAT others(405): Show AATATAATATAATCTATATTATATATTATTATATATAATATAATATAATC TATATTATATATTATTATATGTAATATAATATAATCTATATTATATATTA TTATATATAATATAATATAATCTATATTATATATTATTATATATAATATA ATATAATCTATATTATATATTATTATATATAATATAATATAATCTATATT ATATATTATTATATATAATATAATATAATCTATATTATATATTATTATAT ATAATATAATATAATCTATATTATATATTATTATATATAATATAATATAA TCTATATTATATATTATTATATATAATATAATCTATATTATATATTATTA TATATAATATAATCTATATTATATATTATTATATATAATATAATCTATAT TATATATTATTAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0016 a0016	a0016c0043 a0016c0043	a0016c0043t0004 a0016c0043t0004	a0016c0043t0004g0058 a0016c0043t0004g0058	1	94	0.0106	412	c.595 others(429): Show c.595-2643_595-2642insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATTATA TATAATAATATATAATATAGATTATATTATATTATATATAATAATATATA ATATAGATTATATTATATTATATATAATAATATATAATATAGATTATATT ATATTATATATAATAATATATAATATAGATTATATTATATTATATATAAT AATATATAATATAGATTATATTATATTATATATAATAATATATAATATAG ATTATATTATATTACATATAATAATATATAATATAGATTATATTATATTA TATATAATAATATATAATATAGATTATATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(405): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	412	c.-26 others(423): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCSK5_chr9_75885673_76367975	76063964	C C	CCCCCCCC others(405): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGAC GGGGCGGCTGGCCGGCCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGGGGCTGGCCGGGCAG GGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0009 a0013c0032t0009	a0013c0032t0009g0127 a0013c0032t0009g0127	1	166	0.0060	412	c.633 others(429): Show c.633-3986_633-3985insCCACCTCCCTCCCGGACGGGGCGGCTGG TCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCTGGACGGGGCGGCTGGCCGGCCGGGGGGCTGACCCCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGG GGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGCCTAG others(405): Show CTGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGT GTGGCTAGCCTGGCGCCTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCT AGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0328 a0001c0008t0004g0328	1	408	0.0025	412	c.-10 others(429): Show c.-10+1015_-10+1016insCCTAGCCTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGG TGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGGCTAGCCTGGCGCCTGTGTGTGTGTGTG TGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PITPNM3_chr17_6446263_6561555	6455726	A A	AGGGGAGG others(405): Show AGGGGAGGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGGAGAGGAGG GAAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGGAGGG GGAAGAGGGGAAGGGAGGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGG GAGGGGAAGAGGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0037 a0001c0001t0060g0037	1	218	0.0046	412	c.262 others(427): Show c.2620-84_2620-83insCCCTCTTCCCCTCCCATCCCCTCTTCCCCC TTCCCTCCTCTCCCCTCCCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTT CCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCC CCTCTTCCCCCTCCCCCTCCCTTCCCCTCTTCCCCCTCCCCCTCCCTTCC CCTCTTCCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCC CTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTTCCCTCCTCTCCCCCTCCC CTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCT CCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCCTC CCCTCTTCCCCCTCCCCTCTTCCCCCCTCCCC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PRDM16_chr1_3064203_3443621	3181445	T T	TACACACG others(405): Show TACACACGGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTTA CACACGGTCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTTA CACATGCAGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACA CGCGCAGTCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTTA CACACGGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTCT TACACATGCAGTCTTACACACGGTCTTACACACGCAGTCTTACACGCGGC CTTACACACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTACACGCG GTCTTACGGTCTTACACACGCAGTCTTATGGTCTTACACACGGTCTTACA CACGCAGTCTTAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0127 a0002c0003t0004g0127	1	210	0.0048	412	c.38- others(427): Show c.38-4676_38-4675insACGGTCTTACACACGGTCTTACACAGTCTT ACACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACATGCAGTC TTACACACGGTCTTACACATGCAGTCTTACACACGGTCTTACACACGGTC TTACACAGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGGTCTT ACACACGCAGTCTTACACACGGTCTTACACACGGAGTCTTACACACGGAG TCTTACACACAGTCTTACACATGCAGTCTTACACACGGTCTTACACACGC AGTCTTACACGCGGCCTTACACACGCAGTCTTACACGCGGTCTTACACAC GCAGTCTTACACGCGGTCTTACGGTCTTACACACGCAGTCTTATGGTCTT ACACACGGTCTTACACACGCAGTCTTACACAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PXDNL_chr8_51314577_51814445	51696870	T T	TACACACA others(405): Show TACACACAGGTCCACACACATACACAGGCCCACACACATACACACACAGG TCCACGCACATCCACACACACCGGTCCACGCACATCCACACACAGGTCCA CACACATACACACACATACGTCCACACACATCCACACACACACACACACA CACAGGTCCACACACATCCACACACAGGCCCACACACATCCACACACACA GGTCCACACATATCCACACACACAGGTCCACACATATACACATACACAGT TCCACACACAACCACACACAGGTCCACACACATCCACATACAGGTCCACG CACATACACACACAGGTCCACACACATACACATACACAGTTCCACACACA TCCACACACAAGTCCACACACATCCACACGCACGTCCACGCATCCACACA CAGGTCCACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0034 a0034	a0034c0019 a0034c0019	a0034c0019t0001 a0034c0019t0001	a0034c0019t0001g0090 a0034c0019t0001g0090	1	122	0.0082	412	c.165 others(431): Show c.165-42111_165-42110insGTGTGTGGACCTGTGTGTGGATGCGT GGACGTGCGTGTGGATGTGTGTGGACTTGTGTGTGGATGTGTGTGGAACT GTGTATGTGTATGTGTGTGGACCTGTGTGTGTATGTGCGTGGACCTGTAT GTGGATGTGTGTGGACCTGTGTGTGGTTGTGTGTGGAACTGTGTATGTGT ATATGTGTGGACCTGTGTGTGTGGATATGTGTGGACCTGTGTGTGTGGAT GTGTGTGGGCCTGTGTGTGGATGTGTGTGGACCTGTGTGTGTGTGTGTGT GTGTGGATGTGTGTGGACGTATGTGTGTGTATGTGTGTGGACCTGTGTGT GGATGTGCGTGGACCGGTGTGTGTGGATGTGCGTGGACCTGTGTGTGTAT GTGTGTGGGCCTGTGTATGTGTGTGGACCTGTGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51696870	T T	TACACACA others(405): Show TACACACAGGTCCACACACATACACAGGCCCACACACATACACACACAGG TCCACGCACATCCACACACACCGGTCCACGCACATCCACACACAGGTCCA CACACATACACACACATACGTCCACACACATCCACACACACACACACACA CACAGGTCCACACACATCCACACACAGGCCCACACACATCCACACACACA GGTCCACACATATCCACACACACAGGTCCACACATATACACATACACAGT TCCACACACAACCACACACAGGTCCACACACATCCACATACAGGTCCATG CACATACACACACAGGTCCACACACATACACATACACAGTTCCACACACA TCCACACACAAGTCCACACACATCCACACGCACGTCCACGCATCCACACA CAGGTCCACACAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0002 a0002c0021t0002	a0002c0021t0002g0092 a0002c0021t0002g0092	1	122	0.0082	412	c.165 others(431): Show c.165-42111_165-42110insGTGTGTGGACCTGTGTGTGGATGCGT GGACGTGCGTGTGGATGTGTGTGGACTTGTGTGTGGATGTGTGTGGAACT GTGTATGTGTATGTGTGTGGACCTGTGTGTGTATGTGCATGGACCTGTAT GTGGATGTGTGTGGACCTGTGTGTGGTTGTGTGTGGAACTGTGTATGTGT ATATGTGTGGACCTGTGTGTGTGGATATGTGTGGACCTGTGTGTGTGGAT GTGTGTGGGCCTGTGTGTGGATGTGTGTGGACCTGTGTGTGTGTGTGTGT GTGTGGATGTGTGTGGACGTATGTGTGTGTATGTGTGTGGACCTGTGTGT GGATGTGCGTGGACCGGTGTGTGTGGATGTGCGTGGACCTGTGTGTGTAT GTGTGTGGGCCTGTGTATGTGTGTGGACCTGTGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
RAB11FIP3_chr16_420649_528011	504692	T T	TCCTCCTG others(405): Show TCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTG CACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTGTGCACCCCTCACCT CCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCC CCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTC TTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTAC CCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTTACCTC CTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCC TCACCTCTTCCTGTACCCTTCACTTCCTCCTGTACCCCCTCACCTCCTCC TGCACCCCCCTTA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0122 a0001c0001t0015g0122	1	295	0.0034	412	c.139 others(429): Show c.1396-821_1396-820insCCCCTCACCTCCTCCTGTACCCCCCTCA CCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTGTGCA CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCT TCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACC CCCTCACCTCTTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCT CCTCCTGTACCCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACC CCCTTACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCC TGTACCCCCCTCACCTCTTCCTGTACCCTTCACTTCCTCCTGTACCCCCT CACCTCCTCCTGCACCCCCCTTACCTCCTGTACC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RALGDS_chr9_133092722_133126240	133123716	G G	GCACACAC others(405): Show GCACACACAGACACACACATAGAGACAGAGACACAGACACACACACACAC AGAGACACAAAGATACACAGAGATGCACACACAGAGACACACACATAGAG AGAGAGACACAGACACACACACACACACAGACACACAAAGATACACAGAG ATGCACACAGAGACACACACATAGAGACAGAGACACAGACACACACACAG AGACACAAAGATACACAGAGATGCACACACAGAGACACACACATAGAGAC AGAGACACAGACATACACACACACACAGAGACACAAAGATACACAGAGAT GCACACACAGAGACACACAGAGAGACAGAGACACAGACACACACACACAC AGACACAAAGATACACAGAGATGCACACACAGACACACACATAGAGACAG AGACACAGACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0186 a0001c0031t0001g0186	1	424	0.0024	412	c.-25 others(423): Show c.-2563_-2562insTGTGTCTGTGTCTCTGTCTCTATGTGTGTGTCTG TGTGTGCATCTCTGTGTATCTTTGTGTCTGTGTGTGTGTGTGTCTGTGTC TCTGTCTCTCTGTGTGTCTCTGTGTGTGCATCTCTGTGTATCTTTGTGTC TCTGTGTGTGTGTGTATGTCTGTGTCTCTGTCTCTATGTGTGTGTCTCTG TGTGTGCATCTCTGTGTATCTTTGTGTCTCTGTGTGTGTGTCTGTGTCTC TGTCTCTATGTGTGTGTCTCTGTGTGCATCTCTGTGTATCTTTGTGTGTC TGTGTGTGTGTGTGTGTCTGTGTCTCTCTCTCTATGTGTGTGTCTCTGTG TGTGCATCTCTGTGTATCTTTGTGTCTCTGTGTGTGTGTGTGTCTGTGTC TCTGTCTCTATGTGTGTGTCTGTGTGTG	RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding		2477		chr9	TogoVar
RAMACL_chr6_166578009_166591678	166581999	A A	ACAGGGAG others(405): Show ACAGGGAGAGGTGAGATGGGGTGGGACGCACACTGGGCAGGTGGGCTGGG CAGGAGGGCACAGGGAGAGCTGAGATGGGGTGGGACGTCCACTGGGCAGG TGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACGCCCA CTGGGCAGGTGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTG GGACGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGTGA GATGGGGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGG GAGAGGTGAGATGGGGTGGGACGCACACTGGGCAGGTGGGCTGGGCAGAG GGCCCAGGGAGAGGTGAGATGGGGTGGGACGTCCACTGGGCAGGTGGGCT GGGCAGGAGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00639.hp1 others(81): Show HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01516.hp2 HG01517.hp2 HG01975.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02717.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp1 NA18943.hp1 NA18946.hp1 NA18950.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18985.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp2 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19012.hp1 NA19058.hp2 NA19062.hp1 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19075.hp2 NA19076.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19091.hp2 NA20752.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0001t0020 a0001c0001t0040 a0001c0001t0043 a0003c0003t0011	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0008g0000 others(5): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0008g0000 a0001c0001t0012g0000 a0001c0001t0020g0000 a0001c0001t0040g0000 a0001c0001t0043g0000 a0003c0003t0011g0000	84	442	0.1901	412	c.41 others(423): Show c.4121_*4122insGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGACG TCCCACCCCATCTCACCTCTCCCTGGGCCCTCTGCCCAGCCCACCTGCCC AGTGTGCGTCCCACCCCATCTCACCTCTCCCTGTGCCCTCCTGCCCAGCC CACCTGCCCAGTGGACGTCCCACCCCATCTCACCTCTCCCTGTGCCCTCC TGCCCAGCCCACCTGCCCAGTGGGCGTCCCACCCCATCTCACCTCTCCCT GGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCGTCCCACCCCATCTCA CCTCTCCCTGGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGACGTCCCAC CCCATCTCAGCTCTCCCTGTGCCCTCCTGCCCAGCCCACCTGCCCAGTGT GCGTCCCACCCCATCTCACCTCTCCCTG	RAMACL	ENSG00000235272.3	transcript	ENST00000444122.3	protein_coding		1009		chr6	TogoVar
RBM33_chr7_155639661_155786480	155673689	C C	CACGCATA others(405): Show CACGCATATACATACACACGTGTATATATATACACGCATATACATACACA CGTGTATATATATACACGCATATACATACACACGTGTATATATATACACG CATATACATACACACGTGTATATATATACACGCATATACATACACACGTG TATATATATACACGCATATACATACACACGTGTATATATATACACGCATA TACATACACACGTGTATATATATACACGCATATACATACACACGTGTATA TATATACACGCATATACATACACACGTGTATATATATACACGCATATACA TACACACGTGTATATATATACACGCATATACATACACACGTGTATATATA TACACGCATATACATACACACGTGTATATATATACACGCATATACATACA CACGTGTATATAT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19074.hp1 NA19067.hp1 NA19074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0009 a0001c0003t0008 a0001c0003t0009	a0001c0003t0008g0257 a0001c0003t0009g0260 a0001c0003t0008g0257 a0001c0003t0009g0260	2	306	0.0065	412	c.171 others(427): Show c.171+776_171+777insGCATATACATACACACGTGTATATATATAC ACGCATATACATACACACGTGTATATATATACACGCATATACATACACAC GTGTATATATATACACGCATATACATACACACGTGTATATATATACACGC ATATACATACACACGTGTATATATATACACGCATATACATACACACGTGT ATATATATACACGCATATACATACACACGTGTATATATATACACGCATAT ACATACACACGTGTATATATATACACGCATATACATACACACGTGTATAT ATATACACGCATATACATACACACGTGTATATATATACACGCATATACAT ACACACGTGTATATATATACACGCATATACATACACACGTGTATATATAT ACACGCATATACATACACACGTGTATATATAC	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM33_chr7_155639661_155786480	155673695	T T	TATACATA others(405): Show TATACATACACACGTGTATATATATACACGCATATACATACACACGTGTA TATATATACACGCATATACATACACACGTGTATATATATACACGCATATA CATACACACGTGTATATATATACACGCATATACATACACACGTGTATATA TATACACGCATATACATACACACGTGTATATATATACACGCATATACATA CACACGTGTATATATATACACGCATATACATACACACGTGTATATATATA CACGCATATACATACACACGTGTATATATATACACGCATATACATACACA CGTGTATATATATACACGCATATACATACACACGTGTATATATATACACG CATATACATACACACGTGTATATATATACACGCATATACATACACACGTG TATATATACACGC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0269 a0001c0003t0008g0269	1	306	0.0033	412	c.171 others(427): Show c.171+783_171+784insCATACACACGTGTATATATATACACGCATA TACATACACACGTGTATATATATACACGCATATACATACACACGTGTATA TATATACACGCATATACATACACACGTGTATATATATACACGCATATACA TACACACGTGTATATATATACACGCATATACATACACACGTGTATATATA TACACGCATATACATACACACGTGTATATATATACACGCATATACATACA CACGTGTATATATATACACGCATATACATACACACGTGTATATATATACA CGCATATACATACACACGTGTATATATATACACGCATATACATACACACG TGTATATATATACACGCATATACATACACACGTGTATATATATACACGCA TATACATACACACGTGTATATATACACGCATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(405): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAG GGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGG GAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGG GGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01069.hp1 HG01069.hp2 others(15): Show HG00280.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01255.hp2 HG01516.hp1 HG01952.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02683.hp1 HG03490.hp1 HG03490.hp2 HG03669.hp1 HG04228.hp2 HG06807.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0108 a0001c0001t0001g0131	18	318	0.0566	412	c.36 others(423): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAG GAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGA GGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGG GGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGG AGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGG GGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(405): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAG GGGAGGGGGGGAGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGG GAGGAGGGGAGGGGGAGGAGGGGAAGGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGAGG GGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	318	0.0031	412	c.36 others(423): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGGAGGGGGAGGAGGGAG GAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGA GGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGG GGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGGAGGGG GAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAG GGGACGGGGGAGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(405): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGG GGGAGAGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGA GGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAAGGGGGAGGGGGAGGAGG GGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAG GGGAGGGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	318	0.0031	412	c.36 others(423): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGAGGGGGGAGGAGGGGAGGGGGGAGGAG GGGAGGAGGGGAGGGGGGAGAGGGGGAGGGGGAGAGGGGAGGAGGGGAGG GGGAGGAGGGAAGGAGGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAAGG GGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGG GAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAG GGGACGGGGGAGGAGGGGAGGGGGGAGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RPH3AL_chr17_207389_357807	242710	T T	TTACCTTC others(405): Show TTACCTTCCTCTATTGACTACATTCCTCTATTGACTACCTTCCTCTATTG ATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTAT TGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTC TATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCT CTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCC TCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTC CTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTT CCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACC TTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0007 a0001c0015t0007	a0001c0015t0007g0026 a0001c0015t0007g0026	1	133	0.0075	412	c.613 others(429): Show c.613+4400_613+4401insGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAAT AGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCA ATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAAT CAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTA GTCAATAGAGGAATGTAGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242710	T T	TTACCTTC others(405): Show TTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG ATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTAT TGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTC TATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCT CTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCC TCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTC CTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTT CCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACC TTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0090 a0001c0002t0003g0090	1	133	0.0075	412	c.613 others(429): Show c.613+4400_613+4401insGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAAT AGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCA ATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAAT CAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTA GTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPS6KA2_chr6_166404364_166632251	166581999	A A	ACAGGGAG others(405): Show ACAGGGAGAGGTGAGATGGGGTGGGACGCACACTGGGCAGGTGGGCTGGG CAGGAGGGCACAGGGAGAGCTGAGATGGGGTGGGACGTCCACTGGGCAGG TGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACGCCCA CTGGGCAGGTGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTG GGACGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGTGA GATGGGGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGG GAGAGGTGAGATGGGGTGGGACGCACACTGGGCAGGTGGGCTGGGCAGAG GGCCCAGGGAGAGGTGAGATGGGGTGGGACGTCCACTGGGCAGGTGGGCT GGGCAGGAGGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01099.hp1 HG01123.hp2 others(36): Show HG00558.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01975.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02615.hp2 HG02717.hp1 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 NA18946.hp2 NA18950.hp1 NA18974.hp2 NA18990.hp2 NA19003.hp2 NA19009.hp1 NA19087.hp1 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0001c0020 a0001c0021 a0001c0023 a0001c0025 a0001c0028 a0001c0032 a0001c0040 a0001c0043 a0001c0047 a0001c0053 a0001c0063	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0002t0007 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0001c0006t0005 a0001c0006t0037 a0001c0007t0001 a0001c0008t0001 a0001c0008t0006 a0001c0009t0001 a0001c0011t0001 a0001c0011t0039 a0001c0012t0002 a0001c0014t0001 a0001c0020t0001 a0001c0021t0009 a0001c0023t0003 a0001c0025t0001 a0001c0028t0001 a0001c0032t0004 a0001c0040t0001 a0001c0043t0015 a0001c0047t0030 a0001c0053t0008 a0001c0063t0016	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0003g0112 others(36): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0003g0112 a0001c0001t0011g0017 a0001c0002t0002g0169 a0001c0002t0007g0138 a0001c0003t0001g0034 a0001c0003t0001g0039 a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0003t0003g0031 a0001c0004t0001g0113 a0001c0005t0001g0170 a0001c0005t0003g0084 a0001c0005t0003g0132 a0001c0006t0005g0147 a0001c0006t0037g0122 a0001c0007t0001g0115 a0001c0008t0001g0185 a0001c0008t0001g0232 a0001c0008t0006g0178 a0001c0009t0001g0177 a0001c0009t0001g0218 a0001c0009t0001g0219 a0001c0011t0001g0127 a0001c0011t0039g0215 a0001c0012t0002g0060 a0001c0014t0001g0111 a0001c0020t0001g0176 a0001c0021t0009g0096 a0001c0023t0003g0022 a0001c0025t0001g0225 a0001c0028t0001g0046 a0001c0032t0004g0032 a0001c0040t0001g0024 a0001c0043t0015g0220 a0001c0047t0030g0222 a0001c0053t0008g0126 a0001c0063t0016g0234	39	244	0.1598	412	c.100 others(431): Show c.100-43216_100-43215insGGCCCTCCTGCCCAGCCCACCTGCCC AGTGGACGTCCCACCCCATCTCACCTCTCCCTGGGCCCTCTGCCCAGCCC ACCTGCCCAGTGTGCGTCCCACCCCATCTCACCTCTCCCTGTGCCCTCCT GCCCAGCCCACCTGCCCAGTGGACGTCCCACCCCATCTCACCTCTCCCTG TGCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCGTCCCACCCCATCTCAC CTCTCCCTGGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCGTCCCACC CCATCTCACCTCTCCCTGGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGA CGTCCCACCCCATCTCAGCTCTCCCTGTGCCCTCCTGCCCAGCCCACCTG CCCAGTGTGCGTCCCACCCCATCTCACCTCTCCCTG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20			chr6	TogoVar
RTN1_chr14_59590983_59875776	59750591	T T	TATATCTA others(405): Show TATATCTATAATATATATATTATATCTATAATATATAATATATCTATAAT ATATATATTATATCTATAATATATAATATATCTATAATATATATATTATA TCTATAATATATAATATATCTATAATATATATATTATATCTATAATATAT AATATATCTATAATATATATATTATATCTATAATATATAATATATCTATA ATATATAATATATCTATAATATATATATTATATATATAATATATAATATA TTATATATATAATATATAATATATTATATATATAATATATAATATATTAT ATCTATAATATATTATATGTAATATATATATGTTATATCTATAATATATA TTATATCTATAATATATAATATATTATATCTATAATATATAATATATTAT ATCTATAAATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG03516.hp2 HG02630.hp2 HG02723.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0133 a0001c0001t0001g0169 a0001c0001t0001g0036 a0001c0001t0001g0133 a0001c0001t0001g0169	3	172	0.0174	412	c.242 others(429): Show c.242-4111_242-4110insTATATTTATAGATATAATATATTATATA TTATAGATATAATATATTATATATTATAGATATAATATATATTATAGATA TAACATATATATATTACATATAATATATTATAGATATAATATATTATATA TTATATATATAATATATTATATATTATATATATAATATATTATATATTAT ATATATAATATATATATTATAGATATATTATATATTATAGATATATTATA TATTATAGATATAATATATATATTATAGATATATTATATATTATAGATAT AATATATATATTATAGATATATTATATATTATAGATATAATATATATATT ATAGATATATTATATATTATAGATATAATATATATATTATAGATATATTA TATATTATAGATATAATATATATATTATAGATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(405): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGGAGGGGGAGGA GGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGA AGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAG AAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGA GGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGG AGAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0371 a0001c0001t0006g0371	1	396	0.0025	412	c.807 others(429): Show c.807-1376_807-1375insTCCTCCTTCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCT CCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(405): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGGAGGGGGAGGA GGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGA AGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAG AAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGA GGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGG AGAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03195.hp2 HG02109.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0006 a0001c0001t0011g0006	2	396	0.0051	412	c.807 others(429): Show c.807-1376_807-1375insTCCTCCTTCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCT CCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(405): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGGAGGGGGAGGA GGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGA AGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAG AAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGA GGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGG AGAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0364 a0001c0001t0006g0364	1	396	0.0025	412	c.807 others(429): Show c.807-1376_807-1375insTCCTCCTTCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCT CCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCT CCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(405): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCC CCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCC CCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0238 a0001c0003t0002g0238	1	376	0.0027	412	c.-58 others(419): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCGC GCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCCC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACC CCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCG CCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
SARDH_chr9_133658560_133743352	133668443	T T	TACCCTCC others(405): Show TACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTC ACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCT CACCCTCACCCTCCCTCTCCCTCACCCTCACCCTCCCTCTCCCTCACCCT CCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTCCCCTCGCCCT CCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCT CACCCTCACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCT CTCCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACC CTCCCTCTCCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACC CTCCCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19003.hp2 NA19065.hp1 NA18943.hp1 NA19003.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0004 a0001c0006t0004 a0002c0002t0004 a0001c0001t0004 a0001c0006t0004 a0002c0002t0004	a0001c0001t0004g0071 a0001c0006t0004g0212 a0002c0002t0004g0220 a0001c0001t0004g0071 a0001c0006t0004g0212 a0002c0002t0004g0220	3	262	0.0115	412	c.249 others(431): Show c.2496-1574_2496-1573insGAGGGAGGGGGAGGGTAAGGGGAGAG GGAGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGG GAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGGAGAGGGAGGGCGAGG GGAGAGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGTGAGGGAGAGGGAGG GTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGGAG AGGGAGGGTGAGGGAGAGAGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGA GGGAGGGTGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGGAGAGGGAG GGCGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGAGAG GGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGCGA others(405): Show GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGA GCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18959.hp2 NA18982.hp1 others(2): Show NA18956.hp1 NA18959.hp2 NA18982.hp1 NA18990.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0002c0009t0004 a0001c0001t0001 a0002c0009t0004	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0257 others(2): Show a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0257 a0001c0001t0001g0270 a0002c0009t0004g0237	5	370	0.0135	412	c.-30 others(431): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTC CCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC CCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SLAIN1_chr13_77692687_77769229	77704206	A A	ATACATAT others(405): Show ATACATATGTTTTATATGTATATATACATAGAAAATATATATACATGTTT TATATGTATATATATACATAGAAAATATATATACATGTTTTATATGTATA TATATACATAGAAAATATATATACATGTTTTATATGTATATATATACATA GAAAATATATATACATATGTTTTATATGTATATATATACATAGAAAATAT ATATACATATGTTTTATATGTATATATATACATAGAAAATATATATACAT ATGTTTTATATGTATATATATACATAGAAAATATATGTACATATGTTTTA TATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTATA TATATACATAGAAAATATATGTACATATGTTTTATATGTATATATATACA TAGAAAATATATG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	300	0.0033	412	c.626 others(429): Show c.626+5706_626+5707insATACATGTTTTATATGTATATATATACA TAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATAT ATATACATGTTTTATATGTATATATATACATAGAAAATATATATACATAT GTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATA TGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATATA TATACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATA GAAAATATATGTACATATGTTTTATATGTATATATATACATAGAAAATAT ATGTACATATGTTTTATATGTATATATATACATAGAAAATATATGTACAT ATGTTTTATATGTATATATACATAGAAAATATAT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC35F1_chr6_117902264_118322671	117923608	C C	CATATATG others(405): Show CATATATGTACATATGTACATATATACATATGTATATATACATATATGTA CATATGTACATATATACATATGTATATATGCATATATGTACATATGTACA TATATACATATGTATATATGCATATATGTACATATGTACATATATACATA TGTATATATGCATATATGTACATATGTACATATATACATATGTATATATG CATATATGTACATATGTACATATATACATATGTATATATGCATATATGTA CATATGTACATATATACATATGTATATATGCATATATGTACATATGTACA TATATACATATGTATATATGCATATATGTACATATGTACATATGTACATA TGTATATATACATATATGTACATATGTACATATGTATATATACATATATG TACATATGCACAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0136 a0001c0001t0034g0136	1	182	0.0055	412	c.173 others(431): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TATACATATGTATATATGCATATATGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATGTACATATGTATATATACATATATGTACATATGTACATA TGTATATATACATATATGTACATATGCACATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923608	C C	CATATATG others(405): Show CATATATGTACATATGTACATATATACATATGTATATATACATATATGTA CATATGTACATATATACATATGTATATATGCATATATGTACATATGTACA TATATACATATGTATATATGCATATATGTACATATGTACATATATACATA TGTATATATGCATATATGTACATATGTACATATATACATATGTATATATG CATATATGTACATATGTACATATATACATATGTATATATGCATATATGTA CATATGTACATATATACATATGTATATATGCATATATGTACATATGTACA TATATACATATGTATATATGCATATATGTACATATGTACATATGTACATA TGTATATATACATATATGTACATATGTACATATGTATATATACATATATG TACATATGTACAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0127 a0001c0001t0019g0127	1	182	0.0055	412	c.173 others(431): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TATACATATGTATATATGCATATATGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATGTACATATGTATATATACATATATGTACATATGTACATA TGTATATATACATATATGTACATATGTACATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(405): Show ATATGTACATATGTACATATATACATATGTATATATACATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT ATACATATGTATATATGTACATATGTACATATATACATATGTATATATGC ATATATGTACATATGTACATATATACATATGTATATATGCATATATGTAC ATATGTACATATATACATATGTATATATGCATATATGTACATATGTACAT ATGTACATATGTATATATGCATATATGTACATATGTACATATGTACATAT GTATATATGCATATATGTACATATGTACATATGTACATATGTATATATGC ATATATGTACATATGTACATATGTACATATGTATATATACATATATGTAC ATATGTACATATG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	182	0.0055	412	c.173 others(431): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGTACATATGTACA TATATACATATGTATATATGCATATATGTACATATGTACATATATACATA TGTATATATGCATATATGTACATATGTACATATATACATATGTATATATG CATATATGTACATATGTACATATGTACATATGTATATATGCATATATGTA CATATGTACATATGTACATATGTATATATGCATATATGTACATATGTACA TATGTACATATGTATATATGCATATATGTACATATGTACATATGTACATA TGTATATATACATATATGTACATATGTACATATGTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(405): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGG GGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGG GGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGG AGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGG GAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAG GGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0206 a0002c0002t0002g0206	1	260	0.0039	412	c.138 others(431): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCT CCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCC CCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTC CCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCCTCC CCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRXN1_chr20_641615_658200	642300	G G	GGCCCAGC others(405): Show GGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGTGGTGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	412	c.64 others(423): Show c.6413_*6414insGCCCCCCACCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCC ACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCC CCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACC CCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCC CCCCCAGGCAACCCCATCCCCGCTGGGC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4314		chr20	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(405): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTCT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	202	0.0050	412	c.262 others(431): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTCTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(405): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTCT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	202	0.0050	412	c.262 others(431): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTCTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC ATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUCLG2_chr3_67369719_67659612	67444510	T T	TGGGGGGG others(405): Show TGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGGGTGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCGCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	280	0.0036	412	c.106 others(433): Show c.1063-43660_1063-43659insCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGCGGGCTGAC CCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(405): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTATATAT ATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG01981.hp1 others(3): Show HG00639.hp2 HG01243.hp1 HG01981.hp1 HG02083.hp1 HG02970.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0261 a0001c0001t0005g0056 a0001c0001t0005g0105 others(3): Show a0001c0001t0002g0261 a0001c0001t0005g0056 a0001c0001t0005g0105 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0006g0183	6	392	0.0153	412	c.271 others(429): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACACGTATATATATACACGTGTATATATACACACA CGTATATATATACACGTGTATATATACACGTATATATATACACGTATATA TACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(405): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTGTGTGTATATATACGTGTATATATATACGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTATATAT ATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19070.hp1 HG03130.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0186 a0001c0001t0007g0057 a0001c0001t0002g0186 a0001c0001t0007g0057	2	392	0.0051	412	c.271 others(429): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACACGTATATATATACACGTGTATATATACACGTA TATATATACACGTATATATACACACACACGTATATATATACACGTATATA TACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(405): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGAGGGAGGGCGTGGGGGGGGAGGGAGGGCGTGGGGGGGGAGG GAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGG GAGGAGGGAGGGGGCGGTGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGG GCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	314	0.0032	412	c.309 others(431): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCACCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCCCTCCCTCCCCCCACACCCTCCCTCCCCCCCCAC GCCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCCACGCCCTCCCTCCC CCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACCC TCCCTCCCCCCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGC CGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCCT TCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCCCCCCACTGCACC CTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(405): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGAGGGAGGGCGTGGGGGGGGAGGGAGGGCGTGGGGGGGGAGG GAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGTGG GAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGG GCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp1 HG02922.hp1 others(1): Show HG01884.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 others(1): Show a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115	4	314	0.0127	412	c.309 others(431): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCACCGCCCCCTC CCTCCTCCCGCCGCCCCCTCCCTCCCCCCACACCCTCCCTCCCCCCCCAC GCCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCCACGCCCTCCCTCCC CCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACCC TCCCTCCCCCCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGC CGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCCT TCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCCCCCCACTGCACC CTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TCF3_chr19_1604292_1657615	1628327	A A	ATGAGGCG others(405): Show ATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCAC GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGTGAGGCGGGAAAGGGACAGCAGAACT CACGGGGTGAGGTGGGAAGGGGACACCAGAGCTCACAGGGGGTGATGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAAGGGACAGCAGA ACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGATG CGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0068 a0003c0008t0068	a0003c0008t0068g0268 a0003c0008t0068g0268	1	352	0.0028	412	c.299 others(427): Show c.299-902_299-901insCCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCTGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCTTTCCC GCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCTGTG AGCTCTGGTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCTTT CCCGCCTCACCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGTTCTGCTGTCCC CTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628415	C C	CAGAACTC others(405): Show CAGAACTCACGGGGTGAGGTGGGAAGGGGACACCAGAGCTCACAGGGGGT GATGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTCACAG GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGATGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGTAGAGCT CACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCG GGAAGGGGACAGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0012 a0003c0006t0012	a0003c0006t0012g0329 a0003c0006t0012g0329	1	352	0.0028	412	c.299 others(427): Show c.299-990_299-989insACTGTCCCCTTCCCGCCTCACCCCCGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTCCCCTT CCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCTGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCT TCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTC CCCTTCCCGCATCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCTGTGAGCTCTG GTGTCCCCTTCCCACCTCACCCCGTGAGTTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TECTA_chr11_121096243_121196490	121185709	G G	GAATGAGT others(405): Show GAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAG ATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAGTGCTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0296 a0001c0003t0002g0296	1	348	0.0029	412	c.600 others(431): Show c.6000-2087_6000-2086insGTAGGGAAAGCAGATGTTGAATGCTT AATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGG AAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAA TGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAG TAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATG TTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGA ATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGC AGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTT AATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1272715	A A	ACATCAGA others(405): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGC CATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	392	0.0026	412	c.228 others(429): Show c.2287-436_2287-435insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273554	C C	CCACACAT others(405): Show CCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATC AGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACA GTCACCACACATCAGACCCCCAGGACCAACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCCACAACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	392	0.0026	412	c.228 others(431): Show c.2287-1275_2287-1274insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTTGTGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTTGGTCCTGGGGGTCTGATGTGTGGTGACTGTGGATGGTGAT CGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGAC TGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273554	C C	CCACACAT others(405): Show CCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATC AGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACA GTCACCACACATCAGACCCCCGGGACCAACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCCACAACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	392	0.0026	412	c.228 others(431): Show c.2287-1275_2287-1274insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTTGTGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTTGGTCCCGGGGGTCTGATGTGTGGTGACTGTGGATGGTGAT CGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGAC TGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121747867	T T	TGGGAGGC others(405): Show TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0240 a0001c0001t0028g0240	1	314	0.0032	412	c.189 others(427): Show c.189-452_189-451insTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 10000 hits)