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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Select column to sort.

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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
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(793): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATACATAAAAATTATATATATATTATATA TACATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT AATATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTATATATATATATTATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	272	0.0037	800	c.29 others(811): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATACATAAAAATTA TATATATATTATATATACATAAAAATTATATATATATTATATATATATAA AAATTATATATATATAATATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTATATA TATATATTATATATATATAAAAATTATATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
VCX2_chrX_8164944_8176267	8169616	C C	CCACCTCT others(793): Show CCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTT CCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCAC ACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCACACCACCTCT TCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTC CCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACC ACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCAC A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0003	1	115	0.0087	800	c.41 others(809): Show c.415_*416insTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		327		chrX	TogoVar
ADARB2_chr10_1172313_1742525	1548029	C C	CTTTTTTT others(794): Show CTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTATTATACTCTA AGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACA TGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGT ATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCC CAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATT CCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATA GTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGAT ATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTG CCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCC AAGTCTTTGCTATTGAGAATAGTGCCGCAATAAACATACGTGTGCATGTG TCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGG GATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCC ACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGT AAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGA CTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGG TTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATG TG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	106	0.0094	801	c.101 others(822): Show c.101-168870_101-168869insCACATGAAGAAATGCTCATCATCA CTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCAC ACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGA GAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAA CTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGA ACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAA ATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATT GCGGCACTATTCTCAATAGCAAAGACTTGGAACCAACCCAAATGTCCAAC AATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACT ATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATG AAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAA ACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATG GACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGG AGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATT AGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCT GCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAA AAAAAAAAGAAAAAAAAAAAAAAAAAA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(794): Show TATATATATAATATATATTACATGTATATATTATATATGATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATCATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAAT ATATTATATATTCTCATATAATATATTATATATGCTCATATAATATATTA TATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATA TATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATA TGCTCATATATAATATATTATATATGCTCATATATAATATATTATATATG CTCATATAATATATTATATATGCTCATATATAATATATTATGTATGCTCA TATATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCATA TATAATATATTATGTATGAGCATATATAATATATTATGTATGAGCATATA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	416	0.0024	801	c.10 others(814): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATGAGCATATATAATATAT TATATGAGAATATATAATATATTATATGAGAATATATATTATATATGAGA ATATATAATATATATGAGAATATATATAATATGTCATATATGAGAATATA TATTATATATGAGAATATATATTATATAAATGAGAAAATATATATTATAT ATTAGAATATATACATTATATATGAGTATATATATAATATATGAGAATAT ATATAATATATGAGTATATATTATATATATGAGAATATATATTATATATG AGAATATATATATTATATATATGAGAATATATAATATATATATATGAGAA TATATATTATATATATGAGTATATATAATATATATGAGAATATATATGAT ATGTATATAATATATATAATATATAATATATAATATATAATATATAATAT ATACATATATACATATAATATATAAACATATCATATATAATATATACATG TAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(794): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAAT ATATTATATATTCTCACATAATATATTATATATGCTCATATAATATATTA TATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATA TATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATA TGCTCATATATAATATATTATATATGCTCATATATAATATATTATATATG CTCATATAATATATTATATATGCTCATATATAATATATTATGTATGCTCA TATATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCATA TATAATATATTATGTATGAGCATATATAATATATTATGTATGAGCATATA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	416	0.0024	801	c.10 others(814): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATGAGCATATATAATATAT TATGTGAGAATATATAATATATTATATGAGAATATATATTATATATGAGA ATATATAATATATATGAGAATATATATAATATGTCATATATGAGAATATA TATTATATATGAGAATATATATTATATAAATGAGAAAATATATATTATAT ATTAGAATATATACATTATATATGAGTATATATATAATATATGAGAATAT ATATAATATATGAGTATATATTATATATATGAGAATATATATTATATATG AGAATATATATATTATATATATGAGAATATATAATATATATATATGAGAA TATATATTATATATATGAGTATATATAATATATATGAGAATATATATTAT ATGTATATAATATATATAATATATAATATATAATATATAATATATAATAT ATACATATATACATATAATATATAAACATATAATATATAATATATACATG TAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(794): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAAT ATATTATATATTCTCATATAATATATTATATATGCTCATATAATATATTA TATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATA TATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATA TGAGCATATATAATATATTATATATGCTCATATATAATATATTATATATG CTCATATAATATATTATATATGCTCATATATAATATATTATGTATGCTCA TATATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCATA TATAATATATTATGTATGAGCATATATAATATATTATGTATGAGCATATA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18963.hp2 NA18975.hp1 others(1): Show NA18941.hp1 NA18963.hp2 NA18975.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0077 a0001c0001t0012 a0001c0001t0077	a0001c0001t0012g0000 a0001c0001t0077g0000 a0001c0001t0012g0000 a0001c0001t0077g0000	4	416	0.0096	801	c.10 others(814): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGCTCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATGAGCATATATAATATAT TATATGAGAATATATAATATATTATATGAGAATATATATTATATATGAGA ATATATAATATATATGAGAATATATATAATATGTCATATATGAGAATATA TATTATATATGAGAATATATATTATATAAATGAGAAAATATATATTATAT ATTAGAATATATACATTATATATGAGTATATATATAATATATGAGAATAT ATATAATATATGAGTATATATTATATATATGAGAATATATATTATATATG AGAATATATATATTATATATATGAGAATATATAATATATATATATGAGAA TATATATTATATATATGAGTATATATAATATATATGAGAATATATATTAT ATGTATATAATATATATAATATATAATATATAATATATAATATATAATAT ATACATATATACATATAATATATAAACATATAATATATAATATATACATG TAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(794): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAAT ATATTATATATTCTCATATAATATATTATATATGCTCATATAATATATTA TATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATA TATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATA TGCTCATATATAATATATTATATATGCTCATATATAATATATTATATATG CTCATATAATATATTATATATGCTCATATATAATATATTATGTATGCTCA TATATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCATA TATAATATATTATGTATGAGCATATATAATATATTATGTATGAGCATATA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02015.hp1 HG02040.hp1 others(19): Show HG01243.hp1 HG02015.hp1 HG02040.hp1 HG02080.hp1 HG02148.hp2 HG02165.hp2 NA18612.hp1 NA18944.hp2 NA18959.hp1 NA18973.hp2 NA18974.hp2 NA18990.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19063.hp2 NA19070.hp1 NA19084.hp1 NA19088.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0002 a0001c0001t0012 a0001c0001t0018 others(4): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0018 a0001c0001t0029 a0001c0001t0051 a0001c0001t0054 a0006c0011t0002	a0001c0001t0002g0000 a0001c0001t0012g0000 a0001c0001t0018g0000 others(4): Show a0001c0001t0002g0000 a0001c0001t0012g0000 a0001c0001t0018g0000 a0001c0001t0029g0000 a0001c0001t0051g0000 a0001c0001t0054g0000 a0006c0011t0002g0000	22	416	0.0529	801	c.10 others(814): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATGAGCATATATAATATAT TATATGAGAATATATAATATATTATATGAGAATATATATTATATATGAGA ATATATAATATATATGAGAATATATATAATATGTCATATATGAGAATATA TATTATATATGAGAATATATATTATATAAATGAGAAAATATATATTATAT ATTAGAATATATACATTATATATGAGTATATATATAATATATGAGAATAT ATATAATATATGAGTATATATTATATATATGAGAATATATATTATATATG AGAATATATATATTATATATATGAGAATATATAATATATATATATGAGAA TATATATTATATATATGAGTATATATAATATATATGAGAATATATATTAT ATGTATATAATATATATAATATATAATATATAATATATAATATATAATAT ATACATATATACATATAATATATAAACATATAATATATAATATATACATG TAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(794): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATCATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAAT ATATTATATATTCTCATATAATATATTATATATGCTCATATAATATATTA TATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATA TATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATA TGCTCATATATAATATATTATATATGCTCATATATAATATATTATATATG CTCATATAATATATTATATATGCTCATATATAATATATTATGTATGCTCA TATATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCATA TATAATATATTATGTATGAGCATATATAATATATTATGTATGAGCATATA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0000 a0001c0001t0012g0000	1	416	0.0024	801	c.10 others(814): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATGAGCATATATAATATAT TATATGAGAATATATAATATATTATATGAGAATATATATTATATATGAGA ATATATAATATATATGAGAATATATATAATATGTCATATATGAGAATATA TATTATATATGAGAATATATATTATATAAATGAGAAAATATATATTATAT ATTAGAATATATACATTATATATGAGTATATATATAATATATGAGAATAT ATATAATATATGAGTATATATTATATATATGAGAATATATATTATATATG AGAATATATATATTATATATATGAGAATATATAATATATATATATGAGAA TATATATTATATATATGAGTATATATAATATATATGAGAATATATATGAT ATGTATATAATATATATAATATATAATATATAATATATAATATATAATAT ATACATATATACATATAATATATAAACATATAATATATAATATATACATG TAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ARFRP1_chr20_63693647_63712976	63693699	A A	ACCTCCAC others(794): Show ACCTCCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCACCTC CACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCTCCACCA CCACCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACC TCCACCACCAACACCTCCACCTCCACCTCCACCACCACCACCACCACCTC CACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCA CCTCTACCACCACCTCCACCACCACCACCACCACCACCTCCACCTCCACC ACCTCCACCTCCACCACCTCTACCACCACCTCCACCACCACCACCTCCAC CTCCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCA CCACCACCACCACCACCACCACCACCACCACCTCCACCTCCACCACCACC ACCTCCACCACCACCACCTCCACCACCTCCACCACCACCTCCACCTCCAC CACCACCACCTCCACCTCCACCTCCACCACCACCACCACCACCTCCACTA CCACCACCTCCACCTCCACCACCACCACCTCCACCACCAACACCTCCACC TCCACCTCCACCACCACCACCACCACCTCCACCTCCACCACCACCTCCAC CACCACCACCTCCACCACCACCACCTCCACCACCTCCACCTCCACCACCA CCACCTCCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACC TCCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCAC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	296	0.0034	801	c.67 others(812): Show c.6743_*6744insAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGT GGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG AGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGAGGTGGTG GTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGAGGTGGTGGT GGTGGTGGTGGAGGTGGAGGTGGAGGTGTTGGTGGTGGAGGTGGTGGTGG TGGAGGTGGAGGTGGTGGTAGTGGAGGTGGTGGTGGTGGTGGTGGAGGTG GAGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGAGGTGGTGGA GGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTG GTGGTGGTGGAGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTAGA GGTGGTGGAGGTGGAGGTGGTGGAGGTGGAGGTGGTGGTGGTGGTGGTGG TGGAGGTGGTGGTAGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTG GAGGTGGTGGTGGAGGTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGAGGT GGAGGTGTTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGG TGGAGGTGGTGGTGGTGGTGGTGGAGGTGGAGGTGGAGGTGGTGGTGGTG GAGGTGGAGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGTGGAGGTGGT GGTGGTGGAGGTGGAGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4947		chr20	TogoVar
ARHGAP19_chr10_97217179_97297637	97251782	A A	ATGGGAAG others(794): Show ATGGGAAGGGGAAGGGAAGGGAAGGGGAAGGGGGAAGGGGAAGAGAGGGA AGGAGGGAAGGGAAGGGAAGAAGGAGGTGGGGGAAGGAGGAAGGAAGGGA AGGGGAAAGGGGAAGGGAAGAGGGAAAGGGAAGGGAAGGGAATGGGAAGG GAAGGGAAGGGAGGGAAAGGGAAGGGGCAAGGGGAAGGGGAAGGGGAAGG GAAGGGGGAAAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGG GAAGGGGAAAAGGAAGGGAAGGGGAAGGGAGAGAGGGAAGGGAAGGGGAA AGGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAG GGGAAGGGAAAAGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGG AAGGGGAAGGGAAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGAAAGGGA AAGGGAAAGGGAAGGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGG GAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGG GAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGG GAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGA GGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAA AAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGG GAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	242	0.0041	801	c.927 others(818): Show c.927+4535_927+4536insCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCCTCC CCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCGTCC TTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTTTCT TTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTCCTT TTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTCCTT TCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCCCCT TCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCCCTTTCCC TTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTC CCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTC CCTTCCCCTTCCCTTCCCTTCCCTTTCCCCTTCCCTTCCCTCTCTCCCTT CCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTT CCCCTTCCCTTCCTTTCCCCCTTCCCTTCCCCTTCCCCTTCCCCTTGCCC CTTCCCTTTCCCTCCCTTCCCTTCCCTTCCCATTCCCTTCCCTTCCCTTT CCCTCTTCCCTTCCCCTTTCCCCTTCCCTTCCTTCCTCCTTCCCCCACCT CCTTCTTCCCTTCCCTTCCCTCCTTCCCTCTCTTCCCCTTCCCCCTTCCC CTTCCCTTCCCTTCCCCTTCCCA	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGEF10_chr8_1818926_1963641	1825050	A A	ACCCGCAC others(794): Show ACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCCGCACCCCACCT GTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCT CCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCC ACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCCTGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCT CCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCAC ACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTC CC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0180 a0001c0003t0035g0180	1	363	0.0028	801	c.-48 others(816): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCCGC ACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCC ACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCC CCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCCGCACCCCA CCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGT CCTCCCCACACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACT CCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCC CCGCACCCCACCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(794): Show TTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCT CCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCC TGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCC CCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCC TCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCC TGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCC CTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCT CCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCC CCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTG CCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCC CCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCC TCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCC CTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCC CC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0048 a0001c0002t0008g0048	1	210	0.0048	801	c.273 others(818): Show c.2734+192_2734+193insCTGCCCCCTCCCCTCCTGCCCTCCTGCC CCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTC CCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCC CCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCC TTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTG CCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCT CCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCC TCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGC CCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCT CCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCT TCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCC CTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCC CTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCT GCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCT CATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCC TGCCCCCCTCCCCTCCTGCCCTC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB5_chr4_176208673_176274222	176218955	A A	AATATATA others(794): Show AATATATATTTGTATGATATATAAATATATATATTTGTATGATATATATA TTTGTATGATATATAAATATATATATTTGTATGATATATAAATATATATG TATGATATATAAATATATATTTGTATGATATATAAATATATATATTTGTA TGATATATAAATATATATATATTTGTATGATATATAAATATATATATTTG TATGATATATATATTTGTATGATATATAAATATATATATTTTTATGATAT ATATATTTGTATGATATATAAATATATATATTTGTATGATATATATATTT GTATGATATATAAATATATATATTTGTATGATATATAAATATATATGTAT GATATATAAATATATATTTGTATGATATATAAATATATATATTTGTATGA TATATAAATATATATATATTTGTATGATATATAAATATATATATTTGTAT GATATATATATTTGTATGATATATAAATATATATATTTGTATGATATATA TATATTTGTATGATATATAAATATATATGTATGATATATAAATATATATT TGTATGATATATAAATATATATATTTGTATGATATATAAATATATATATT TGTATGATATATAAATATATATATTTGTATGATATATAAATATATATATT TGTATGATATATAAATATATATATTTGTATGATATATAAATATATATATT TGTATGATATATAAATATATATATTTGTATGATATATAAATATATATGTA TGATATATAAATATATATTTGTATGATATATAAATATATATATTTGTATG AT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0192 a0001c0005t0001g0192	1	410	0.0024	801	c.671 others(818): Show c.671-1947_671-1946insATCATACAAATATATATATTTATATATC ATACAAATATATATTTATATATCATACATATATATTTATATATCATACAA ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAA ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAA ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAA ATATATATATTTATATATCATACAAATATATATTTATATATCATACATAT ATATTTATATATCATACAAATATATATATATCATACAAATATATATATTT ATATATCATACAAATATATATATCATACAAATATATATATTTATATATCA TACAAATATATATATATTTATATATCATACAAATATATATATTTATATAT CATACAAATATATATTTATATATCATACATATATATTTATATATCATACA AATATATATATTTATATATCATACAAATATATATATCATACAAATATATA TATTTATATATCATACAAATATATATATCATAAAAATATATATATTTATA TATCATACAAATATATATATCATACAAATATATATATTTATATATCATAC AAATATATATATATTTATATATCATACAAATATATATATTTATATATCAT ACAAATATATATTTATATATCATACATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATCATACAAATATATATAT TTATATATCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
AVEN_chr15_33861227_34044204	33894705	C C	CAGGCTGA others(794): Show CAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTC AGCTGAGATCGCGACACTGCACTCCAGTCCAGGTGACAGAGTGAGACTCC GTCTCCAAAAAAAAAAAAAAAGAAAAAAAAAATCATCAAGTCTGTCAAAT GCAGTTTTCCCCTATGGGTGGCTCTTCAAGATTCACACTTTAACATAACG CTAAGGTTTGGGTATATTTTATTCTTGACATATATTCCTAAAATTGGAAT TACTGGGTACAGGAATAAAATTTAGTTTGAAACTATTTGTTATGTTACTC TATAGATCTGCTGAAACATAGATCCAACGTGCAAATTCCATTCATAACAT TCTCATCCACTTTTACACAAATGTGTGTTAAATGCCTACTATGTGTCAGA TTAGAAGCTAGTGATACAGAATGTTATCCAAAGTCCCTGCTCTCATGGAA TTACTACTACTTAAATGTCTACTAAAGGGAGAAAAAAATTTAAATGAATC ACCTAGTTCCTGAAAGCCCTATCAATAACTTTTGTATTTACATACACAAT TGTATTAAAAGTGTTATTATTTATTAAGTATATTAAGAAGTACAAGCCCT TCTACTTATTAAAATAATAGAATGTGGCCGGGCTTGGTGGCTCACACGTG TAATCCCAGCACTTTGGGAGCCTAAGGCGGGCGGAACACAAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGTGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01081.hp2 others(14): Show HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01346.hp1 HG02258.hp1 HG02280.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG06807.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0003c0003t0003 a0004c0004t0001 a0001c0001t0001 a0003c0003t0003 a0004c0004t0001	a0001c0001t0001g0031 a0001c0001t0001g0128 a0001c0001t0001g0131 others(14): Show a0001c0001t0001g0031 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0259 a0003c0003t0003g0003 a0004c0004t0001g0020	17	266	0.0639	801	c.446 others(820): Show c.446-18711_446-18710insCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTGCACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGTTCCGCCCGC CTTAGGCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACCAAGCCCGGC CACATTCTATTATTTTAATAAGTAGAAGGGCTTGTACTTCTTAATATACT TAATAAATAATAACACTTTTAATACAATTGTGTATGTAAATACAAAAGTT ATTGATAGGGCTTTCAGGAACTAGGTGATTCATTTAAATTTTTTTCTCCC TTTAGTAGACATTTAAGTAGTAGTAATTCCATGAGAGCAGGGACTTTGGA TAACATTCTGTATCACTAGCTTCTAATCTGACACATAGTAGGCATTTAAC ACACATTTGTGTAAAAGTGGATGAGAATGTTATGAATGGAATTTGCACGT TGGATCTATGTTTCAGCAGATCTATAGAGTAACATAACAAATAGTTTCAA ACTAAATTTTATTCCTGTACCCAGTAATTCCAATTTTAGGAATATATGTC AAGAATAAAATATACCCAAACCTTAGCGTTATGTTAAAGTGTGAATCTTG AAGAGCCACCCATAGGGGAAAACTGCATTTGACAGACTTGATGATTTTTT TTTTCTTTTTTTTTTTTTTTGGAGACGGAGTCTCACTCTGTCACCTGGAC TGGAGTGCAGTGTCGCGATCTCAGCTGACTGCAACCTCCGCCTCCCAGGT TCAAGCAATTCTCCTGCCTCAGCCT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33894705	C C	CAGGCTGA others(794): Show CAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTC AGCTGAGATCGCGACACTGCACTCCAGTCCAGGTGACAGAGTGAGACTCC GTCTCCAAAAAAAAAAAAAAAGAAAAAAAAAATCATCAAGTCTGTCAAAT GCAGTTTTCCCCTATGGGTGGCTCTTCAAGATTCACACTTTAACATAACG CTAAGGTTTGGGTATATTTTATTCTTGACATATATTCCTAAAATTGGAAT TACTGGGTACAGGAATAAAATTTAGTTTGAAACTATTTGTTATGTTACTC TATAGATCTGCTGAAACATAGATCCAACGTGCAAATTCCATTCATAACAT TCTCATCCACTTTTACACAAATGTGTGTTAAATGCCTACTATGTGTCAGA TTAGAAGCTAGTGATACAGAATGTTATCCAAAGTCCCTGCTCTCATGGAA TTACTACTACTTAAATGTCTACTAAAGGGAGAAGAAAATTTAAATGAATC ACCTAGTTCCTGAAAGCCCTATCAATAACTTTTGTATTTACATACACAAT TGTATTAAAAGTGTTATTATTTATTAAGTATATTAAGAAGTACAAGCCCT TCTACTTATTAAAATAATAGAATGTGGCCGGGCTTGGTGGCTCACACGTG TAATCCCAGCACTTTGGGAGCCTAAGGCGGGCGGAACACAAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGTGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp1 HG02896.hp2 others(4): Show HG01109.hp2 HG02622.hp1 HG02896.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0134 a0001c0001t0001g0212 a0001c0001t0005g0122 others(4): Show a0001c0001t0001g0134 a0001c0001t0001g0212 a0001c0001t0005g0122 a0001c0001t0005g0146 a0001c0001t0005g0194 a0001c0001t0005g0217 a0001c0001t0005g0218	7	266	0.0263	801	c.446 others(820): Show c.446-18711_446-18710insCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTGCACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGTTCCGCCCGC CTTAGGCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACCAAGCCCGGC CACATTCTATTATTTTAATAAGTAGAAGGGCTTGTACTTCTTAATATACT TAATAAATAATAACACTTTTAATACAATTGTGTATGTAAATACAAAAGTT ATTGATAGGGCTTTCAGGAACTAGGTGATTCATTTAAATTTTCTTCTCCC TTTAGTAGACATTTAAGTAGTAGTAATTCCATGAGAGCAGGGACTTTGGA TAACATTCTGTATCACTAGCTTCTAATCTGACACATAGTAGGCATTTAAC ACACATTTGTGTAAAAGTGGATGAGAATGTTATGAATGGAATTTGCACGT TGGATCTATGTTTCAGCAGATCTATAGAGTAACATAACAAATAGTTTCAA ACTAAATTTTATTCCTGTACCCAGTAATTCCAATTTTAGGAATATATGTC AAGAATAAAATATACCCAAACCTTAGCGTTATGTTAAAGTGTGAATCTTG AAGAGCCACCCATAGGGGAAAACTGCATTTGACAGACTTGATGATTTTTT TTTTCTTTTTTTTTTTTTTTGGAGACGGAGTCTCACTCTGTCACCTGGAC TGGAGTGCAGTGTCGCGATCTCAGCTGACTGCAACCTCCGCCTCCCAGGT TCAAGCAATTCTCCTGCCTCAGCCT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33894705	C C	CAGGCTGA others(794): Show CAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTC AGCTGAGATCGCGACACTGCACTCCAGTCCGGGTGACAGAGCGAGACTCC GTCTCCAAAAAAAAAAAAAAAGAAAAAAAAAATCATCAAGTCTGTCAAAT GCAGTTTTCCCCTATGGGTGGCTCTTCAAGATTCACACTTTAACATAACG CTAAGGTTTGGGTATATTTTATTCTTGACATATATTCCTAAAATTGGAAT TACTGGGTACAGGAATAAAATTTAGTTTGAAACTATTTGTTATGTTACTC TATAGATCTGCTGAAACATAGATCCAACGTGCAAATTCCATTCATAACAT TCTCATCCACTTTTACACAAATGTGTGTTAAATGCCTACTATGTGTCAGA TTAGAAGCTAGTGATACAGAATGTTATCCAAAGTCCCTGCTCTCATGGAA TTACTACTACTTAAATGTCTACTAAAGGGAGAAGAAAATTTAAATGAATC ACCTAGTTCCTGAAAGCCCTATCAATAACTTTTGTATTTACATACACAAT TGTATTAAAAGTGTTATTATTTATTAAGTATATTAAGAAGTACAAGCCCT TCTACTTATTAAAATAATAGAATGTGGCCGGGCTTGGTGGCTCACACGTG TAATCCCAGCACTTTGGGAGCCTAAGGCGGGCGGAACACAAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGTGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02622.hp2 others(12): Show HG01884.hp1 HG02486.hp2 HG02622.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG03130.hp1 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp2 NA19240.hp1	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0009	a0001c0001 a0004c0004 a0007c0005 others(1): Show a0001c0001 a0004c0004 a0007c0005 a0009c0010	a0001c0001t0001 a0001c0001t0004 a0004c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0004c0004t0001 a0007c0005t0007 a0009c0010t0001	a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0050 others(12): Show a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0095 a0001c0001t0001g0157 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0004g0205 a0004c0004t0001g0016 a0007c0005t0007g0266 a0009c0010t0001g0022	15	266	0.0564	801	c.446 others(820): Show c.446-18711_446-18710insCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTGCACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGTTCCGCCCGC CTTAGGCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACCAAGCCCGGC CACATTCTATTATTTTAATAAGTAGAAGGGCTTGTACTTCTTAATATACT TAATAAATAATAACACTTTTAATACAATTGTGTATGTAAATACAAAAGTT ATTGATAGGGCTTTCAGGAACTAGGTGATTCATTTAAATTTTCTTCTCCC TTTAGTAGACATTTAAGTAGTAGTAATTCCATGAGAGCAGGGACTTTGGA TAACATTCTGTATCACTAGCTTCTAATCTGACACATAGTAGGCATTTAAC ACACATTTGTGTAAAAGTGGATGAGAATGTTATGAATGGAATTTGCACGT TGGATCTATGTTTCAGCAGATCTATAGAGTAACATAACAAATAGTTTCAA ACTAAATTTTATTCCTGTACCCAGTAATTCCAATTTTAGGAATATATGTC AAGAATAAAATATACCCAAACCTTAGCGTTATGTTAAAGTGTGAATCTTG AAGAGCCACCCATAGGGGAAAACTGCATTTGACAGACTTGATGATTTTTT TTTTCTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTCACCCGGAC TGGAGTGCAGTGTCGCGATCTCAGCTGACTGCAACCTCCGCCTCCCAGGT TCAAGCAATTCTCCTGCCTCAGCCT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(794): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGG GGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGA AGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGG AGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGA GGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGG GGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGG GAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGA AGGGGCAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAG GGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGA AG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	300	0.0033	801	c.-70 others(810): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAA GGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAG GAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGA GGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAA GTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C2CD4C_chr19_400445_414147	404897	G G	GGGGGGAA others(794): Show GGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGGG GGGGGGACAGGGTCCTGCCCTGAGGGGTGTGGGGGGATGGGGTCCTGTCC TGAGGGGTGTGAGGGGGAGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGG GACGGGGTCCTGCCCCGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCCG AGGGGTGTGGGGGAGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAA CGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGAGGG GTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGAACGGGG TCCTGCCCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGT GTGGGGGGGAACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGAAACGGGGT CCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGAGGGGTGTGG GGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCC TGAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGAC GGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCCTGAGGG GTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAACGGG GTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGT GT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0101 a0001c0001t0127g0101	1	322	0.0031	801	c.21 others(812): Show c.2198_*2199insACACCCCTCAGGGCAGGACCCCATCCCCCCTCCA CACCCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAGGGCAGGAC CCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTACCCCCTCAGAC CCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAAGGCAGGACCCCG TCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCACACCCCTCAG GGCAGGACCCCGTCCCCCCCACACCCCTCAAGGCAGGACCCCGTCCCCCC CACACCCCTCAGGGCAGGACCCCGTTTCCCCCCCACACCCCTCAAGGCAG GACCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCTCC ACACCCCTCAGGGCAGGACCCCGTTCCCCCCTCACACCCCTCAGGGCAGG ACCCCGTCCCCCCCACACCCCTCAAGGCAGGACCCCGTCCCCCCCACACC CCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCG TCCCTCCCCCACACCCCTCGGGGCAGGACCCCGTCCCCCCCCCACACCCC TCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCGTC TCCCCCTCACACCCCTCAGGACAGGACCCCATCCCCCCACACCCCTCAGG GCAGGACCCTGTCCCCCCCCCACACCCCTCGGGACAGGACCCCGTCCCCC CCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCTCCACACCCCTCAGGG CAGGACCCCGTTCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		547		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(794): Show GTCCTGGGGGTCTGTCCACCGTCACTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGT CCACCGTCTCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGC TGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCC TGGGGGTCTGTCCACTGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCC ACCACCCCTGCTGGGCCCGAGCCGGGAGGAGGATCCTGGGGGTCTGTCCA CCGCCCCTGCTGGGCCCGAGCCGGGAGGAGGATCCTGGGGGTCTGTCCAC CGTCTCTGCTGGGCACGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGG CCCGGATCCTGGGGGTCTGTCCACCACCCCTGCTGGGCCCGGATCCTGGG GATCTGTCCACCGTCCCTGCTGGGCCTGGATCCTGGGGATCTGTCCACCG CCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCACCCCTGCTGGGCC CGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGG TCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCC CCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCCCTGCTGGGCACG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0172 a0001c0001t0077g0172	1	322	0.0031	801	c.-17 others(812): Show c.-1799_-1798insTCCGTGCCCAGCAGGGACGGTGGACAGATCCCCA GGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCA GCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGG ACAGACCCCCAGGATCCGGGCCCAGCAGGGGTGGTGGACAGACCCCCAGG ATCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCAGGCCCAGC AGGGACGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGTGGTGGAC AGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGAT CCGTGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCTCCTCCCGGCT CGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCTCCTCCCGGCTC GGGCCCAGCAGGGGTGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GCAGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGAT CCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGG GCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGATCC CCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGC CCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGTGACGG TGGACAGACCCCCAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
CAPN11_chr6_44153820_44189401	44181824	C C	CCACACTC others(794): Show CCACACTCACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACACACACACACTCACATACAGACACAACCACACCACACAC ACACACACACACATACAGACACAACCACACCACACACACACATACACACT CACATACAGACAACCACACCACACTCACACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACATACACACTCACATACA GACACAACCACACCACACACACACACACATACAGACACAACCACACCACA CACACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACGCTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACCACACACACACACACTCACA TACAGACACAACCACACCACACTCACACACACACACACTCACATACAGAC ACAACCACACCACACACACACACACTCACATACAGACACAACCACACCAC ACTCACACATACACACATACAGACACAACCACACCACACTCACACACACA CACACATACAGACACAACCACACCACACTCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACAGACACAACCACACCAC ACACACACACACACTCACATACAGACACAACCACACCACACACACACACA CACAGACACAACCACACCACACACACACACCCAACCACACCACACTCACA CA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0257 a0003c0003t0003g0257	1	460	0.0022	801	c.193 others(818): Show c.1938+509_1938+510insTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACACACACACACTCACATACAGACA CAACCACACCACACACACACACACACACATACAGACACAACCACACCACA CACACACATACACACTCACATACAGACAACCACACCACACTCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACACACACACACATACAG ACACAACCACACCACACACACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACACACGCTCACATACAGACACAACCACAC CACACTCACACACACACACTCACATACAGACACAACCACACCACACCACA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACACTCACATACAGACACAACCACACCACACACACACACACTCACATACA GACACAACCACACCACACTCACACATACACACATACAGACACAACCACAC CACACTCACACACACACACACATACAGACACAACCACACCACACTCACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACA GACACAACCACACCACACACACACACACACTCACATACAGACACAACCAC ACCACACACACACACACACAGACACAACCACACCACACACACACACCCAA CCACACCACACTCACACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDH4_chr20_61247261_61945617	61823304	G G	GGTGATGA others(794): Show GGTGATGATGGTAGTGGTAGTGATGATGGTGATGATGGTGATGATAGTGT TGATGGTGGTGATGGTGTTGATGGTAATGGTGATGTGATGATGGTGTTGA TGGTAATGGTGATGGTGGTGATGGTGTTGATGGTAATGGTGATGGTGGTG ATGATCATGGTGATGATGGTAGTGGTAGTGATGGTGGTGATGATGGTGAT GATAGTGTTGATGGTGGTGATGGTGTTGATGGTAATGGTGATGGTGATGA TGGTGTTGAAAGTAATGGTGATGGTGGTGATGGTGTTGATGGTAATGGTG ATGGTGGTGATGATCATGGTGATGATGGTAGTGGTAGTGATGGTGGTGAT GATAGTGTTGGTGGTGGTGATGGTGTTGATGGTAATGGTGATGGTGATGA TGGTGTTGAAAGTAATGGTGATGGTGTTGATGGTAATGGTGATGGTGGTG ATGATCATGGTGATGATGGTAGTGGTAGTGATGGTGGTGATGATGGTGAT GATAGTGTTGATGGTGGTGATGGTGTTGATGGTAATGGTGATGGTGATGA TGGTGTTGATAGTAATGGTGATGGTGGTGATGATCATGGTGATGATGGTA GTGGTAGTGATGGTGGTGATGATGGTGATGATAGTGGTGATGGTGTTGAT GGTAATGGTGATGGTGATGATGGTGTTGATGGTAATGGTGATGGTGGTGA TGATCATAGTGATGATGATGGTAGTGGTGGTGATGGTGGTGATGACGATA GTGGTGATGCTGATAGTGGTGATAAGTGTGTGATGGTGATGAAGACGGTG GT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0096 a0002c0002t0005g0096	1	106	0.0094	801	c.577 others(820): Show c.577-21363_577-21362insTGATGATGGTAGTGGTAGTGATGATG GTGATGATGGTGATGATAGTGTTGATGGTGGTGATGGTGTTGATGGTAAT GGTGATGTGATGATGGTGTTGATGGTAATGGTGATGGTGGTGATGGTGTT GATGGTAATGGTGATGGTGGTGATGATCATGGTGATGATGGTAGTGGTAG TGATGGTGGTGATGATGGTGATGATAGTGTTGATGGTGGTGATGGTGTTG ATGGTAATGGTGATGGTGATGATGGTGTTGAAAGTAATGGTGATGGTGGT GATGGTGTTGATGGTAATGGTGATGGTGGTGATGATCATGGTGATGATGG TAGTGGTAGTGATGGTGGTGATGATAGTGTTGGTGGTGGTGATGGTGTTG ATGGTAATGGTGATGGTGATGATGGTGTTGAAAGTAATGGTGATGGTGTT GATGGTAATGGTGATGGTGGTGATGATCATGGTGATGATGGTAGTGGTAG TGATGGTGGTGATGATGGTGATGATAGTGTTGATGGTGGTGATGGTGTTG ATGGTAATGGTGATGGTGATGATGGTGTTGATAGTAATGGTGATGGTGGT GATGATCATGGTGATGATGGTAGTGGTAGTGATGGTGGTGATGATGGTGA TGATAGTGGTGATGGTGTTGATGGTAATGGTGATGGTGATGATGGTGTTG ATGGTAATGGTGATGGTGGTGATGATCATAGTGATGATGATGGTAGTGGT GGTGATGGTGGTGATGACGATAGTGGTGATGCTGATAGTGGTGATAAGTG TGTGATGGTGATGAAGACGGTGGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(794): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATTTTTTTTTTTTTTTT TTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTG GA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0111 a0004c0005t0005g0111	1	336	0.0030	801	c.248 others(818): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCT GTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(794): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGGAGGGAGGAAGGGG CGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAATA AATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTAT AATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTTA ACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGTG AAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGAA GGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAATATCCTAGAGGCA GAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGTG AGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTCA TAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACGT TAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCTA TAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTG GA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0024 a0002c0003t0007g0024	1	336	0.0030	801	c.248 others(818): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATTTTTTTTTT TTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCT GTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(794): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGGAGGGAGGAAGGGG CGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAATA AATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTAT AATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTTA ACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGTG AAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGAA GGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAATATCCTAGAGGCA GAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGTG AGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTCA TAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACGT TAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCTA TAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTG GA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01106.hp1 others(3): Show HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01258.hp2 HG02040.hp1 HG02683.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0049 a0002c0003t0003g0109 a0002c0003t0003g0144 others(3): Show a0002c0003t0003g0049 a0002c0003t0003g0109 a0002c0003t0003g0144 a0002c0003t0003g0145 a0002c0003t0003g0146 a0002c0003t0003g0147	6	336	0.0179	801	c.248 others(818): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCT GTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(794): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	204	0.0049	801	c.223 others(822): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTCCAGATTTATGGTTTTTATTACATAAGGTAAAAA TATTACAGATACGGAAAAATTAATTCATTCAACAATAATTCAATTTACAG AATTACAGATTATGTTTCCAGTTTACTGCCTATTATAGTCTGGAATACAG TATTTGATGCTACCAGTCTTTGGCATCTTGTAACATTCTGTCAATTAATT GGCCAAATAATGCTAGGTCTCCATTTTAACCTGATTATCTGGAATTAATA TTTCTCCATATTTTCACTAATGACTTTCAAACTAGTTGACTGATTTTTGC CTAAAGAAAATCACGATACTTCTTTAGTTTTACTTTTTGTTTGTAACTTA AAAAGGGAAGGACAATTGTCACATTTTAAAGAATGTAATAAAATGTCATA CCTGACGTAGCAAATTGTATTTTTCAAAAATAACTACAACAATATATCCC ATCCCACATGCTCTTCCAAAACTTTGCCACTCACCCTCAAGAGGTGGGGG TTATGTCCCTTCCCCTTAATTTGTGTGTCATTAGACTGACACACGTGATA GACAACACTGTATAACTTCCAAGCCTGGGTCTTAAGAGGCAATACGGTCC TTGAGTCACTTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGAAGCCTGG GCTACATGAAGAGACCCACATGGAGAGGAATGAAGTTCCTATCTCTCAAT CCAGGCTGAGCTCCCAGCCAATAACCAGTGCCTGTGAGTGATCCCTCTTG GAGAGGGGTCGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP46_chr10_132803392_132947570	132888439	C C	CCCGCCAC others(794): Show CCCGCCACCTTCACCCCTGCCACCTGCACCCCTGCCGCCTTCACCCCTGC CGCCTGTACCCCTGCCACCTGCACCCCTGCCGCCTGCACCCCTGCCGCCT TCACCCCTGCCGCCTGTACCCCTGCCGCCTTCACCCCTGCTGCCTGCACC CCGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCTGCCAC CTTCACCCCTGCCGCCTGCACCCCTGCCGCCTTCACCCCTGCCACCTGCA CCCCTGCCGCCTGCACCCCTGCCGCCTTCACCCCTGCCGCCTTCACCCCT GCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCGCCT TCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCC TGCCGCCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTTCACCCCTGCCG CCTGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTTCAC CCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCC GCCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCA CCCCTGCCGCCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGC CGCCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCCCTGCCGCCT GCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTG CCACCTTCACCCCTGCCGCCTGTACCTGCCACCTTCACCCCTGCCGCCTG TA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0130 a0010c0011t0001g0130	1	246	0.0041	801	c.330 others(820): Show c.3305-2481_3305-2480insTACAGGCGGCAGGGGTGAAGGTGGCA GGTACAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAG GTGGCAGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGCAGGCGGCAG GGGTGAAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGTGCA GGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGG CAGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAGGGGT GAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGCG GCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGG TGAAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAG GTGGCAGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAG GGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAA GGCGGCAGGGGTGCAGGCGGCAGGGGTGCAGGTGGCAGGGGTGAAGGCGG CAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGT GAAGGCGGCAGGGGTGAAGGTGGCGGGGTGCAGGCAGCAGGGGTGAAGGC GGCAGGGGTACAGGCGGCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAG GGGTGCAGGTGGCAGGGGTACAGGCGGCAGGGGTGAAGGCGGCAGGGGTG CAGGTGGCAGGGGTGAAGGTGGCGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(794): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGTGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGGGGAGGGGGAGGG GAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGAGGGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGGGGAGGGGAGGGGGGGGAGGGGGAGGGGGGAGGGG AGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAGGGGAAGGGGAAGGGGA AGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGG GAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAG GGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGA GG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0113 a0001c0001t0006g0113	1	216	0.0046	801	c.923 others(820): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCTC CCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCC CCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCC TCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTTCATTC CTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DOCK1_chr10_126900428_127457516	126948184	A A	ATGGTGGT others(794): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGGT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGAT GG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0014 a0003c0003t0003g0014	1	136	0.0074	801	c.47- others(818): Show c.47-22511_47-22510insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTA CTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGATGGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	400827	T T	TCACCACC others(794): Show TCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACC ATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCAC CTCCACCACCACCACCATCACCTCCACCATCACCACCACCTCCACCATCA CCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCTCCACC TCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCAC CACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCTTC ACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCAC CACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCA CCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC TCCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAC CACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCTCCTCCA TCACCACCACCATCTTCACCATCACCACCACCTCCACCATCACCACCACC TCCACCACCACCACCACCTCCACCATCACCACCACCACCACCACCACCAC TTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCA CCACCACCTCCACCACCACCACCACCTCCACCACCACCGTCACCACCTTC TC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0011 a0011	a0011c0154 a0011c0154	a0011c0154t0001 a0011c0154t0001	a0011c0154t0001g0067 a0011c0154t0001g0067	1	256	0.0039	801	c.323 others(820): Show c.3234+1573_3234+1574insCCACCACCTCCACCATCACCACCTCC TTCACCATCACCATCACCATCACCACCACCTCCACCATCACCACCACCAC CTCCACCATCACCACCACCTCCACCACCACCACCATCACCTCCACCATCA CCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCTCCACCTCCACCATCACCACCACCTCCACCACCACCAC CACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCA TCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCC ACCACCACCACCTCCTTCACCATCACCACCTCCTTCACCATCACCATCAC CACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCA CCACCACCAGCATCTTCACCACCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCACCTCCACTATCACCACCACCTCCA CCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCACCACCACC TCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCAC CACCACCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCACCA TCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACC ACCACCGTCACCACCTTCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EML1_chr14_99788413_99947060	99928098	G G	GAGGTGGT others(794): Show GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGGGGTGGTGGTGGGGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00639.hp1 HG00642.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0002 a0003c0002t0001g0002	2	288	0.0069	801	c.190 others(820): Show c.1909+7221_1909+7222insAGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGT GATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGGGGTGGTGGTGGGGGTGGTGGTGAT GGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EXD3_chr9_137301896_137428162	137355619	A A	ACGGAGGA others(794): Show ACGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGG AAGGAGGAAGGAGGAAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAG GAGGAAGGAGGACGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGGAGATGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGACGGAGGAAGGA GGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG AAAGGGAGGAAGGAGAAAGGAGGGAAGGAGGAAGGAGGACGGAGGAAGGA GGACGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG AAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGA AGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGAAGGA GGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	82	0.0122	801	c.757 others(816): Show c.757+648_757+649insCCTCCTTCCTCCTTCCTCCTTCCTCCTTCC TCCCTTCCTCCTTCCTCCTTCCTCCTTCTCCTTCCTCCTTCCTCCCTTTC TCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCC TCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCC ATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCC TTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCC TTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCGTCCTCCTTCCTCCTTCC CTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCTTTC TCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTTC TCCTTCCTCCATCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCT CCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCT CCTTCCTCCGTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCT CCTTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCCTTCCTCCG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
F2_chr11_46714213_46744506	46721218	A A	ATTTTTAG others(794): Show ATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAAC TCCTGACCTCGTGATCCACCCACCTCGGCCTCAAAGTGCTGGGATTATAG AAGTGAGCCACCGCGCCTGGCCATGAATTCATGTTTAAGGCTTCATTCTC CTTTGCCTGACCCGAGTCTCTGCCCCCACCTAGTCAGAGCTTTGATGATG TCACATTCCCCTTCTAGCTTTAGGTGTCACTGAACCAAACAGGAACCCAA ACCCCCAGCTGCTCTGACACCAAGGACTTCCCTAAGCATGCCAAGGTGTT TCTAGCACCTGGCCTTGCATATGTTGTCAATTTCCTCTGGAGCGACCATC ACATCTACTGAACACTTTCCTATCCTTCAAGGACTGCTTCAAATGTCACC ACTTTTGCTGAGACTTCAGGGAGCACCCTCCCTCCTGCACTGTGTTCTGA AGGCACCTTTAGCACGACAAAAATGGAACCCTTTGTTTATTTATAAGAGA CAGGGTCTCCCTTTTTTGCCCAGGCTGATCTTGAACTCCTGGGCTCAGGC AATTCTCCCATCTCAGTCTCCCAAAGGAGTAGGATTATAAGTGTGAGCCA CCATGCCTGGCTGCCATACTTTCATTTTTTTTTTTTTTTTTTTGAGGTGG AGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGCAGCGCGATCTCGGCTCG CTGCAACCTCCGCCTAGCGGATTCAAGTGATTCTCCTGCCTTAGCCTCCT GAGTAGCTGGGATTACAGGCACACACTACCATGCCCAGCTAATTTTTTGT AT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00597.hp2 others(66): Show HG00280.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01192.hp1 HG01891.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02080.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG03017.hp1 HG03704.hp1 HG03942.hp2 HG04199.hp1 NA18747.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18979.hp1 NA18987.hp1 NA18989.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp2 NA19011.hp1 NA19055.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19090.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0010 a0002c0002 a0004c0010	a0002c0002t0001 a0004c0010t0001 a0002c0002t0001 a0004c0010t0001	a0002c0002t0001g0002 a0002c0002t0001g0017 a0002c0002t0001g0018 others(43): Show a0002c0002t0001g0002 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0027 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0182 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0231 a0004c0010t0001g0018	69	350	0.1971	801	c.316 others(816): Show c.316+856_316+857insCCTTTGTTTATTTATAAGAGACAGGGTCTC CCTTTTTTGCCCAGGCTGATCTTGAACTCCTGGGCTCAGGCAATTCTCCC ATCTCAGTCTCCCAAAGGAGTAGGATTATAAGTGTGAGCCACCATGCCTG GCTGCCATACTTTCATTTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCACT CTGTCGCCTAGGCTGGAGTGCAGCAGCGCGATCTCGGCTCGCTGCAACCT CCGCCTAGCGGATTCAAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTG GGATTACAGGCACACACTACCATGCCCAGCTAATTTTTTGTATTTTTTAG TAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACC TCGTGATCCACCCACCTCGGCCTCAAAGTGCTGGGATTATAGAAGTGAGC CACCGCGCCTGGCCATGAATTCATGTTTAAGGCTTCATTCTCCTTTGCCT GACCCGAGTCTCTGCCCCCACCTAGTCAGAGCTTTGATGATGTCACATTC CCCTTCTAGCTTTAGGTGTCACTGAACCAAACAGGAACCCAAACCCCCAG CTGCTCTGACACCAAGGACTTCCCTAAGCATGCCAAGGTGTTTCTAGCAC CTGGCCTTGCATATGTTGTCAATTTCCTCTGGAGCGACCATCACATCTAC TGAACACTTTCCTATCCTTCAAGGACTGCTTCAAATGTCACCACTTTTGC TGAGACTTCAGGGAGCACCCTCCCTCCTGCACTGTGTTCTGAAGGCACCT TTAGCACGACAAAAATGGAAC	F2	ENSG00000180210.15	transcript	ENST00000311907.10	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
F2_chr11_46714213_46744506	46721294	G G	GGCCTCAA others(794): Show GGCCTCAAAGTGCTGGGATTATAGAAGTGAGCCACCGCGCCTGGCCATGA ATTCATGTTTAAGGCTTCATTCTCCTTTGCCTGACCCGAGTCTCTGCCCC CACCTAGTCAGAGCTTTGATGATGTCACATTCCCCTTCTAGCTTTAGGTG TCACTGAACCAAACAGGAACCCAAACCCCCAGCTGCTCTGACACCAAGGA CTTCCCTAAGCATGCCAAGGTGTTTCTAGCACCTGGCCTTGCATATGTTG TCAATTTCCTCTGGAGCGACCATCACATCTACTGAACACTTTCCTATCCT TCAAGGACTGCTTCAAATGTCACCACTTTTGCTGAGACTTCAGGGAGCAC CCTCCCTCCTGCACTGTGTTCTGAAGGCACCTTTAGCACGACAAAAATGG AACCCTTTGTTTATTTATAAGAGACAGGGTCTCCCTTTTTTGCCCAGGCT GATCTTGAACTCCTGGGCTCAGGCAATTCTCCCATCTCAGTCTCCCAAAG GAGTAGGATTATAAGTGTGAGCCACCATGCCTGGCTGCCATACTTTCATT TTTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCTAGGCTGGA GTGCAGCAGCGCGATCTCGGCTCGCTGCAACCTCCGCCTAGCGGATTCAA GTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCACACAC TACCATGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCAC CATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCT CA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	350	0.0029	801	c.316 others(816): Show c.316+856_316+857insCCTTTGTTTATTTATAAGAGACAGGGTCTC CCTTTTTTGCCCAGGCTGATCTTGAACTCCTGGGCTCAGGCAATTCTCCC ATCTCAGTCTCCCAAAGGAGTAGGATTATAAGTGTGAGCCACCATGCCTG GCTGCCATACTTTCATTTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCACT CTGTCGCCTAGGCTGGAGTGCAGCAGCGCGATCTCGGCTCGCTGCAACCT CCGCCTAGCGGATTCAAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTG GGATTACAGGCACACACTACCATGCCCAGCTAATTTTTTGTATTTTTTAG TAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACC TCGTGATCCACCCACCTCAGCCTCAAAGTGCTGGGATTATAGAAGTGAGC CACCGCGCCTGGCCATGAATTCATGTTTAAGGCTTCATTCTCCTTTGCCT GACCCGAGTCTCTGCCCCCACCTAGTCAGAGCTTTGATGATGTCACATTC CCCTTCTAGCTTTAGGTGTCACTGAACCAAACAGGAACCCAAACCCCCAG CTGCTCTGACACCAAGGACTTCCCTAAGCATGCCAAGGTGTTTCTAGCAC CTGGCCTTGCATATGTTGTCAATTTCCTCTGGAGCGACCATCACATCTAC TGAACACTTTCCTATCCTTCAAGGACTGCTTCAAATGTCACCACTTTTGC TGAGACTTCAGGGAGCACCCTCCCTCCTGCACTGTGTTCTGAAGGCACCT TTAGCACGACAAAAATGGAAC	F2	ENSG00000180210.15	transcript	ENST00000311907.10	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(794): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCTGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAATTGATGCAAAAC ATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGTAT TCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTATA CCACAACCTCGTGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAACAG AAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATAAT GTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGGTT TCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCATG AATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAACTTCAG AACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATATAT ATATATATATATATATATATATATATATATATATATGTCTATTTCCTGAG AATTGTTGGAAAGAAGAATTGTTTCAAAATCAATGTGAAATAGAATTTTC CATTACTTTTCTTGCCTCTGAACTGGGTTTTGGATAAATCAGTTTTATTA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	374	0.0027	801	c.-51 others(812): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CTGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAG AAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAATAA GGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTG CTATGGCACTGTATACCACAACCTCGTGTGATGGGTATTGTCATTTCTTT TTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAA CAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTC AGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAAT GTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGT GGTATCAAACTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTATA TATATATATATATATATATATATATATATATATATATATATATATATATA TGTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTTTCAAAATCAATG TGAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAACTGGGTTTTGGAT AAATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(794): Show TTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCT CCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCC TGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCC CCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCC TCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCC TGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCC CTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCT CCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCC CCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTG CCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCC CCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCC TCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCC CTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCC CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0235 a0001c0001t0011g0235	1	276	0.0036	801	c.65 others(812): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGGCAG GAGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAG GGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCA GGAGGGGAGGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGG GGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGG GCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGA GGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGA GGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGG CAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCA GGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGA GGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGC AGGAGGGCAGGAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
LHFPL3_chr7_104323603_104913561	104824253	A A	ATTATATA others(794): Show ATTATATATTATATATTATATATATAATATATATTATATATTATATATTA TATATATAATATATATATTATATATTATATATTATATATATAATATATAT ATTATATATTATATATATAATATATATATTATATATTATATATTATATAT AATATATATATTATATATTATATATTATATATATAATATATATATTATAT ATTATATAATATATATATTATATATTATATATATTATATTATATATTATA TATATAATATATTATATTATATATATTATATAATATATTATATATTATAT ATATATTATATAATATATTATATATAATTATATATATTTTATATATTATA TATTATATATTATATATTATATATTATATATTATATTATATATAATTATA TATATTTTATATATTATATATTATATATTATATATTATATATATTATATA TTATATATTATATATTATATATTATATATTATATATACAATTATATATAT TATATATATTATATATTATATATATTATATTATATAATATATTATATATA TAATATATATTATATATTATATATTATATAATATATTATATATATAATAT ATATTATATATTATATATTATATAATATATTATATATATAATATATATTA TATATTATATATTATATAATATGTTATATATATAATATATATTATATATT ATATATTATATAATATATTATATATATAATATATATTATATAATATATAT TATATATATATTATATATATAATATATATTATATAATATATATTATATAA AT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	86	0.0116	801	c.683 others(820): Show c.683-81934_683-81933insTTATATATTATATATTATATATATAA TATATATTATATATTATATATTATATATATAATATATATATTATATATTA TATATTATATATATAATATATATATTATATATTATATATATAATATATAT ATTATATATTATATATTATATATAATATATATATTATATATTATATATTA TATATATAATATATATATTATATATTATATAATATATATATTATATATTA TATATATTATATTATATATTATATATATAATATATTATATTATATATATT ATATAATATATTATATATTATATATATATTATATAATATATTATATATAA TTATATATATTTTATATATTATATATTATATATTATATATTATATATTAT ATATTATATTATATATAATTATATATATTTTATATATTATATATTATATA TTATATATTATATATATTATATATTATATATTATATATTATATATTATAT ATTATATATACAATTATATATATTATATATATTATATATTATATATATTA TATTATATAATATATTATATATATAATATATATTATATATTATATATTAT ATAATATATTATATATATAATATATATTATATATTATATATTATATAATA TATTATATATATAATATATATTATATATTATATATTATATAATATGTTAT ATATATAATATATATTATATATTATATATTATATAATATATTATATATAT AATATATATTATATAATATATATTATATATATATTATATATATAATATAT ATTATATAATATATATTATATAAAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(794): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTACATACCGGGCCACTTACTTACTTACTACATACCCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACCTACTACATACCCGGGCCACTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0057 a0002c0003t0057	a0002c0003t0057g0082 a0002c0003t0057g0082	1	296	0.0034	801	c.368 others(818): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGT AGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGG GTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCC CGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGG CCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCAC others(794): Show CCACCCACACTCACACCCACCCACACTCACACCCACCCACACTTACACTC ATGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACGCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCAC CCTTACATCTACCTCCACACCCACAATTACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACAATTACACCCACGCTTACATCTAC CTCCACACTCGCACTTACACCCACACTTACATCTACCTCCACACCCACAC TTACACCCACCCACACTTACACCCACGCTTACATCTACCACACCCACACT TACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACA CTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCA CAATTACACCCACGCTTACATCTACCTCCACACTCGCACTTACACCCACA CTTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACCTC CA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	290	0.0035	801	c.129 others(818): Show c.1290-937_1290-936insCACACCCACCCACACTCACACCCACCCA CACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACC CACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCA CCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACC CACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAATTACA CCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTCA CACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACT TACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTCACACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCA CACTTACACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACG CTTACATCTACCTCCACACTCGCACTTACACCCACACTTACATCTACCTC CACACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACC ACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACAATTACACCCACGCTTACATCTACCTCCACACTCGCAC TTACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACGCTT ACATCTACCTCCACACCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GGAGAGGG others(794): Show GGAGAGGGGGGAGAGGGGGAGGGGGGAGGGGGGAGAGGGGGAGAGGGGGG AGGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGA GGGGGAGAGGGGGGGAGGGGGAGGGGGGGAGAGGGGGAGAGGGGGGGAGG GGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAG GGGGGAGAGAGGGGGGGAGGGGGGAGGGGGGGAGGGGGGAGGGGGGGAGG GGGGAGGGGGGGAGGGGGGAGGGGGGAGGGGGAGAGAGGGGGGAGGGGGG AGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGAG AGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAG GGGGGAGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAG GGGGGAGAGAGGGGGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAGAGAGG GGGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAGAGAGGGGGGAGGGGGGA GAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGG GGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGG AGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGG AGAGAGGGGGAGAGAGGGGGAGAGAGGGGGGAGAGAGGGGGAGAGAGGGG GA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	163	0.0061	801	c.525 others(818): Show c.525+8360_525+8361insTCCCCCTCTCTCCCCCTCTCTCCCCCCT CTCTCCCCCTCTCTCCCCCTCTCTCCCCCCTCCCCCCTCCCCCCTCCCCC CTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCC CCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCC CTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCT CTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTCCCCCCT CTCCCCCTCTCTCCCCCCTCTCCCCCTCTCTCCCCCCTCTCCCCCTCTCT CCCCCCTCTCCCCCTCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCCCTCCC CCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCTCTCTCCCCCTCC CCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCCCT CCCCCCTCCCCCCCTCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCC TCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCTCTCCCCC CCTCCCCCTCCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTC TCCCCCTCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCC CCCCTCCCCCTCTCCCCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MICAL3_chr22_17782649_18029561	17877086	G G	GTTAGGGA others(794): Show GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAG GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGT TAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTT ATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGA GGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAG GTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAAGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTT AGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGA GC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0017 a0008c0011t0017	a0008c0011t0017g0172 a0008c0011t0017g0172	1	274	0.0037	801	c.224 others(820): Show c.2242-5064_2242-5063insGCTCCCTAACCTCCCTAACCTCCCTA ACCTCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAGCTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGCTCCCTAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC CTCACCTCCATAATCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAAC CTCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAGCTCCC TAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACC TCCCTAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCT AACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATA ACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAAC CTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCC TAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACC TCCCTAACCTCCATAACCTCCCTAA	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877198	G G	GGGAGGTT others(794): Show GGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGG GAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGT TAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTT AGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGA GGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGT TATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTT AT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03540.hp1 HG02886.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0130 a0002c0005t0005g0131 a0002c0005t0005g0130 a0002c0005t0005g0131	2	274	0.0073	801	c.224 others(820): Show c.2242-5176_2242-5175insATAACCTCCCTAACCTCCATAACCTC CATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCC CTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCC TCACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACC TCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCT AACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTAACCTCCATAACCTCCATAACCTCCATAACCTCCCTCACCTCCATA ATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTC CCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAAC CTCCCTCACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCC TAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AGGGAGGA others(794): Show AGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGA GGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGTAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAGAGAGAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGG GAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAA AGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGGAGGAGAGAGAGAGAAAGGG AG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	250	0.0040	801	c.225 others(818): Show c.225-2393_225-2392insGGAGGAGAGAGAGGGAAAGAGAGAGAGA AGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGGAGAGAGAAAGGGAGGAGAGA GAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGAAAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGTAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGA TAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAG GGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAG AGAGATAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG GAGGAGAGAGAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(794): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCTCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCCCTACCCC TGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT CC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	394	0.0025	801	c.-8+ others(814): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(794): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCTCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCCCTACCCC TGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT CC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	394	0.0025	801	c.-8+ others(814): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGA GAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(794): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCCCTACCCC TGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT CC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01515.hp2 NA20300.hp2 HG01496.hp1 HG01515.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133	3	394	0.0076	801	c.-8+ others(814): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGAGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGA GAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
NOS3_chr7_150986017_151019588	150995787	A A	ACCCACCC others(794): Show ACCCACCCCTGCACCCCTCCTCCCTCTCCCCCGTCCCACCCCTGCATCCC TCCTCCCTCTGCTCCCATCCCACCCCTGCACCCCTCCTCCCTCTCCCCCG TCCCATCCCTGCACCCCTCCTCCCTCTGCTCCCATCCCACCCCTGCACCC CTCCTCCCTCTCCCCCGTCCCACCCCTGCATCCCTCCTCCCTCTGCCCCG ACCCACCCCTGCACCCCTCCTCCCTCTCCCCCGTCCCATCCCTGCACCCC TCCTCCCTCTGCTCCCATCCCACCCCTGCACCCCTCCTCCCTCTCCCCCG TCCCACCCCTGCATCCCTCCTCCCTCTGCTCCCATCCCACCCCTGCACCC CTCCTCCCTCTCCCCCGTCCCATCCCTGCACCCCTCCTCCCTCTGCTCCC ATCCCACCCCTGCACCCCTCCTCCCTCTCCCCCGTCCCACCCCTGCATCC CTCCTCCCTCTGCCCCGACCCACCCCTGCACCCCTCCTCCCTCTCCCCCG TCCCATCCCTGCACCCCTCCTCCCTCTGCTCCCATCCCACCCCTGCACCC CTCCTCCCTCTCCCCCGTCCCACCCCTGCATCCCTCCTCCCTCTGCTCCC ATCCCACCCCTGCACCCCTCCTCCCTCTCCCCCGTCCCATCCCTGCACCC CTCCTCCCTCTGCTCCCATCCCACCCCTGCACCCCTCCTCCCTCTCCCCC GTCCCACCCCTGCATCCCTCCTCCCTCTGCCCCGACCCACCCCTGCACCC CTCCTCCCTCTCCCCCGTCCCATCCCTGCACCCCTCCTCCCTCTGCTCCC AT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 NA18522.hp1 HG02258.hp1 HG02280.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229	3	382	0.0079	801	c.270 others(816): Show c.270+534_270+535insTCCCATCCCACCCCTGCACCCCTCCTCCCT CTCCCCCGTCCCATCCCTGCACCCCTCCTCCCTCTGCTCCCATCCCACCC CTGCACCCCTCCTCCCTCTCCCCCGTCCCACCCCTGCATCCCTCCTCCCT CTGCCCCGACCCACCCCTGCACCCCTCCTCCCTCTCCCCCGTCCCATCCC TGCACCCCTCCTCCCTCTGCTCCCATCCCACCCCTGCACCCCTCCTCCCT CTCCCCCGTCCCACCCCTGCATCCCTCCTCCCTCTGCTCCCATCCCACCC CTGCACCCCTCCTCCCTCTCCCCCGTCCCATCCCTGCACCCCTCCTCCCT CTGCTCCCATCCCACCCCTGCACCCCTCCTCCCTCTCCCCCGTCCCACCC CTGCATCCCTCCTCCCTCTGCCCCGACCCACCCCTGCACCCCTCCTCCCT CTCCCCCGTCCCATCCCTGCACCCCTCCTCCCTCTGCTCCCATCCCACCC CTGCACCCCTCCTCCCTCTCCCCCGTCCCACCCCTGCATCCCTCCTCCCT CTGCTCCCATCCCACCCCTGCACCCCTCCTCCCTCTCCCCCGTCCCATCC CTGCACCCCTCCTCCCTCTGCTCCCATCCCACCCCTGCACCCCTCCTCCC TCTCCCCCGTCCCACCCCTGCATCCCTCCTCCCTCTGCCCCGACCCACCC CTGCACCCCTCCTCCCTCTCCCCCGTCCCATCCCTGCACCCCTCCTCCCT CTGCTCCCATCCCACCCCTGCACCCCTCCTCCCTCTCCCCCGTCCCACCC CTGCATCCCTCCTCCCTCTGC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
PAK2_chr3_196734857_196837647	196811213	T T	TTCCTTCC others(794): Show TTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACC CTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCT TCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCT CCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTC CCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCC CTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCC TCCCCTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCC CC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0122 a0001c0001t0009g0122	1	178	0.0056	801	c.773 others(816): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTC CCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCC CTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCC TTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTT CCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCC TTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCC TCCCTTCCCTCCCTCCCCTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(794): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCTCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCCCTACCCC TGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT CC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	801	c.15 others(812): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCA GGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(794): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCCCTACCCC TGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01515.hp2 HG01496.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	376	0.0053	801	c.15 others(812): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGAGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGG GTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(794): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGT GGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTG ACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGG CCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	252	0.0040	801	c.139 others(820): Show c.139-18614_139-18613insGGGGGGCTGACCCCCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG TGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCT GACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG GCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCAGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 7053 hits)