Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SEPTIN9_chr17_77314518_77505593	77485004	G G	GGGTGATG others(555): Show GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGAT GGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATT GTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTG TGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGT GATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGAT TGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGG TGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTG TGGTGGTAGTGGT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	158	0.0063	562	c.860 others(579): Show c.860-2410_860-2409insATTGTGATGGTGGTGAAGGGGGTGATGG TGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTG AAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGAT TGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGG TGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGAT GGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGG GTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGT GGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGT GATGGTGATTGTGGTGGTAGTGGTGGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHOX_chrX_625791_656584	626115	G G	GTCTCTCT others(555): Show GTCTCTCTCTCTCCTCTCTCTCTCTCTGTCTCTGTCTGTATCTCTATCTC TGTCTCTCTTTCTCTCTGTCTTTGTTCCTCTCTCTCTTTTTCTCTTTCTC TGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGT CTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTCT CCTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGTCTCTCTCTCTCCTCTCT CTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTGTATCTCTGTC TCTGTCTCTCTTTCTCTCCTCTCTCTCTTTTTCTCTGTCTCTGTATCTCT GTCTATCTCTGTCTCTCTTTCTCTCTCTCATCTCTCTCTGTCTCTTTTTC TCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTCTCCTCTCTTT TTCTCTGTCTCTGTCTGTCTCTGTCTCTCTCTCTCCTCTCTCTGTATCTC TGTCTCTGTCTCTCTTTCTCTCCTCTCTTTTTCTCTGTCTCTGTATCTCT GTCTATCTCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0181 a0001c0001t0181	a0001c0001t0181g0120 a0001c0001t0181g0120	1	220	0.0046	562	c.-47 others(573): Show c.-4783_-4782insTCTCTCTCTCTCCTCTCTCTCTCTCTGTCTCTGT CTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTTGTTCCTCTCTCT CTTTTTCTCTTTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCT CTCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTC TGTCTCTCTTTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGTCT CTCTCTCTCCTCTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCT CTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTCTTTTTCTC TGTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCATCTCT CTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCT TTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGTCTCTCTCTCTC CTCTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTTTTTCTC TGTCTCTGTATCTCTGTCTATCTCTGTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4675		chrX	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(555): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATATTATATATTGTATATATAATATATATATTGTATATATTATA TATTGTATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18964.hp2 HG02738.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0032 a0001c0001t0001g0047	2	156	0.0128	562	c.176 others(579): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATATATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATATATTATA TATACAATATATAATATATACAATATATATATTATATATACAATATATAA TATATACAATATATATATTATATATACAATATATAATATATACAATATAT AATATATACTATATATATTATATACAATATATAATATATACTATATATAT TATATACAATATATAATATATACTATATATATTATATATACAATATAAAA TATATATAATATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SPNS3_chr17_4428940_4493204	4462390	C C	CACCAATC others(555): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACACCCACCAGTCCATCCACCCACCAATCCATCCATTCATC CATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATCCA TCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCATC CACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATCCA TCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAATC TATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATCCA TCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAATC CATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACCCA CCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCATC CACCAGTCTATCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0123 a0001c0003t0001g0123	1	362	0.0028	562	c.111 others(581): Show c.1113+9186_1113+9187insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACACCCACCAGTCCATCCA CCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCACC AATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATCCA CCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCATC CACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCTA CCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCATC CATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATCCA TCCATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCATC CATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACCCA CCCACCCACCCACCCATCCATCCACCAGTCTATCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462394	C C	CACCAATC others(555): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACACCCACCAGTCCATCCACCCACCAATCCATCCATTCATC CATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATCCA TCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCATC CACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATCCA TCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAATC TATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATCCA TCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAATC CATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACCCA CCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCATC CACCAGTCTATCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0008 a0001c0009t0001g0008	1	362	0.0028	562	c.111 others(581): Show c.1113+9190_1113+9191insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACACCCACCAGTCCATCCA CCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCACC AATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATCCA CCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCATC CACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCTA CCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCATC CATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATCCA TCCATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCATC CATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACCCA CCCACCCACCCACCCATCCATCCACCAGTCTATCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(555): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAGAGAGA TGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGG AGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAG AGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGGGAGAG AGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02647.hp1 NA18747.hp1 others(1): Show HG00408.hp1 HG02647.hp1 NA18747.hp1 NA18939.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0001c0046 a0001c0127 others(1): Show a0001c0006 a0001c0046 a0001c0127 a0003c0026	a0001c0006t0001 a0001c0046t0001 a0001c0127t0004 others(1): Show a0001c0006t0001 a0001c0046t0001 a0001c0127t0004 a0003c0026t0001	a0001c0006t0001g0108 a0001c0046t0001g0177 a0001c0127t0004g0011 others(1): Show a0001c0006t0001g0108 a0001c0046t0001g0177 a0001c0127t0004g0011 a0003c0026t0001g0091	4	256	0.0156	562	c.22 others(573): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG AGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAG GGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGG AGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGG GAGAGGGAGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGG GAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGG GGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAG AGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGG GGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGA GAGAGAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(555): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAGAGAGA TGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGG AGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAG AGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGGGAGAG AGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03516.hp2 HG03540.hp1 HG03130.hp1 HG03516.hp2 HG03540.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0098 a0006c0099 a0001c0002 a0006c0098 a0006c0099	a0001c0002t0001 a0006c0098t0001 a0006c0099t0004 a0001c0002t0001 a0006c0098t0001 a0006c0099t0004	a0001c0002t0001g0138 a0006c0098t0001g0004 a0006c0099t0004g0013 a0001c0002t0001g0138 a0006c0098t0001g0004 a0006c0099t0004g0013	3	256	0.0117	562	c.22 others(573): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG AGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAG GGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGG AGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGG GAGAGGGAGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGG GAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGG GGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAG AGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGG GGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGA GAGAGAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
TAFA5_chr22_48484553_48756932	48736362	C C	CCCAGAGT others(555): Show CCCAGAGTCCAGAGCCCATCCCCCCAGGAGGAATGAGAATCACACTCCTA GAGTCCATCCCCCCCAGGAGGAATGAGAATCACGCTCCCAGAGTCCAGAG TCCATCCCCCCCAGGAGGAATGAGAATCGCACTCCCAGAGTCCAGAGCCC ATCCCCCCAGGAGGAATGAGAATCACACTCCTAGAGTCCATCCCCCCCAG GAGGAATGAGCCCATCCCCCCAGGAGGAATGAGAATCACACTCCTAGAGT CCATCCCCCCCAGGAGGAATGAGAATCACGCTCCCAGAGTCCAGAGTCCA TCCCCCAAGGAGGAATGAGAATTGCACTCCTGGAGTCCAGAGTCCATCCC CCAAGGAGGAATGAGAATTGCACTCCTGGAGTCCAGAGTCCATCCCCCCA GGAGGAATGAGAATCACACTCCTGGAGTCCATCCCGCCGAGGAGGAATGA GAATCACACTCCCAGAGTCCACAGAGTCTATCCCCCCAGGAGGAATGAGA ATCGCACTCCTAGAGTCCAGAGTCCATCCCCCCCAGGAGGAATGAGAATC ACACTCCTGGAGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0029 a0001c0001t0017g0029	1	258	0.0039	562	c.391 others(581): Show c.391-13476_391-13475insCAGAGTCCAGAGCCCATCCCCCCAGG AGGAATGAGAATCACACTCCTAGAGTCCATCCCCCCCAGGAGGAATGAGA ATCACGCTCCCAGAGTCCAGAGTCCATCCCCCCCAGGAGGAATGAGAATC GCACTCCCAGAGTCCAGAGCCCATCCCCCCAGGAGGAATGAGAATCACAC TCCTAGAGTCCATCCCCCCCAGGAGGAATGAGCCCATCCCCCCAGGAGGA ATGAGAATCACACTCCTAGAGTCCATCCCCCCCAGGAGGAATGAGAATCA CGCTCCCAGAGTCCAGAGTCCATCCCCCAAGGAGGAATGAGAATTGCACT CCTGGAGTCCAGAGTCCATCCCCCAAGGAGGAATGAGAATTGCACTCCTG GAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCACACTCCTGGAGT CCATCCCGCCGAGGAGGAATGAGAATCACACTCCCAGAGTCCACAGAGTC TATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTCCAGAGTCCATC CCCCCCAGGAGGAATGAGAATCACACTCCTGGAGTC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(555): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0171 a0001c0001t0005g0171	1	256	0.0039	562	c.924 others(579): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA CAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACAGA GAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM120B_chr12_121707752_121787068	121747572	C C	CTGGGGTA others(555): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGTCTGGGGTA GAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGA GTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTA GAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGA GTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTA GAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGA GTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0300 a0001c0001t0003g0300	1	314	0.0032	562	c.189 others(577): Show c.189-754_189-753insTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAG AAGGTGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(555): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA AGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGA GGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAG GAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGG GAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGG AGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGA GGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAA GGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAAGGAGGAA GGAAGGAGGGAGGGAGGAAGGAAGGAAGAAGGAAGGAAGGAGGAAGGAAG GAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAGCGAGG GAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0168 a0001c0001t0008g0168	1	268	0.0037	562	c.30+ others(579): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGG AGGGAGGGAGGGAGGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGG AGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAA GGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAG GGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGG AAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGG AGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGA AGGGAAGGAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGAAGGAAGGA AGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAA AAGAAGAGCGAGGGAGGGAGGGAGGGAGGAAGGA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TTLL8_chr22_50013575_50063298	50029244	C C	CCTCGTAA others(555): Show CCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACC CCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACA CCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACACACCCTCG TAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGAC CCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCATC ACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAA GACCCCACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0091 a0003c0003t0001g0091	1	224	0.0045	562	c.225 others(581): Show c.2251+1185_2251+1186insTGTGTGTGGGGTCTTCAGGATGGTGT GATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTT ACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGG TGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGG GGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGT GGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029267	A A	ATCCTGAA others(555): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCC ATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACAC CGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCATCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTC GTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGA CCCCATCACACCG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18947.hp1 NA18947.hp2 others(9): Show HG02132.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp2 NA18980.hp1 NA19000.hp1 NA19062.hp1 NA19070.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0008 a0001c0001 a0003c0003 a0008c0008	a0001c0001t0001 a0003c0003t0001 a0008c0008t0001 a0001c0001t0001 a0003c0003t0001 a0008c0008t0001	a0001c0001t0001g0156 a0003c0003t0001g0005 a0003c0003t0001g0078 others(8): Show a0001c0001t0001g0156 a0003c0003t0001g0005 a0003c0003t0001g0078 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0097 a0003c0003t0001g0120 a0008c0008t0001g0164 a0008c0008t0001g0165 a0008c0008t0001g0184	12	224	0.0536	562	c.225 others(581): Show c.2251+1162_2251+1163insCGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTC TTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA CGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTG ATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029267	A A	ATCCTGAA others(555): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCC ATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACAC CGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCATCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTC GTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGA CCCCATCACACCG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02280.hp2 HG00733.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0147 a0003c0003t0001g0179 a0003c0003t0001g0147 a0003c0003t0001g0179	2	224	0.0089	562	c.225 others(581): Show c.2251+1162_2251+1163insCGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTC TTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA CGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTG ATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029267	A A	ATCCTGAA others(555): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCC ATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACAC CGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTC GTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGA CCCCATCACACCG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0154 a0003c0003t0001g0154	1	224	0.0045	562	c.225 others(581): Show c.2251+1162_2251+1163insCGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTC TTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA CGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTG ATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTN_chr2_178520989_178812423	178757187	A A	ACAGTAAG others(555): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAATACTGTACTTACTTTAAGTGCAG TAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAA GTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTA CTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0134 a0134	a0134c0058 a0134c0058	a0134c0058t0002 a0134c0058t0002	a0134c0058t0002g0153 a0134c0058t0002g0153	1	242	0.0041	562	c.106 others(581): Show c.10678+354_10678+355insCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAAGT AAGTACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACT TAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACT TAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTAC TTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGT ACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACT TAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTAC TTACTGTACTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178739405_178812423	178757187	A A	ACAGTAAG others(555): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAATACTGTACTTACTTTAAGTGCAG TAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAA GTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTA CTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0222 a0005c0005t0003g0222	1	370	0.0027	562	c.103 others(583): Show c.10303+1796_10303+1797insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAA GTAAGTACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCA CTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATT ACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAA GTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCA CTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATT ACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAA GTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTA CTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATT ACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(555): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CTCCTTCCCCCTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	246	0.0041	562	c.-10 others(579): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCTCCTTCCCCCTTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(555): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCTTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTTCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC TCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	246	0.0041	562	c.-10 others(579): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTTCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCTCCTTCCCCCCTTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(555): Show GATATATATCATATACATCACATATATGATATATATCATATGTGATATAT ATCATATACATCACATATATGATATATATCATATGTGACATATATCATAT ACATCACATATATGATATATATCATATGTGATATATATCATATACATCAC ATATATGATATATATCATATGTGATATATATCATATACATCACATATATG ATATATATCATATGTGATATATATCATATACATCACATATATGATATATA TCATATGTGATATATATCATATACATCACATATATGATATATAGCATATA TATCATATATGATATATAGCATATATATCATATGTGATATATAGCATATA TATCATATGTGATATATAGCATATATATCATATGTGATATATAGCATATA TATCATATATCATATATCATATATATCATATATCATATATCATATATATC ATATATCATATATATCATATGTGATATATATGATATATATGATATATATC ATATATGATATATATGATATATCACATATATATGATATATATCACATATA TATCATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0011 a0004c0005t0011	a0004c0005t0011g0163 a0004c0005t0011g0163	1	350	0.0029	562	c.-35 others(573): Show c.-3503_-3502insATATATATCATATACATCACATATATGATATATA TCATATGTGATATATATCATATACATCACATATATGATATATATCATATG TGACATATATCATATACATCACATATATGATATATATCATATGTGATATA TATCATATACATCACATATATGATATATATCATATGTGATATATATCATA TACATCACATATATGATATATATCATATGTGATATATATCATATACATCA CATATATGATATATATCATATGTGATATATATCATATACATCACATATAT GATATATAGCATATATATCATATATGATATATAGCATATATATCATATGT GATATATAGCATATATATCATATGTGATATATAGCATATATATCATATGT GATATATAGCATATATATCATATATCATATATCATATATATCATATATCA TATATCATATATATCATATATCATATATATCATATGTGATATATATGATA TATATGATATATATCATATATGATATATATGATATATCACATATATATGA TATATATCACATATATATCATATATATC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(555): Show ATATATATCATATATGTGATATATATCACATATGTGATATATATCATATC ACATATCATATGACATATCATATCACATATCACATATCACATATCACATA TCACATATCATATGATATATATCACATGTGATATATAGCATATGTGATAT ATATCATATATATCACATGTGATATATAGCATATGTGATATATATCATAT ATATCACATATGATATATAGCATATGTGATATATATCATATATATCACAT ATGCTATATAGCATATGTGATATATATCATATATATCACATATGCTATAT AGCATACGTGATATATATCATATATATCATATATGATGTATAGCATGATA TATATGCTATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATGTGATATATATGATATATGTGATATATATCATATGTGATA TATATGATATATATCACATATATATGATATATATCACATATATATCATAT ATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 NA18966.hp1 NA19002.hp1 HG02293.hp2 NA18966.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0016	3	350	0.0086	562	c.-34 others(573): Show c.-3475_-3474insTATATATCATATATGTGATATATATCACATATGT GATATATATCATATCACATATCATATGACATATCATATCACATATCACAT ATCACATATCACATATCACATATCATATGATATATATCACATGTGATATA TAGCATATGTGATATATATCATATATATCACATGTGATATATAGCATATG TGATATATATCATATATATCACATATGATATATAGCATATGTGATATATA TCATATATATCACATATGCTATATAGCATATGTGATATATATCATATATA TCACATATGCTATATAGCATACGTGATATATATCATATATATCATATATG ATGTATAGCATGATATATATGCTATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATGTGATATATATGATATATGTGATAT ATATCATATGTGATATATATGATATATATCACATATATATGATATATATC ACATATATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(555): Show ATATATATCATATATGTGATATATATCACATATGTGATATATATCATATC ACATATCATATGACATATCATATCACATATCACATATCACATATCACATA TCACATATCATATGATATATATCACATGTGATATATAGCATATGTGATAT ATATCATATATATCACATGTGATATATAGCATATGTGATATATATCATAT ATATCACATATGATATATAGCATATGTGATATATATCATATATATCACAT ATGCTATATAGCATATGTGATATATATGATATATATCACATATGCTATAT AGCATACGTGATATATATCATATATATCATATATGATGTATAGCATGATA TATATGCTATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATGTGATATATATGATATATGTGATATATATCATATGTGATA TATATGATATATATCACATATATATGATATATATCACATATATATCATAT ATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	350	0.0029	562	c.-34 others(573): Show c.-3475_-3474insTATATATCATATATGTGATATATATCACATATGT GATATATATCATATCACATATCATATGACATATCATATCACATATCACAT ATCACATATCACATATCACATATCATATGATATATATCACATGTGATATA TAGCATATGTGATATATATCATATATATCACATGTGATATATAGCATATG TGATATATATCATATATATCACATATGATATATAGCATATGTGATATATA TCATATATATCACATATGCTATATAGCATATGTGATATATATGATATATA TCACATATGCTATATAGCATACGTGATATATATCATATATATCATATATG ATGTATAGCATGATATATATGCTATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATGTGATATATATGATATATGTGATAT ATATCATATGTGATATATATGATATATATCACATATATATGATATATATC ACATATATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(555): Show ATATATATCATATGTGATATATATCATATATCACATATATGATATATATC ATATGTGATATATATCATATATATCACATATATGATATATATCATATGTG ATATATATCATATATATCACATATATGATATATATCATATATGTGATATA TATCATATATATCACATATATGATATATATCATATATGTGATATATATCA CATATATGATATATATCATATATGTGATATATATCACATATGTGATATAT ATCATATCACATATCATATGACATATCATATCACATATCACATATCACAT ATCATATGATATATATCACATGTGATATATAGCATATGTGATATATATCA TATATATCACATATGATATATAGCATATGTGATATATATCATATATATCA CATATGATATATAGCATATGTGATATATATCATATATATCACATGTGATA TATAGCATATGTGATATATATGATATATGTGATATATATCATATGTGATA TATATGATATATATCACATATATATGATATATATCACATATATATGATAT ATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 NA18906.hp2 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	2	350	0.0057	562	c.-34 others(573): Show c.-3475_-3474insTATATATCATATGTGATATATATCATATATCACA TATATGATATATATCATATGTGATATATATCATATATATCACATATATGA TATATATCATATGTGATATATATCATATATATCACATATATGATATATAT CATATATGTGATATATATCATATATATCACATATATGATATATATCATAT ATGTGATATATATCACATATATGATATATATCATATATGTGATATATATC ACATATGTGATATATATCATATCACATATCATATGACATATCATATCACA TATCACATATCACATATCATATGATATATATCACATGTGATATATAGCAT ATGTGATATATATCATATATATCACATATGATATATAGCATATGTGATAT ATATCATATATATCACATATGATATATAGCATATGTGATATATATCATAT ATATCACATGTGATATATAGCATATGTGATATATATGATATATGTGATAT ATATCATATGTGATATATATGATATATATCACATATATATGATATATATC ACATATATATGATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(556): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATA TCATATATAAAAATTTATATATATCATATATAAAAATTTATATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	563	c.-10 others(574): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATATAAATTTTTA TATATGATATATATAAATTTTTATATATGATATATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATAAATA TAAATTTTTATTTATGATATATAAATATAAATTTTTATATATTTATGATA TATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS2_chr5_179105853_179350461	179277979	C C	CCTCCGAG others(556): Show CCTCCGAGACCAAAGGCTGACACCCCCCGAGACCAAAGGCTGACCGCCCC CGAGACCAAAGGCTGACCCCCCCGTGAGACCAAAGGCTGACCCCCCCCGA GACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGA CCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAG GCTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCT GACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCC CCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCC CCCGAGACCAAAGGCTGACCCCCCACCCGAGACCAAAGGCTGACACCCCC CAGAGACCAAAGGCTGACCCCCCCGAGACCAAAGGCTGACCCCCCCGAGA CCAAAGGCTGACCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0021 a0001c0001t0013g0021	1	276	0.0036	563	c.535 others(580): Show c.535-4916_535-4915insGGGTCAGCCTTTGGTCTCGGGGGGGTCA GCCTTTGGTCTCGGGGGGGTCAGCCTTTGGTCTCTGGGGGGTGTCAGCCT TTGGTCTCGGGTGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTG GTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCT CGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCG GGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGGGG GGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGG GGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGT CAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAG CCTTTGGTCTCACGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCT TTGGTCTCGGGGGGTGTCAGCCTTTGGTCTCGGAG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ARHGAP39_chr8_144524179_144690846	144687120	C C	CCCCGTGA others(556): Show CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCAC TTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGAC CACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCG AGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCC GTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTG GCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTC CCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCA CGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAG CACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGT GACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCG GCGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0028 a0001c0002t0009g0028	1	246	0.0041	563	c.-15 others(574): Show c.-1517_-1516insTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTC ACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTG CTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGT GTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGT GGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCG CCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCT CGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTG GTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGA AGTGCTCGCCGCCAGTGCGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1275		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687156	C C	CCCCGTGA others(556): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCA CTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGA CCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACT AGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCA CACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAG CACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGT GACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCG GTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0156	1	246	0.0041	563	c.-15 others(574): Show c.-1553_-1552insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTG CTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTG TGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGG TCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGA AGTGCTCGCTGTAAATGAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1311		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCGTGA others(556): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCCGTGACCACGCACTGGCGGTGAGCACTTCCCACCC CCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACT GGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTT CCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCA CACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAG CACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGT GACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTGGCG GTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	246	0.0041	563	c.-15 others(574): Show c.-1589_-1588insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTG CTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTG TGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGG GAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGC CAGTGCGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGC TCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGT GGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(556): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATT TACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTC CCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGC ATTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTG ACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	246	0.0041	563	c.-18 others(574): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAATGCTCACTGTAAATGTGTGGT CACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGG GAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGC CAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGA AGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687567	G G	GGTGAGCA others(556): Show GGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCA CCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGA CCACACATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGT GAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATT TACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTC CCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGC ATTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTG ACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	246	0.0041	563	c.-19 others(574): Show c.-1964_-1963insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAATGCTCACTGTAAATGTGTGGT CACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGG GAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGC CAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACG GGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTC ACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGA AGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAG TGTGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1722		chr8	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(556): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCTCCACCCCGCAGCCCCCGTCCAGGCCCCGACGCGT GCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	391	0.0026	563	c.36 others(574): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCCGTC CAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(556): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGGA AGGGGAGGAGGAAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAG GAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGG GAAGGGGGAGGAGGAAGGGGGGAAGGGGGGAGCGGGAGGAGGAAGGGGAA GACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAG GAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGG AGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAG GAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAGGAGGAGGAG GAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGA GGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAG TGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	300	0.0033	563	c.-70 others(572): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGGAAGGGGAGGAGGAAAGGGGAGGAAGGAGGAGGAGGAAG TGGGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGG GAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGGAGCGGGA GGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAG GAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAG GGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGAGGAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAG AAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BRD3OS_chr9_134020481_134036587	134025265	T T	TCCAGCCC others(556): Show TCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAAC AGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTT CAGCCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCC TCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTC CTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCA GCCCCTCCTCCTCCTCCAGGCCCCTCCTCCTCATCCAGCCCCTCCTCCTC ATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCT CCTCCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCC TCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTC CTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCA GCCCCTCCTCCTCCAGCCCTTTTCCTCCTTCAGCCCTTCCTCCTTCAGCC CCTCCTCCTCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0002 a0001c0001t0043g0002	1	334	0.0030	563	c.-10 others(574): Show c.-1058_-1057insCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCC AGCTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATC CAGCCCCTCCTCCTTCAGCCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCC TCCTCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTC CTGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCA GCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGGCCCCTCCTCCTCATC CAGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTC CCAGCTCCTCCTCCTCCTCCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTC CCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACC ATCCAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCC CCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTTTCCTCCTTCAGCC CTTCCTCCTTCAGCCCCTCCTCCTCCAGC	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		215		chr9	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(556): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG GTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGG CGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0007 a0002c0014t0007	a0002c0014t0007g0123 a0002c0014t0007g0123	1	338	0.0030	563	c.300 others(580): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCC GGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGCCG GGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGG CGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH4_chr20_61247261_61945617	61784425	C C	CTGTGCCC others(556): Show CTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCCAG GCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGG GACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAAT CCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCA GGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGT CTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGAG GCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGG GACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAAT CCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCA GGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGT CTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGAG GCCCTCAGGTGTCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0102 a0002c0002t0023g0102	1	106	0.0094	563	c.576 others(582): Show c.576+11289_576+11290insCAGGCCCTCAGATGTCCTGTGCCCCC AAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGAT GTCCTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTC AAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTC GGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAGGAGAATGTAA GCCCAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCC AAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGAT GTCCTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTC AAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTC GGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAGGAGAATGTAA GCCCAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCC AAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL5A1_chr9_134636803_134849843	134760325	C C	CACACCCA others(556): Show CACACCCACACACCCCCACACATACACACATGCACACACACCACACATGC ACACACACCACACATGCACACATACGCATACACACCCACACACCCACACT CATACACACATGCACACACCACACATGCATACACACCCACGCACCCCCAC ACTCATACACACATGCACACACACCACACATGCACACAATACACACCCAC ACTCCCACACTCATACACACATGCACACACACCACACATGCACACACGCA TACACACCCACACCCCCCCACTCACACGCACACCCCCACACCCCCACACT CATACACACATGCACACACACCACACAGGCACACACACACCCACGCACCC CCACACTCATACATGCACACACACGCATACACGCCCACACACCCCCATAC TCATACACGCCCACACACCCCCACACTCACATGTGCACAGACACCACACA TGGACACACATACATGCACACACACATACACACCCACACCCCCACACTCA TACACACATGCACACACCACACATGCGCGCACACGCATACACACCCACAC ACCCCACACTGATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18999.hp1 NA19005.hp1 others(4): Show HG02080.hp2 NA18999.hp1 NA19005.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0029 a0001c0002 a0004c0029	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0055 a0004c0029t0002 a0004c0029t0005	a0001c0002t0001g0156 a0001c0002t0002g0077 a0001c0002t0004g0015 others(4): Show a0001c0002t0001g0156 a0001c0002t0002g0077 a0001c0002t0004g0015 a0001c0002t0005g0063 a0001c0002t0055g0152 a0004c0029t0002g0097 a0004c0029t0005g0100	7	272	0.0257	563	c.193 others(582): Show c.1936-1600_1936-1599insACACCCACACACCCCCACACATACAC ACATGCACACACACCACACATGCACACACACCACACATGCACACATACGC ATACACACCCACACACCCACACTCATACACACATGCACACACCACACATG CATACACACCCACGCACCCCCACACTCATACACACATGCACACACACCAC ACATGCACACAATACACACCCACACTCCCACACTCATACACACATGCACA CACACCACACATGCACACACGCATACACACCCACACCCCCCCACTCACAC GCACACCCCCACACCCCCACACTCATACACACATGCACACACACCACACA GGCACACACACACCCACGCACCCCCACACTCATACATGCACACACACGCA TACACGCCCACACACCCCCATACTCATACACGCCCACACACCCCCACACT CACATGTGCACAGACACCACACATGGACACACATACATGCACACACACAT ACACACCCACACCCCCACACTCATACACACATGCACACACCACACATGCG CGCACACGCATACACACCCACACACCCCACACTGATA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65			chr9	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGGGG others(556): Show TGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGGGAGGGGA GGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGAGGAGGGGGAGGGGAG GGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGAGGGGGAGA GGACGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGACGGGGGGGGGAGGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0069 a0001c0071t0069	a0001c0071t0069g0115 a0001c0071t0069g0115	1	126	0.0079	563	c.416 others(584): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCCCCCGTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCGTCCTCTCCCCCTC CCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DCLK2_chr4_150073445_150262438	150251202	A A	ACACATCC others(556): Show ACACATCCCTCACACCCCCCACACCCCCCACACCACACATCCCTCACACC CCCCACACCACACATCCCTCACACCCCCCACACCCCCCACACCACACATC CCCCACACCCCCCACACCCCCACACACCACACATCCCTCACACCCCACAC ACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCAACACCCCC ACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACACCC CCCAACACCCCCACACCCCCCACACCCCCACACCCCCACACCCCCACACA CCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCAACACCCCCA CACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCC CCAACACCCCCACACCCCCACACACCCCCCACACCCCCCACACCCCCCAC ACCACACATCCCTCACACCCCCCACACCCCCCACACCACACATCCCCCAC ACCCCCCACATCCCCCATACCCCCCACACCCCCATACCCCTCACATCCCC CACACCCCCATCTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0016 a0001c0003t0008g0016	1	116	0.0086	563	c.207 others(582): Show c.2073+1519_2073+1520insACATCCCTCACACCCCCCACACCCCC CACACCACACATCCCTCACACCCCCCACACCACACATCCCTCACACCCCC CACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACC ACACATCCCTCACACCCCACACACCCCCCACACCACACATCCCCCACACC CCCCACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACAC ATCCCTCACACCCCCCACACCCCCCAACACCCCCACACCCCCCACACCCC CACACCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCC CCCACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACA TCCCCCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACACCCC CCACACCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCACACC CCCCACACCACACATCCCCCACACCCCCCACATCCCCCATACCCCCCACA CCCCCATACCCCTCACATCCCCCACACCCCCATCTCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(556): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGG GAGTCGGGGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	367	0.0027	563	c.-42 others(574): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGGGTGAGGGAGTCGGGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(556): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCACCCGCACC CGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCG CACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGCA CCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACC CGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCC CACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCA CCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCACC CCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCG CACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCA CCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACC CGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	320	0.0031	563	c.39 others(574): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGTGGGGGT GGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGG GGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIP2C_chr10_269201_694668	556134	T T	TCCACAGC others(556): Show TCCACAGCCGGATCCCAGGACGGCACCCACCCCTCCCACAGCCGGATCCC AGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCGAGGACAGCACCC ACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACA GCCAGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAG GACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCA CCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCC ACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCC CAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACC CACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTC CCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGAT CCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCA CCCACCCACCCCTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	88	0.0114	563	c.86- others(580): Show c.86-69605_86-69604insGAGGGGTGGGTGGGTGCCGTCCTGGGAT CCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGA GGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGG TGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGG ATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGG GAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTG GGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTG GGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTG TGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCTGGCTGTGGGAGGGGTGG GTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCTCG GATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTG GGAGGGGTGGGTGCCGTCCTGGGATCCGGCTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DPEP1_chr16_89608642_89643433	89619557	T T	TCCCCTCC others(556): Show TCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCG CTCCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCC CTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCC CTGCCCCCCTGCTCCCCTGTCTGCAGCCCCCTGCCCCCCTGCTCCCCTCC CTGCAGCTCCCTGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	250	0.0040	563	c.-10 others(582): Show c.-107+5842_-107+5843insTCCCTGCAGCCCCCTGCCCCCCCCGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCCTCCCTGCAGCCCCCTGCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTGTCTGCAGCCCCC TGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATAATT others(556): Show ATATAATTATATATAATATATAATATATTATATATTATATATATTATATA AATATATAATATATTATATATAATTATATAATATATTATATATAATATAT AATTATATGTTATATATTATATATATTATATATTATATATATATTATATA TATAATATATATTATATATTAAATTATATATAATATATATTATATATATA ATTTATATATATAAAATATATTATATATTATATAAATATATATATTTTAT ATATATAAAATATATATTTTATAATATATAATATAGAAATATATTTATAT AATATATAATTATATATAATTATATATTATATAATATATATTTCTATATT ATATATTTATAATGTATAATATATAAATATATTATAAATATATATTATAT ACTATATAATGCATTATAAATATATTATATTTATATATTATAAATATATT ACATATTTATATATTATATATATAATATATATATTATATATTATAAATAT ATTTTATAAAATATAATATATATATTATATATTATATTTTATAAAATATA ATAATAATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0156 a0001c0004t0008g0156	1	220	0.0046	563	c.551 others(582): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATATATAATATATATATTATATTTTATAAAATATATTTATAATA TATAATATATATATTATATATATAATATATAAATATGTAATATATTTATA ATATATAAATATAATATATTTATAATGCATTATATAGTATATAATATATA TTTATAATATATTTATATATTATACATTATAAATATATAATATAGAAATA TATATTATATAATATATAATTATATATAATTATATATTATATAAATATAT TTCTATATTATATATTATAAAATATATATTTTATATATATAAAATATATA TATTTATATAATATATAATATATTTTATATATATAAATTATATATATAAT ATATATTATATATAATTTAATATATAATATATATTATATATATAATATAT ATATAATATATAATATATATAATATATAACATATAATTATATATTATATA TAATATATTATATAATTATATATAATATATTATATATTTATATAATATAT ATAATATATAATATATTATATATTATATATAATTATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(556): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCAACCCTCCTCCGCATCCTCAGGGAACCTG CCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACC CTCCCCCCCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCA CCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCCACC CTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCT GCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCT CAGGGAACCTGCCCACCTTCCACCCCACCCTCCTCCGCATCCTCAGGGAG CCTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAAGCTGCC CAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTC CACCCCACCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	374	0.0027	563	c.14 others(574): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGC AGAGGAGGGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGG GTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCA GCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCC TGAGGATACAGAGGAGGGTCGGGGGGGGAGGGTGGGCAGGTTCCCTGAGG ATGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATGCGG AGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGT CAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTG GAGGATGGGCAGGTTCCCTGAGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTTCCCCC others(556): Show CTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCC CCCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCAC CCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCT CTGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATC CTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGG AGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGC CCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCAACCT CCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCACCCC ACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCC TCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCATCCTCAGG GAACCTGCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	374	0.0027	563	c.13 others(574): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGTTG GGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGT TCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGGGCAGGCTCCCTGA GGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGG GTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGT GGAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGG TGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAG GTTCCCTGAGGATACAGAGGAGGGTCGGGGGGGGAGGGTGGGCAGGTTCC CTGAGGATGCAGAGGAGGGTCGGGGGGAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTTCCCCC others(556): Show CTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCC CCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACC CTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTC TGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCC TCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGA GCCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAACCTGC CCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCT CCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCC ACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCC TCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCATCCTCAGG GAACCTGCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	374	0.0027	563	c.13 others(574): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGTTG GGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGC TCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGA GGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCTTGAGGATGCA GAGGAGGGTCAGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAG GGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGG TGGAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGG GTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCA GGTTCCCTGAGGATACAGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCC CTGAGGATGCAGAGGAGGGTCGGGGGGAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(556): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG GAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAG GAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAA GGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAG GGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0019 a0004c0012t0001g0019	1	290	0.0035	563	c.757 others(580): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCG TCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTT TCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTC TTCCTTCCCTCCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCC CTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCT TCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCT TCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCC TCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCC TTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCC CTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EHMT1_chr9_137614005_137841127	137721200	A A	ACCCCTCC others(556): Show ACCCCTCCCAGACTTCTCACACTCGCCCCCTCCCAGACTTCTCACACTCA CCCCTCCCAGACTTCTCACACTCGCCCCCTCCCAGACTTCTCACACTCAC CCCTCCCAGACTTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACC CCTCCCAGACTTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACCC CCTCCCAGACTTCTCACACTCACTCCTCCCAGACTTCTCACACTCACCCC CACCCAGACTTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCC CTCCCAGACTTCTCACACTCACCCCTCCCAGACTTCTCACACTCATCCTC TCCCAGACTTCTCACACTCACCCCCCAGACTTCTCACACTCATCCCCTCC CAGACTTCTCACACTCACCCCTCCCAGACTTCTCACACTCACCCCTCCCA GACTTCTCACACTCGCCCCCTCCCAGACTTCTCACACTCACCCCTCCCAG ACTTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCCTCCCAGA CTTCTCACACTCGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02886.hp1 others(1): Show HG02055.hp2 HG02630.hp1 HG02886.hp1 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0067 a0001c0003t0001g0105 a0001c0003t0001g0121 others(1): Show a0001c0003t0001g0067 a0001c0003t0001g0105 a0001c0003t0001g0121 a0001c0003t0001g0130	4	170	0.0235	563	c.642 others(580): Show c.642+4041_642+4042insGCCCCCTCCCAGACTTCTCACACTCACC CCTCCCAGACTTCTCACACTCGCCCCCTCCCAGACTTCTCACACTCACCC CTCCCAGACTTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCC TCCCAGACTTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCCC TCCCAGACTTCTCACACTCACTCCTCCCAGACTTCTCACACTCACCCCCA CCCAGACTTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCCCT CCCAGACTTCTCACACTCACCCCTCCCAGACTTCTCACACTCATCCTCTC CCAGACTTCTCACACTCACCCCCCAGACTTCTCACACTCATCCCCTCCCA GACTTCTCACACTCACCCCTCCCAGACTTCTCACACTCACCCCTCCCAGA CTTCTCACACTCGCCCCCTCCCAGACTTCTCACACTCACCCCTCCCAGAC TTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCCTCCCAGACT TCTCACACTCGCCCCCTCCCAGACTTCTCACACTC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(556): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGCCGGGGGGTCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGC AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGA GGCAAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCC CCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATC CGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp2 HG02109.hp1 others(4): Show HG01069.hp2 HG01243.hp2 HG02109.hp1 HG02145.hp2 HG02922.hp1 HG03225.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0255 a0001c0001t0001g0277 a0001c0001t0001g0304 others(4): Show a0001c0001t0001g0255 a0001c0001t0001g0277 a0001c0001t0001g0304 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0003c0005t0001g0314	7	322	0.0217	563	c.976 others(578): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGACCCCCCGGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(556): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGCCGGGGGGTCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGC AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGA GGCAAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCC CCGCCCGGCCAGCCACCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATC CGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02615.hp2 HG02630.hp2 others(4): Show HG01943.hp1 HG02615.hp2 HG02630.hp2 HG03041.hp1 HG03225.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 others(4): Show a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0280	7	322	0.0217	563	c.976 others(578): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGACCCCCCGGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar

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Search Results (Total: 10000 hits)