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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
TFPT_chr19_54102020_54120657	54109797	C C	CTCCACCC others(791): Show CTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGG CCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGT CCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAG CCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCAC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCAC CCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCT CAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGC TCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCC ACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCC CTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGC GCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	429	0.0023	798	c.353 others(813): Show c.353+253_353+254insAGGGGCTGTGCGCTGGGACTGAGGGAGGGC CGGGTGGAAGGGGCTGAGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGG GCTGAGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGAGCGCTGG GACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGG GCCGGGTGGAGAGGGCTGAGCGCTGGGACTGAGGGAGGGCCGGGTGGAAG GGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGAGCGCT GGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGA GGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGA AGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCG CTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGAGCGCTGGGACTGAGG GAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTG GAAGGGGCTGAGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTG CGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGA GGGAGGGCCGGGTGGAAGGGGCTGAGCGCTGGGACTGAGGGAGGGCCGGG TGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTG AGCGCTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGTGCGCTGGGACT GAGGGAGGGCCGGGTGGA	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding	3/5			chr19	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(791): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0021 a0004c0006t0002g0021	1	444	0.0023	798	c.227 others(817): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115891	G G	GGCGAAGG others(791): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGT GGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0079 a0001c0005t0079	a0001c0005t0079g0307 a0001c0005t0079g0307	1	444	0.0023	798	c.227 others(817): Show c.2277+1377_2277+1378insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM132C_chr12_128262170_128712911	128292999	A A	AAAATGTG others(791): Show AAAATGTGATTCTTTTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTT TTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTT ACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCA TCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACC CCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATC TCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTT TGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGT CCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCA TGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGCAT TTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACAT ACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATA TACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCC CTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTC CCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACC TGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGA TATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0006 a0006	a0006c0024 a0006c0024	a0006c0024t0002 a0006c0024t0002	a0006c0024t0002g0087 a0006c0024t0002g0087	1	170	0.0059	798	c.85+ others(815): Show c.85+25525_85+25526insTTTTTTTTTTTTTTTTTAATTTATTTTT ATTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCA GGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTA ATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTC CCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCC ATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTT TGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTC ATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATA GTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTG TTGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCA ATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATT TGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTT CTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGT TTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCT CCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTG TGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGT GATGATGAAATGTGATTCTT	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNFRSF18_chr1_1198508_1211592	1202512	C C	CCTCCAGC others(791): Show CCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAG TACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCC AGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCC AGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCC AGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCC CGAGCCCAGTACCTAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTAC CCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGC CCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGC CCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCA GTACCCAGTCTCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTC CAGCCCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACC CAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03579.hp1 HG02055.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	386	0.0052	798	c.13 others(809): Show c.1331_*1332insACTGGGTACTGGGCTCGGGGCTGGGTACTGGGCT GGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTA CTGCGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTCGGGG ATGGGTACTGGGCTGGAGGCTGGGTACTGGGCTTGGGGCTGGGTACTGGG CTGGAGACTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGATGGG TACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGG GGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTG GGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTG GGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTC GGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTCGGGGATGGGTAC TGGGCTCGGGGCTGGGTACTGGGCTGGAGACTGGGTACTGGGCTCGGGGC TAGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGC TGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGT ACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGG GCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGG GCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGG GTACTGGGCTGGAG	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		995		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202512	C C	CCTCCAGC others(791): Show CCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAG TACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCC AGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCC AGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCC AGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCC CGAGCCCAGTACCTAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTAC CCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGC CCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGC CCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCA GTACCCAGTCTCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTC CAGCCCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACC CAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0004	a0007c0007t0004g0158 a0007c0007t0004g0158	1	382	0.0026	798	c.46 others(809): Show c.4665_*4666insCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACC CAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCC TCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCCCGAGCCCAGTACCTAGCCCCGAGCCCAGTACCCAG TCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAG TACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCC AGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCC AGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCC AGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCT CCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTAC CCAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCAAGC CCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCCCAGTACCCATC CCCGAGCCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGT ACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGA GCCCAGTACCCAGT	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4577		chr1	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(791): Show TAATAATATAATATATATTATTATAATTATATATAATAATATAATATATA TTATTATAATTATATATAATAATATAATATATATTATTATATATTATTAT ATATAATAATATAATATATATTATTATATATTATTATATATAATAATATA TATTATATTATTATATATAATTATATATAATAATATAATATATATTATTA TATATAATTATATATAATAATATAATATATATTATTATATATAATTATAT ATAATAATATAATATATATTATTATATATAATTATATATAATAATATAAT ATATATTATTATATATAATAATAATATATATATATTATTATATATAATTA TATATAATAATATAATATATATTATTATATATAATTATATATAATAATAT AAATATATTATTATATATTATTATATATAATAATATAATATATATTATAT ATTATTATATATAATAATATAATATATATTATATATTATTATATATAATA ATATAATATATATTATTATATATTATTATATATAATAATATAATATATAT TATTATATATAATAATATAATATATATTATTATATATTATTATATATAAT AATATAATATATATTATTATATATAATAATATAATATATATTATTATATA TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATAATATAATATATATTATTATATATTATTATAT ATAATAATATAATATATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	238	0.0042	798	c.392 others(815): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATATTATATTATTATATATAATAATATATAATAATATAT ATTATATTATTATATATAATAATATATATTATATTATTATATATAATAAT ATATAATAATATATATTATATTATTATATATAATAATATATAATATATAT TATATTATTATATATAATAATATATAATATATATTATATTATTATATATA ATAATATATAATAATATATTTATATTATTATATATAATTATATATAATAA TATATATTATATTATTATATATAATTATATATAATAATATATATATATTA TTATTATATATAATAATATATATTATATTATTATATATAATTATATATAA TAATATATATTATATTATTATATATAATTATATATAATAATATATATTAT ATTATTATATATAATTATATATAATAATATATATTATATTATTATATATA ATTATATATAATAATATAATATATATTATTATATATAATAATATATAATA ATATATATTATATTATTATATATAATAATATATAATAATATATATTATAT TATTATATATAATTATAATAATATATATTATATTATTATATATAATTATA ATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
VEGFB_chr11_64229584_64244264	64237115	G G	GGGAGAGG others(791): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGAC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	328	0.0031	798	c.375 others(811): Show c.375-72_375-71insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGACAGAC	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(791): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTATAATATAGTTATAATATATAAATATATATTAT AACTATATTAAATATATAAATTATATAATATATATTATATATTGTATATT ATATAATTTATATAATATATTATATGTTATATAATATATTATATATTGTA TATATTATATTATATATTATATATTTTATATATCATATATAGTATGCTAT ATAATATATATTTTTATATATTATATAGTATACTATATATTTTTATATAT TATATAGTATACTATATAATATATATTTTTATATATTATATATAATATAT ATAATTATATATCATATATATTTATATAATATATGATATATAATATATAA TATATATTATGTATTATATAATTATATAAAATATATCATTATTATATATT ATAAATAATATATTATATATTATATTATATATTATAAATAATATATTATA TATTATATTATATATTATAAATAATATATTATATATTATATTATATATTA TAAATAATATATTATATATTATATTATATATTATAAATAATATATTATAT ATTATATTATATATTATAAATAATATATTATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATAAATAATATATTA TATATAATATGTTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	302	0.0033	798	c.-1- others(815): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTATAATATAGTTATAATA TATAAATATATATTATAACTATATTAAATATATAAATTATATAATATATA TTATATATTGTATATTATATAATTTATATAATATATTATATGTTATATAA TATATTATATATTGTATATATTATATTATATATTATATATTTTATATATC ATATATAGTATGCTATATAATATATATTTTTATATATTATATAGTATACT ATATATTTTTATATATTATATAGTATACTATATAATATATATTTTTATAT ATTATATATAATATATATAATTATATATCATATATATTTATATAATATAT GATATATAATATATAATATATATTATGTATTATATAATTATATAAAATAT ATCATTATTATATATTATAAATAATATATTATATATTATATTATATATTA TAAATAATATATTATATATTATATTATATATTATAAATAATATATTATAT ATTATATTATATATTATAAATAATATATTATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATAAATAATATATTATATATAATATGTTATATATTATAAATAATATATT ATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(791): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGTGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGAGAAGTGAGGGGAGGGAGGGAGGGAAGGGAGGGAGGGGAGGGGAGGGA GGGAAGGGAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAG GGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGG GAGGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGG GGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAG GGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGG CAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAGGGAAGTGA AGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGGAGGGG AGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0048 a0001c0002t0003g0048	1	290	0.0035	798	c.205 others(817): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCGCTCCCCTCA CTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCC TTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCC TCCCCTCCCCTCCCTCCCTTCCCTCCCTCCCCTCCCCTCCCTCCCTTCCC TCCCTCCCTCCCCTCACTTCTCTCCCTCCCTCCCCTCACTTCCCTCCCTC CCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTC CCTCCCCTTCCCTCCCCTCCCTCCCCTCCCTCCCCTTCCCTCCACTCCCT CCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTTCCCT GCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCCTCCCTCCTCTCC CTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCTTTTCTCCCTCCC TCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(792): Show CCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0172 a0001c0004t0002g0172	1	249	0.0040	799	c.49- others(814): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ADAMTS17_chr15_99966437_100346975	100011336	G G	GGGAAGGA others(792): Show GGGAAGGAAAGGAGAGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GTGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGAGGGATGGGAGGG AGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGG GATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAA GGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGG AGGGAAGGAAAGGAGGGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAG GGAGGGAGGGAAGGAAAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGA TGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0071 a0001c0002t0065g0071	1	228	0.0044	799	c.259 others(820): Show c.2592-13748_2592-13747insTCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCC CTCCCATCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCT CCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCT CTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCT CCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCC TCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCCCTCCTTTC CTTCCCTCCCTCCCTCCCATCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCAC CCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCC TCCCTCCCATCTCTCCTTTCCTTCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADGRD1_chr12_130948907_131146469	131046716	C C	CCCTCCCT others(792): Show CCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAG TGTCCTCCCTGTTCAGTGCTCCCTCCCTGTTCAGTGCTCCCTCCCTGGTC AGTGTCCTCCCTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAG TGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTC AGTGTCCTCCCTTGTCAGTGTCCTCCGTGGTCAGTGCTCCTCCCTGGTCA GTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAG TGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAATGCTCCCTCCCTGGTC AGTGCTCCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTGTCCTCCCTGGTC AGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGCTCCCTCCCTGGTC AATGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGG TCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCTCCCTG GTCAGTGTCCTCCCTGGTCAGGGTCCTCCCTGGTCAGCGCTCCCTCCCTG GTCAGTGTCCTCTCTCCCTGGTCAGTGTCCTCCCTGGTCAGCGCTCCCTC CCTGGTCAGTGTCCTCCCTGGTCAGCGCTCCCTCCCTGGTCAGTGTCCTC CCTGGTCAGTGCCCCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCCC CCTCCCTGGCCAGTGTCCTCCCTGGTGAGTGCTCCCTCCCTGGTCAGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	242	0.0041	799	c.147 others(820): Show c.1474-30073_1474-30072insATGCTCCCTCCCTGGTCAGTGCTC CCTCCCTGGTCAGTGTCCTCCCTGTTCAGTGCTCCCTCCCTGTTCAGTGC TCCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCTCCCTGGTCAGTG TCCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGC TCCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTGTCCTCCGTGGTCAGTGC TCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTC CCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAATGC TCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTTGTCAGT GTCCTCCCTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGC TCCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCA GTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCA GTGCTCCTCCCTGGTCAGTGTCCTCCCTGGTCAGGGTCCTCCCTGGTCAG CGCTCCCTCCCTGGTCAGTGTCCTCTCTCCCTGGTCAGTGTCCTCCCTGG TCAGCGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAGCGCTCCCTCCCT GGTCAGTGTCCTCCCTGGTCAGTGCCCCCTCCCTGGTCAATGCTCCCTCC CTGGTCAGTGCCCCCTCCCTGGCCAGTGTCCTCCCTGGTGAGTGCTCCCT CCCTGGTCAGTGTCCTCCCTGGTCA	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANKRD28_chr3_15662236_15802979	15742674	A A	AGCCAGCC others(792): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCACCATCTGGGAGGGAGGTGGGGGGGGGGTCAGTCTCCCCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGTGAAGTGAGGATCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAA GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGA GGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCTCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCTAGCCGCCCCGTCTGGGA GGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0053	a0001c0003t0053g0313 a0001c0003t0053g0313	1	340	0.0029	799	c.352 others(816): Show c.352-5442_352-5441insGGGCGGGGGCTGAACCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCTCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCACCTCCCTCCCAGACGGGGCGGCTAGCCTGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGAGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGTGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGGCAG AGGGGATCCTCACTTCACAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGGGGAGACTGACCCCCCCCCCACCTC CCTCCCAGATGGTGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGC	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	4/27			chr3	TogoVar
ANKRD28_chr3_15662236_15802979	15742674	A A	AGCCAGCC others(792): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCACCATCTGGGAGGGAGGTGGGGGGGGGTCAGTCTCCCCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGTGAAGTGAGGATCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAAG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGA GGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAG GGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCTCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCTAGCCGCCCCGTCTGGGA GGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0309 a0001c0001t0006g0309	1	340	0.0029	799	c.352 others(816): Show c.352-5442_352-5441insGGGCGGGGGCTGAACCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCTCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCACCTCCCTCCCAGACGGGGCGGCTAGCCTGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGAGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCAGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGGCA GAGGGGATCCTCACTTCACAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGGGGAGACTGACCCCCCCCCACCTC CCTCCCAGATGGTGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGC	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	4/27			chr3	TogoVar
AVEN_chr15_33861227_34044204	33894705	C C	CAGGCTGA others(792): Show CAGGCTGAGGCAGGAGAATTGCTTGAACTTGGGAGGCGGAGGTTGCAGTC AGCTGAGATCGCGACACTGCACTCCAGTCCGGGTGACAGAGTGAGACTCC GTCTCCAAAAAAAAAAAAAGAAAAAAAAAATCATCAAGTCTGTCAAATGC AGTTTTCCCCTATGGGTGGCTCTTCAAGATTCACACTTTAACATAACGCT AAGGTTTGGGTATATTTTATTCTTGACATATATTCCTAAAATTGGAATTA CTGGGTACAGGAATAAAATTTAGTTTGAAACTATTTGTTATGTTACTCTA TAGATCTGCTGAAACATAGATCCAACGTGCAAATTCCATTCATAACATTC TCATCCACTTTTACACAAATGTGTGTTAAATGCCTACTATGTGTCAGATT AGAAGCTAGTGATACAGAATGTTATCCAAAGTCCCTGCTCTCATGGAATT ACTACTACTTAAATGTCTACTAAAGGGAGAAGAAAATTTAAATGAATCAC CTAGTTCCTGAAAGCCCTATCAATAACTTTTGTATTTACATACACAATTG TATTAAAAGTGTTATTATTTATTAAGTATATTAAGAAGTACAAGCCCTTC TACTTATTAAAATAATAGAATGTGGCCGGGCTTGGTGGCTCACACGTGTA ATCCCAGCACTTTGGGAGCCTGAGGCGGGCGGATCACAAGGTCAGGAGAT CAAGACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGTGCAGTGGCGGGCACCCGTAGTCCCAGCTACTTGGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01192.hp2 HG02602.hp1 HG01069.hp2 HG01192.hp2 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0001 a0003c0003t0003g0013 a0003c0003t0003g0014	3	266	0.0113	799	c.446 others(818): Show c.446-18711_446-18710insCCCAAGTAGCTGGGACTACGGGTGCC CGCCACTGCACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ATCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGC CTCAGGCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACCAAGCCCGGC CACATTCTATTATTTTAATAAGTAGAAGGGCTTGTACTTCTTAATATACT TAATAAATAATAACACTTTTAATACAATTGTGTATGTAAATACAAAAGTT ATTGATAGGGCTTTCAGGAACTAGGTGATTCATTTAAATTTTCTTCTCCC TTTAGTAGACATTTAAGTAGTAGTAATTCCATGAGAGCAGGGACTTTGGA TAACATTCTGTATCACTAGCTTCTAATCTGACACATAGTAGGCATTTAAC ACACATTTGTGTAAAAGTGGATGAGAATGTTATGAATGGAATTTGCACGT TGGATCTATGTTTCAGCAGATCTATAGAGTAACATAACAAATAGTTTCAA ACTAAATTTTATTCCTGTACCCAGTAATTCCAATTTTAGGAATATATGTC AAGAATAAAATATACCCAAACCTTAGCGTTATGTTAAAGTGTGAATCTTG AAGAGCCACCCATAGGGGAAAACTGCATTTGACAGACTTGATGATTTTTT TTTTCTTTTTTTTTTTTTGGAGACGGAGTCTCACTCTGTCACCCGGACTG GAGTGCAGTGTCGCGATCTCAGCTGACTGCAACCTCCGCCTCCCAAGTTC AAGCAATTCTCCTGCCTCAGCCT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33894705	C C	CAGGCTGA others(792): Show CAGGCTGAGGCAGGAGAATTGCTTGAACTTGGGAGGCGGAGGTTGCAGTC AGCTGAGATCGCGACACTGCACTCCAGTCCGGGTGACAGAGTGAGACTCC GTCTCCAAAAAAAAAAAAAGAAAAAAAAAATCATCAAGTCTGTCAAATGC AGTTTTCCCCTATGGGTGGCTCTTCAAGATTCACACTTTAACATAACGCT AAGGTTTGGGTATATTTTATTCTTGACATATATTCCTAAAATTGGAATTA CTGGGTACAGGAATAAAATTTAGTTTGAAACTATTTGTTATGTTACTCTA TAGATCTGCTGAAACATAGATCCAACGTGCAAATTCCATTCATAACATTC TCATCCACTTTTACACAAATGTGTGTTAAATGCCTACTATGTGTCAGATT AGAAGCTAGTGATACAGAATGTTATCCAAAGTCCCTGCTCTCATGGAATT ACTACTACTTAAATGTCTACTAAAGGGAGAAGAAAATTTAAATGAATCAC CTAGTTCCTGAAAGCCCTATCAATAACTTTTGTATTTACATACACAATTG TATTAAAAGTGTTATTATTTATTAAGTATATTAAGAAGTACAAGCCCTTC TACTTATTAAAATAATAGAATGTGGCCGGGCTTGGTGGCTCACACGTGTA ATCCCAGCACTTTGGGAGCCTGAGGCGGGCGGATCACAAGGTCAGGAGAT CAAGACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGTGCAGTGGCGGGCACCTGTAGTCCCAGCTACTTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19240.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011	a0001c0001 a0001c0012 a0002c0002 others(7): Show a0001c0001 a0001c0012 a0002c0002 a0003c0003 a0004c0004 a0005c0007 a0006c0006 a0008c0009 a0010c0011 a0011c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0012t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0003 a0004c0004t0001 a0005c0007t0003 a0006c0006t0002 a0008c0009t0002 a0010c0011t0001 a0011c0008t0001	a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0032 others(184): Show a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0108 a0001c0001t0002g0172 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0192 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0012t0001g0164 a0002c0002t0001g0051 a0002c0002t0001g0058 a0002c0002t0001g0062 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0219 a0002c0002t0001g0233 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0257 a0003c0003t0001g0263 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0011 a0003c0003t0003g0012 a0003c0003t0003g0015 a0004c0004t0001g0018 a0004c0004t0001g0019 a0005c0007t0003g0006 a0005c0007t0003g0009 a0005c0007t0003g0010 a0006c0006t0002g0061 a0006c0006t0002g0063 a0006c0006t0002g0234 a0008c0009t0002g0021 a0010c0011t0001g0044 a0011c0008t0001g0017	187	266	0.7030	799	c.446 others(818): Show c.446-18711_446-18710insCCCAAGTAGCTGGGACTACAGGTGCC CGCCACTGCACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ATCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGC CTCAGGCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACCAAGCCCGGC CACATTCTATTATTTTAATAAGTAGAAGGGCTTGTACTTCTTAATATACT TAATAAATAATAACACTTTTAATACAATTGTGTATGTAAATACAAAAGTT ATTGATAGGGCTTTCAGGAACTAGGTGATTCATTTAAATTTTCTTCTCCC TTTAGTAGACATTTAAGTAGTAGTAATTCCATGAGAGCAGGGACTTTGGA TAACATTCTGTATCACTAGCTTCTAATCTGACACATAGTAGGCATTTAAC ACACATTTGTGTAAAAGTGGATGAGAATGTTATGAATGGAATTTGCACGT TGGATCTATGTTTCAGCAGATCTATAGAGTAACATAACAAATAGTTTCAA ACTAAATTTTATTCCTGTACCCAGTAATTCCAATTTTAGGAATATATGTC AAGAATAAAATATACCCAAACCTTAGCGTTATGTTAAAGTGTGAATCTTG AAGAGCCACCCATAGGGGAAAACTGCATTTGACAGACTTGATGATTTTTT TTTTCTTTTTTTTTTTTTGGAGACGGAGTCTCACTCTGTCACCCGGACTG GAGTGCAGTGTCGCGATCTCAGCTGACTGCAACCTCCGCCTCCCAAGTTC AAGCAATTCTCCTGCCTCAGCCT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33894705	C C	CAGGCTGA others(792): Show CAGGCTGAGGCAGGAGAATTGCTTGAACTTGGGAGGCGGAGGTTGCAGTC AGCTGAGATCGCGACACTGCACTCCAGTCCGGGTGACAGAGTGAGACTCC GTCTCCAAAAAAAAAAAAAGAAAAAAAAAATCATCAAGTCTGTCAAATGC AGTTTTCCCCTATGGGTGGCTCTTCAAGATTCACACTTTAACATAACGCT AAGGTTTGGGTATATTTTATTCTTGACATATATTCCTAAAATTGGAATTA CTGGGTACAGGAATAAAATTTAGTTTGCAACTATTTGTTATGTTACTCTA TAGATCTGCTGAAACATAGATCCAACGTGCAAATTCCATTCATAACATTC TCATCCACTTTTACACAAATGTGTGTTAAATGCCTACTATGTGTCAGATT AGAAGCTAGTGATACAGAATGTTATCCAAAGTCCCTGCTCTCATGGAATT ACTACTACTTAAATGTCTACTAAAGGGAGAAGAAAATTTAAATGAATCAC CTAGTTCCTGAAAGCCCTATCAATAACTTTTGTATTTACATACACAATTG TATTAAAAGTGTTATTATTTATTAAGTATATTAAGAAGTACAAGCCCTTC TACTTATTAAAATAATAGAATGTGGCCGGGCTTGGTGGCTCACACGTGTA ATCCCAGCACTTTGGGAGCCTGAGGCGGGCGGATCACAAGGTCAGGAGAT CAAGACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGTGCAGTGGCGGGCACCTGTAGTCCCAGCTACTTGGG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA19082.hp1 NA18953.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0232 a0002c0002t0001g0239 a0001c0001t0002g0232 a0002c0002t0001g0239	2	266	0.0075	799	c.446 others(818): Show c.446-18711_446-18710insCCCAAGTAGCTGGGACTACAGGTGCC CGCCACTGCACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ATCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGC CTCAGGCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACCAAGCCCGGC CACATTCTATTATTTTAATAAGTAGAAGGGCTTGTACTTCTTAATATACT TAATAAATAATAACACTTTTAATACAATTGTGTATGTAAATACAAAAGTT ATTGATAGGGCTTTCAGGAACTAGGTGATTCATTTAAATTTTCTTCTCCC TTTAGTAGACATTTAAGTAGTAGTAATTCCATGAGAGCAGGGACTTTGGA TAACATTCTGTATCACTAGCTTCTAATCTGACACATAGTAGGCATTTAAC ACACATTTGTGTAAAAGTGGATGAGAATGTTATGAATGGAATTTGCACGT TGGATCTATGTTTCAGCAGATCTATAGAGTAACATAACAAATAGTTGCAA ACTAAATTTTATTCCTGTACCCAGTAATTCCAATTTTAGGAATATATGTC AAGAATAAAATATACCCAAACCTTAGCGTTATGTTAAAGTGTGAATCTTG AAGAGCCACCCATAGGGGAAAACTGCATTTGACAGACTTGATGATTTTTT TTTTCTTTTTTTTTTTTTGGAGACGGAGTCTCACTCTGTCACCCGGACTG GAGTGCAGTGTCGCGATCTCAGCTGACTGCAACCTCCGCCTCCCAAGTTC AAGCAATTCTCCTGCCTCAGCCT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
CAPN11_chr6_44153820_44189401	44181824	C C	CCACACTC others(792): Show CCACACTCACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACACACACACTCACATACAGACACAACCACACCACACACAC ACACACACACATACAGACACAACCACACCACACACACACATACACACTCA CATACAGACAACCACACCACACTCACACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACACATACACACTCACATACAGA CACAACCACACCACACACACACACACATACAGACACAACCACACCACACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAC ACACGCTCACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACCACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACTCACATACAGACACAACC ACACCACACACACACACACTCACATACAGACACAACCACACCACACTCAC ACATACACACATACAGACACAACCACACCACACTCACACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACAGACACAACCACACCACAC ACACACACACACTCACATACAGACACAACCACACCACACACACACACACA CAGACACAACCACACCACACACACACACCCAACCACACCACACTCACACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0374 a0008c0008t0002g0374	1	460	0.0022	799	c.193 others(816): Show c.1938+509_1938+510insTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACACACACACTCACATACAGACACA ACCACACCACACACACACACACACACATACAGACACAACCACACCACACA CACACATACACACTCACATACAGACAACCACACCACACTCACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACACATA CACACTCACATACAGACACAACCACACCACACACACACACACATACAGAC ACAACCACACCACACACACACATACACACTCACATACAGACACAACCACA CCACACTCACACACACACACGCTCACATACAGACACAACCACACCACACT CACACACACACACTCACATACAGACACAACCACACCACACCACACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACACTC ACATACAGACACAACCACACCACACACACACACACTCACATACAGACACA ACCACACCACACTCACACATACACACATACAGACACAACCACACCACACT CACACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACAGA CACAACCACACCACACACACACACACACTCACATACAGACACAACCACAC CACACACACACACACACAGACACAACCACACCACACACACACACCCAACC ACACCACACTCACACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(792): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	336	0.0030	799	c.248 others(816): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGT CGCCCATGCTGGAGTGCAGTG	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(792): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGGAGGGAGGAAGGGG CGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAATA AATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTAT AATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTTA ACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGTG AAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGAA GGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAATATCCTAGAGGCA GAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGTG AGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTCA TAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACGT TAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCTA TAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 NA18947.hp1 others(13): Show HG00423.hp1 HG00673.hp1 NA18947.hp1 NA18960.hp2 NA18966.hp2 NA18970.hp1 NA18973.hp1 NA18982.hp1 NA18985.hp2 NA18987.hp1 NA18995.hp1 NA18998.hp1 NA19007.hp2 NA19058.hp2 NA19060.hp1 NA19085.hp1	a0002 a0014 a0002 a0014	a0002c0003 a0014c0012 a0002c0003 a0014c0012	a0002c0003t0003 a0002c0003t0007 a0002c0003t0029 others(1): Show a0002c0003t0003 a0002c0003t0007 a0002c0003t0029 a0014c0012t0051	a0002c0003t0003g0002 a0002c0003t0003g0012 a0002c0003t0003g0014 others(13): Show a0002c0003t0003g0002 a0002c0003t0003g0012 a0002c0003t0003g0014 a0002c0003t0003g0015 a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0019 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0067 a0002c0003t0007g0013 a0002c0003t0007g0018 a0002c0003t0007g0025 a0002c0003t0007g0027 a0002c0003t0029g0026 a0014c0012t0051g0002	16	336	0.0476	799	c.248 others(816): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATTTTTTTTTTTT TTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGT CGCCCATGCTGGAGTGCAGTG	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(792): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGGAGGGAGGAAGGGG CGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAATA AATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTAT AATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTTA ACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGTG AAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGAA GGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAATATCCTAGAGGCA GAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGTG AGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTCA TAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACGT TAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCTA TAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT TTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG02071.hp2 others(5): Show HG00408.hp2 HG00621.hp1 HG02071.hp2 HG02074.hp1 HG02155.hp1 HG03669.hp1 HG03688.hp2 NA19076.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0007 a0002c0003t0029 others(1): Show a0002c0003t0003 a0002c0003t0007 a0002c0003t0029 a0002c0003t0059	a0002c0003t0003g0039 a0002c0003t0003g0070 a0002c0003t0003g0073 others(5): Show a0002c0003t0003g0039 a0002c0003t0003g0070 a0002c0003t0003g0073 a0002c0003t0003g0076 a0002c0003t0003g0126 a0002c0003t0007g0020 a0002c0003t0029g0071 a0002c0003t0059g0075	8	336	0.0238	799	c.248 others(816): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATTTTTTTTTTTTTT TTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGT CGCCCATGCTGGAGTGCAGTG	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(792): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGGAGGGAGGAAGGGG CGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAATA AATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTAT AATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTTA ACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGTG AAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGAA GGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAATATCCTAGAGGCA GAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGTG AGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTCA TAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACGT TAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCTA TAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04228.hp1 HG03239.hp2 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0050 a0002c0003t0003g0072 a0002c0003t0003g0050 a0002c0003t0003g0072	2	336	0.0060	799	c.248 others(816): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGT CGCCCATGCTGGAGTGCAGTG	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(792): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	204	0.0049	799	c.223 others(820): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTCCAGATTTATGGTTTTTATTACATAAGGTAAAAATA TTACAGATACGGAAAAATTAATTCATTCAACAATAATTCAATTTACAGAA TTACAGATTATGTTTCCAGTTTACTGCCTATTATAGTCTGGAATACAGTA TTTGATGCTACCAGTCTTTGGCATCTTGTAACATTCTGTCAATTAATTGG CCAAATAATGCTAGGTCTCCATTTTAACCTGATTATCTGGAATTAATATT TCTCCATATTTTCACTAATGACTTTCAAACTAGTTGACTGATTTTTGCCT AAAGAAAATCACGATACTTCTTTAGTTTTACTTTTTGTTTGTAACTTAAA AAGGGAAGGACAATTGTCACATTTTAAAGAATGTAATAAAATGTCATACC TGACGTAGCAAATTGTATTTTTCAAAAATAACTACAACAATATATCCCAT CCCACATGCTCTTCCAAAACTTTGCCACTCACCCTCAAGAGGTGGGGGTT ATGTCCCTTCCCCTTAATTTGTGTGTCATTAGACTGACACACGTGATAGA CAACACTGTATAACTTCCAAGCCTGGGTCTTAAGAGGCAATACGGTCCTT GAGTCACTTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGAAGCCTGGGC TACATGAAGAGACCCACATGGAGAGGAATGAAGTTCCTATCTCTCAATCC AGGCTGAGCTCCCAGCCAATAACCAGTGCCTGTGAGTGATCCCTCTTGGA GAGGGGTCGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(792): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCCACCCCACCCACC GACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCT GTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAG GAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGG ATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAAATTAAAAAA AGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGG TAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGC TCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCAT GAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAG ATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAG CAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCC ACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAA CTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGG CCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAA CTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	410	0.0024	799	c.138 others(818): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TTTGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATC GTAGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTC AGCCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAA TTTTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGGGTC TCACTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTC CTGCCTTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(792): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCCCACCCCACCCAC CGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACC TGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCA GGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTG GATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAAA AGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGG TAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGC TCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCAT GAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAG ATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAG CAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCC ACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAA CTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGG CCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAA CTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	410	0.0024	799	c.138 others(818): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TTGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCG TAGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCA GCCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAAT TTTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGGGGTC TCACTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTC CTGCCTTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(792): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCCCCACCCCACCCA CCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACAC CTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCC AGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGT GGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAATTAAAAAA AGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGG TAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGC TCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCAT GAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAG ATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAG CAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCC ACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAA CTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGG CCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAA CTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0260 a0001c0003t0003g0260	1	410	0.0024	799	c.138 others(818): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGT AGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAG CCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATT TTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGGGGGTC TCACTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTC CTGCCTTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(792): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCCCCCACCCCACCC ACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACA CCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCC CAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATG TGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAATTAAAAAA AGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGG TAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGC TCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCAT GAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAG ATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAG CAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCC ACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAA CTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGG CCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAA CTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18944.hp2 NA18945.hp2 others(4): Show HG00609.hp1 NA18944.hp2 NA18945.hp2 NA18952.hp2 NA18989.hp1 NA18999.hp2 NA19087.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0250 a0001c0003t0003g0261 a0001c0003t0003g0270 others(4): Show a0001c0003t0003g0250 a0001c0003t0003g0261 a0001c0003t0003g0270 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0279 a0001c0003t0003g0284	7	410	0.0171	799	c.138 others(818): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT GGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGTA GCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAGC CTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATTT TTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGGGGGGTC TCACTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTC CTGCCTTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(792): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCCACCCCACCCACC GACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCT GTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAG GAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGG ATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAAATTAAAAAA AGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGG TAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGC TCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCAT GAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAG ATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAG CAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCC ACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAA CTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGG CCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAA CTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01981.hp2 HG01261.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0283 a0001c0001t0001g0007 a0001c0001t0001g0283	2	382	0.0052	799	c.65 others(810): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CCCACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTG TGGTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGG ATCGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCAC TGCACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAA AAAAAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTT TTTTATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGT CTTGAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGC TGGGATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTT ATTATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTA ACTCCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGA TTACAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAG TAGCTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGG ACCAAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGAT TCCATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCT CACACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(792): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCCCACCCCACCCAC CGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACC TGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCA GGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTG GATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAAA AGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGG TAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGC TCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCAT GAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAG ATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAG CAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCC ACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAA CTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGG CCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAA CTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	382	0.0026	799	c.65 others(810): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CCCCACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGT GTGGTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAG GATCGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCA CTGCACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAA AAAAAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTT TTTTATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGT CTTGAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGC TGGGATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTT ATTATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTA ACTCCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGA TTACAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAG TAGCTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGG ACCAAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGAT TCCATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCT CACACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(792): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCCCCCACCCCACCC ACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACA CCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCC CAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATG TGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAATTAAAAAA AGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGG TAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGC TCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCAT GAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAG ATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAG CAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCC ACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAA CTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGG CCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAA CTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 NA18944.hp2 NA18945.hp1 others(4): Show HG00609.hp1 NA18944.hp2 NA18945.hp1 NA18952.hp2 NA18989.hp1 NA18999.hp1 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0014 a0002c0002t0003g0032 a0002c0002t0003g0189 others(2): Show a0002c0002t0003g0014 a0002c0002t0003g0032 a0002c0002t0003g0189 a0002c0002t0003g0194 a0002c0002t0003g0198	7	382	0.0183	799	c.65 others(810): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CCCCCCACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGG GTGTGGTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGG AGGATCGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTC CACTGCACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAA AAAAAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTT TTTTATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGT CTTGAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGC TGGGATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTT ATTATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTA ACTCCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGA TTACAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAG TAGCTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGG ACCAAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGAT TCCATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCT CACACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CNOT3_chr19_54132762_54160681	54133730	T T	TCCTCTCT others(792): Show TCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCT TCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTC TCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTT CCCTCTCTCCACCTCCCCTCCCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCCC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	223	0.0045	799	c.-43 others(810): Show c.-4314_-4313insCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTC CACCTCCCCTCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTC CCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTTCCTCCCT CTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCAC CTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTC TCCACCTCCCCTCCCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT TCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4031		chr19	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(792): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCA CCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACC CGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCG CACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCA CCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACC CGCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCTC CACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCA CCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACC CGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCCCACCCC CACCTCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCA CCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACC CCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCGCACCCC CACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCCCCACCCCCA CCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGCACCCGCACC CCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	320	0.0031	799	c.39 others(810): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGAGGTGGGGGTGGGGGTGGGGGTGGAGGTGGGGGTGGGGG TGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGG TGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGG GTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DNAAF4_chr15_55425308_55513234	55446361	A A	ACTCCTCA others(792): Show ACTCCTCACATCCCAGATGATGGGCGGCCGGGCAGAGGCGCTCCTCACTT CCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACTTCCCAGATGGGGTG GCGGTCGGGCAGAGGTGCTCCTCACATCCTAGACGGGGTGGCCAGGCAGA GGTGCTCCTCACTTCCCAGACCGGGTGGCCGGGCAGAGGCGCTCCTCACA TCCCAGATGAAGGGCAGCCAGGCAGAGGCGCTCCTCACCTTCCAGACAGG GCGGCCGAGCAGAGGCGCACCCTGCTTCCCAGATGGGGTGGCGGCCGGGC AGAGGCGCTCCTCACATCCCAGACGGGGTGGCCGGGCAGAGGCGCTCCTC ACTTCCTAGACGGGGCAGCCGGGCAGAGACACTCCTCACATCCCAGACAG GGTGGTGGCCAGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCCGGG CAGAGGCGCTCCTCACATCCCTGATGGGGTGGCCGGGCAGAGGTGCTCCT CACATCCCAGACGGGCCGGCTGGGCAGAGGTGCTCCCCACTTCCCAGACG GGGGTGGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGATGATGGGCGGC CGGGCAGAGGCGCTCCCCACTTCCCAGACGGGGCAGCTGGGCAGAGGCGC TCCCCACTTCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCTCACTTCCCA GATGGGGCAGCTGACGGGCAGAGGTGCTCCTCACTTCCCAGATGGGGCGG CTGCGCAGAGGCACTCCTCACTTCCCAGACGGGGTGGCCAGGCAGAGGCG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	338	0.0030	799	c.783 others(816): Show c.783+3860_783+3861insCGCCTCTGCCTGGCCACCCCGTCTGGGA AGTGAGGAGTGCCTCTGCGCAGCCGCCCCATCTGGGAAGTGAGGAGCACC TCTGCCCGTCAGCTGCCCCATCTGGGAAGTGAGGAGCGCCTCTGCCCGGC TGCCCCGTCTGGGAAGTGGGGAGCGCCTCTGCCCAGCTGCCCCGTCTGGG AAGTGGGGAGCGCCTCTGCCCGGCCGCCCATCATCTGGGATGTGAGGAGC GCCTCTGCCTGGCCGCCACCCCCGTCTGGGAAGTGGGGAGCACCTCTGCC CAGCCGGCCCGTCTGGGATGTGAGGAGCACCTCTGCCCGGCCACCCCATC AGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCATCTGGGATGTGAGGA GCGCCTCTGCCTGGCCACCACCCTGTCTGGGATGTGAGGAGTGTCTCTGC CCGGCTGCCCCGTCTAGGAAGTGAGGAGCGCCTCTGCCCGGCCACCCCGT CTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCACCCCATCTGGGAAGCA GGGTGCGCCTCTGCTCGGCCGCCCTGTCTGGAAGGTGAGGAGCGCCTCTG CCTGGCTGCCCTTCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCACCC GGTCTGGGAAGTGAGGAGCACCTCTGCCTGGCCACCCCGTCTAGGATGTG AGGAGCACCTCTGCCCGACCGCCACCCCATCTGGGAAGTGGGGAGCGCCT CTGCCCGGCCGCCCCGTCTGGGAAGTGAGGAGCGCCTCTGCCCGGCCGCC CATCATCTGGGATGTGAGGAG	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	6/9			chr15	TogoVar
DOK7_chr4_3458306_3499482	3476128	T T	TCATGATG others(792): Show TCATGATGCCCTCTCACCCCCGCCTGCCCATGATGCCCTCACCCCACCCG CCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCC CATGATGCCCTCACCCCACCCGTCCATGATGCCCTCTCACCCCACCCGCC CATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCA TGATGCCCTCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCC CATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCA TGATGCCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCG TGATGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCATG ATGCCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCGTG ATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCGTG ATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGAT GCCCTCACCCCACCCGCCCGTGATGACCTCTCGCCCCACCCGCCCATGAT GCCCTCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCGTGAT GACCTCTCGCCCCGCCTGCCCGTGATGCCCTCTCACCCCACCTGCCCATG ATGCCCTCTCACCCCACCTGCCCATGATGCCCTCTCACCCCGCCTGCCCA TGATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCTCACCCCGCCTGCC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0095 a0003c0003t0004g0095	1	404	0.0025	799	c.332 others(814): Show c.332-200_332-199insACCCCCGCCTGCCCATGATGCCCTCACCCC ACCCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCAC CCGCCCATGATGCCCTCACCCCACCCGTCCATGATGCCCTCTCACCCCAC CCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCC GCCCATGATGCCCTCTCACCCCACCCGCCCATGATGCCCTCTCACCCCAC CCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCC GCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCC GCCCGTGATGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGC CCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGC CCGTGATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGC CCGTGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGCCCGTGATGACCTCTCGCCCCACCCGCCC ATGATGCCCTCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCC GTGATGACCTCTCGCCCCGCCTGCCCGTGATGCCCTCTCACCCCACCTGC CCATGATGCCCTCTCACCCCACCTGCCCATGATGCCCTCTCACCCCGCCT GCCCATGATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCTCACCCCGC CTGCCCATGATGCCCTCTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
EHMT1_chr9_137614005_137841127	137716419	T T	TTGGTGTC others(792): Show TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGGAGGAAGTTGTGTTGGTGTCATGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGGAGGAAGTTGTGTTGGTGTCATGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG TCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0160 a0007c0012t0001g0160	1	170	0.0059	799	c.86- others(812): Show c.86-132_86-131insGAGGAAGTTGTGTTGGTGTCATGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGA GGAAGTTGTGTTGGTGTCATGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3331228	T T	TAGTGTCA others(792): Show TAGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAG AGGCAGGTGTGTATACACCCATGAGATGGTGTGAGCAGAGGCAGGTGTGT ATACACCCATGAGATGGTGTGAGCAGAGGCAGGTGTGTATACACCCATGA GATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGC AGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGT GTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCAT GAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCA GCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGT GTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCC ATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGT CAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAG GTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACAC CCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGT GTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGC AGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATAC ACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	250	0.0040	799	c.259 others(816): Show c.259+6788_259+6789insCATCTCATGGGTGTATACACACCTGCCT CTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCA TCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGT ATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGC CTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACAC CATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGT GTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCT GCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGAC ACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGG GTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACAC CTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTG ACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCAT GGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACAC ACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGC TCACACCATCTCATGGGTGTATACACACCTGCCTCTGCTCACACCATCTC ATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATAC ACACCTGCCTCTGCTGACACT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331228	T T	TAGTGTCA others(792): Show TAGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAG AGGCAGGTGTGTATACACCCATGAGATGGTGTGAGCAGAGGCAGGTGTGT ATACACCCATGAGATGGTGTGAGCAGAGGCAGGTGTGTATACACCCATGA GATGGTGTGAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGC AGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGT GTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCAT GAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCA GCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGT GTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCC ATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGT CAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAG GTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACAC CCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGT GTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGC AGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATAC ACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03704.hp2 HG01192.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0079 a0001c0001t0001g0080	2	250	0.0080	799	c.259 others(816): Show c.259+6788_259+6789insCATCTCATGGGTGTATACACACCTGCCT CTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCA TCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGT ATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGC CTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACAC CATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGT GTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCT GCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGAC ACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGG GTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACAC CTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTG ACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCAT GGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACAC ACCTGCCTCTGCTCACACCATCTCATGGGTGTATACACACCTGCCTCTGC TCACACCATCTCATGGGTGTATACACACCTGCCTCTGCTCACACCATCTC ATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATAC ACACCTGCCTCTGCTGACACT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
F2_chr11_46714213_46744506	46721842	T T	TTTTTTTT others(792): Show TTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCTAGGCTGG AGTGCAGCAGCGCGATCTCGGCTCGCTGCAACCTCCGCCTAGCGGATTCA AGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCACACA CTACCATGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCA CCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACC TCGGCCTCAAAGTGCTGGGATTATAGAAGTGAGCCACCGCGCCTGGCCAT GAATTCATGTTTAAGGCTTCATTCTCCTTTGCCTGACCCGAGTCTCTGCC CCCACCTAGTCAGAGCTTTGATGATGTCACATTCCCCTTCTAGCTTTAGG TGTCACTGAACCAAACAGGAACCCAAACCCCCAGCTGCTCTGACACCAAG GACTTCCCTAAGCATGCCAAGGTGTTTCTAGCACCTGGCCTTGCATATGT TGTCAATTTCCTCTGGAGCGACCATCACATCTACTGAACACTTTCCTATC CTTCAAGGACTGCTTCAAATGTCACCACTTTTGCTGAGACTTCAGGGAGC ACCCTCCCTCCTGCACTGTGTTCTGAAGGCACCTTTAGCACGACAAAAAT GGAACCCTTTGTTTATTTATAAGAGACAGGGTCTCCCTTTTTTGCCCAGG CTGATCTTGAACTCCTGGGCTCAGGCAATTCTCCCATCTCAGTCTCCCAA AGGAGTAGGATTATAAGTGTGAGCCACCATGCCTGGCTGCCATACTTTCA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	350	0.0029	799	c.316 others(816): Show c.316+1019_316+1020insGAGGTGGAGTCTCACTCTGTCGCCTAGG CTGGAGTGCAGCAGCGCGATCTCGGCTCGCTGCAACCTCCGCCTAGCGGA TTCAAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCA CACACTACCATGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGT TTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACC CACCTCGGCCTCAAAGTGCTGGGATTATAGAAGTGAGCCACCGCGCCTGG CCATGAATTCATGTTTAAGGCTTCATTCTCCTTTGCCTGACCCGAGTCTC TGCCCCCACCTAGTCAGAGCTTTGATGATGTCACATTCCCCTTCTAGCTT TAGGTGTCACTGAACCAAACAGGAACCCAAACCCCCAGCTGCTCTGACAC CAAGGACTTCCCTAAGCATGCCAAGGTGTTTCTAGCACCTGGCCTTGCAT ATGTTGTCAATTTCCTCTGGAGCGACCATCACATCTACTGAACACTTTCC TATCCTTCAAGGACTGCTTCAAATGTCACCACTTTTGCTGAGACTTCAGG GAGCACCCTCCCTCCTGCACTGTGTTCTGAAGGCACCTTTAGCACGACAA AAATGGAACCCTTTGTTTATTTATAAGAGACAGGGTCTCCCTTTTTTGCC CAGGCTGATCTTGAACTCCTGGGCTCAGGCAATTCTCCCATCTCAGTCTC CCAAAGGAGTAGGATTATAAGTGTGAGCCACCATGCCTGGCTGCCATACT TTCATTTTTTTTTTTTTTTTT	F2	ENSG00000180210.15	transcript	ENST00000311907.10	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(792): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02055.hp1 HG02109.hp1 others(10): Show HG01257.hp1 HG02055.hp1 HG02109.hp1 HG02523.hp2 HG02647.hp2 HG03492.hp2 HG04184.hp2 NA18960.hp2 NA18994.hp1 NA19004.hp2 NA19060.hp2 NA19062.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0064 a0001c0001t0001g0189 a0001c0001t0001g0193 others(10): Show a0001c0001t0001g0064 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0306 a0001c0004t0002g0105 a0001c0004t0002g0110	13	346	0.0376	799	c.-76 others(816): Show c.-76-2704_-76-2703insGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAA AGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGG AACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAAC GTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTG GCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCG CAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAA GTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATATA others(792): Show TATATATAAATATATAAATATATATGAATATATAAATATATATAAATATA TAAATATATAAATAAAAATATATAAAAATATATACATATATAAATATAAA TATATAATATATAAATATATAAATATAAATATATAAAAATATATAAATAT ATAAAAATATATAAATATATAAAAATATATAAATATATAAATATATATAA ATATATAAATATATAAATATATAAATATATAAATATATATAAATATATAA ATATATAAATATATAAATATATATAAATATATAAATATATAAATATATAA AAATATATAAATACATAAATATATAAATATATAAATATATAAATATATAA ATATATATAAGTACATATAAATATATATACATAAATATATAAATATATAA ATATATAAATATATAAATACATAATATATATAAATATAAAATATATATAA TATATAAAATATATTAAAAATATAAAAATATATATAAAAAAATATATAAA TATATAAAAATATATAAAAAATATATACACATATAAATATATATAAAAAT ATATAAATATATAAAAAAATATATAAATATATATTATATATAAATATATA TAAATATATAAATATATATAAATATATACAATATATAAATATATATAAAT ATATACAATATATAAATATATATAAATATATACAATATATAAATATATAT AAATATATACAATATATAAATATATATAAATATATATAATATATAAATAT ATATAAATATATAAATATATATAAATATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	344	0.0029	799	c.617 others(816): Show c.617-1534_617-1533insTATATATATTTATATATTATATATATTT ATATATATTTATATATTTATATATATTTATATATTATATATATTTATATA TATTTATATATTGTATATATTTATATATATTTATATATTGTATATATTTA TATATATTTATATATTGTATATATTTATATATATTTATATATTGTATATA TTTATATATATTTATATATTTATATATATTTATATATAATATATATTTAT ATATTTTTTTATATATTTATATATTTTTATATATATTTATATGTGTATAT ATTTTTTATATATTTTTATATATTTATATATTTTTTTATATATATTTTTA TATTTTTAATATATTTTATATATTATATATATTTTATATTTATATATATT ATGTATTTATATATTTATATATTTATATATTTATATATTTATGTATATAT ATTTATATGTACTTATATATATTTATATATTTATATATTTATATATTTAT ATATTTATGTATTTATATATTTTTATATATTTATATATTTATATATTTAT ATATATTTATATATTTATATATTTATATATTTATATATATTTATATATTT ATATATTTATATATTTATATATTTATATATATTTATATATTTATATATTT TTATATATTTATATATTTTTATATATTTATATATTTTTATATATTTATAT TTATATATTTATATATTATATATTTATATTTATATATGTATATATTTTTA TATATTTTTATTTATATATTTATATATTTATATATATTTATATATTCATA TATATTTATATATTTATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(792): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATAAATATATATAA GTACATATAAATATATATACATAAATATATAAATATATAAATATATAAAT ATATAAATACATAATATATATAAATATAAAATATATATAATATATAAAAT ATATTAAAAATATAAAAATATATATAAAAAATATATAAATATATAAAAAT ATATAAAAAATATATACACATATAAATATATATAAAAATATATAAATATA TATTATATATAAATATATAATATATAAATATATATAAATATATAAATATA TATAAATATATACAATATATAAATATATATAAATATATACAATATATAAA TATATATATACAATATATAAATATATATAAATATATACAATATATAAATA TATATAAATATATACAATATATAAATATATATAAATATATACAATATATA AATATATATAAATATATACAATATATAAATATATATAAATATATAAATAT ATATAAATATATATAATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	344	0.0029	799	c.617 others(816): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATGTGTATATATTTTTTATATATTTTTATATATTTATATATTTTTTATA TATATTTTTATATTTTTAATATATTTTATATATTATATATATTTTATATT TATATATATTATGTATTTATATATTTATATATTTATATATTTATATATTT ATGTATATATATTTATATGTACTTATATATATTTATATATTTATATATTT ATATATTTATATATTTATGTATTTATATATTTTTATATATTTATATATTT ATATATTTATATATATTTATATATTTATATATTTATATATATTTATATAT ATTTATATATTTATATATTTTTATATATTTATATATTTTTATATATTTAT ATTTATATATTTATATATTTATATATTTATATATTATATATTTATATTTA TATATGTATATATTTTTATATATTTTTATTTATATATTTATATATTTATA TATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(792): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT ATTATATATTTTATATATAATATATATTTTATATATAATATATATATTTT ATATATAATATATATATTATATATCTTATATATATTATATAAAATATATA ATATATATCTTATATATATCATATATTTTATATAATATATATTTTATATA TATCATATATTTTATATATAATATATATTATATATACATTATATAATATA TATTATATTATATATATTATATATTATATAATATATATTATATATTATAC GTAATATATAATGTATATTATATATAATATATTATGTATATAATGTATAT TATATATAATATACATTATATATAATGTATATTACATATAATATACATTA TATATAATGTATATTACATATAATATACATTGTATATAATGTATATATTA CATATAATATACATTGTATATAATGTATATTATATGTAATATATACATTG TATATAATGTATATTATATGTAATATATACATTACATATAATGTATATTA TATGTAATATATACATTACATATAATGTATATTATATGTAATATATACAT TACATAATGTATATTATATGTAATATATACATTACATAATGTATATTATA TGTAATATATACATTATATAATATATACATTGTATATAATGTATATTATA TATAATATATACATTGTATATAATGTATATTATATATAATATATACATTG TATATAATGTATATTATATATAATATATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	350	0.0029	799	c.94- others(812): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATATTATATATTTTATATATAATATATATTTTATA TATAATATATATATTTTATATATAATATATATATTATATATCTTATATAT ATTATATAAAATATATAATATATATCTTATATATATCATATATTTTATAT AATATATATTTTATATATATCATATATTTTATATATAATATATATTATAT ATACATTATATAATATATATTATATTATATATATTATATATTATATAATA TATATTATATATTATACGTAATATATAATGTATATTATATATAATATATT ATGTATATAATGTATATTATATATAATATACATTATATATAATGTATATT ACATATAATATACATTATATATAATGTATATTACATATAATATACATTGT ATATAATGTATATATTACATATAATATACATTGTATATAATGTATATTAT ATGTAATATATACATTGTATATAATGTATATTATATGTAATATATACATT ACATATAATGTATATTATATGTAATATATACATTACATATAATGTATATT ATATGTAATATATACATTACATAATGTATATTATATGTAATATATACATT ACATAATGTATATTATATGTAATATATACATTATATAATATATACATTGT ATATAATGTATATTATATATAATATATACATTGTATATAATGTATATTAT ATATAATATATACATTGTATATAATGTATATTATATATAATATATACATT GTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(792): Show TGTTATGTGATATTCCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATT CCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGAGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCGCGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTG TGGCCGCGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGC GTGCGGCCGCGTTATATGACATTCTGGTGTGCTGGCGTGTGGCCGCGTTA TATGACATTCCATGTTATGTGACATTCCGGTGTGCTGGCGTGTGGCTGCG TTATATGACATTCCACGTTATGTGACATTCCGGTGTGCCGGCGTGTGGCC GCGTTATATGACATTCCAGTGTGCCGGCGTGTGGCCGCGTTATATGACAT TCCGGTGTGCCAGCGTGTGGCCGTGTTATATGACATTCCACGTTATGTGA CATTCCGGTGTGCTGGCGTGCGGCCGTGTTATATGACATTCCACGTTATG TGACATTCCGGTGTGCCGGCGTGCGGCCGCGTTACATGACATTCCACGTT ATGTGACATTCCGGTGTGCTGGCGTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0145 a0001c0002t0024g0145	1	242	0.0041	799	c.153 others(818): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATGTAACGCGGCC GCACGCCGGCACACCGGAATGTCACATAACGTGGAATGTCATATAACACG GCCGCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAAC ACGGCCACACGCTGGCACACCGGAATGTCATATAACGCGGCCACACGCCG GCACACTGGAATGTCATATAACGCGGCCACACGCCGGCACACCGGAATGT CACATAACGTGGAATGTCATATAACGCAGCCACACGCCAGCACACCGGAA TGTCACATAACATGGAATGTCATATAACGCGGCCACACGCCAGCACACCA GAATGTCATATAACGCGGCCGCACGCCAGCACACCGGAATGTCACATAAC GTGGAATGTCATATAACGCGGCCACACGCCAGCACACCGGAATGTCACAT AACGTGGAATGTCATATAACGCGGCCGCACGCCAGCACACCGGAATGTCA CATAACGTGGAATGTCATATAACGCGGCCACACGCCGGCACACCAGAATG TCATATAATGCGGCCACACGCCGGCACTCCGGAATGTCATATAACGTGGA ATGTCATATAACGTAGCCACACGCCAGCACACCAGAATGTCACATAACAT GGAATGTCATATAACACGGCCACACGCTGGCACACCGGAATGTCATATAA CGCGGCCACACGCCGGCACACCGGAATGTCATATAACGCGGCCACACGCC GGCACACCGGAATATCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33323165	A A	ATATATAT others(792): Show ATATATATATGTGGAATATATATGTGGAATATATATATGGAATATATATG TGGAATATATATATATGGAATATGTATATATGGAATATATATATATGGAA TATATATACATGGAATATATATACATGGAATATATATACATGGAATATAT ATACATGGAATATATATACATGGAATATATATACATGGAATATATATACA TGGAATATATATACATGGAATATATATACATGGAATATATATACATGGAA TATATATACATGGAATATATACATGGAATATATATACATGGAATATATAC ATGGAATGTATACATGGAATATATACACATGGAATGTATACATGGAATAT ATATACATGGAATGTATACATGGAATATATATATGGAATGTATACATATG GAATATATATATATGGAATGTATACATATGGAATATATATATGGAATGTA TACATATGGAATATATATATGGAATGTATACATATGGAATATATATATGG AATGTATACATATGGAATATATATATGGAATGTATATATATGGAATATAT ATATGGAATGTATATATATGGAATGTATATATATGGAATGTATATATATG GAATGTATATATATGGAATGTATATATATGGAATGTATATATATGGAATG TATATATATGGAATGTATATATATGGAATGTATATATATGGAATGTATAT ATATGGAATGTATATATATGGAATGTATATATATGGAATGTATATATATG GAATGTATATATATGGAATGTATATATATGGAATGTATATATATGGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	323	0.0031	799	c.-18 others(810): Show c.-1891_-1890insTATATATATGTGGAATATATATGTGGAATATATA TATGGAATATATATGTGGAATATATATATATGGAATATGTATATATGGAA TATATATATATGGAATATATATACATGGAATATATATACATGGAATATAT ATACATGGAATATATATACATGGAATATATATACATGGAATATATATACA TGGAATATATATACATGGAATATATATACATGGAATATATATACATGGAA TATATATACATGGAATATATATACATGGAATATATACATGGAATATATAT ACATGGAATATATACATGGAATGTATACATGGAATATATACACATGGAAT GTATACATGGAATATATATACATGGAATGTATACATGGAATATATATATG GAATGTATACATATGGAATATATATATATGGAATGTATACATATGGAATA TATATATGGAATGTATACATATGGAATATATATATGGAATGTATACATAT GGAATATATATATGGAATGTATACATATGGAATATATATATGGAATGTAT ATATATGGAATATATATATGGAATGTATATATATGGAATGTATATATATG GAATGTATATATATGGAATGTATATATATGGAATGTATATATATGGAATG TATATATATGGAATGTATATATATGGAATGTATATATATGGAATGTATAT ATATGGAATGTATATATATGGAATGTATATATATGGAATGTATATATATG GAATGTATATATATGGAATGTATATATATGGAATGTATATATATGGAATG TATATATATGGAATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1804		chr21	TogoVar
IQSEC3_chr12_61767_183455	163272	C C	CCCTCCCT others(792): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGA ACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCC CCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCG GAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTC CCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGC CCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTC CACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTC CCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0176	1	282	0.0036	799	c.258 others(816): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAG AACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCAC AGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCCTCCCCTC TCCTCCCTCCACAGAACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCTD8_chr4_44168903_44453809	44179714	T T	TAGGGATC others(792): Show TAGGGATCACTAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTCCTTTCTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTA CATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTG GTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAAT GCTATCCCTCCCCCCTCCCCCCGACCCCACCACAGTCCCCAGAGTGTGAT ATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGA GTGAGATTATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA ATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATC ATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCT TAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCT ATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCA GCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGT CAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTC CACAATGGTTGAACTAGTTGACAGTCCCACCAACAGTGTAAAAGTGTTCC TATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGA TTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGC	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18942.hp2 NA18949.hp2 others(1): Show HG02056.hp1 NA18942.hp2 NA18949.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0151 a0001c0001t0001g0190 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0151 a0001c0001t0001g0190 a0001c0001t0001g0193	4	294	0.0136	799	c.962 others(816): Show c.962-4465_962-4464insGCAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTCAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATAATCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGA CACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAAC TAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAA AAAAAAAGAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGACTATTAGTGATCCCT	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KIF25_chr6_167992671_168050091	167997284	G G	GGGGGCGG others(792): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT GGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGTCGGGGGAATCTGCAGAGATGGGGGACGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGG CGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGG GGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATG GGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	375	0.0027	799	c.-21 others(810): Show c.-2185_-2184insGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGG GGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGACGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGG AATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGG GAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGG GGAGTCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		386		chr6	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(792): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAGGTGGAAGGAAGGAAGGAAAAG AAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAA CAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGA AGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAG GGAGGAAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGA GGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGG AAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAG GAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGA GGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGG AGGGAGGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAG GGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAA AGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02895.hp2 HG02897.hp1 HG01192.hp1 HG02895.hp2 HG02897.hp1	a0002 a0002	a0002c0003 a0002c0056 a0002c0003 a0002c0056	a0002c0003t0003 a0002c0056t0003 a0002c0003t0003 a0002c0056t0003	a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0056t0003g0077 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0056t0003g0077	3	88	0.0341	799	c.507 others(818): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA GGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGA AGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGGGAG GAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGA GGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAACAAAGGAAG GAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGA GGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGG AGGGAGGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGG GAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAA GGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGA AGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAG GGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGA GGGAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LHPP_chr10_124456823_124619141	124471488	A A	ATATATAA others(792): Show ATATATAAATTTTTTTTATATTTATATATTTTTTATATATTTATATATAT TACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATA TATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGT ATATTTATATATATATTTATATATATTTATGTATATTTATATATATATTT ATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTT ATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTT ATATATATATTTATATGTATTTTTATATATTTATATATTTATATGTATTT ATACATATATATTTATATGTATTTATACATATATATTTATATGTATTTAT ATATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATATTTATATATATA TTTATATATATATTTATATATATATTTATATATATATTTATATATATATT TATATATATATTTATATATATATTTATATATATATTTATATATATATTAT TTATATATATATTTATATATATTTATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATTTATATATATTATATA TATTTATATATATTTATATATATATTTATATATGTATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	260	0.0039	799	c.125 others(816): Show c.125+9502_125+9503insATATAAATTTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATTT ATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTT ATATATATTTATATGTATTTATATATATATTTATATGTATTTTTATATAT TTATATATTTATATGTATTTATACATATATATTTATATGTATTTATACAT ATATATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATATTTATATATATATTTATA TATATATTTATATATATATTTATATATATATTTATATATATATTTATATA TATATTTATATATATATTATTTATATATATATTTATATATATTTATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATTTATAT ATATTTATATATATTATATATATTTATATATATTTATATATATATTTATA TATGTATTTATATATATATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 8931 hits)