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.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ARSH_chrX_3001546_3039111	3036936	T T	TATATATA others(411): Show TATATATATTATATATAAAATATATATAATATATATAATATATATATTAT ATATAAAATATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATATTATATATAAAATATATATAATATATATATTATATAT AAAATATATATAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATAAAATATATATAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATAAAATATATATAATAT ATATAATATATATAATATATATAAAATATATATAATATATATAATATATA TATTATATATAAAATATATATCATATATATAATATATATATTATATATAA AATATATATCATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0207 a0002c0006t0002g0207	1	248	0.0040	418	c.35 others(429): Show c.3551_*3552insATATATATTATATATAAAATATATATAATATATA TAATATATATATTATATATAAAATATATATAATATATATATTATATATAA AATATATATAATATATATAATATATATATTATATATAAAATATATATAAT ATATATATTATATATAAAATATATATAATATATATAATATATATATTATA TATAAAATATATATAATATATATAATATATATAAAATATATATAATATAT ATAATATATATATTATATATAAAATATATATAATATATATAATATATATA AAATATATATAATATATATAATATATATAATATATATAAAATATATATAA TATATATAATATATATATTATATATAAAATATATATCATATATATAATAT ATATATTATATATAAAATATATATCATATATATA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2826		chrX	TogoVar
ASAP1_chr8_130047104_130448674	130049877	G G	GGAGAACA others(411): Show GGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAATA CATGGAGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAATACATGGAGG GCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGG AATACATGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAACACATG GGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAG AGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAAC ACACGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGG GGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGG GGAACACATGGGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	308	0.0033	418	c.48 others(429): Show c.4853_*4854insTCTGCCCCCCATGTGTTCCCCTCTGCCCCCCATG TGTTCCCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCCCC TCTGCCCCCCATGTGTTCTCCTCTGCCCCCCGTGTGTTCTCCTCTGCCCC CCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGT TCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCT GCCCTCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCAT GTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCTCCATGTATTCTC CTCTGCCCCCCATGTGTTCTCCTCTGCCCTCCATGTATTCTCCTCTGCCC CCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2226		chr8	TogoVar
ATP11A_chr13_112685038_112892168	112840203	G G	GTCCAGCC others(411): Show GTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCC CACTCTCCCATCCCCCCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCC AGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGACTCAGCCTCCCCACT CTCCCGTGCCTTCCAGCCTCAGCCTCCCCATTCTCTCATCCCCCCTGCCT CAGCCTCCTTACTCTCCTGTCCCCTCCAGCCTCAGCCTCCCCATTCTCTC ATCCCCCCCCAGCCTCAGCCTCCCTACTCTCCTGTCCCCTCCAGCCTCAG CCTCCCCATTCTCTCATCCCCCCCCAGCCTCAGCCTCCCTACTCTCCTGT CCCCTCCAGCCTCAGCCTCCCCATTCTCTCATCCCCCCCCAGCCTCAGCC TCCCTACTCTCCTGTCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03195.hp2 HG03041.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0070 a0001c0002t0014 a0001c0002t0070	a0001c0002t0014g0213 a0001c0002t0070g0199 a0001c0002t0014g0213 a0001c0002t0070g0199	2	254	0.0079	418	c.170 others(437): Show c.1706-2015_1706-2014insATCCCCCCCAGCCTCAGCCTCCCCAC TCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGA CTCAGCCTCCCCACTCTCCCGTGCCTTCCAGCCTCAGCCTCCCCATTCTC TCATCCCCCCTGCCTCAGCCTCCTTACTCTCCTGTCCCCTCCAGCCTCAG CCTCCCCATTCTCTCATCCCCCCCCAGCCTCAGCCTCCCTACTCTCCTGT CCCCTCCAGCCTCAGCCTCCCCATTCTCTCATCCCCCCCCAGCCTCAGCC TCCCTACTCTCCTGTCCCCTCCAGCCTCAGCCTCCCCATTCTCTCATCCC CCCCCAGCCTCAGCCTCCCTACTCTCCTGTCCCCTCCAGCCTCAGCCTCC CCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79327856	A A	ATGGATAG others(411): Show ATGGATAGTGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGGTAGCGTGCT CTCTCTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAG CGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAACGTGCTCTCCGTGG TTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGCGTGCCCTCC CTGGTTAGCGTGCTCTCCGTGTTTAGCATGCTCTCCGTGTTTAGCGTGCT CTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAG CGTGCTCGCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGG TTAACGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGTTCTCC GTGGTTAGCGTGTTCTCCG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	298	0.0034	418	c.177 others(437): Show c.1774-1282_1774-1281insATAGTGTGCTCTCCGTGGTTAGCGTG CTCTCCGTGGGTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAG TGTGCTCTCTCCATGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGT GGTTAACGTGCTCTCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCT CCGTGGTTAGCGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCATG CTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAG TGTGCTCTCTCCATGGTTAGCGTGCTCGCCGTGGTTAGCGTGCTCTCCGT GGTTAGCGTGCTCTCCGTGGTTAACGTGCTCTCCGTGGTTAGCGTGCTCT CCGTGGTTAGCGTGTTCTCCGTGGTTAGCGTGTTCTCCGTGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(411): Show ACAGGGGCTAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGT ACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACAC CACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGG GGCTAGAAGGACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGACC TGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACA CACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAGG GGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGCCAGAAGGACC TGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02896.hp1 HG00099.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0014 a0002c0005 a0001c0014 a0002c0005	a0001c0014t0001 a0002c0005t0007 a0001c0014t0001 a0002c0005t0007	a0001c0014t0001g0012 a0002c0005t0007g0235 a0001c0014t0001g0012 a0002c0005t0007g0235	2	266	0.0075	418	c.460 others(435): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGTCGGCAC CAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCT GGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTG TGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCA GTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCC TTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCT GTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTAGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971776	A A	ACAGGGGC others(411): Show ACAGGGGCTAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGT ACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACAC CACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGG GGCTAGAAGGACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGACC TGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACA CACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAGG GGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGCCAAAAGGACC TGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0007	a0002c0010t0007g0224 a0002c0010t0007g0224	1	266	0.0038	418	c.460 others(435): Show c.460-6031_460-6030insGTGTGGTGTGTCGGCTCCAGGTCCTTTT GGCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGTCGGCAC CAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCT GGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTG TGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCA GTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCC TTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCT GTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTAGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971776	A A	ACAGGGGC others(411): Show ACAGGGGCTAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGT ACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACAC CACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGG GGCTAGAAGGACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGACC TGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACA CACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAGG GGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGCCAGAAGGACC TGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 NA20300.hp2 HG01257.hp2 HG01258.hp2 NA20300.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0007	a0002c0010t0007g0004 a0002c0010t0007g0216 a0002c0010t0007g0004 a0002c0010t0007g0216	3	266	0.0113	418	c.460 others(435): Show c.460-6031_460-6030insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGTCGGCAC CAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCT GGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTG TGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCA GTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCC TTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCT GTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTAGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	384908	T T	TGGGCAAG others(411): Show TGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCC ACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCT GGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACA GCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGAC CCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGC CTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCA CAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAG ACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAG GCCTGGAACCCCCACAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	184	0.0054	418	c.31 others(429): Show c.3116_*3117insGGGCAAGACCCACTCCCAGGCCTGGAACCCCCAC AGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGA CCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGG CCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCC ACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAA GACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCA GGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCC CCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGC AAGACCCACTCCCAGGCCTGGAACCCCCACAGCC	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		2792		chr11	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGCGGG others(411): Show AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAG GGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGG CGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAG GGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGG AGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGAC GGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGA GGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGG AGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAG GGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0201	1	410	0.0024	418	c.465 others(433): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTC CGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCC TCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGCGGG others(411): Show AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAG GGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAG GGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGA GGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACG GAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAG GGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA21309.hp2 HG01258.hp2 NA21309.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0163 a0002c0006t0001g0181 a0002c0006t0001g0163 a0002c0006t0001g0181	2	410	0.0049	418	c.465 others(433): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCC TCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTC CGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCC TCCGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTC CCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCC TCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2orf80_chr2_208160347_208195030	208176938	T T	TAGGTGTA others(411): Show TAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGGTG TATACATACGTATACATATCTGTATACATACGTATACATAGGTGTATACA TACGTATACATATCTGTATACATACGTATACATATCTGTATACATACGTA TACATAGGTGTATACATACGTATACATATCTGTATACATACGTATACATA GGTGTATACATACGTATACATATCTGTATACATACGTATACATAGGTGTA TACATACGTATACATATCTGTATACATACGTATACATAGGTGTATACATA CGTATACATATCTGTATACATACGTATACATAGGTGTATACATACGTATA CATATCTGTATACAGATCTGTATACAGATGTATACAGATCTGTATACAGA TGTATACAGATCTGTATAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	342	0.0029	418	c.366 others(435): Show c.366+3806_366+3807insGTATACAGATCTGTATACATCTGTATAC AGATCTGTATACATCTGTATACAGATCTGTATACAGATATGTATACGTAT GTATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTATAC ACCTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTAT GTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGTATAC GTATGTATACAGATATGTATACGTATGTATACACCTATGTATACGTATGT ATACAGATATGTATACGTATGTATACAGATATGTATACGTATGTATACAC CTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGT ATACGTATGTATACAGATATGTATACGTATGTATACACCT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CACNA1H_chr16_1148106_1226768	1185865	G G	GGTCAGCG others(411): Show GGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTATGGGGCGG GTGAGTAGACGGTCGGCGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0053 a0053	a0053c0053 a0053c0053	a0053c0053t0001 a0053c0053t0001	a0053c0053t0001g0004 a0053c0053t0001g0004	1	338	0.0030	418	c.300 others(435): Show c.300-9106_300-9105insTCAGCGTGCGTAGGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGG AGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAG GCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMKK2_chr12_121232692_121301709	121255224	A A	ATATATAT others(411): Show ATATATATAATTATATATATAATTTTATATATATATAATTATATATATAA TTATATATATATAATTATATATATAATTATATATATATAATTATATATAT ATAATTATATATTTTTATATATATAATTATATATATAATTTTATATATAT ATAATTATATATAATTATATATATATAATTATATATATTATATATATAAT TATATATATATATTATATATATAATTTTATATATATATAATTATATATAT AATTTTATATATATAATTATATATATATAAAATTATATATATAATTTTAT ATATAAAATTATATATATAATTTTATATATATAATTATATATATAATTTT ATATATATAATTATATATATATAATTTTATATATATAATTATATATATAT AATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18957.hp2 NA18989.hp1 HG00558.hp2 NA18957.hp2 NA18989.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0040 a0002c0004t0002g0050 a0002c0004t0002g0054 a0002c0004t0002g0040 a0002c0004t0002g0050 a0002c0004t0002g0054	3	330	0.0091	418	c.907 others(433): Show c.907+325_907+326insATTATATATATATAAAATTATATATATATA ATTATATATATAAAATTATATATATATAATTATATATATAAAATTATATA TATAATTATATATATAAAATTATATATATAATTTTATATATAAAATTATA TATATAATTTTATATATATATAATTATATATATAAAATTATATATATAAT TATATATATATAAAATTATATATATAATATATATATATAATTATATATAT AATATATATAATTATATATATATAATTATATATAATTATATATATATAAA ATTATATATATAATTATATATATAAAAATATATAATTATATATATATAAT TATATATATATAATTATATATATAATTATATATATATAATTATATATATA ATTATATATATATAAAATTATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN15_chr16_522712_559636	544713	C C	CCACGTCG others(411): Show CCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGCCTCCCCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	410	0.0024	418	c.-22 others(435): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(411): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATAT ATACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGT GTATATATACATATATACGTATGTATGTGTATATATACATATATACGTAT GTATGTGTATATATACATATATACGTATGTATGTGTATATATACATATAT ACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATAC ATATATACGTATGTATGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01255.hp1 HG02300.hp2 others(17): Show HG01168.hp1 HG01255.hp1 HG02300.hp2 HG02622.hp1 HG02922.hp1 HG03041.hp2 HG03486.hp1 HG04228.hp2 NA18952.hp2 NA18968.hp1 NA18971.hp2 NA18972.hp1 NA18978.hp2 NA18982.hp1 NA18990.hp1 NA19004.hp2 NA19056.hp1 NA19070.hp1 NA19082.hp2 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0016 a0001c0001 a0005c0016	a0001c0001t0001 a0005c0016t0001 a0001c0001t0001 a0005c0016t0001	a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 others(17): Show a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0312 a0001c0001t0001g0314 a0005c0016t0001g0204	20	316	0.0633	418	c.273 others(435): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATATATGTATATATACACATACATA CGTATATATGTATATATACACATACATACGTATATATGTATATATACACA TACATACGTATATATGTATATATACACATACATACGTATATATGTATATA TACACATACATACGTATATATGTATATATACACATACATACGTATATATG TATATATACACATACATACGTATATATGTATATATACACATACATACGTA TATATGTATATATACACATACATACGTATATATGTATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(411): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCT CTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0213 a0001c0001t0004g0213	1	256	0.0039	418	c.-45 others(439): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(411): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCT CTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	256	0.0039	418	c.-45 others(439): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(411): Show AAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA AAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAGAAAGA AAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGA AAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGA AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAGGAAAGAAAGAAAGA GAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0151	1	258	0.0039	418	c.403 others(433): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTT CTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTT CTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(411): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCC TCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCC TCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	354	0.0028	418	c.69 others(429): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTC CCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTT CCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(411): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCT CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCC TCCCTTCCCCCTTCCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCC TCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	354	0.0028	418	c.69 others(429): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20320375	A A	ATATATAT others(411): Show ATATATATTATATATGTAATATAATATATGTAATATATATTATATATGTA ATATATAATATATGTAATATATATTATATATATTATATATGTAATATATA TTATATATATTATATATATTATATATGTAATATATATTATATATATTATA TATATTATATATGTAATATATATTATATATATTATATATATTATATATGC AATATATATTATATATATTATATATGCAATATATATTATATATTACATAT GTAATATATATATTATATATTACATATGTAATATATATTACATATGTAAT ATATATTATATATGTAATATATATTACATATATTATATATGTAATATATA ATATATATTATATATGTAATATATATTATATATGTAATATATAATATATA TGTAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0135 a0004c0008t0001g0135	1	236	0.0042	418	c.342 others(439): Show c.3423-21449_3423-21448insTATATATGTAATATAATATATGTA ATATATATTATATATGTAATATATAATATATGTAATATATATTATATATA TTATATATGTAATATATATTATATATATTATATATATTATATATGTAATA TATATTATATATATTATATATATTATATATGTAATATATATTATATATAT TATATATATTATATATGCAATATATATTATATATATTATATATGCAATAT ATATTATATATTACATATGTAATATATATATTATATATTACATATGTAAT ATATATTACATATGTAATATATATTATATATGTAATATATATTACATATA TTATATATGTAATATATAATATATATTATATATGTAATATATATTATATA TGTAATATATAATATATATGTAATATATAATATATATTATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(411): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGC AGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGA GGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAGGGGAG GGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGG AGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGG AAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGG GAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19002.hp2 NA18950.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0259 a0001c0001t0001g0234 a0001c0001t0001g0259	2	308	0.0065	418	c.637 others(433): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGT CCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTC CCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTC CCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(411): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAA CTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCAC ATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	320	0.0031	418	c.-52 others(435): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCA AGGTTGTATTTCTGTTTATAACTGGTGGGTGGGGGGGAGTTAAATTAATT TTGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGG CCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGG GCGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(411): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAA CTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCAC ATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01978.hp1 NA18943.hp1 HG00738.hp1 HG01978.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0003g0082 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0003g0082	3	320	0.0094	418	c.-52 others(435): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCA AGGTTGTATTTCTGTTTATAACTGGTGGGTGGGGGGGAGTTAAATTAATT TTGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGG CCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGG GCGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(411): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAA CTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTTCCAGCTGCTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0039 a0003c0003t0001g0039	1	320	0.0031	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTTCCAGC TGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(411): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAA CTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTGCTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0032 a0003c0003t0001g0032	1	320	0.0031	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGC TGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(411): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTCGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	320	0.0031	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTCGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(411): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTTCCAGCTGCTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0038 a0003c0003t0001g0038	1	320	0.0031	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTTCCAGC TGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(411): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	320	0.0031	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(411): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCAT GTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG02040.hp2 others(6): Show HG00558.hp1 HG00673.hp1 HG02040.hp2 HG02056.hp1 NA18951.hp2 NA18966.hp2 NA19007.hp2 NA19079.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0217 others(6): Show a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0318 a0001c0001t0002g0201 a0001c0001t0002g0218	9	320	0.0281	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(411): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCAT GTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00621.hp2 others(79): Show HG00280.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03491.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA18985.hp1 NA18999.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19043.hp1 NA19070.hp2 NA19086.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0009	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0008c0007 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0002c0002t0001 a0002c0002t0002 a0003c0003t0004 a0008c0007t0003 a0009c0008t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0177 others(79): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0002g0005 a0001c0001t0002g0209 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0002g0262 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0003g0084 a0001c0001t0003g0096 a0001c0001t0003g0222 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0250 a0001c0001t0003g0261 a0001c0001t0003g0270 a0001c0001t0003g0292 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0015 a0001c0001t0004g0026 a0001c0001t0005g0023 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0008g0176 a0001c0001t0010g0229 a0001c0001t0010g0230 a0001c0001t0010g0286 a0001c0001t0011g0221 a0001c0001t0020g0024 a0001c0001t0024g0269 a0001c0001t0025g0288 a0002c0002t0001g0268 a0002c0002t0002g0251 a0003c0003t0004g0162 a0008c0007t0003g0267 a0009c0008t0001g0161	82	320	0.2563	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(411): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGGGGTGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCAT GTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0275 a0001c0001t0004g0275	1	320	0.0031	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGTGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(411): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCAT GTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG04204.hp1 HG02965.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0206 a0001c0001t0013g0196 a0001c0001t0003g0206 a0001c0001t0013g0196	2	320	0.0063	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(411): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCAT GTTTTAGAAACAAACATTTCTCGGCCGGGCGTGGTGGCTCAAGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCCCTGCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	320	0.0031	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGTGGTGGCTCA AGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCCCTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(411): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCGGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCAT GTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	320	0.0031	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCGGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(411): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTG GGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCAT GTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp1 NA20300.hp1 HG01884.hp2 HG02976.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0009g0010 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0009g0010	3	320	0.0094	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(411): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GAGGGGGTGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0033 a0033	a0033c0042 a0033c0042	a0033c0042t0004 a0033c0042t0004	a0033c0042t0004g0004 a0033c0042t0004g0004	1	126	0.0079	418	c.416 others(439): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCACCCCCTCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCCTCCCCTCCCCCT CCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCTCC CTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCACATCCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(411): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGG AGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGGAGG GGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAA GGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02735.hp1 HG00735.hp2 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0012 a0002c0002t0018g0062 a0002c0002t0018g0012 a0002c0002t0018g0062	2	216	0.0093	418	c.923 others(437): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCC CTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCC TCCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTC CCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(411): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGAATGGAGGGATGGGGAG GGGGAGGGGAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAG TGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAAGGGGAG GGGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAG GGGGAGGGGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0006 a0002c0011t0006	a0002c0011t0006g0124 a0002c0011t0006g0124	1	216	0.0046	418	c.923 others(437): Show c.923-33078_923-33077insCTCCCCCCTCCCCCTCCCCCTCCCCC TCCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCT TCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCACTCCCCT CCCCCTCCCCTCACCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCA TCCCTCCATTCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCATTCCTT CCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK2_chr4_150073445_150262438	150251087	A A	ACACCCCC others(411): Show ACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAACACC CCCCAACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCA CACCCCCCACACCCCCCACATCTCCCCACACACCCCCCACACCACACATC CCCCACACCCCCCACACCCCCCACACCCCCCACATCTCCCCACACACCCC CACACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACC ACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACAT CCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCA CACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACATCCC CACACCCCCCAACACCCCC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0076 a0001c0001t0009g0076	1	116	0.0086	418	c.207 others(437): Show c.2073+1403_2073+1404insCACCCCCACACACCCCCCACACCACA CATCCCTCACACCCCCCAACACCCCCCAACACCCCCACACACCCCCCACA CCACACATCCCCCACACCCCCCACACCCCCCACACCCCCCACATCTCCCC ACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACACC CCCCACATCTCCCCACACACCCCCACACCACACATCCCCCACACCCCCCA CACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCC CACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACA CCCCCCACACCACACATCCCTCACACCCCCCAACACCCCCACACCCCCAC ACACCCCCCACACCACACATCCCCACACCCCCCAACACCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DGKH_chr13_42043648_42247896	42197252	C C	CAACAACA others(411): Show CAACAACAAAAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAA TGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCA TTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCA CTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAA TATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGC ATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCAC CAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATG TACCCTAAAACTTAGAGTATAATAAAAAAAAAAAATTAAAAAAAAAAATA AAAATAAAAATAAAAATAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18950.hp1 NA18954.hp2 others(8): Show HG02074.hp1 NA18950.hp1 NA18954.hp2 NA18961.hp2 NA18966.hp1 NA18986.hp1 NA18993.hp2 NA18999.hp2 NA19012.hp2 NA19077.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0105 a0001c0003t0006 a0001c0003t0105	a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 others(8): Show a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 a0001c0003t0006g0261 a0001c0003t0006g0262 a0001c0003t0006g0295 a0001c0003t0006g0304 a0001c0003t0006g0305 a0001c0003t0006g0307 a0001c0003t0006g0308 a0001c0003t0105g0132	11	316	0.0348	418	c.216 others(437): Show c.2168-1224_2168-1223insCAACAAAAAAAAAAATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAATTAAAAAAAAAAATAAAAATAAAAATAAAAATAAAA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42197252	C C	CAACAACA others(411): Show CAACAACAACAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAA TGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCA TTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCA CTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAA TATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGC ATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCAC CAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATG TACCCTAAAACTTAGAGTATAATAAAAAAAAAAAATTAAAAAAAAAAATA AAAATAAAAATAAAAATAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0106 a0001c0003t0106	a0001c0003t0106g0058 a0001c0003t0106g0058	1	316	0.0032	418	c.216 others(437): Show c.2168-1224_2168-1223insCAACAACAAAAAAAATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAATTAAAAAAAAAAATAAAAATAAAAATAAAAATAAAA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DIP2C_chr10_269201_694668	608490	C C	CCCACACA others(411): Show CCCACACACACGCCCCCCCCCCACACACATCCCCCCCCCCACACACACAT CCCCCCCCCCACACACACATCCCCCCCCCCACACACACATCCCCCCCCCC ACACACACATCCCCCCCCCCACACACACATCCCCCCCCACACACACACAT CCCCCCCCACACACACACATCCCCCCCACACACACACATCCCCCCCCACA CACACATCCCCCCCCACACACACATCCCCCCCCCACACACACATCCCCCC CCACACACACACATCCCCCCCACACACACACATCCCCCCCACACACACAC ATCCCCCCCACACACACACATCCCCCCCACACACACACATCCCCCCCACA CACACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACATC CCCCCCCACACACACACAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	88	0.0114	418	c.85+ others(435): Show c.85+81003_85+81004insATGTGTGTGTGTGGGGGGGGATGTGTGT GTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGG GATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTG TGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGGATG TGTGTGTGGGGGGGGGATGTGTGTGTGGGGGGGGATGTGTGTGTGGGGGG GGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTG TGTGGGGGGGGATGTGTGTGTGGGGGGGGGGATGTGTGTGTGGGGGGGGG GATGTGTGTGTGGGGGGGGGGATGTGTGTGTGGGGGGGGGGATGTGTGTG TGGGGGGGGGGATGTGTGTGGGGGGGGGGCGTGTGTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522761	A A	ACCCAGCC others(411): Show ACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGA CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGC CCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACC CAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGGCCCAGCGAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0012 a0012	a0012c0046 a0012c0046	a0012c0046t0021 a0012c0046t0021	a0012c0046t0021g0016 a0012c0046t0021g0016	1	358	0.0028	418	c.236 others(437): Show c.2363-1172_2363-1171insAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG ACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522761	A A	ACCCAGCC others(411): Show ACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGA CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGC CCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACC CAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGGCCCAGCGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0012 a0012	a0012c0045 a0012c0045	a0012c0045t0004 a0012c0045t0004	a0012c0045t0004g0018 a0012c0045t0004g0018	1	358	0.0028	418	c.236 others(437): Show c.2363-1172_2363-1171insAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG ACCCAGCCAAGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP1_chr18_3491032_4460307	3741358	A A	ATCACCAT others(411): Show ATCACCATCACCACCACCACCACCATCACCTCACCACCACCACCACCATC ACCACCACCATCACCACCATCACCTCACCACCACCACCACCATCACCTCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACC ACCACCATCACCATCACCACCACCATCACCACCACCACCACATCACCATC ACCATCACCACCACCATCACCACCACATCACCACCACCACCACCACCACC ACCAAATCACCACCACCACCACCACATCACCATCACCACCACCACCATCA CCATCACCACCACAATCACCACCACCACCACATCACCATCACCACCACCA CCACCACCACATCACATCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02451.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0039 a0001c0006t0013 a0001c0001t0039 a0001c0006t0013	a0001c0001t0039g0056 a0001c0006t0013g0073 a0001c0001t0039g0056 a0001c0006t0013g0073	2	80	0.0250	418	c.135 others(435): Show c.1350+976_1350+977insGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGATGTGATGTGGTGGTGGTGGTGGTGG TGATGGTGATGTGGTGGTGGTGGTGATTGTGGTGGTGATGGTGATGGTGG TGGTGGTGATGGTGATGTGGTGGTGGTGGTGGTGATTTGGTGGTGGTGGT GGTGGTGGTGGTGATGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGAT GTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAGGTGAT GGTGGTGGTGGTGGTGAGGTGATGGTGGTGATGGTGGTGGTGATGGTGGT GGTGGTGGTGAGGTGATGGTGGTGGTGGTGGTGATGGTGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	6/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1470956	C C	CCTTTCCC others(411): Show CCTTTCCCGACCCCTGCAGCCTTTCCCGACCCCTGCAGCCTTTCCCGACC CCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTT CCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCC AGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCATCCTTTCCCGA CCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGACCCCTCCAGCCT TTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCT CCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTGCAGCCTTTCCC GACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGACCCCTCCAGC CTTTCCCGACCCCTCCAGG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	418	c.107 others(437): Show c.107-30396_107-30395insGCAGCCTTTCCCGACCCCTGCAGCCT TTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCT CCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGGCTTTCCC GACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCATC CTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGACCC CTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTC CCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTGCA GCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGAC CCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH9_chr17_11593470_11974748	11712086	G G	GTATATAT others(411): Show GTATATATATATAAATATATATATTTGTATATATATTTATATATAAATAT ATATATTTGTATATATATTTATATATAAATATATATATTTGTATATATAT ATAAATATATATATTTGTATATATATTTATATATATATATTTGTATATAT ATTTATATATAAATATATATATAAATATATATATTTATATATAAATACAT ATATTTATATATTTATATATAAATATATGTATTTATATAAATTTATATAT ATATATATTTATATATAAATATATATATATATAAATATATATATTTATAT ATATTTATATATAAATATATATATTTATATATATTTATATATAAATATAT ATATATAAATATATATATTTATATATATATATATTTATATATATTTATAT ATAAATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	178	0.0056	418	c.555 others(437): Show c.5552+6910_5552+6911insATAAATATATATATTTGTATATATAT TTATATATAAATATATATATTTGTATATATATTTATATATAAATATATAT ATTTGTATATATATATAAATATATATATTTGTATATATATTTATATATAT ATATTTGTATATATATTTATATATAAATATATATATAAATATATATATTT ATATATAAATACATATATTTATATATTTATATATAAATATATGTATTTAT ATAAATTTATATATATATATATTTATATATAAATATATATATATATAAAT ATATATATTTATATATATTTATATATAAATATATATATTTATATATATTT ATATATAAATATATATATATAAATATATATATTTATATATATATATATTT ATATATATTTATATATAAATATATATATATAAATATATATAT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	26/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DOCK1_chr10_126900428_127457516	127396913	G G	GAGTTACA others(411): Show GAGTTACACGGGCAGCGACTCCTATGTGATCTGAGCATGAGTTACATGGG CAGTGTCTCCTATGTGATCTGAGCATCAGTTACACGGGCAGTGTCTCCTA TGTGATCTGAGCATGAGTTACACGGGCGGTGTCTCCTATGTGATCTGAGC ATGAGTTACACGGGCAGCGACTCCTATGTGATCTGAGCATCAGTTACACG GGCAGCGACTCCTATGTGATCTGAGCATAAGTTACACGGGCAGTGTCTCC TATGTGATCTGAGCATGAGTTACACGGGCGGCGACTCCTATGTGAACTGA GCATGAGTTACATGGGCGGTGTCTCCTATGTGATCTGAGCATGAGTTACA CGGGTGGTGTCTCCTATGTGATCTGAGCATGAGTTACACGGGCAGTGTCT CCTATGTGATCTGAGCATC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0085 a0001c0007t0001g0085	1	136	0.0074	418	c.392 others(437): Show c.3928-6097_3928-6096insTGGGCAGTGTCTCCTATGTGATCTGA GCATCAGTTACACGGGCAGTGTCTCCTATGTGATCTGAGCATGAGTTACA CGGGCGGTGTCTCCTATGTGATCTGAGCATGAGTTACACGGGCAGCGACT CCTATGTGATCTGAGCATCAGTTACACGGGCAGCGACTCCTATGTGATCT GAGCATAAGTTACACGGGCAGTGTCTCCTATGTGATCTGAGCATGAGTTA CACGGGCGGCGACTCCTATGTGAACTGAGCATGAGTTACATGGGCGGTGT CTCCTATGTGATCTGAGCATGAGTTACACGGGTGGTGTCTCCTATGTGAT CTGAGCATGAGTTACACGGGCAGTGTCTCCTATGTGATCTGAGCATCAGT TACACGGGCAGCGACTCCTATGTGATCTGAGCATGAGTTACA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	38/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DUSP8_chr11_1549051_1577271	1551134	C C	CCCACCCC others(411): Show CCCACCCCATTCATCCCTCTACCCATTCATCCATCTGCCCATCCATCCAT CCACCCACCCGCCCACCCCACTCATCCCTCTACCCATTCATTCATCTGCC CATCCATCCATCCATCCACCCACCCACCCCACTCATCCCTCTACCCATTC GTCCATCTGCCCATCCATCCATCCATCCACCCACCCATCCACCCCACTCA TCCCTCTACCCATTCGTCCATCTGCCCATCCATCCATCCATCCACCCACC CATCCACCCCACTCATCCCTCTACCCATTCATCATCTGCCTATCCATCCA TCCAACCACCCACCCCACTCATCCCTCTACCCATTCATCCATTTGCTCAT CCATCCATCCACCCACCCACCCCACTCATCCCTCTACCCATTCATCCATC TGCCCATCCATCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01261.hp2 others(7): Show HG00741.hp2 HG01081.hp1 HG01261.hp2 HG01358.hp2 HG02148.hp2 HG02273.hp2 HG02602.hp2 HG03927.hp1 HG03942.hp2 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0021 a0001c0002t0005 a0001c0002t0021	a0001c0002t0005g0009 a0001c0002t0005g0024 a0001c0002t0005g0054 others(3): Show a0001c0002t0005g0009 a0001c0002t0005g0024 a0001c0002t0005g0054 a0001c0002t0005g0056 a0001c0002t0005g0057 a0001c0002t0021g0055	10	367	0.0273	418	c.53 others(429): Show c.5383_*5384insATGGATGGATGGATGGGCAGATGGATGAATGGGT AGAGGGATGAGTGGGGTGGGTGGGTGGATGGATGGATGAGCAAATGGATG AATGGGTAGAGGGATGAGTGGGGTGGGTGGTTGGATGGATGGATAGGCAG ATGATGAATGGGTAGAGGGATGAGTGGGGTGGATGGGTGGGTGGATGGAT GGATGGATGGGCAGATGGACGAATGGGTAGAGGGATGAGTGGGGTGGATG GGTGGGTGGATGGATGGATGGATGGGCAGATGGACGAATGGGTAGAGGGA TGAGTGGGGTGGGTGGGTGGATGGATGGATGGATGGGCAGATGAATGAAT GGGTAGAGGGATGAGTGGGGTGGGCGGGTGGGTGGATGGATGGATGGGCA GATGGATGAATGGGTAGAGGGATGAATGGGGTGG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		2916		chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)