Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CD99_chrX_2686295_2746309	2724037	G G	GGGAAGGA others(582): Show GGGAAGGAGGGAGGGAAGAAAGGAAAAGAGGGAGGGAAAAGGGAGGGAAG GAAGGAAAAGAAGGAGGGAAAAAAGGAAGGAAGGGAGGAGGAAGGAAGGA AAAGAAAGAGGGAGGGAGGGAAAAAAGGAAGGAAGGAGGAAGGAAGGAAA AGAAAGAGGAAGGGAGGGAGGGAAAAAAGGAAGGAAGGAGGAAGGAAGGA AAGGAAGGGAGGAAGGAAGGACAAGAAAGACGGAGGGAAGGAAAAGAAGG AAGGGAGGAGGAAGGAAAGGAAGGGAAGGAAGGGAGTGAAGGGAAAGGGA GGGAGGGAAGGAAGGAAGGAAAGGAGAAAGGGAAACAAGAAAAGGAGGAA AGGAAGGAAAGAGGGAAGGAGAGAGGAGAGACAGGAGAGAGGGAGGGGCG AGGACAATAGCTTCGTATTTTAGTGTCTCTCAATTCTCAGGGACTTTGCT TCTAGCAAAATGCCTGGTTTTAAGCAACTTCTTTGGCAGAAGAGATACTA ATTTGGCCAAAGATTTTAACACCCGTTTGCCATTTTAATCACTGATAAAA TGTGGATTCTTAAAATATGCAACGAATGTTTGTGGAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp2 HG02895.hp2 others(3): Show HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0076 a0001c0001t0001g0077 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0090 a0001c0001t0001g0174	6	211	0.0284	589	c.361 others(604): Show c.361+674_361+675insGAAGGAGGGAGGGAAGAAAGGAAAAGAGGG AGGGAAAAGGGAGGGAAGGAAGGAAAAGAAGGAGGGAAAAAAGGAAGGAA GGGAGGAGGAAGGAAGGAAAAGAAAGAGGGAGGGAGGGAAAAAAGGAAGG AAGGAGGAAGGAAGGAAAAGAAAGAGGAAGGGAGGGAGGGAAAAAAGGAA GGAAGGAGGAAGGAAGGAAAGGAAGGGAGGAAGGAAGGACAAGAAAGACG GAGGGAAGGAAAAGAAGGAAGGGAGGAGGAAGGAAAGGAAGGGAAGGAAG GGAGTGAAGGGAAAGGGAGGGAGGGAAGGAAGGAAGGAAAGGAGAAAGGG AAACAAGAAAAGGAGGAAAGGAAGGAAAGAGGGAAGGAGAGAGGAGAGAC AGGAGAGAGGGAGGGGCGAGGACAATAGCTTCGTATTTTAGTGTCTCTCA ATTCTCAGGGACTTTGCTTCTAGCAAAATGCCTGGTTTTAAGCAACTTCT TTGGCAGAAGAGATACTAATTTGGCCAAAGATTTTAACACCCGTTTGCCA TTTTAATCACTGATAAAATGTGGATTCTTAAAATATGCAACGAATGTTTG TGGAAAAAG	CD99	ENSG00000002586.20	transcript	ENST00000381192.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(582): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCC TCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	12	0.0833	589	c.-45 others(610): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTC TCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTC TCCCCTCCCCTCCCC	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(582): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCC TCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	12	0.0833	589	c.-45 others(610): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTC TCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTC TCCCCTCCCCTCCCC	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(582): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCC TCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	12	0.0833	589	c.-45 others(610): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTC TCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTC TCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(582): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCC TCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTT CCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTT CCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCTCCC TTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCT CCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0003	1	8	0.1250	589	c.69 others(600): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTC CCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTC CTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCT TCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCT CCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCC TTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCT CTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTC CTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(582): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTC CCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTT CCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	8	0.1250	589	c.69 others(600): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCC TCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTT CCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTT CCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCC TTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTTT CTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHMP1A_chr16_89639435_89662708	89647581	A A	AGTGGAGA others(582): Show AGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTG GGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGAGACCCAGCGCGGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGAC CCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCG GGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGT GGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	214	0.0047	589	c.253 others(604): Show c.253-251_253-250insCGACCCCGCGCTGGGTCTCCACGTCGGCGG CCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCT CCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCCGCGC TGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACC GACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGC GCTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTC TCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTC GGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCT TTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648404	G G	GGACCCAG others(582): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACC CAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGTGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTG GAGAAAAGGCCGCCGACGGGGAGACCCAGCGCGGGGTCGGTGGAGAAAAG GCGGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGA CCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	108	0.0093	589	c.252 others(604): Show c.252+946_252+947insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCCCGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCCGCG CTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCAC CGACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCG CGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648404	G G	GGACCCAG others(582): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGTGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGGTCGGTG GAGAAAAGGCCGCCGACGGGGAGACCCAGCGCGGGGTCGGTGGAGAAAAG GCGGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGA CCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	108	0.0093	589	c.252 others(604): Show c.252+946_252+947insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCCCGTCGGCG GCCTTTTCTCCACCGACCCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCG ACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCAC CGACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCG CGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CLPTM1L_chr5_1312752_1350099	1333778	G G	GGGGGGAC others(582): Show GGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTA GATACACGGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAG GATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTA CTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCAG ATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGG GACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACAC ACGGGATGAGGATAAGGGGGGACTACTGTACACACACGGGATGAGGATGA GGGACTATTGTATACACACCAGATGAGGATAAGGGGGACTACTGTATACA CACCGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATA AGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTA TACACACCGGATGAGGATAAGGGGGGACTACTGTAGACACACGGGATGAG GATAAGGGGGGACTACTGTAGACACACCGGATGAGGATAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	368	0.0027	589	c.891 others(604): Show c.891+510_891+511insTTATCCTCATCCGGTGTGTCTACAGTAGTC CCCCCTTATCCTCATCCCGTGTGTCTACAGTAGTCCCCCCTTATCCTCAT CCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAG TAGTCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCC TCATCCGGTGTGTATACAGTAGTCCCCCTTATCCTCATCTGGTGTGTATA CAATAGTCCCTCATCCTCATCCCGTGTGTGTACAGTAGTCCCCCCTTATC CTCATCCCGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTA TACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCC TTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGT GTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTC CCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCAT CCCGTGTATCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAG TAGTCCCCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNOT3_chr19_54132762_54160681	54133805	T T	TCTCCACC others(582): Show TCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	219	0.0046	589	c.-42 others(600): Show c.-4239_-4238insCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTC CACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTC CCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3956		chr19	TogoVar
CPNE7_chr16_89570758_89602246	89597936	T T	TCTGTCCA others(582): Show TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG CCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC CGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCC CCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACC CGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCA TCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATC CGTCCACCCACCCATCTGTCCACCCATCCGTCCACCCATCCGTCCACCCA TCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACC CATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCA CCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCATCCACT CACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0153 a0001c0002t0004g0153	1	226	0.0044	589	c.13 others(600): Show c.1315_*1316insCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGT CCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCC CCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCCGTCCAC CCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCC ATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGT CCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCC ACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCAT TCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		691		chr16	TogoVar
CUL4A_chr13_113204613_113272108	113232265	C C	CGCCCACC others(582): Show CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCAC TACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0110 a0001c0001t0012g0110	1	150	0.0067	589	c.513 others(604): Show c.513-903_513-902insCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG CTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCT GCCCACCAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAH17_chr17_78418697_78582396	78438438	A A	AGGAGGAG others(582): Show AGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGG AGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGGGA GGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGG AGGAGGGGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGAGGAGGAGGAGGG AGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGA GGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAG GAGGAAGGAGGAGGGAGGAGGAAGGAGGAAGGAGGAGGGAGGAGGAGGAG GGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGG AGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAAG GAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGG GGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0002 a0010c0007t0002	a0010c0007t0002g0048 a0010c0007t0002g0048	1	241	0.0041	589	c.118 others(608): Show c.11806-571_11806-570insCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCCTCCCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCT CCTCCTCCCTCCTCCTTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCT CCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTC CCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCCTTCCTCCTC CCTCCTCCTTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCTCCTC CTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTC CTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCCCTCCTC CCCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTC CTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCC TCCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCC TCCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DYM_chr18_49031387_49465645	49203065	T T	TCCGCCCG others(582): Show TCCGCCCGGCCAGCCGCCTCGACTGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGT CCGGGAGGGAGGTGGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCG TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTGGGGGGGTC GGCCCCCGGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGG GTCAGCCCCCCTGCCCGGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	274	0.0036	589	c.162 others(608): Show c.1625+6485_1625+6486insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACCGGGCGGCTGGCCGG GCAGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCCGGGGGCCGACCCCCCCACCTCCCTCCCGGAAGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGTCGAGGCG GCTGGCCGGGCGG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
EIPR1_chr2_3183970_3382818	3315642	C C	CCCCATAC others(582): Show CCCCATACACACCCCCTACCACCACCATCACCACCATCCCCATCCACACC CCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACC ATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCC CCATACACACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCC CTACCACCACCATCACCACCATCCCCATCCACAGCCCCACCACCATCCTC ACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCA TCCACAGCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTA CCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCAC CACCATCCCCATCCACAGCCCCACCACCATCCTCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0249 a0001c0001t0007g0249	1	200	0.0050	589	c.259 others(608): Show c.259+22374_259+22375insATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTGGGGCTGT GGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGT GGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTG GTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGG ATGGGGATGGTGGTGAGGATGGTGGTGGGGCTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGTATGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315642	C C	CCCCATCC others(582): Show CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATACACACC CCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACC ATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCC CCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCC CTACCACCACCATCACCACCATCCCCATACACACCCCCTACCACCACCAT CACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCC ATCCACAGCCCCACCACCATCCTCACCACCATCCCCATCCACACCCCCTA CCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCAC CACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCCCCATC CACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCACCA CCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03017.hp2 HG00642.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0072 a0001c0004t0001g0074 a0001c0001t0001g0072 a0001c0004t0001g0074	2	201	0.0100	589	c.259 others(608): Show c.259+22374_259+22375insATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGAGGATGGTGGTGGGGCTGTGGATGGGGATGGTGGTGATGGTGG TGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGT GTATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGT GGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTG GTGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGT GATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137329823	G G	GGGGCTAC others(582): Show GGGGCTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACAC GGGAGTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACAC GGGACTACACGGGGCTACACGGGGTCACACGGGACTACACGGGACTACAC GGGGCTACACGGGACTACACGGGAGCTACACGGGACTACACGGGGCTACA CGGGGCTACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGGCTAC ACGGGACTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGACTA CACGGGGCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGAGCT ACACGGGACTACACGGGACTACACGGGACTACACAGGGTCACACGGGACT ACACGGGACTACACGGGACTACACAGGAACTACACAGGGTCACACAGGAC TACACCGGAGCTACACGGGACTACACAGGACTACACAGGACTATGCAGGA CCACACAGGAGCTATACAGGAGCTACACGGGACTACACAGGACTACACGG GACTACACCGGAACTACACAGGGTCACACAGGACTACACA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18999.hp1 NA19007.hp1 others(1): Show HG02129.hp1 NA18999.hp1 NA19007.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0057 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0060	4	18	0.2222	589	c.199 others(608): Show c.1999-5681_1999-5680insTGTGTAGTCCTGTGTGACCCTGTGTA GTTCCGGTGTAGTCCCGTGTAGTCCTGTGTAGTCCCGTGTAGCTCCTGTA TAGCTCCTGTGTGGTCCTGCATAGTCCTGTGTAGTCCTGTGTAGTCCCGT GTAGCTCCGGTGTAGTCCTGTGTGACCCTGTGTAGTTCCTGTGTAGTCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTAGCTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCC CGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTC CCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCT CCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAG TCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAG CCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAG TCCCGTGTACTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAG TCCCGTGTAGCCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EZH2_chr7_148802383_148889291	148869593	C C	CGCTCAAA others(582): Show CGCTCAAAGTGCTGGGATTACTGGCGTGAGCCAATGCACTTGGCCATAAA AGCCCATTCTTCAAGGGCCCACTACCTGAGGGAACCTAGGCAAGTTATTT ACTAATTACTTCATCTGCAAAATGAAGACATCCTCTCTGCAGGCACATAC ATGGTAGATACTCAGTAAACACAAGTTGTTCCATTATTTATTCATCTCAT GCCAGCTAGGGAGAATCTTACCATCACCTGTGATGGTAATCAAACTCTCC AAAGAAATAGTTTGACCTGGGTAACAGAAACCAAGTGCTTAGAATCCTAG TATTTGCACTAAAAAGGACCCTATAGGCAGCAATAGCCTTTTTTTTTTTT TTTTTTTTTGGAGACACAGTCTCACTCTGTCACACAGGCTGGAGTGCAGG GGTGCAAACACGGCTCACTGCAGTCTCTACCTTCTGGGCTCAAGCGACCC TCTCACCTCACTCTCCCATGCAGCTGGGACTACAGGCAAATGCCACCACA TGTGGCTAATTTTTTGTAGAAATGGGGCCTCACTTTGTTGTCCAGGCTGG TCTTGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02055.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0289 a0001c0005t0001g0287 a0001c0001t0001g0289 a0001c0005t0001g0287	2	369	0.0054	589	c.-8+ others(606): Show c.-8+14570_-8+14571insAGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGTTCAAGACCAGCCTGGACAACAAAGTGAGGCCCCATTTCTACAAA AAATTAGCCACATGTGGTGGCATTTGCCTGTAGTCCCAGCTGCATGGGAG AGTGAGGTGAGAGGGTCGCTTGAGCCCAGAAGGTAGAGACTGCAGTGAGC CGTGTTTGCACCCCTGCACTCCAGCCTGTGTGACAGAGTGAGACTGTGTC TCCAAAAAAAAAAAAAAAAAAAAAGGCTATTGCTGCCTATAGGGTCCTTT TTAGTGCAAATACTAGGATTCTAAGCACTTGGTTTCTGTTACCCAGGTCA AACTATTTCTTTGGAGAGTTTGATTACCATCACAGGTGATGGTAAGATTC TCCCTAGCTGGCATGAGATGAATAAATAATGGAACAACTTGTGTTTACTG AGTATCTACCATGTATGTGCCTGCAGAGAGGATGTCTTCATTTTGCAGAT GAAGTAATTAGTAAATAACTTGCCTAGGTTCCCTCAGGTAGTGGGCCCTT GAAGAATGGGCTTTTATGGCCAAGTGCATTGGCTCACGCCAGTAATCCCA GCACTTTGAGC	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	1/19			chr7	TogoVar
FAM153A_chr5_177718364_177787899	177782643	T T	TATCCAAC others(582): Show TATCCAACCCCCAATCCGCGATCCAACCTCCAATCCGCGATCCAAACCCC AATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCCGCGATCC AACTCCCAATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCC GTGATCCAACTCAACATCCGCTATCCAACCCCCAATCCGCGATCCAAACC CCAATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCCGCGAT CCAAACCCCAATCCGCGATCCAACCCCCAATCCGCGATCCAACTCCCAAT CCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCCGTGATCCAAC TCAACATCCGCGATCCAACCCCCAATCCGCGATCCAAACCCCAATCCGCG ATCCAACCCCCAATCCGTGATCCAAATCCCAATCCGTGATCCAACCCCCA ATCCGTGATCCAAACCCCAATCCGTGATCCAAACCCCAATCCGCGATCCA ACCCCCAATCCGTGATCCAACTCAAAATCCCCGATCCAAATCCCAATCCG TGATCCAACCCCCAATCCGCGATCCAACCCCCAATCCGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	28	0.0357	589	c.-33 others(605): Show c.-338+99_-338+100insCACGGATTGGGGGTTGGATCGCGGATTGG GGGTTGGATCACGGATTGGGATTTGGATCGGGGATTTTGAGTTGGATCAC GGATTGGGGGTTGGATCGCGGATTGGGGTTTGGATCACGGATTGGGGTTT GGATCACGGATTGGGGGTTGGATCACGGATTGGGATTTGGATCACGGATT GGGGGTTGGATCGCGGATTGGGGTTTGGATCGCGGATTGGGGGTTGGATC GCGGATGTTGAGTTGGATCACGGATTGGGGGTTGGATCGCGGATTGGGGG TTGGATCGCGGATTGGGAGTTGGATCGCGGATTGGGGGTTGGATCGCGGA TTGGGGTTTGGATCGCGGATTGGGGGTTGGATCGCGGATTGGGGGTTGGA TCGCGGATTGGGGTTTGGATCGCGGATTGGGGGTTGGATAGCGGATGTTG AGTTGGATCACGGATTGGGGGTTGGATCGCGGATTGGGGGTTGGATCGCG GATTGGGAGTTGGATCGCGGATTGGGGGTTGGATCGCGGATTGGGGGTTG GATCGCGGATTGGGGTTTGGATCGCGGATTGGAGGTTGGATCGCGGATTG GGGGTTGGAT	FAM153A	ENSG00000170074.21	transcript	ENST00000697116.2	protein_coding	1/22			chr5	TogoVar
FOXK2_chr17_82514732_82609602	82586355	G G	GGGGGGGA others(582): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGG GGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCAGTG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGG GGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGG AATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAA TGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAATG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0111 a0002c0002t0002g0111	1	293	0.0034	589	c.157 others(606): Show c.1576+155_1576+156insGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCGGGGGGGGAATGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTAGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTAGGCGGAGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCAGT	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(582): Show CACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03579.hp1 HG02622.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0020 a0001c0001t0005 a0001c0003t0020	a0001c0001t0005g0189 a0001c0003t0020g0008 a0001c0001t0005g0189 a0001c0003t0020g0008	2	131	0.0153	589	c.240 others(608): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTC AGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(582): Show CACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAAGCACAGCCCA GCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0202 a0001c0001t0034g0202	1	130	0.0077	589	c.240 others(608): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGCTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTC AGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(582): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0062 a0001c0001t0028g0062	1	130	0.0077	589	c.240 others(608): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGC TAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTC AGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(582): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03471.hp2 NA18968.hp2 others(1): Show HG00621.hp1 HG03471.hp2 NA18968.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0046 a0001c0001t0002g0045 a0001c0001t0002g0153 others(1): Show a0001c0001t0001g0046 a0001c0001t0002g0045 a0001c0001t0002g0153 a0001c0001t0008g0047	4	133	0.0301	589	c.240 others(608): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTC AGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GMDS_chr6_1618806_2250605	1897957	C C	CTTGCCAT others(582): Show CTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACACCT ATCCTGGCCACCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCA TCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGG CCTCCGTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGA CACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCT TGCCATCCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTAT CCTGGCCACCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATC CTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCC TCCGTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACA CCTATCCTGGCCTCCGTTGCCATCCTGGACACCTATCCTGGCCTCCCTTG CCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCC TGGCCTCCGTTGCCATCCTGGACACCTATCCTGGCCTCCG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	163	0.0061	589	c.771 others(608): Show c.771+32145_771+32146insCGGAGGCCAGGATAGGTGTCCAGGAT GGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATA GGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAACG GAGGCCAGGATAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCC AGGATGGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCA GGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGG CAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAACGGAGGCCAGGATAGG TGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGA GGCCAGGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAG GATGGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGG ATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCA AGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTG TCCAGGATGGCAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1898140	T T	TCCCTTGC others(582): Show TCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACA CCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTG CCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACACCTACCC TGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCT GGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCAC CCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACC TATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCC ATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTG GCCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGG ACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCC TTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTA CCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	43	0.0233	589	c.771 others(608): Show c.771+31962_771+31963insTGGCCAGGATAGGTGTCCAGGATGGC AAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGT GTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAG GCCAGGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGG ATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGG TAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAA GGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGT CCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGC CAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGAT GGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGGATA GGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGG GAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCC AGGATGGCAAGGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1898140	T T	TCCCTTGC others(582): Show TCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACA CCTATCCTGGCCACCCTTGCCATCCTGGACACCTATCCTGGCCTCCGTTG CCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTACCC TGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCT GGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTC CCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACACC TATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCC ATCCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTATCCTG GCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGG ACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCC TTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTA CCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	43	0.0233	589	c.771 others(608): Show c.771+31962_771+31963insTGGCCAGGATAGGTGTCCAGGATGGC AAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGT GTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAG GCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGG ATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAACGGAGGCCAGGA TAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAA GGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGT CCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGC CAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGAT GGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGATA GGTGTCCAGGATGGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGG GTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCC AGGATGGCAAGGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GPIHBP1_chr8_143208218_143222170	143218184	A A	ACCCCCAA others(582): Show ACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACC CCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCC AACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACA CCACCCCCACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCA ACACCATCCCCCACACCACCCCCAACACCACCCAACACCACCCCACACCA CCCCCACACCACCCAACACCGCCCCCAACACCACCCCCAACACCACCCCA ACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCAAC ACCATCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCCACACCACCCCCAACACCACC CCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCC AACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACA CCACCCCCAACACCACCCCCAACACCACCCCCAACACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	90	0.0111	589	c.26 others(600): Show c.2666_*2667insCCCCCAACACCACCCCCAACACCACCCCAACACC ACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACC CCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCA ACACCACCCCCAACACCACCCCCACCACCCCCAACACCACCCCAACACCA CCCCAACACCACCCAACACCATCCCCCACACCACCCCCAACACCACCCAA CACCACCCCACACCACCCCCACACCACCCAACACCGCCCCCAACACCACC CCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCATCCCC AACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCAAC ACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCACACC ACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACC CCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCA ACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAAC ACCAC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1015		chr8	TogoVar
GRIN2A_chr16_9748408_10187428	9848749	T T	TTTTAAAT others(582): Show TTTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTT TATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAA AATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATAT TTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACAC TGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATA TATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTA TATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAA TACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTT AAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTG TTTTATATATTTAAATATATAAAATACACTGTTTTATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	100	0.0100	589	c.132 others(608): Show c.1328+1006_1328+1007insTATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTG TATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATA TATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTA TATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAA CAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTT AAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTA TTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATA TAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATA TATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACA GTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAA ATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATT TTATATATTTAAA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GTPBP6_chrX_299759_323796	323694	G G	GTGTGTGT others(582): Show GTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGC CCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGA CGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCA ATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGA GGGCGTCCCCAGGTGGTGAGCTCAGGGACGTTTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCG TTTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTC AGGGACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAA TCTCCTGGGCTCCTGGGTTCCGTTTGCCCTGTTCATAGAGATGGAATGAG GGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGGCC GTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCTTAGAGATGGA ATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0002 a0006c0009t0001g0002	1	143	0.0070	589	c.-49 others(600): Show c.-4908_-4907insTACACACGTCCCTGAGCTCACCACCTGGGGACGC CCTCATTCCATCTCTAAGAACAGGGCAGACGGAACCCAGGAGCCCAGGAG ATTGACGGCCACACACACACACACACACGTCCCTGAGCTCACCACCTGGG GACGCCCTCATTCCATCTCTATGAACAGGGCAAACGGAACCCAGGAGCCC AGGAGATTGACGGCTACACACACACACACACACACACACACACACACAAC GTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAG GGCAAACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACACACACA CACACACACACACACACACACACAAACGTCCCTGAGCTCACCACCTGGGG ACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCA GGAGATTGACGGCTACACACACACACACACACACACACACACACACACAC ACACCGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATG AACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACAC ACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4899		chrX	TogoVar
GTPBP6_chrX_299759_323796	323696	G G	GTGTGTGT others(582): Show GTGTGTGTGTGTGTGGTGTAGCCGTCATCTCCTGGGCTCCTGGGTTCCGT CTGCCCTGTTCATAGAGACGGAATGAGGGCGTCCCCAGGTGGTGAGCTCA GGGACGTTGTTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCT GGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTC CCCAGGTGGTGAGCTCAGGGACGTTTGTGGTGTGTGTGTGGTGTGTGTGG TGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTT TTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCA GGGACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAAT CTCCTGGGCTCCTGGGTTCCGTTTGCCCTGTTCATAGAGATGGAATGAGG GCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTTGTGGCC GTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCTTAGAGATGGA ATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0001 a0003c0033t0001	a0003c0033t0001g0091 a0003c0033t0001g0091	1	153	0.0065	589	c.-49 others(600): Show c.-4910_-4909insTACACACGTCCCTGAGCTCACCACCTGGGGACGC CCTCATTCCATCTCTAAGAACAGGGCAGACGGAACCCAGGAGCCCAGGAG ATTGACGGCCACAACACACACACACACACGTCCCTGAGCTCACCACCTGG GGACGCCCTCATTCCATCTCTATGAACAGGGCAAACGGAACCCAGGAGCC CAGGAGATTGACGGCTACACACACACACACACACACACACACACACACAA CGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACA GGGCAAAACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACACACA CACACACCACACACACCACACACACACCACAAACGTCCCTGAGCTCACCA CCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAG GAGCCCAGGAGATTGACGGCTACACACACACACACACACACACACAACAA CGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCGTCTCTATGAACA GGGCAGACGGAACCCAGGAGCCCAGGAGATGACGGCTACACCACACACAC ACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4901		chrX	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCCTGC others(582): Show TCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0174 a0001c0031t0001g0174	1	212	0.0047	589	c.633 others(606): Show c.633-1163_633-1162insTCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCCTGC others(582): Show TCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0172	1	212	0.0047	589	c.633 others(606): Show c.633-1163_633-1162insTCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCCTGC others(582): Show TCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18995.hp1 NA19057.hp1 others(1): Show HG02080.hp1 NA18995.hp1 NA19057.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0026 a0001c0001 a0001c0002 a0001c0026	a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 a0001c0026t0002	a0001c0001t0002g0082 a0001c0002t0003g0173 a0001c0002t0004g0175 others(1): Show a0001c0001t0002g0082 a0001c0002t0003g0173 a0001c0002t0004g0175 a0001c0026t0002g0038	4	215	0.0186	589	c.633 others(606): Show c.633-1163_633-1162insTCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33323223	A A	ATATATAT others(582): Show ATATATATGGAATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATGGAATATATATATATGGAATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATGTAT ATATATGGAATATATATATATGGAATGTATATATATGGAATATATATATA TGGAATGTATATATATGGAATATATATATGGAATGTATATATGGAATATA TATGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGG AATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGT ATATGTGGAATGTATATATGTGGAATGTATATGTGGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	317	0.0032	589	c.-18 others(600): Show c.-1833_-1832insTATATATGGAATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATATATGGAATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATGTATATATATGGAATATATATATATGGAATGTATATATA TGGAATATATATATATGGAATGTATATATATGGAATATATATATGGAATG TATATATGGAATATATATGGAATGTATATATGTGGAATGTATATATGTGG AATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGT ATATATGTGGAATGTATATGTGGAATGTATATATGTGGAATGTATATGTG GAATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1746		chr21	TogoVar
IP6K1_chr3_49719294_49791542	49746432	G G	GAGGCCGA others(582): Show GAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGC TAACACGGTGAAACCCTGTCTCTAATAAAAATACAAAAAAATTAGCCAGA CGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAATCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACC ACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAAGTGTTGTTTTTTTTTTTTTTTGAGACAG TCTCACTCTGTTGCCCAGGCTACAGTGCAGTGGCACAATCTTGGCTCACC GTAACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTTCCAA GTACCTGGGATTACAGGCATGCACCATCACACCCGGCTAATTTTTGTAGT TTTAGTAGAGACAGGGTTTCACCAAATTGGCCAGGCTGGTCTCGAACCCC GGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGACTGGC CAGGCGTGATGGCTCTCGCCTGTAATCCCAACACTTTGGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp1 HG01109.hp2 others(32): Show HG01070.hp2 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01516.hp1 HG01884.hp2 HG02027.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03516.hp2 NA18906.hp1 NA19043.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014	a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0149 others(30): Show a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0200 a0001c0001t0002g0214 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0007g0148 a0001c0001t0008g0138 a0001c0001t0009g0151 a0001c0001t0010g0177 a0001c0001t0014g0136	35	138	0.2536	589	c.223 others(606): Show c.223+1385_223+1386insTCCAAAGTGTTGGGATTACAGGCGAGAG CCATCACGCCTGGCCAGTCCTAGCACTTTGGGAGGCCGAGGCAGGCAGAT CACTTGAGGTCCGGGGTTCGAGACCAGCCTGGCCAATTTGGTGAAACCCT GTCTCTACTAAAACTACAAAAATTAGCCGGGTGTGATGGTGCATGCCTGT AATCCCAGGTACTTGGAAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGA GGTGGAGGTTACGGTGAGCCAAGATTGTGCCACTGCACTGTAGCCTGGGC AACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAACAACACTTCTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCAGG CTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGA TTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCA CCCACCACCACGTCTGGCTAATTTTTTTGTATTTTTATTAGAGACAGGGT TTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCC TGCCTCGGCCT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	2/5			chr3	TogoVar
IP6K1_chr3_49719294_49791542	49746432	G G	GAGGCCGA others(582): Show GAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGC TAACACGGTGAAACCCTGTCTCTAATAAAAATACAAAAAAATTAGCCAGA CGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAATCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACC ACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAAGTGTTGTTTTTTTTTTTTTTTTGAGACAG TCTCACTCTGTTGCCCAGGCTACAGTGCAGTGGCACAATCTTGGCTCACC GTAACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTTCCAA GTACCTGGGATTACAGGCATGCACCATCACACCCGGCTAATTTTTGTAGT TTTAGTAGAGACAGGGTTTCACCAAATTGGCCAGGCTGGTCTCGAACCCC GGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGACTGGC CAGGCGTGATGGCTCTCGCCTGTAATCCCAACACTTTGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01106.hp2 others(36): Show HG00323.hp2 HG00639.hp2 HG01106.hp2 HG01167.hp2 HG01175.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp2 HG01934.hp2 HG01952.hp2 HG02004.hp1 HG02735.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03710.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18962.hp2 NA18967.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18993.hp1 NA18998.hp1 NA19057.hp1 NA19064.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19088.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0002 a0001c0005t0002 a0003c0003t0002 a0001c0001t0002 a0001c0005t0002 a0003c0003t0002	a0001c0001t0002g0180 a0001c0001t0002g0187 a0001c0001t0002g0188 others(36): Show a0001c0001t0002g0180 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0256 a0001c0005t0002g0248 a0003c0003t0002g0242	39	142	0.2746	589	c.223 others(606): Show c.223+1385_223+1386insTCCAAAGTGTTGGGATTACAGGCGAGAG CCATCACGCCTGGCCAGTCCTAGCACTTTGGGAGGCCGAGGCAGGCAGAT CACTTGAGGTCCGGGGTTCGAGACCAGCCTGGCCAATTTGGTGAAACCCT GTCTCTACTAAAACTACAAAAATTAGCCGGGTGTGATGGTGCATGCCTGT AATCCCAGGTACTTGGAAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGA GGTGGAGGTTACGGTGAGCCAAGATTGTGCCACTGCACTGTAGCCTGGGC AACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAACAACACTTCTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCAGG CTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGA TTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCA CCCACCACCACGTCTGGCTAATTTTTTTGTATTTTTATTAGAGACAGGGT TTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCC TGCCTCGGCCT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	2/5			chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(582): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCT CCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTC CTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTT CCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCC CACCTCCCCCCTCCTCCCACTCCTCCTCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19007.hp1 NA19080.hp2 NA18943.hp1 NA19007.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0144 a0001c0001t0002g0238 a0001c0001t0002g0044 a0001c0001t0002g0144 a0001c0001t0002g0238	3	13	0.2308	589	c.10- others(606): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCC CCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCC CTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCC CCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCCTCCT CCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(582): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGG ACGGGTGTGCAGTGATGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0100 a0001c0020t0001g0100	1	82	0.0122	589	c.153 others(608): Show c.1530-3001_1530-3000insTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAT CACTGCACACCCGTCCCGTGACACCACTGCACACCCATCCCGAGACACCA CTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACT GCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACC CGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(582): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGATGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGG ATGGGTGTGCAGTGATGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0082 a0004c0019t0001g0082	1	82	0.0122	589	c.153 others(608): Show c.1530-3001_1530-3000insTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAT CACTGCACACCCATCCCGTGACACCACTGCACACCCATCCCGAGACACCA CTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACT GCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACC CATCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857728	G G	GAGTGGTG others(582): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGT GCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGG TGTCTCGGGACGGGTGTGCGTGGTGTCACGGGATGGGTGTGCAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0001 a0002c0035t0001	a0002c0035t0001g0280 a0002c0035t0001g0280	1	291	0.0034	589	c.153 others(608): Show c.1530-3023_1530-3022insGCACACCCATCCCGAGACACCACTGC ACACCCATCCCGAGACACCACTGCACACCCATCCCGTGACACCACGCACA CCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTCC CGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCG AGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT CACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(582): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCAGGGGGAAGGGGGAAAGGG GTGGGGGGAAAGGGGGAAGGGGAAAGGGGTGAGGGGAAAGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGGGGAAG GGAGGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGG GAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGA GGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTG GAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAG GGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0006 a0003c0003t0009g0006	1	8	0.1250	589	c.250 others(604): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTCCCT CCCTTCCCTCCCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCC TCCCCCCTCCCTTCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCT CACCCCTTTCCCCCTTCCCCCTTTCCCCTCACCCCTTTCCCCTTCCCCCT TTCCCCCCACCCCTTTCCCCCTTCCCCCTGCCCCTTTTCCCCCCTTCCCC GCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCC GCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCC TTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NCAPG2_chr7_158626169_158709804	158668042	C C	CCTTACCC others(582): Show CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCT CCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCG CCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACC CACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCTGCC CTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTC CCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCTGCCCG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01952.hp2 HG01256.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0291 a0001c0001t0001g0253 a0001c0001t0001g0291	2	254	0.0079	589	c.148 others(608): Show c.1480-3293_1480-3292insCGGGCAGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCAGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAG TGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTG GGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGAC CCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGG CGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCC AGTAGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEU4_chr2_241804193_241822413	241806532	A A	ACCCTCCC others(582): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCGCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCGCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCACTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	211	0.0047	589	c.-27 others(600): Show c.-2746_-2745insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCGCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATG TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCGCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCACTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAT GTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2660		chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136535462	G G	GGTGGGGG others(582): Show GGTGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGA GTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCC TCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTC AGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACT CAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp1 HG02976.hp1 others(1): Show HG02809.hp2 HG02818.hp1 HG02976.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0019 a0001c0044 a0001c0005 a0001c0019 a0001c0044	a0001c0005t0008 a0001c0019t0008 a0001c0044t0008 a0001c0005t0008 a0001c0019t0008 a0001c0044t0008	a0001c0005t0008g0009 a0001c0005t0008g0016 a0001c0019t0008g0007 others(1): Show a0001c0005t0008g0009 a0001c0005t0008g0016 a0001c0019t0008g0007 a0001c0044t0008g0022	4	307	0.0130	589	c.140 others(606): Show c.140+8561_140+8562insTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCA CTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCA CCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCA CCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCC ACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTC CCCTCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGC TCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGC TCCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(582): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTT TAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACT ATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT AGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTTAAACTATATAG TTTAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGT TTATATATAGTTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAA ACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAAC TATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGT AGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTC ATGTAGTTTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTTA AACTAGTTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03195.hp2 HG02723.hp1 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0002 a0002c0004t0001 a0002c0004t0002	a0002c0004t0001g0120 a0002c0004t0002g0121 a0002c0004t0001g0120 a0002c0004t0002g0121	2	39	0.0513	589	c.342 others(608): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTAC ATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTT AAAACTATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAA CTATATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTT AAACTATATAAACTATAGTTTTAAACTATATAAACTATATAGTTTTAAAC TATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTA TATAAACTAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAA CTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACT ATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(582): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGAGGAGGGGGAGGGGAGGG AGAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGAT GGGGAGGGGGAGGGGAGGGGAGGGAGGGGGAAGGGAGGGGATGGGGGAGG GAGAAGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGATGGGGGAGGGGG GAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGAGAAGGGAG GGGGAGGGGATGGGGGGAGGAGAAGGGAGGGGGAGGGGGAGGAGAGGGGG GAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGG GAAGGGAGGGGAAGGGGAGGAGAGGGGAGGAGGAGGAGGGAAGGGGGAGG GGGAGGGGGAGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGG GGGAGGAGGGAGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGAGGGAGGA GGGGGGAGGGAGAGGGGAAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0054 a0007c0023t0054	a0007c0023t0054g0284 a0007c0023t0054g0284	1	142	0.0070	589	c.154 others(606): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTTCCCCT CTCCCTCCCCCCTCCTCCCTCCCTCCCTTCCCCCTCCTCCCCTCCCTTCC CTCCCTCCTCCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTC CCTCCCCCTCCCCCTCCCCCTTCCCTCCTCCTCCTCCCCTCTCCTCCCCT TCCCCTCCCTTCCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCT CCCCTCCCCCTCCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCTCCCCC CATCCCCTCCCCCTCCCTTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTC CCCCCTCCCCTCCCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCCATC CCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCTCCCCTCCC CTCCCCCTCCCCATCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTCCTTC CTCCTCCCCTCTCCCTCCCCTCCCCCTCCTCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCTC CCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
PIGN_chr18_62036164_62192056	62039600	C C	CCATGTTT others(582): Show CCATGTTTAGGGCCCCATCCAGAGTGCCGCACCCCATGATTAGGGCCCAT TCAGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGGGTGCCGCACCCCA TGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCATCCA GAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCCATG TTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCCAGG GTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTT TAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCCAGGG TGCCGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTT AGGGCCCCATCCAGAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGAT GCCGCACCCCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTA GGGCCCAGCCAGGGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGC CGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCGCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00733.hp2 others(48): Show HG00323.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01515.hp1 HG01978.hp1 HG02015.hp1 HG02145.hp1 HG02280.hp1 HG02300.hp2 HG03098.hp2 HG03130.hp1 HG03491.hp1 HG04115.hp2 NA18522.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18954.hp1 NA18955.hp2 NA18964.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18985.hp2 NA18995.hp1 NA19002.hp1 NA19011.hp1 NA19057.hp2 NA19063.hp2 NA19066.hp2 NA19077.hp2 NA19079.hp1 NA19083.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0002 a0002c0002t0008 a0002c0002t0011 others(7): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0011 a0002c0002t0014 a0002c0002t0020 a0002c0002t0031 a0002c0002t0032 a0002c0002t0034 a0002c0002t0036 a0004c0006t0018	a0002c0002t0002g0021 a0002c0002t0002g0037 a0002c0002t0002g0039 others(45): Show a0002c0002t0002g0021 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0104 a0002c0002t0002g0212 a0002c0002t0008g0003 a0002c0002t0008g0024 a0002c0002t0008g0043 a0002c0002t0008g0044 a0002c0002t0008g0047 a0002c0002t0008g0074 a0002c0002t0008g0087 a0002c0002t0011g0001 a0002c0002t0011g0015 a0002c0002t0011g0016 a0002c0002t0011g0017 a0002c0002t0014g0005 a0002c0002t0014g0073 a0002c0002t0014g0126 a0002c0002t0020g0058 a0002c0002t0020g0101 a0002c0002t0031g0079 a0002c0002t0032g0088 a0002c0002t0034g0042 a0002c0002t0036g0057 a0004c0006t0018g0292	51	324	0.1574	589	c.62 others(600): Show c.6255_*6256insATGTGCGGCACCCTGGATGGGGCCCTAAACATGG GGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTGCGGCACCCTGGCT GGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGG TGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGGATGG GGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGT GCGGCACCCTGGATGGGGCCCTAAACATGATGTGCGGCACCCTGGATGGG GCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTG CGGCACCCTGGCTGGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGC CCTAAACATGGGGTGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCG GCACTCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCC TAAACATGGGGTGCGGCACCCTGGATGGGCCCTAAACATGGGGTGCGGCA CCCTGAATGGGCCCTAATCATGGGGTGCGGCACTCTGGATGGGGCCCTAA ACATG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1563		chr18	TogoVar
PIGN_chr18_62036164_62192056	62040255	C C	CCATGATT others(582): Show CCATGATTAGGGCCCATTCAGGGTGCCGCACCCCATGTTTAGGGCCCATC CAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCGCACATCA TGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCATCCA GAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCCATG TTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCCAGG GTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTT TAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCCAGGG TGCCGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTT AGGGCCCCATCCAGAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGAT GCCGCACCCCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTA GGGCCCAGCCAGGGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGC CGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCGCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0037 a0001c0013t0037	a0001c0013t0037g0070 a0001c0013t0037g0070	1	340	0.0029	589	c.56 others(600): Show c.5600_*5601insATGTGCGGCACCCTGGATGGGGCCCTAAACATGG GGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTGCGGCACCCTGGCT GGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGG TGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGGATGG GGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGT GCGGCACCCTGGATGGGGCCCTAAACATGATGTGCGGCACCCTGGATGGG GCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTG CGGCACCCTGGCTGGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGC CCTAAACATGGGGTGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCG GCACTCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCC TAAACATGATGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGTGCGGC ACCCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGAATGGGCCCTAA TCATG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		908		chr18	TogoVar

Search by Variant

Search

Search Results