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
CAMKK1_chr17_3855315_3898053	3868086	T T	TGGGCTCT others(426): Show TGGGCTCTGGGGGAGACGCAGGCCCGTCTAACTGATACGTGGGCACGGGG GAGATGCAGGCACCGTCTAACTGATACGCGGGCTCTGGGGGAGAAGCAGG CGCCGTCTAACTGATACGTGGGCTCTGGGGGAGACGCAGGCCCGTCTAAC TGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGG GCTCTGGGGGAGACGCAGGCCCGTCTAACTGATACGCGGGATCTGGGGGA GACGCAGGCCCGTCTAACTGATACATGGGCTCTGGGGGAGAAGCAGGCGC CGTCTAACTGATACACAGGATCTGGGGGAGAAGCAGGCGCCGTCTAACTG ATACGTGGGCTCTGGGGGAGACGCAGGCCCGTCTAACTGATACGTGGGCA CGGGGGAGATGCAGGCACCGTCTAACTGATACGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0363 a0001c0002t0010g0363	1	446	0.0022	433	c.134 others(452): Show c.1341+1400_1341+1401insGCGTATCAGTTAGACGGTGCCTGCAT CTCCCCCGTGCCCACGTATCAGTTAGACGGGCCTGCGTCTCCCCCAGAGC CCACGTATCAGTTAGACGGCGCCTGCTTCTCCCCCAGATCCTGTGTATCA GTTAGACGGCGCCTGCTTCTCCCCCAGAGCCCATGTATCAGTTAGACGGG CCTGCGTCTCCCCCAGATCCCGCGTATCAGTTAGACGGGCCTGCGTCTCC CCCAGAGCCCACGTATCAGTTAGACGGCGCCTGCTTCTCCCCCAGAGCCC ACGTATCAGTTAGACGGGCCTGCGTCTCCCCCAGAGCCCACGTATCAGTT AGACGGCGCCTGCTTCTCCCCCAGAGCCCGCGTATCAGTTAGACGGTGCC TGCATCTCCCCCGTGCCCACGTATCAGTTAGACGGGCCTGCGTCTCCCCC AGAGCCC	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882003	T T	TGGGGGGA others(426): Show TGGGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCG GGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAA AGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCC GGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCG GGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAG AAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0070 a0002c0004t0001g0070	1	288	0.0035	433	c.303 others(452): Show c.303+24118_303+24119insGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTC CTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTT CCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTC CTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTC TCCCCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882384	G G	GGGGAGAA others(426): Show GGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGC CAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGC GGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAA GGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	288	0.0035	433	c.303 others(452): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTC TCCCCCTGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTT TCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCC TTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(426): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATATATTTATATAAATATATATA TAACATATATATATATTTATATAAATATATATATAACATATATATATTTA TATAAATATATATATAACATATATATATTTATATAAATATATATATAACA TATATATATATTTATATAAATATATATATAACATATATATATTTATATAA ATATATATATAACATATATATATTTATATAAATATATATATAACATATAT ATATTTATATAAATATATATATAACATATATATATTTATATAAATATATA TATAACATATATATATTTATATAAATATATATATAACATATATATATTTA TATAAATATATATATAACATATATATATTTATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	424	0.0024	433	c.-29 others(450): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATATTTATATAAATATATATATAACATATATATATTTATATAAATATAT ATATAACATATATATATATTTATATAAATATATATATAACATATATATAT TTATATAAATATATATATAACATATATATATTTATATAAATATATATATA ACATATATATATTTATATAAATATATATATAACATATATATATTTATATA AATATATATATAACATATATATATTTATATAAATATATATATAACATATA TATATTTATATAAATATATATATAACATATATATATTTATATAAATATAT ATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(426): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCC CTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCC CTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	256	0.0039	433	c.-45 others(454): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCC	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(426): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCC CCTCCCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCT CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCC CTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0246	1	256	0.0039	433	c.-45 others(454): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCTCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCC CTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTTC others(426): Show CCCCCTTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCT CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02723.hp1 HG02258.hp2 HG02559.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043	3	256	0.0117	433	c.-45 others(454): Show c.-455+14580_-455+14581insTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCC CCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC TCTCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CTCTCCCCT	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(426): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTC CCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTT CCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	354	0.0028	433	c.69 others(444): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCCTTCCTCCGTCCCCCTTCC TCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTT CCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTT CCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCC TCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTC CTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(426): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	354	0.0028	433	c.69 others(444): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTC CTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(426): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC CTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0011 a0005c0012t0001g0011	1	354	0.0028	433	c.69 others(444): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTC CTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(426): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC TTTCCTCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTC CTCCTCCTTCCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCC TTCTTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCT CTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCCTCCCTTCC CCCTTCCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	354	0.0028	433	c.69 others(444): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCTTTCCTCCTCCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCCTTCTTCCTCCTCCTTCCCCCCTTCTTCCCTCCCCCCTTCCC CCTTCCTCCCTCCCCTTCTTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCT TCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCC CCCTCCCTCCCTTCCCCCTTCCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCCTTCCCCCTTACCCCCTTCCTCTCTTC CTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(426): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTT TATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18986.hp2 NA19057.hp2 NA18983.hp2 NA18986.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214	3	402	0.0075	433	c.80- others(448): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTTTTAATATATAAAATAAATATTTATTTTAATA TATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTATT TATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAA ATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(426): Show ATATTTATTTTAATATATTAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTT TATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	402	0.0025	433	c.80- others(448): Show c.80-4994_80-4993insTAAATAAATATTTATTTTATATATAAAATA AATATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAA TATTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAAT ATTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTAT TTTATTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATA TAT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(426): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGG ACATGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGG ATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAA GACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGACGTGTGAGGATC ATGGGGGGGACGTGTGAGGATCATGGGGGGACCCATGAGGGTCATGGGGG GACGTGAGGATTGGGGGGACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0028 a0028	a0028c0035 a0028c0035	a0028c0035t0005 a0028c0035t0005	a0028c0035t0005g0076 a0028c0035t0005g0076	1	128	0.0078	433	c.177 others(450): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGAC CCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGAT CATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGAC ATGTGAGGATCATGGGAAGACGTGAGGATCATGGGAAGACGTGAGGATCA TGGGGACGTGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGAC CCATGAGGGTCATGGGGGGACGTGAGGATTGGGGGGACCCGTGAGGATCA TGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE7_chr16_89570758_89602246	89597936	T T	TCTGTCCA others(426): Show TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG CCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC CGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCC CCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACC CATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCA TCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC CGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCATCCACTCACCCA TCCGTCCACTCACCCATCTGTCCACCCATTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0110 a0001c0002t0004g0110	1	348	0.0029	433	c.13 others(444): Show c.1315_*1316insCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCC CCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCAT CCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		691		chr16	TogoVar
CROCC2_chr2_240901336_240998311	240923783	G G	GCCCCCAC others(426): Show GCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTGACCC AGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACC CAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCACACTAAC CCAGTCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAA CCCGGCCCCCCACACTAACCCAGTCCCCACACTATCCCGGCCCCCCACAC TACCCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCAC ACTAACCCGGCCCCCACACTGACCCAGCCCCCCACACTGACCCGGCCCCC ACACTGACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCC CCCACACTAACCCAGCCCCCCACACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0037 a0037	a0037c0033 a0037c0033	a0037c0033t0001 a0037c0033t0001	a0037c0033t0001g0104 a0037c0033t0001g0104	1	350	0.0029	433	c.488 others(450): Show c.488+1170_488+1171insAGTCCCCACACTGACCCAGCCCCCACAC TAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACA CTGACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGTCCCCACACTATCCCGGCCCCCCACACTACCCCGGCCC CCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCGGC CCCCACACTGACCCAGCCCCCCACACTGACCCGGCCCCCACACTGACCCA GCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCCACACTAAC CCAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACT AACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924079	C C	CCCCCACA others(426): Show CCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCC AGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTAAC CCAGCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTAA CCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTA ACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCC CCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAG TCCCCACACTAACCCGGCCCCCACACTAATCCGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0026 a0026	a0026c0039 a0026c0039	a0026c0039t0001 a0026c0039t0001	a0026c0039t0001g0205 a0026c0039t0001g0205	1	350	0.0029	433	c.488 others(450): Show c.488+1438_488+1439insACACTAATCCGGCCCCCACACTAACCCG GCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAAC CCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTGA CCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTA ACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCC CCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAG TCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAATCCG GCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(426): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0003 a0001c0033t0003	a0001c0033t0003g0059 a0001c0033t0003g0059	1	126	0.0079	433	c.416 others(454): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCGTCCTCTCCCCCTCC CCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCC TCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTCACATCC CTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGGGG others(426): Show TGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGGAGGG GGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGGGAGGGG AGGGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGG AGGGGGAGAGGAGGGGGAGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0102 a0001c0102	a0001c0102t0005 a0001c0102t0005	a0001c0102t0005g0034 a0001c0102t0005g0034	1	126	0.0079	433	c.416 others(454): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCCCTC CTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTC CCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTC CCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCAC ATCCCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(426): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGG AGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGG AGGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAGGG GGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0035 a0003c0003t0012g0035	1	216	0.0046	433	c.923 others(452): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCC CTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCC CCATCCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCT CCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397652	C C	CGGGGTGG others(426): Show CGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGG GGTGGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	367	0.0027	433	c.-43 others(444): Show c.-4312_-4311insGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4232		chr16	TogoVar
DIP2C_chr10_269201_694668	321685	C C	CCAGCGAG others(426): Show CCAGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTC CGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGC GGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGG CGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGT GAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCA AGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGA GAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAG AGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	88	0.0114	433	c.392 others(452): Show c.3924+5320_3924+5321insCACCCCCGACTGACTGTTCTAACAGC GCCGGTCTCTCACTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACG CCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACAC TGGTCTCTTGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCC GGTCTCTCACTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGCCG GTCTCTCGCCGGACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGG TCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGT CTCTCGCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAACACTGGTC TCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACACTGGTCT CTCGCTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948008	G G	GTGGTGAT others(426): Show GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0002 a0001c0041t0002	a0001c0041t0002g0103 a0001c0041t0002g0103	1	136	0.0074	433	c.47- others(450): Show c.47-22689_47-22688insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTG GTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
EEF1A2_chr20_63483014_63504083	63487068	T T	TCCTCCAC others(426): Show TCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCA CCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCCCCCCGAC CCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTC CGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATC CTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGG AGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGC CCACCTTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCTT CCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCA GACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02886.hp2 HG02976.hp1 others(1): Show HG02145.hp1 HG02886.hp2 HG02976.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0042 a0001c0001t0001g0043	4	374	0.0107	433	c.12 others(444): Show c.1229_*1230insTTGGGCAGCTTCCCTGAGGATGCAGAGGAGGGTC TGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTGGGGTGG AAGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAAGGTGG GCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCT CCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCTTGAG GATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGCG GAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATACAGAGGAGG GTCGGGGGGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGG TGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		945		chr20	TogoVar
EHMT1_chr9_137614005_137841127	137716082	G G	GTGGTGGG others(426): Show GTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAATTGTG GTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAATTG TGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0063 a0001c0005t0001g0063	1	170	0.0059	433	c.86- others(446): Show c.86-524_86-523insTTGGTGTCATGGTGGGGGAGGAAATTGTGGTG TCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAATTGTGG TGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT G	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FBN2_chr5_128252909_128543245	128540067	C C	CATATATC others(426): Show CATATATCATATATATCATATATATCATATATCATATATATCATATATAT CATATATCATATATATCATATATCATATATATTATATATCATATATATCA TATATATTATATATCATATATCATATATATCATATATATTATATATCATA TATCATATATCATATATATCATATATATCATATATCATATATCATATATA TCATATATATCATATATCATATATCATATATATCATATATCATATATATC ATATATCATATATATCATATATCATATATCATATATATCATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATCATAT ATATCAATCATATATATTATATATCATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0008 a0003c0015t0008	a0003c0015t0008g0024 a0003c0015t0008g0024	1	236	0.0042	433	c.-24 others(444): Show c.-2465_-2464insATGATATATGATATATAATATATATGATTGATAT ATATGATATATGATATATATGATATATATGATATATGATATATATGATAT ATATGATATATGATATATATGATATATATGATATATGATATATATGATAT ATATGATATATGATATATATGATATATGATATATGATATATATGATATAT GATATATATGATATATGATATATATGATATATGATATATGATATATATGA TATATATGATATATGATATATGATATATATGATATATATGATATATGATA TATGATATATAATATATATGATATATATGATATATGATATATAATATATA TGATATATATGATATATAATATATATGATATATGATATATATGATATATG ATATATATGATATATATGATATATGATATATATGATATATATGATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1823		chr5	TogoVar
FHIT_chr3_59742277_61256452	60860593	A A	ATACATAT others(426): Show ATACATATGATGTATGTCATGTATACATATGATGTATGTCATGTATACAT ATGATGTATGTCATGTATACATATGATGTATGTCATGTATACATATGATG TATGTCATGTATACATATGATGTATGTCATGTATACATATGATGTATGTC ATGTATACATATGATGTATGTCATGTATACATATGATGTATCTCATGTAT ACATATGATGTATCTCATGTATACATATGATGTATCTCATGTATACATAT GATGTATCTCATGTATACATATGATGTATCTCATGTATACATATGATGTA TCTCATGTATACATATGATGTATCTCATGTATACATATGATGTATCTCAT GTATACATATGATGTATCTCATGTATACATATGATGTATCTCATGTATAC ATATGATGTATCTCATGTATACATATGATGTATC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0044 a0001c0002t0005g0044	1	46	0.0217	433	c.-11 others(454): Show c.-110-38583_-110-38582insGATACATCATATGTATACATGAGA TACATCATATGTATACATGAGATACATCATATGTATACATGAGATACATC ATATGTATACATGAGATACATCATATGTATACATGAGATACATCATATGT ATACATGAGATACATCATATGTATACATGAGATACATCATATGTATACAT GAGATACATCATATGTATACATGAGATACATCATATGTATACATGAGATA CATCATATGTATACATGAGATACATCATATGTATACATGACATACATCAT ATGTATACATGACATACATCATATGTATACATGACATACATCATATGTAT ACATGACATACATCATATGTATACATGACATACATCATATGTATACATGA CATACATCATATGTATACATGACATACATCATATGTATACATGACATACA TCATATGTA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FOXK2_chr17_82514732_82609602	82586304	C C	CCGGGGGG others(426): Show CCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGG AGGAGAGGGGGAGACCACAGGGAGGTGAAAGGTAGGCGGAGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0242 a0005c0005t0005g0242	1	308	0.0033	433	c.157 others(450): Show c.1576+142_1576+143insGAAAGGTGGGCGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTCAAAGGTAGGCGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTCAAAGGTAGGCGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGGAGACCA CAGGGAGGTGAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTAGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGT	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(426): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACATATACACACATACACCCATACACACAC ATCATACACACACACACCACACACATACACCACACACACCACACATGCAC ACACACCACACACATATATACGCATACACCCATACACACATCATACACAC ACCACACACACCACACATGCACACCACACACATACACGCATACACCCATA CACACACATCATACACACACACACCACACACACCACACACATATACGCAT ACACCCATACACACACATCATACACACACATACACCACACACACCACACA CGCACACCACACACATATACACACATACACCCATGCACACACATCATACA CACACAAACCACACATACCACACACATACACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01884.hp1 HG01934.hp2 others(4): Show HG00423.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG02148.hp2 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0227 a0001c0001t0001g0308 a0001c0001t0001g0311 others(4): Show a0001c0001t0001g0227 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0002t0001g0085 a0001c0002t0001g0107 a0001c0002t0001g0119 a0001c0002t0001g0133	7	414	0.0169	433	c.32 others(444): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCG TGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGT ATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTG TATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGT GTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGT GTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGAT GTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGTGTGTGTATG GGTGTGTGCGTATATATGTGTGTGGTGTGTGTGTGTATGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(426): Show AGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGC GGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGCGGGGC TGGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCAGGAGCGGGTGAGGG GCGGGGGAGGGCCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGG GCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGCGG GGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGCGGGGCTG GGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGAGGGGGAGGGGAG AGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03540.hp1 NA19030.hp1 HG03516.hp2 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0004g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0004g0043	3	288	0.0104	433	c.-39 others(442): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCA GCCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCCC GCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCCC CTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGGCCCTCCCCCGCCC CTCACCCGCTCCTGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCCAGC CCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCCCGC TCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCCCCT CCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GTPBP6_chrX_299759_323796	321891	C C	CAAAAAAA others(426): Show CAAAAAAAAAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGG GTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGA GCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCT ACAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTACCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAA AAAAAAAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCG GGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCAT GGGCAATATGGTAAGACCCTATTATCTACAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	155	0.0065	433	c.-31 others(444): Show c.-3105_-3104insTTTTTGTAGATAATAGGGTCTTACCATATTGCCC ATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCC CGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTTTTTTT TTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAA CTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGAC CACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTTGT AGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGC TCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCAC CCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3096		chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(426): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18971.hp2 NA18951.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0173 a0001c0001t0003g0026 a0001c0001t0003g0173	2	323	0.0062	433	c.-36 others(444): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATAC ATGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(426): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0254 a0001c0002t0002g0254	1	282	0.0036	433	c.623 others(450): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGG GGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGAGGGGAGG CGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KIAA0930_chr22_45187244_45245894	45229320	T T	TCCCCACC others(426): Show TCCCCACCACCACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACTAA ACACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACTTGAG AGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCCCC ATCCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCA ACCACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCAC CTGAAAGATCCCTCTCCACATCCCCACCACCACTCACCTGAAAGATCCCT CTCCACCCCCCCACCACTAAACACTCACCCGAAAGATCCCTCTCCATGCC CCCCCACCACCAAACACTCACCTGAAAGATCCCTCTCCACCCCCCCACCA CCAAACACTCACCTGAAAGATCCCTCTCCACCCC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0003 a0006c0013t0003	a0006c0013t0003g0304 a0006c0013t0003g0304	1	398	0.0025	433	c.64+ others(450): Show c.64+11319_64+11320insGGGGTGGAGAGGGATCTTTCAGGTGAGT GTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGTGG TGGGGGGGCATGGAGAGGGATCTTTCGGGTGAGTGTTTAGTGGTGGGGGG GTGGAGAGGGATCTTTCAGGTGAGTGGTGGTGGGGATGTGGAGAGGGATC TTTCAGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGT GGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGG GGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAG GGATCTCTCAAGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGT GAGTGTTTAGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGGTGG TGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(426): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGG TCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATAGGGTCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	375	0.0027	433	c.-22 others(444): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGA GATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(426): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACATATACACACATACACCCATACACACAC ATCATACACACACACACCACACACATACACCACACACACCACACATGCAC ACACACCACACACATATATACGCATACACCCATACACACATCATACACAC ACCACACACACCACACATGCACACCACACACATACACGCATACACCCATA CACACACATCATACACACACACACCACACACACCACACACATATACGCAT ACACCCATACACACACATCATACACACACATACACCACACACACCACACA CGCACACCACACACATATACACACATACACCCATGCACACACATCATACA CACACAAACCACACATACCACACACATACACCAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01884.hp1 HG01934.hp2 others(5): Show HG00423.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG02148.hp1 HG03579.hp2 HG03704.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 others(1): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009	a0002c0002t0002g0063 a0002c0002t0006g0062 a0002c0002t0007g0060 others(3): Show a0002c0002t0002g0063 a0002c0002t0006g0062 a0002c0002t0007g0060 a0002c0002t0009g0031 a0002c0002t0009g0033 a0002c0002t0009g0064	8	400	0.0200	433	c.-39 others(450): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTGTGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGG TGTGCGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTAT GGGTGTATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATG TGTGTGTATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTG TGTGGTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTG GTGTGTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTG TATGATGTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGTGTG TGTATGGGTGTGTGCGTATATATGTGTGTGGTGTGTGTGTGTATGATGTG TGTGT	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
KLHL32_chr6_96919728_97145753	97093677	C C	CTGAGGGT others(426): Show CTGAGGGTCTTTCTTTTTTTTTTTTTCTTTTTTTTTTTTTTTATTATACT CTCAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTAT ACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTA GGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGT CCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCA ATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCG ATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAG GATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATAT CCACATTTTCTTAATCCAGACTATCATTGTTGGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0163 a0002c0002t0038g0163	1	244	0.0041	433	c.627 others(450): Show c.627+8350_627+8351insTTTTTTTTTTTCTTTTTTTTTTTTTTTA TTATACTCTCAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACA TATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCT AGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCA CCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCA TTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGT TCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCC TACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGG TGTATATCCACATTTTCTTAATCCAGACTATCATTGTTGGATGAGGGTCT TTCTT	KLHL32	ENSG00000186231.17	transcript	ENST00000369261.9	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(426): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGG GGGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATG AGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAG GAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGAGAGGGG AGGAGGGGGAGGAGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGA GGAAGAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	316	0.0032	433	c.583 others(448): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCTCCTCCCCC TCCTCCCCTCTCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTT TCTCCTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCT TCCTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTC TCCCCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCCTCCTTCTT CCTCTTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCA TCTCCCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCC TCTCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCT CTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(426): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTAGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGGTGATGACGGTGATGTGGGGGTGATGAC GGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGG TGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGGTGGGG GTGGGGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGG GGTGATGATGGTGATGGTAGGGGTGATGATGGTGGGGGTGGGGGTGGGGG TGGGGGTGAGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGG GTGATGACGGTGGGGGTGGGGGTGATGACGGTGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0052 a0052	a0052c0033 a0052c0033	a0052c0033t0001 a0052c0033t0001	a0052c0033t0001g0181 a0052c0033t0001g0181	1	186	0.0054	433	c.956 others(450): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCCCCACCCCCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCCCTACCATCACCATC ATCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CCCCACCCCCACCACCCTCACCATCATCACCCCCACCCCCACCATCATCA CCCCCACCATCACCATCATCACCCCCACCCCCACCGTCATCACCCCCACC CCCACCGTCATCACCCCCACATCACCGTCATCACCCCCCCCACCCCCATC ATCACCGTCATCACCCCTACCGTCATCACCCCCAGCCCCACCGTCATCAC CCCCACCATCACCATCATCACCCCCACCCCCACCATCACCACCCCCACCC CCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124471486	A A	ATATATAT others(426): Show ATATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATA TTACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTAT ATATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATATTTATATATATTTATGTATA TTTATATATATTTATATATTTATGTATATATTTATATATATTTATATATT TATGTATAAATTTATATATATTTATATGTATTTTATATATATATTTATAT GTATTTATATATATTTATATATTTATATGTATTTATACATATATATTTAT ATGTATTTATATATATTTATATATATTTTTTATG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	260	0.0039	433	c.125 others(450): Show c.125+9502_125+9503insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TTATATATATATTTATATGTATTTATATATATTTATATATTTATATGTAT TTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTA TGTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471609	A A	ATTTATAT others(426): Show ATTTATATATAGTTATATATATTTATGTATAGTTATATATAGTTATGTAT AGTTATATATAGTTATATATATAGTTATATATAGTTATATATATAGTTAT ATATATATTTTTATATATATTTATATTTATATATATATTTTTATATATAT ATTTATATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATAAATATATATATAAATATATATATTTATAT ATATATTTATATATATATTTATATATTTATATATGTATTTATATATATTT ATATATGTATTTATATATATTTATATATATTTATATGTATTTATATATAT TTATATATATTTATATATATAAATATAAATATATTTATATATAAATATAT TTATATATATTTATATAAATATATTTATGTATAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	260	0.0039	433	c.125 others(450): Show c.125+9624_125+9625insTATATATAGTTATATATATTTATGTATA GTTATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTATATA TAGTTATATATATAGTTATATATATATTTTTATATATATTTATATTTATA TATATATTTTTATATATATATTTATATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATAAATATATATA TAAATATATATATTTATATATATATTTATATATATATTTATATATTTATA TATGTATTTATATATATTTATATATGTATTTATATATATTTATATATATT TATATGTATTTATATATATTTATATATATTTATATATATAAATATAAATA TATTTATATATAAATATATTTATATATATTTATATAAATATATTTATGTA TATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471609	A A	ATTTTTAT others(426): Show ATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTATGT ATAGTTATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTAT ATATAGTTATATATATAGTTATATATATATTTTTATATATATTTATATTT ATATATATATTTATATATATATATTTATATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATATTTATATATATATTTATAT ATTTATATATGTATTTATATATATTTATATATGTATTTATATATATTTAT ATATATTTATATGTATTTATATATATTTATATATATTTATATATATAAAT ATAAATATATTTATATATATAAATATAAATATATTTATATATAAATATAT TTATATATATTTATATAAATATATTTATGTATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	260	0.0039	433	c.125 others(450): Show c.125+9624_125+9625insTTTATATATAGTTATATATATTTATATA TAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATA TAGTTATATATATAGTTATATATAGTTATATATATAGTTATATATATATT TTTATATATATTTATATTTATATATATATTTATATATATATATTTATATA TATATTTATATATATATTTATATATATTTATATATATATTTATATATATA TTTATATATATATTTATATATTTATATATGTATTTATATATATTTATATA TGTATTTATATATATTTATATATATTTATATGTATTTATATATATTTATA TATATTTATATATATAAATATAAATATATTTATATATATAAATATAAATA TATTTATATATAAATATATTTATATATATTTATATAAATATATTTATGTA TATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471609	A A	ATTTTTAT others(426): Show ATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTATGT ATAGTTATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTAT ATATAGTTATATATATAGTTATATATATATTTTTATATATATTTATATTT ATATATATATTTATATATATATATTTATATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATATTTATATATATATTTATAT ATTTATATATGTATTTATATATATTTATATATGTATTTATATATATTTAT ATATATTTATATGTATTTATATATATTTATATATATTTATATATATATAT ATAAATATATTTATATATATAAATATAAATATATTTATATATAAATATAT TTATATATATTTATATAAATATATTTATGTATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	260	0.0039	433	c.125 others(450): Show c.125+9624_125+9625insTTTATATATAGTTATATATATTTATATA TAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATA TAGTTATATATATAGTTATATATAGTTATATATATAGTTATATATATATT TTTATATATATTTATATTTATATATATATTTATATATATATATTTATATA TATATTTATATATATATTTATATATATTTATATATATATTTATATATATA TTTATATATATATTTATATATTTATATATGTATTTATATATATTTATATA TGTATTTATATATATTTATATATATTTATATGTATTTATATATATTTATA TATATTTATATATATATATATAAATATATTTATATATATAAATATAAATA TATTTATATATAAATATATTTATATATATTTATATAAATATATTTATGTA TATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC74A_chr14_76821408_76875304	76867087	T T	TGTGTGTG others(426): Show TGTGTGTGTGTGGGGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGG TGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTGGGGGGGTGTGTG TGTTGGGGGTGGGGTGTGTGGTAGTGTGTGTGGGGGAGTGTGTGTGTTGG GGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTG TTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGTGTTGGGGGGATGGGG TGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTG TGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGT GTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGT GTGTGTGTGTGTGGGGTGTGTGTTGGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	408	0.0025	433	c.130 others(450): Show c.1309-260_1309-259insTGGGGTGTGTGTTGGGGGGTGGGGTGTG TGTGTGGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTG GGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGGTAGTGTGTGTGGGGGAG TGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGG TGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGTGTT GGGGGGATGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGG GGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGT GTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGTGT GTGGGGGGGTGTGTGTGTGTGTGTGGGGTGTGTGTTGGGGGGTGGGGTGT GTGTG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LSS_chr21_46183446_46233774	46184511	C C	CCAACCCA others(426): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGTACTCAGGACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA19056.hp1 NA18966.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	358	0.0056	433	c.65 others(444): Show c.6592_*6593insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGG TGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3934		chr21	TogoVar
LSS_chr21_46183446_46233774	46184511	C C	CCAACCCA others(426): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGTACTCAGGACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(132): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG00738.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19056.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0007 a0010 a0014 a0015 a0018 a0019 a0020 a0021	a0001c0001 a0001c0004 a0001c0006 others(13): Show a0001c0001 a0001c0004 a0001c0006 a0001c0014 a0002c0002 a0003c0003 a0004c0007 a0004c0026 a0007c0030 a0010c0022 a0014c0021 a0015c0028 a0018c0017 a0019c0032 a0020c0023 a0021c0033	a0001c0001t0001 a0001c0001t0017 a0001c0001t0023 others(20): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0023 a0001c0001t0028 a0001c0004t0003 a0001c0006t0001 a0001c0006t0005 a0001c0014t0001 a0001c0014t0025 a0002c0002t0002 a0003c0003t0001 a0003c0003t0015 a0003c0003t0027 a0004c0007t0005 a0004c0026t0001 a0007c0030t0001 a0010c0022t0001 a0014c0021t0020 a0015c0028t0013 a0018c0017t0001 a0019c0032t0001 a0020c0023t0001 a0021c0033t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0026 others(107): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0242 a0001c0001t0017g0180 a0001c0001t0023g0194 a0001c0001t0028g0186 a0001c0004t0003g0007 a0001c0004t0003g0141 a0001c0006t0001g0069 a0001c0006t0005g0048 a0001c0006t0005g0055 a0001c0014t0001g0126 a0001c0014t0025g0184 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0079 a0002c0002t0002g0087 a0003c0003t0001g0009 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0118 a0003c0003t0001g0133 a0003c0003t0001g0223 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0238 a0003c0003t0001g0241 a0003c0003t0001g0243 a0003c0003t0015g0228 a0003c0003t0015g0233 a0003c0003t0027g0236 a0004c0007t0005g0012 a0004c0007t0005g0046 a0004c0007t0005g0050 a0004c0007t0005g0051 a0004c0007t0005g0052 a0004c0007t0005g0053 a0004c0007t0005g0054 a0004c0007t0005g0058 a0004c0007t0005g0265 a0004c0007t0005g0285 a0004c0026t0001g0189 a0007c0030t0001g0200 a0010c0022t0001g0174 a0014c0021t0020g0202 a0015c0028t0013g0100 a0018c0017t0001g0125 a0019c0032t0001g0237 a0020c0023t0001g0172 a0021c0033t0001g0206	135	358	0.3771	433	c.65 others(444): Show c.6592_*6593insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGG TGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3934		chr21	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTC others(426): Show TATAATTCTATGTAATTTTATATAGTTACATATAATTATCTGTAATTTTA TATAGTTATATATAATTATCTGTAATTTTATATAGTTATATATAATTATA TGTAATTTTATATGGTTATATATAATTATACGTAGTTTTACATAGTTATA TATAGTTATAACTATATGTAGTTATATATAATTATATATAATTTATATAC TTATAAATATGTAATTATATATGTTATAATTATAAATATATATAATATAA ATATACAATACATTTTATATAATATATATAGTATAATACAAAATATACAT TATAATATATTATATAAAAATATTATAATATATAATAATATATATTATAA TATATATAATATATATAATATATTATAATATATATTATATATAGTATAAT ATATATATTATAATTTATACTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0053 a0003c0020t0001g0053	1	152	0.0066	433	c.299 others(454): Show c.2992-19616_2992-19615insAATTCTATGTAATTTTATATAGTT ACATATAATTATCTGTAATTTTATATAGTTATATATAATTATCTGTAATT TTATATAGTTATATATAATTATATGTAATTTTATATGGTTATATATAATT ATACGTAGTTTTACATAGTTATATATAGTTATAACTATATGTAGTTATAT ATAATTATATATAATTTATATACTTATAAATATGTAATTATATATGTTAT AATTATAAATATATATAATATAAATATACAATACATTTTATATAATATAT ATAGTATAATACAAAATATACATTATAATATATTATATAAAAATATTATA ATATATAATAATATATATTATAATATATATAATATATATAATATATTATA ATATATATTATATATAGTATAATATATATATTATAATTTATACTATATAT AATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315454	C C	CTATAATT others(426): Show CTATAATTTATAGAAATATAATTTATATAAATATATAAATATAATTTATA GAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATGTATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0050 a0050	a0050c0103 a0050c0103	a0050c0103t0001 a0050c0103t0001	a0050c0103t0001g0007 a0050c0103t0001g0007	1	152	0.0066	433	c.342 others(452): Show c.3420-8484_3420-8483insGAAATATAATTTATATAAATATATAA ATATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATA GAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATGTATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP3K15_chrX_19355059_19520508	19478032	G G	GGGGGAGA others(426): Show GGGGGAGAGAGGGGGGGAGAGAGGGGGAGAGGGGGGAGAGGGGGAGGGGA GAGGGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGG GAAGGGGGAGAGGGGGGAGGGGGAGAGGGGGGGAGGGGGAGAGGGGGGGA GGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGAGAGGGGGGAGGGGGGAG GGGGGAGAGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGAGAG AGGGGGGAGGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGA GGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGGAGAGGGGGGAGGG GGGAGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGG GAGAGGGGGAGGGGGGAGAGGGGGAGGGGGGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0004 a0002c0016t0004	a0002c0016t0004g0014 a0002c0016t0004g0014	1	163	0.0061	433	c.525 others(450): Show c.525+8449_525+8450insTCTCCCCCCTCCCCCTCTCCCCCCTCCC CCTCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCC TCTCCCCCCTCCCCCCTCTCCCCCCCTCCCCCCTCCCCCCTCTCCCCCCT CCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTCCCCCTC CCCCCTCTCTCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCTC TCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCCTCT CCCCCCTCCCCCCCTCTCCCCCTCCCCCCCTCTCCCCCTCCCCCCTCTCC CCCTTCCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCC CCCCTCTCCCCTCCCCCTCTCCCCCCTCTCCCCCTCTCTCCCCCCCTCTC TCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(426): Show GCGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCAGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTCCC TTCCGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18957.hp1 NA19004.hp2 NA18944.hp2 NA18957.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0060 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0060	3	300	0.0100	433	c.134 others(452): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCC ATCCGGAAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCTGCCCCATCTGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CACCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar

Search by Variant

Search

Search Results