Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(564): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTAAGACAGAGTC GGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGC GGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGA GTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0224 a0001c0005t0003g0224	1	388	0.0026	571	c.272 others(588): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGA GATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(564): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTAAGACAGAGTC GGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGC GGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGA GTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0343 a0001c0001t0002g0343	1	388	0.0026	571	c.272 others(588): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGA GATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
ZFPM1_chr16_88448280_88542031	88461004	G G	GGACCGAG others(564): Show GGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGG GAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGATGACCGA GGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCT GGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGG GGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGATG ACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGA GGCCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGG GGCGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGG TGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGA GGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCA GGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACC GAGGGGCGGGAGGCCTGGTGAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0000 a0000	a0000c0045 a0000c0045	a0000c0045t0007 a0000c0045t0007	a0000c0045t0007g0105 a0000c0045t0007g0105	1	318	0.0031	571	c.40+ others(586): Show c.40+7336_40+7337insCGGGGCGGGAGGCCTGGTGATGACCGAGGG GCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGT GATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGC GGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACC GAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGC CTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGC GGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGA GGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGG GAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGA GGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGAC CAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTG GTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(564): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACGTATATATACGTATATATACACATATATACATGTATATATACA CGTATATATACACATATATACATGTATATATACATGTATATATACGTACG TATATATACATGTATATATACGTACGTATATATACACATATATACATGTG TATATATGTGTATATATACACATATATACATGTATATATATATACGTATA TATACATATATACGTATATATATATACGTATATATACATATATACATGTA TATATATATACGTATATACACATATATATACATGTATATATATATACGTA TATACACATATATATACATGTATATATATATATGTGTATATATACATGTA TATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	383	0.0026	571	c.-42 others(582): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACGTATATATACGTATATATACACATATAT ACATGTATATATACACGTATATATACACATATATACATGTATATATACAT GTATATATACGTACGTATATATACATGTATATATACGTACGTATATATAC ACATATATACATGTGTATATATGTGTATATATACACATATATACATGTAT ATATATATACGTATATATACATATATACGTATATATATATACGTATATAT ACATATATACATGTATATATATATACGTATATACACATATATATACATGT ATATATATATACGTATATACACATATATATACATGTATATATATATATGT GTATATATACATGTATATATACATATATATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975303	T T	TTATAGAT others(565): Show TTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAAT ATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATAT AAATATTTATATATTTATAGATAAATATATAAATATATAAATATTTTTAT ATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAA ATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAAT ATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTT ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAAT ATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTT ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0058 a0004c0058	a0004c0058t0001 a0004c0058t0001	a0004c0058t0001g0098 a0004c0058t0001g0098	1	306	0.0033	572	c.130 others(591): Show c.1308+1273_1308+1274insTATATTTATCTATAAATATAAAAATA TTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATT TATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATA TTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATT TATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATA TTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTA TCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATA AAAATATTTATATATTTATATATTTATCTATAAATATATAAATATTTATA TATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATT TATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1053314	T T	TTCACAGG others(565): Show TTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACA GGGTCAGAGGGAGGGTTCAAGAAGGGGCTGGGGGAGGGCTCACAGGGTCA GAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGA GGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGCCAGAGGGAGGGTTC CGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAG GGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCAAGAAGGGGCTG GGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAG GGGTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCA CAGGGTCAGAGGGAGGGTTCCGGAACGGGCTGGGGGAGGGTTCACAGGGT CAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGG GAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGT TCGAGAAGGGGCTGGGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0085 a0001c0002t0085	a0001c0002t0085g0328 a0001c0002t0085g0328	1	337	0.0030	572	c.156 others(591): Show c.1562-2681_1562-2680insGCCCTCCCCCAGCCCCTTCTCGAACC CTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAACCCTCCCT CTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACC CTGTGAACCCTCCCCCAGCCCGTTCCGGAACCCTCCCTCTGACCCTGTGA GCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGACCCCTC CCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAG CCCCTTCTTGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTT CCGGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAA CCCTCCCTCTGGCCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCC CTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGA CCCTGTGAGCCCTCCCCCAGCCCCTTCTTGAACCCTCCCTCTGACCCTGT GAACCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289181	T T	TCCGTCCC others(565): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	295	0.0034	572	c.43 others(583): Show c.4382_*4383insGGCAGAGACACGGGACGGAGCAGGGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGACACGGGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGG GGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACG GGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGGGACGGGG CAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGAGCAGGGACACGGGACGGAGCAGACACGGGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3209		chr1	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CCGTGACC others(565): Show CCGTGACCACACACCAGCAGTGAGCACTTCCCACCCCCGTGACCACACAC TAGCAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTT CCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACC ACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACACACCAGCAGTG AGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCC CTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATT TACAGCGAGCACTTCCCACCCCCGTGACCACACACCAGCAGTGAGCACTT CCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACC ACACACTGGCGGCGACCATTTCCCACCCCCGTGACCACGCACTGGCGGCG ACCATTTCCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCC CCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATT TACAGTGAGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0046 a0001c0001t0011g0046	1	246	0.0041	572	c.-21 others(583): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTG CGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACT GCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGT GCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCTGGTG TGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGT GGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACC GCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCA CGGGGGTGGGAAGTGCTCACTGCTGGTGTGTGGTCACG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1952		chr8	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TCCCCTCC others(565): Show TCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGC CCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCT CCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTC CTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGC CCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCC CCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCC TCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTG CCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCC CTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCT CCCCTCCTCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02976.hp2 NA18522.hp1 HG00639.hp1 HG02976.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0041 a0001c0004t0005g0138 a0001c0004t0005g0185 a0001c0004t0005g0041 a0001c0004t0005g0138 a0001c0004t0005g0185	3	210	0.0143	572	c.273 others(589): Show c.2734+177_2734+178insCCCCTCCTGCCCCCTTCCCCTCCTGCCC TCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCT GCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGC CCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTC CTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCCT CCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCC TCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCC TCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGC CCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCC TACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCC CCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27			chr2	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(565): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGA CGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	391	0.0026	572	c.36 others(583): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGA GCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGC AGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCC CCGTCCGGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2107132	G G	GGAGGGTT others(565): Show GGAGGGTTTCCACCTCAGCTGGGGTGTCCTGAAGCCACTGGGTGCTCACC CTGGAGAGGGTTTCCACCTCAGCTGGGGTGTCCTGAAGCCGCTGGGCGTC CTTAAGCCACTGGGCGCCCACCCTGGAGAGAGTTTCCACCTCAGCTGGGC GTCCTGAAGCCACTGGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTG GGGTGTGCTGAAACCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCA GCTGGGCGTCCTGAAGCCACTGGGTGCTCACCCTGGAGAGGGTTTCCACC TCAGCTGGGGTGTCCTGAAGCCACTGGGTGCTCACCCTGGAGAGGGTTTC CACCTCAGCTGGGGTGTCCTGAAGCCGCTGGGCGTCCTTAAGCCACTGGG CGCCCACCCTGGAGAGAGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACT GGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTGGGGTGTGCTGAAAC CACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGCGTCCTGA AGCCACTGGGTGCTCACCCTGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0027 a0001c0021t0027	a0001c0021t0027g0087 a0001c0021t0027g0087	1	104	0.0096	572	c.50- others(587): Show c.50-7780_50-7779insCCTGAAGCCACTGGGTGCTCACCCTGGAGA GGGTTTCCACCTCAGCTGGGGTGTCCTGAAGCCGCTGGGCGTCCTTAAGC CACTGGGCGCCCACCCTGGAGAGAGTTTCCACCTCAGCTGGGCGTCCTGA AGCCACTGGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTGGGGTGTG CTGAAACCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGC GTCCTGAAGCCACTGGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTG GGGTGTCCTGAAGCCACTGGGTGCTCACCCTGGAGAGGGTTTCCACCTCA GCTGGGGTGTCCTGAAGCCGCTGGGCGTCCTTAAGCCACTGGGCGCCCAC CCTGGAGAGAGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACTGGGTGCT CACCCTGGAGAGGGTTTCCACCTCAGCTGGGGTGTGCTGAAACCACTGGG CGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACT GGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTGGGGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CASZ1_chr1_10631604_10801646	10744731	C C	CACCACGA others(565): Show CACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCA CCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACC ACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCAC GAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGA GCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGC AGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAG GCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGC ATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCAT GTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGT CCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCC TGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG GGCACCACGAGCAGGCATGTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	236	0.0042	572	c.-77 others(591): Show c.-77+15969_-77+15970insAGGACATGCCTGCTCGTGGTGCCCAG GACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGA CATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACA TGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATG CCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCC TGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTG CTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCT CGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCG TGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTG GTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGT GCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGC CCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(565): Show CACTATATATAGTAGTTATACATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT ACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTTTATATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	396	0.0025	572	c.349 others(587): Show c.349+946_349+947insCATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT ACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTTTATATATATACTATATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(565): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCC TCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	256	0.0039	572	c.-45 others(593): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCC TCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CECR2_chr22_17364460_17563151	17432004	T T	TGACATTT others(565): Show TGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGG ATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACT TTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATC ACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTC CTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCA CTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGT ATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCC CACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTG GAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACA TTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTT GCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTG CCTGTATGGATTTGCCCACTCTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0070 a0016c0024t0070	a0016c0024t0070g0194 a0016c0024t0070g0194	1	324	0.0031	572	c.127 others(591): Show c.127-45531_127-45530insTGCCCACTCTGGACATTTCCTGTAAG TGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGA CATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATT TTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTG TGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACA CAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTG TAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACT CTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTAT GGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCAC TTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAA TCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTT CCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CFAP46_chr10_132803392_132947570	132935776	T T	TGATCTCC others(565): Show TGATCTCCTCACTCCCCTCACATCCAAACACACTGTGATCTCCTCACTCC CCTCAGCACCCAAACACACTGAGATCTCCTCACTCCCCTCACATCCAAAC ACACTGTGATCTCCTCACTCCCCTCGGCACCCAAACACACTGTGATCTCC TCACAGCCCTCAGCACCCAAACCCACCGTGATCTCCTCACTCCCCTCAGC ACCCAAACACACCGTGATCTCCTCACTCCCCTCAGCACCCAAACACACTG TGATCTCCTCACTCCCCTCGGCACCCAAACACACTGCGATCTTCTCATTC CCCTCAGCACCCAAACCCACTGTGATCTCCTCGCTCCCCTCGGCACCCAA ACACACTGTGATCTCCTCACTCCCCTCAGCACCCAAACACACTGAGATCT CCTCACTCCCCTCACATCCAAACACACTGTGATCTCCTCACTCCCCTCGG CACCCAAACACACTGTGATCTCCTCACAGCCCTCAGCACCCAAACACACT GTGATCTCCTCACTCCCCTCACATCCAAACACACTGTGATCTCCTCACTC CCCTCAGCACCCAAACACACTGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0159 a0002c0002t0001g0159	1	246	0.0041	572	c.756 others(587): Show c.756-915_756-914insTCAGTGTGTTTGGGTGCTGAGGGGAGTGAG GAGATCACAGTGTGTTTGGATGTGAGGGGAGTGAGGAGATCACAGTGTGT TTGGGTGCTGAGGGCTGTGAGGAGATCACAGTGTGTTTGGGTGCCGAGGG GAGTGAGGAGATCACAGTGTGTTTGGATGTGAGGGGAGTGAGGAGATCTC AGTGTGTTTGGGTGCTGAGGGGAGTGAGGAGATCACAGTGTGTTTGGGTG CCGAGGGGAGCGAGGAGATCACAGTGGGTTTGGGTGCTGAGGGGAATGAG AAGATCGCAGTGTGTTTGGGTGCCGAGGGGAGTGAGGAGATCACAGTGTG TTTGGGTGCTGAGGGGAGTGAGGAGATCACGGTGTGTTTGGGTGCTGAGG GGAGTGAGGAGATCACGGTGGGTTTGGGTGCTGAGGGCTGTGAGGAGATC ACAGTGTGTTTGGGTGCCGAGGGGAGTGAGGAGATCACAGTGTGTTTGGA TGTGAGGGGAGTGAGGAGATCTCAGTGTGTTTGGGTGCTGAGGGGAGTGA GGAGATCACAGTGTGTTTGGATGTGAGGGGAGTGAGGAGATC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar
CLTCL1_chr22_19174473_19296719	19202514	A A	ATCACGGC others(565): Show ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGG CACCTCCCGCACCACCCCTCCTTCGCCATCCACGGCACCTCCCGCACCAC CCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA TCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCC TTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACG GCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACC ACCCCTCCTTCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTC ATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGCACCTCC CGCACCACCCCTCCTTCCGTCAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0017 a0017	a0017c0031 a0017c0031	a0017c0031t0007 a0017c0031t0007	a0017c0031t0007g0099 a0017c0031t0007g0099	1	346	0.0029	572	c.360 others(591): Show c.3601-1022_3601-1021insATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGA GGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGA CGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTG GTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCG TGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGG AGGGGTGGTGCGGGAGGTGCCGTGGATGGTGAAGCAGGGGTGGTGCGGGA GGTGCCGTGGATGACGGAAGGAGGGGTTTTGGGGGAGGTGCCGTGA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(565): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCC TCTTCCTCCTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCC TTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTT CCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0050 a0001c0005t0050	a0001c0005t0050g0191 a0001c0005t0050g0191	1	270	0.0037	572	c.162 others(593): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCT CCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCC TCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL18A1_chr21_45400165_45518720	45500816	G G	GGTGTGTA others(565): Show GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG GGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0166 a0001c0003t0008g0166	1	292	0.0034	572	c.268 others(591): Show c.2684-3164_2684-3163insGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA GTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATG others(565): Show TATATATGATATATATCATATATACATATGATATATACATGATATATATG ATATATATGATACATATGATATATATGATATATATGATACATATGATATA TATGATATATATATGATACAAATGATATATATGATATATATGATATATAT CAGATATATATATGATATATATATCTGATATATATCATATATATCATATA TATCATTTGTATCATATATATATCATATATATCATATGTATCATATATAT CATGTATATATCATATATATCATATATATCATATATGTATTCATATATAT CATATATATTCATATATTATATATTCATATATATCATATATATTCATATA TATATCATATATATTCATATATATCATATATATTCATATATATCATATAT ATTCATATATATCATATATATTCATATATATATCATATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATTCATAT ATATATCATATATATTCATATATATATTCATATATATATCATATATATTC ATATATATATTCATATATATATC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19074.hp1 NA18966.hp1 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0002 a0002c0006t0003 a0002c0003t0002 a0002c0006t0003	a0002c0003t0002g0100 a0002c0006t0003g0098 a0002c0003t0002g0100 a0002c0006t0003g0098	2	182	0.0110	572	c.267 others(589): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATGATATATATCAGATATATATATGATATATATATCTGATAT ATATCATATATATCATATATATCATTTGTATCATATATATATCATATATA TCATATGTATCATATATATCATGTATATATCATATATATCATATATATCA TATATGTATTCATATATATCATATATATTCATATATTATATATTCATATA TATCATATATATTCATATATATATCATATATATTCATATATATCATATAT ATTCATATATATCATATATATTCATATATATCATATATATTCATATATAT ATCATATATATTCATATATATCATATATATTCATATATATATCATATATA TTCATATATATATTCATATATATATCATATATATTCATATATATATTCAT ATATATATCATATATATTCATATATATATTCATATATATATCAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGAAGG others(565): Show GGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGG GGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGC AGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGG GAGGGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0210 a0003c0008t0001g0210	1	344	0.0029	572	c.85- others(589): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTC CTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTG CCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTT CCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(565): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGAAAGGCAGGAAGGG AGGGGGCAGGCAGGAAGGGAAGGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGGAAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGG GGGCAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0250 a0002c0004t0001g0250	1	344	0.0029	572	c.85- others(589): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC CTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTC CCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTT CCTGCCTTTCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD9_chr11_36267292_36294424	36287216	T T	TACTATGT others(565): Show TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	448	0.0022	572	c.51+ others(587): Show c.51+2145_51+2146insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CPNE4_chr3_131528569_132040014	131978270	T T	TTTTATAT others(565): Show TTTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATTTATATATATATTTTTATATATTTATATATATTTTTAT ATATTTATATATTTATATATATATTTATATATATTTTTATATATATATTT ATATATATTTATATATATATTTATATATATATTTTTATATATTTATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATATTTATATATATTTATATATATATATATATATATATATTTATATAT ATTTATATATATATATATATATTTATATATATTTATATATATATATTTAT ATATATATTTATATATATTTATATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATTTATATATATTTATAT ATATATTTATATATTTATATATATTTATATATATATTTATATATTTATAT ATATTTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	94	0.0106	572	c.-2+ others(589): Show c.-2+56296_-2+56297insTATATAAATATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATATATAAATATATATAAATATATATATAAA TATATATATATAAATATATATAAATATATATATATATATATAAATATATA TAAATATATATATATATATATATATATAAATATATATAAATATATATATA AATATATATATAAATATATATAAATATATATATAAATATATATATATAAA TATATATAAATATATATATAAATATATATATAAATATATATAAATATATA TAAATATATAAAAATATATATATAAATATATATATAAATATATATAAATA TATATATAAAAATATATATAAATATATATATAAATATATAAATATATAAA AATATATATAAATATATAAAAATATATATATAAATATAAATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CRTC3_chr15_90524923_90650345	90647663	T T	TTCTCCTC others(565): Show TTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTC CTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCT CCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACA TCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGTCTC CTCCTCCACACCCCTCCTCCTCCATACCCCTCCTCCACCTCACACCTCCC CCTCACCCCTTCTCCTCCACCACACCCCTCCTCCTCCACACCCCTCCTCC GCCTCACACCTCCCTCACCCCTCCTCCTCCACACCTTGTCCTCCTCCACA CCCCTCCTCTGCCTCACCCCTCCTCCTCCTCCACACCCCTTGTCCTCCTC CACACCCCTCTGCCTCACCCCTCCTCCTCCTCCACACCCCTTGTCCTCCT CCACACCCCTCCTCCGCCTCACCCCCCTCCTCCTCACCCCTTCTCCTCTC CACATCCCTCCTCCTCAACCCTCCTGCTCCACATCCCTCCCCCTTCACAC CCCTCCCCCTCCCCCTTCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0130 a0002c0002t0007g0130	1	276	0.0036	572	c.55 others(583): Show c.5523_*5524insTCTCCTCCTCCACACCTGTCCTCCTCCACACTCA TCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTC ACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACAC CCCTCCTGCTCCACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCC TCCTCACCCCGTCTCCTCCTCCACACCCCTCCTCCTCCATACCCCTCCTC CACCTCACACCTCCCCCTCACCCCTTCTCCTCCACCACACCCCTCCTCCT CCACACCCCTCCTCCGCCTCACACCTCCCTCACCCCTCCTCCTCCACACC TTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCTCCACA CCCCTTGTCCTCCTCCACACCCCTCTGCCTCACCCCTCCTCCTCCTCCAC ACCCCTTGTCCTCCTCCACACCCCTCCTCCGCCTCACCCCCCTCCTCCTC ACCCCTTCTCCTCTCCACATCCCTCCTCCTCAACCCTCCTGCTCCACATC CCTCCCCCTTCACACCCCTCCCCCTCCCCCTTCACACC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2319		chr15	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGGGG others(565): Show TGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGA GGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGG AGAGGAGGGGGAGGGGAGAGGGAGAGGAGGGGGAGGGGAGGGGAGGGGAG GGGGAGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGGAGGGGGAGAGGACGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0005 a0001c0002t0028g0005	1	126	0.0079	572	c.416 others(593): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCGTCCTCTCCCCCTCCCCCTCCCCGTCCTCTCCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCC TCCCCTCCCCTCCCCTCCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTC CCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCT CCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CXorf51A_chrX_146809106_146819744	146812300	C C	CATATATA others(565): Show CATATATATGTGTATATACATATATACACATATATATGTGTATATACATA TATACACATATATGTACACATATATATGTGTATATACATATATACACATA TATGTACACATATATATGTGTATATACATATATACACATATATGTACACA TATATATGTGTATATACATATATACACATATATGTACACATATATATGTG TATATACATATATACACATATATGTACACATATATATGTGTATATACATA TATACACATATATGTACACATATATATGTGTATATACATATATACACATA TATGTACACATATATATGTGTATATATGTGTGTATATACATATATGTGTA TATACGTATATACACATGTGTATATACGTATATACACATATATATGTGTA CATATATGTGTGTATATGTGTGTATATATACATATATGTGTATATACGTA TATACACATGTGTATATACGTATATACACACATATATGTGTACATATATG TGTGTATATGTGTGTGTATATACATATATGTGTATATACGTATATACACA TGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	264	0.0038	572	c.19 others(583): Show c.1906_*1907insATGTGTATATACGTATATACACATGTGTATATAC GTATATACACATATATGTATATACACACACATATACACACATATATGTAC ACATATATGTGTGTATATACGTATATACACATGTGTATATACGTATATAC ACATATATGTATATATACACACATATACACACATATATGTACACATATAT ATGTGTATATACGTATATACACATGTGTATATACGTATATACACATATAT GTATATACACACATATATACACATATATATGTGTACATATATGTGTATAT ATGTATATACACATATATATGTGTACATATATGTGTATATATGTATATAC ACATATATATGTGTACATATATGTGTATATATGTATATACACATATATAT GTGTACATATATGTGTATATATGTATATACACATATATATGTGTACATAT ATGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATAT ATGTATATACACATATATATGTGTACATATATGTGTATATATGTATATAC ACATATATATGTGTATATATGTATATACACATATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1805		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812300	C C	CATATATA others(565): Show CATATATATGTGTATATACGTATATACACATGTGTATATACGTATATACA CATATATGTATATACACACATATATACACATATATATGTGTACATATATG TGTATATATGTATATACACATATATATGTGTACATATATGTGTATATATG TATATACACATATATATGTGTACATATATGTGTATATATGTATATACACA TATATATGTGTACATATATGTGTATATATGTATATACACATATATATGTG TACATATATGTGTATATATGTATATACACATATATATGTGTACATATATG TGTATATATGTATATACACATATATATGTGTACATATATGTGTATATATG TATATACACATATATATGTGTATATATGTATATACACATATATATGTGTA CATATATGTGTGTATATGTGTGTATATATACATATATGTGTATATACGTA TATACACATGTGTATATACGTATATACACACATATATGTGTACATATATG TGTGTATATGTGTGTGTATATACATATATGTGTATATACGTATATACACA TGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	264	0.0038	572	c.19 others(583): Show c.1906_*1907insATGTGTATATACGTATATACACATGTGTATATAC GTATATACACATATATGTATATACACACACATATACACACATATATGTAC ACATATATGTGTGTATATACGTATATACACATGTGTATATACGTATATAC ACATATATGTATATATACACACATATACACACATATATGTACACATATAT ATGTGTATATACATATATACACATATATATGTGTATATACATATATACAC ATATATGTACACATATATATGTGTATATACATATATACACATATATGTAC ACATATATATGTGTATATACATATATACACATATATGTACACATATATAT GTGTATATACATATATACACATATATGTACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACATATATACAC ATATATGTACACATATATATGTGTATATACATATATACACATATATGTAC ACATATATATGTGTATATATGTGTGTATATACATATATGTGTATATACGT ATATACACATGTGTATATACGTATATACACATATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1805		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812300	C C	CATATATA others(565): Show CATATATATGTGTATATACGTATATACACATGTGTATATACGTATATACA CATATATGTATATACACACATATATACACATATATATGTGTACATATATG TGTATATATGTATATACACATATATATGTGTACATATATGTGTATATATG TATATACACATATATATGTGTACATATATGTGTATATATGTATATACACA TATATATGTGTACATATATGTGTATATATGTATATACACATATATATGTG TACATATATGTGTATATATGTATATACACATATATATGTGTACATATATG TGTATATATGTATATACACATATATATGTGTACATATATGTGTATATATG TATATACACATATATATGTGTATATATGTATATACACATATATATGTGTA CATATATGTGTGTATATGTGTGTATATATACATATATGTGTATATACGTA TATACACATGTGTATATACGTATATACACACATATATGTGTACATATATG TGTGTATATGTGTGTGTATATACATATATGTGTATATACGTATATACACA TGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	272	0.0037	572	c.19 others(583): Show c.1992_*1993insATATATATGTGTATATACGTATATACACATGTGT ATATACGTATATACACATATATGTATATACACACATATATACACATATAT ATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTACAT ATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGTAT ATATGTATATACACATATATATGTGTACATATATGTGTATATATGTATAT ACACATATATATGTGTACATATATGTGTATATATGTATATACACATATAT ATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTACAT ATATGTGTATATATGTATATACACATATATATGTGTATATATGTATATAC ACATATATATGTGTACATATATGTGTGTATATGTGTGTATATATACATAT ATGTGTATATACGTATATACACATGTGTATATACGTATATACACACATAT ATGTGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTAT ATACGTATATACACATGTGTATATACGTATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1890		chrX	TogoVar
DCDC2C_chr2_3698575_3853008	3725599	A A	AGGTGGAT others(565): Show AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCG GAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCAGGTGGATCC CAGAGGAAGACGAGCAGAGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGGAGATG AGCAGAGAGGGAGGAGGCTGCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0257 a0003c0008t0005g0257	1	324	0.0031	572	c.340 others(589): Show c.340-1395_340-1394insCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC CGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTG GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTG CCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGCTGCCAGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCC CGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(565): Show GGGAGGAATGGAGGGAGGAATGGAGGGAGGGAGGGAGGAAGGGAGGGAGG GAGGAATGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGGA GGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGGAGG AATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGA GGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGGATGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGGAGGGGA AGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGG GAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAAG GGGGAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0008 a0003c0003t0002g0008	1	216	0.0046	572	c.923 others(591): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CATCCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCC CCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCT CCATTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCATTCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCATTCCTCCCTCCATTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DDX51_chr12_132131594_132149319	132148918	C C	CACCACAC others(565): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0001 a0018c0026t0001	a0018c0026t0001g0060 a0018c0026t0001g0060	1	334	0.0030	572	c.-46 others(583): Show c.-4623_-4622insAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGC GGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACT CACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGA GGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCCGCACTCACCGAGGGGAT TAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGG TGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT GTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGC GAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4600		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149006	T T	TACCACAC others(565): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	572	c.-47 others(583): Show c.-4711_-4710insGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGC GGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACT CACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGA GGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGAT TAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGG TGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT GTGAGTGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGC GAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4688		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149006	T T	TACCACAC others(565): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	334	0.0060	572	c.-47 others(583): Show c.-4711_-4710insGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGC GGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACT CACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGA GGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGAT TAGGGGTGTGGTATGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGG TGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT GTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTATGAGC GAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4688		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149226	C C	CACCACAC others(565): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	572	c.-49 others(583): Show c.-4931_-4930insAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAT GAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGC GGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACT CACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGA GGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGAT TAGGGGTGTGGTATGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGG TGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT GTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGT GAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4908		chr12	TogoVar
DEAF1_chr11_639233_700222	642838	C C	CCAGGCGG others(565): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0184 a0001c0003t0001g0184	1	345	0.0029	572	c.17 others(583): Show c.1711_*1712insCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTC ACCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCG CCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGCCCCTCAC CCCGCCTGGCCCTTCCTCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAC CCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAGCCCGCCTGGCCCTTCC TGTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAGCCCGCCTGGC TCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCG CCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTC ACCCCGCCTGGCCCTTCCTGTGACCCTCACCCCGCCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		1394		chr11	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(565): Show CCACCCGCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCTCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC CCACCCCCACCCTCACCCGCACCCCCACCCCCCACCCGCACCCCCACCCC CACCCTCACCCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCC ACCCTCACCCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0098 a0001c0001t0006g0098	1	320	0.0031	572	c.39 others(583): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGGTGAGGGTGGGGGTGGGGGT GCGGGTGGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGA GGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(565): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCC CTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACT TCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTAC ACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAC CACTTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTC CTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCAC CCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCA TCCCATTCCTCACTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA19060.hp1 NA18975.hp2 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0059 a0001c0002t0006g0058 a0001c0002t0002g0059 a0001c0002t0006g0058	2	412	0.0049	572	c.36 others(583): Show c.3631_*3632insGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAAGTGGTGGGTGTAGG AAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGA GGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATG GGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGA AGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTG GAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAG GTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACG GGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTA GGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(565): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATTCCTCACTTCCTACACCCGTCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCATCACCTCCTTCACCCTTCATC CCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTC CTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCCTCACT TCCTCCACGCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTAC ACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAC CACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTC CTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCAC CCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCA TCCCATCCCTCACTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	412	0.0024	572	c.36 others(583): Show c.3631_*3632insGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGA GGGATGGGATGAAGGGTGGAGGGGGTGGTGCGTGGAGGAAGTGAGGGATG GGATGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGGAATGGGATGA AGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTG AAGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAG GTGACGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACG GGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTA GGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713650	T T	TCCTCACT others(565): Show TCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCC GTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTT CATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCT CACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTC CTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCAC CCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCA CCTCCTCCACCCTTCATCCCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	572	c.35 others(583): Show c.3559_*3560insGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTA GGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGGAGGAAGT GAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGA TGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGAT GAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGG TGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGG AGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGA CGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTG TAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAA GTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGG GATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGG ATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		916		chr19	TogoVar
DISP3_chr1_11474155_11542551	11522629	G G	GCCCAGCC others(565): Show GCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGG CCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGC CAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCC CAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCC AGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAGAGCCCAGCCAG GGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG02897.hp1 others(2): Show HG02615.hp2 HG02717.hp1 HG02897.hp1 HG03041.hp1 HG03471.hp1	a0004 a0004	a0004c0010 a0004c0024 a0004c0010 a0004c0024	a0004c0010t0004 a0004c0010t0014 a0004c0024t0019 a0004c0010t0004 a0004c0010t0014 a0004c0024t0019	a0004c0010t0004g0290 a0004c0010t0004g0312 a0004c0010t0014g0291 others(2): Show a0004c0010t0004g0290 a0004c0010t0004g0312 a0004c0010t0014g0291 a0004c0010t0014g0292 a0004c0024t0019g0325	5	358	0.0140	572	c.236 others(591): Show c.2363-1304_2363-1303insGACCCAGCCAGAGCCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCA GCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGC GAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(565): Show GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGG CCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGC CAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGGCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03540.hp1 HG02886.hp2 HG03540.hp1	a0004 a0004	a0004c0016 a0004c0025 a0004c0016 a0004c0025	a0004c0016t0020 a0004c0025t0008 a0004c0016t0020 a0004c0025t0008	a0004c0016t0020g0017 a0004c0025t0008g0053 a0004c0016t0020g0017 a0004c0025t0008g0053	2	358	0.0056	572	c.236 others(591): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGG ACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGA CCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DISP3_chr1_11474155_11542551	11522738	G G	GGCCCAGC others(565): Show GGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGCCCAG CGAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGA CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGC CAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCC AGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAG AGCCCAGCCAGGACCCAGCCAGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0019 a0004c0024t0019	a0004c0024t0019g0325 a0004c0024t0019g0325	1	358	0.0028	572	c.236 others(591): Show c.2363-1193_2363-1192insGCCCAGCCAGGGCCCAGCCAGGGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCGAGAGCCCA GCCAGGGCCCAGCGAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGC CAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(565): Show CCTCCACCATCACCACCACCACCACCACCACCTCCACCACCACCACCACC ACCACCACCTCCACCACCACCACCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCA CCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACC ACCACCTCCACCACCACCACCACCGCCATCACCACCTCCACCACCACCAC CACCTCCACCACCACCACCACCTCCACCACCACCACCACCACCACCACCT CCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACC ACCACCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCAC CACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCT CCACCACCACCACCACCTCCACCACCACCACCACCACCACCACCACCTCC ACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTC CACCATCACCACCACCTCCACCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0003 a0009c0017t0003	a0009c0017t0003g0212 a0009c0017t0003g0212	1	256	0.0039	572	c.323 others(591): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCACCACCAC CACCTCCACCACCACCACCACCACCACCACCTCCACCACCACCACCACCA CCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACC ACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCAC CACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCGCCA TCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACC ACCACCACCACCACCACCACCTCCACCACCTCCACCACCACCACCACCTC CACCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCA CCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCACCACC ACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCAC CACCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCA CCACCTCCACCACCACCACCTCCACCATCACCACCACCTCCACCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619246	C C	CCCCCCCT others(565): Show CCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCT GCTCCCCTCCCTGCAGCTCCATG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	250	0.0040	572	c.-10 others(591): Show c.-107+5533_-107+5534insTGCTCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYSF_chr2_71448561_71691763	71618604	G G	GGTGTGTG others(565): Show GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG GTAGAGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGTGTGTGT GGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGT GTGGGGTAGAGTTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGA GGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGG TGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGTGGTAGAGGTGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGT GTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAG GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGTGTGT GTGTTTGTGTGGGGTAGAGTTGT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0106 a0001c0003t0001g0106	1	192	0.0052	572	c.441 others(591): Show c.4410+5197_4410+5198insTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA GGTGGGGGTGTGTGTGTGTGGTAGAGTGTGTGTGGTAGAGGTGATGTGTG TTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGA GGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTTTGTGTGGGGTAG AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT GTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTG TGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGT AGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGT GATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT GTGTGGTAGAGGTGGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618604	G G	GGTGTGTG others(565): Show GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG GTAGAGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGTGTGTGT GGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGT GTGGGGTAGAGTTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGA GGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGG TGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGTGGTAGAGGTGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGT GTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAG GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGTGTGT GTGTTTGTGTGGGGTAGAGTTGT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	208	0.0048	572	c.446 others(591): Show c.4465-1940_4465-1939insTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA GGTGGGGGTGTGTGTGTGTGGTAGAGTGTGTGTGGTAGAGGTGATGTGTG TTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGA GGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTTTGTGTGGGGTAG AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT GTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTG TGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGT AGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGT GATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT GTGTGGTAGAGGTGGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(565): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG GGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAG GGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA GGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGA GGGAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0130 a0005c0004t0001g0130	1	290	0.0035	572	c.757 others(589): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCC CTCCTTCCCTCCCTCCGTCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCT TTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCC TCCTTCCTCTTCCTTCCCTCCTTCCCTCCCTTCCCTCCTCCCCTCCCTCC TTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCC TCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCC TCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCC TTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCC CTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCC CTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(565): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGATG GAGGGAGGGGAGGAGGGAAGGGAGGGAGGGAGGGGAGGAGGGAAAGGAGG GAAGGGAGGGAGGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGGAG GGGAGGAGGGAAGGAGGGGAGGGAGGGAGGGAGGGGAGGAGGGAAGGAGG GGAAGGAGGGAAGGGAGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGG AGGGAAGGGAGGGAAGGGAAGGAGGGAGGGGAGGAGGGAAGGGAGGGAAG GTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGGAGGGAAGGGAGGGA GGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGGAAGGAGGGAAGGAG GGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA GGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGA GGGAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18957.hp1 NA18984.hp1 others(2): Show NA18939.hp2 NA18957.hp1 NA18984.hp1 NA19064.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074	5	290	0.0172	572	c.757 others(589): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT CCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCC CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCC TTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCC TTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCC TTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTCCCCTCCCTCCATCC CTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCC CTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(565): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGA GGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAA GGAGGGAAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA GGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGA GGGAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	290	0.0035	572	c.757 others(589): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTTCCCTCCTTCCC TCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTT TCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTC TTCCTTCCCTCCTTCCCTACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCC TTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCC TCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCC TCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCC TTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCC CTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCC CTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)