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
NLGN4X_chrX_5885042_6233867	6161078	T T	TATATAAT others(551): Show TATATAATATAGGATATAAAATATATTATTCTATATATAATATAGGATAT AAAATATATTATTCTATATATAATATAGGATATAAAATATATTATTCTAT ATATAATATAGGATATAAAATATATTATTCTATATATAATATAGGATATA AAATATATTATTCTATATATAATATAGGATATAAAATATATTATTCTATA TATAATATAGGATATAAAATATATTATTCTATATATTATATAGGATATAA AATATATTATTCTATATATTATATAGGATATAAAATATATTATTCTATAT ATTATATAGGATATAAAATATATTATTCTATATATTATATAGGATATAAA ATATATTATTCTATATATAATATAGGATATAAAATATATTATTCTATATA TAATATAGGATATAAAATATATTATTCTATATATAATATAGGATATATAA TATATTATTCTATATATAATATAGGATATAAAATATATTCTATAAATAAT ATAGGATATAAAATATATTATTCTATATATAATATAGGATATAAAATATA TTATTCTAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG02895.hp1 others(1): Show HG01109.hp1 HG02258.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0002 a0001c0003t0006 a0001c0001t0004 a0001c0003t0002 a0001c0003t0006	a0001c0001t0004g0037 a0001c0003t0002g0041 a0001c0003t0006g0040 others(1): Show a0001c0001t0004g0037 a0001c0003t0002g0041 a0001c0003t0006g0040 a0001c0003t0006g0042	4	128	0.0313	558	c.-30 others(577): Show c.-305-9308_-305-9307insGTAGAATAATATATTTTATATCCTAT ATTATATATAGAATAATATATTTTATATCCTATATTATTTATAGAATATA TTTTATATCCTATATTATATATAGAATAATATATTATATATCCTATATTA TATATAGAATAATATATTTTATATCCTATATTATATATAGAATAATATAT TTTATATCCTATATTATATATAGAATAATATATTTTATATCCTATATAAT ATATAGAATAATATATTTTATATCCTATATAATATATAGAATAATATATT TTATATCCTATATAATATATAGAATAATATATTTTATATCCTATATAATA TATAGAATAATATATTTTATATCCTATATTATATATAGAATAATATATTT TATATCCTATATTATATATAGAATAATATATTTTATATCCTATATTATAT ATAGAATAATATATTTTATATCCTATATTATATATAGAATAATATATTTT ATATCCTATATTATATATAGAATAATATATTTTATATCCTATATTATATA TAGAATAATATATTTTATATCCTATATTATAT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	1/5			chrX	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(551): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	356	0.0028	558	c.91+ others(571): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(551): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTT TAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACT ATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT AGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTTAAACTATATAG TTTAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGT TTATATATAGTTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAA ACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAAC TATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGT AGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACT ATATAGTTTATGTAGTTTTAAACTAGTTTATTTTTTTTATATAGTTTAAA CTATATAGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0128 a0002c0009t0001g0128	1	244	0.0041	558	c.342 others(577): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AAATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAG TTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAA CTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAACT ATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTATA TAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAACT ATATAAACTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATAT AAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAA ACTATATAGTTTTAAACTATATAAACTAGTTTAAAACTATATATAAACTA TATAGTTTAAAACTATAAACTATATAGTTTAAAACTATATATAAACTATA TAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(551): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAG GGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGG GGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAG GGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAG AGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAG GGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0333 a0001c0001t0039g0333	1	386	0.0026	558	c.92 others(569): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTTTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTC CCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTC CCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTCCCTCTCTCT CCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCTCTCCCTCT CTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCTCCCT CCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCC TCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCT GTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
OPCML_chr11_132409981_133537501	133082514	C C	CTCCCCTC others(551): Show CTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTC CCCTCCTCCCCTCCTCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCC TCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCC TCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCA TCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCC TCTCCTCCCCCTCGCCCATCCCCCTTTCCCCTCCTCCCCTCCTCATCCTC TCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCC TCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCC CCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCC TCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCG CCCATCCCCCTTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCC CATCCCCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	68	0.0147	558	c.62- others(577): Show c.62-139505_62-139504insAGGGGGATGGGCGAGGGGGAGGAGAG GATGAGGAGGGGAGGAGGGGAAAGGGGGATGGGCGAGGGGGAGGAGAGGA TGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGA GGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGA GGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGG GAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAG GAGGGGAAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGGA GGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGG GAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAA GGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAAGGGGGATGGGC GAGGGGGAGGAGAGAATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAGGAGGGGA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(551): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	439	0.0023	558	c.-16 others(569): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(551): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0092 a0092	a0092c0072 a0092c0072	a0092c0072t0001 a0092c0072t0001	a0092c0072t0001g0169 a0092c0072t0001g0169	1	268	0.0037	558	c.292 others(573): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC CCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT ACTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(551): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTACTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0066 a0066	a0066c0042 a0066c0042	a0066c0042t0001 a0066c0042t0001	a0066c0042t0001g0195 a0066c0042t0001g0195	1	268	0.0037	558	c.292 others(573): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT ACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(551): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0064 a0064	a0064c0041 a0064c0041	a0064c0041t0001 a0064c0041t0001	a0064c0041t0001g0229 a0064c0041t0001g0229	1	268	0.0037	558	c.292 others(573): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTC ACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(551): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0001 a0001c0062t0001	a0001c0062t0001g0230 a0001c0062t0001g0230	1	268	0.0037	558	c.292 others(573): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTC ACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(551): Show CTATAGTGACTTAACGGAGGCACTGTGTATGCTATAGTGACTTAACGGAG GGCACCGTGTGTGTGTTATAGTGACTTAACGGAGAGCACCGTATGGTGCT ATAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGGACTTAACGGAG GGCACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTAT AGTGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGG GGACCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATA GTGACTTAACGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGC ACTGTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGT GACTTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGAC CGTGTGGTGTTATAGTGACTTAACGGAGGGCACTGGATGGTGCTATAGTG ACTTAACGGAGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACC GTGTGGTGT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0160 a0003c0002t0001g0160	1	399	0.0025	558	c.125 others(573): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTATA GCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCTC CGTTAAGTCACTATAGCACCACACGGTCCCCCTCCGTTAAGTCACTATAG CACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTC CGTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCCACTATAAC ACACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCTCTCCG TTAAGTCACTATAACACACACACGGTGCCCTCCGTTAAGTCACTATAGCA TACACAGTGCCTCCGTTAAGTCACTATA	PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18			chr1	TogoVar
PARD3B_chr2_204540475_205625162	204648652	A A	AATATATT others(551): Show AATATATTTATAATATATATCATATAAATAATATATATTTATAATATATA TCATATAAATAATATATATTTATAATATATATCATATAAATAATATATAT TTATAATATATATCATATAAATAATATATATTTATAATATATATCATATA AATAATATATATTTATAATATATATCATATAAATAATATATATTTATAAT ATATATCATATAAATAATATATATTTATAATATATATCATATAAATAATA TATATTTATAATATATATCATATAAATAATATATATTTATAATATATATC ATATAAATAATATATATTTATAATATATATCATATAAATAATATATATTT ATAATATATATCATATAAATAATATATATTTATAATATATATCATATAAA TAATATATATTTATAATATATATCATATAAATAATATATATTTATAATAT ATATCATATAAATAATATATATTTATAATATATATCATATAAATAATATA TATTTATAATATATATCATATAAATAATATATATTTATAATATATATCAT ATAAATAAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0005 a0004c0011t0005	a0004c0011t0005g0044 a0004c0011t0005g0044	1	54	0.0185	558	c.121 others(577): Show c.121-37453_121-37452insTATATCATATAAATAATATATATTTA TAATATATATCATATAAATAATATATATTTATAATATATATCATATAAAT AATATATATTTATAATATATATCATATAAATAATATATATTTATAATATA TATCATATAAATAATATATATTTATAATATATATCATATAAATAATATAT ATTTATAATATATATCATATAAATAATATATATTTATAATATATATCATA TAAATAATATATATTTATAATATATATCATATAAATAATATATATTTATA ATATATATCATATAAATAATATATATTTATAATATATATCATATAAATAA TATATATTTATAATATATATCATATAAATAATATATATTTATAATATATA TCATATAAATAATATATATTTATAATATATATCATATAAATAATATATAT TTATAATATATATCATATAAATAATATATATTTATAATATATATCATATA AATAATATATATTTATAATATATATCATATAAATAATATATATTTATAAT ATATATCATATAAATAATATATATTTATAATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PDCD6_chr5_266646_319974	318246	C C	CACCTCCC others(551): Show CACCTCCCCCAATCCTTCACCTCCCCCCTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTC CCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCAC CTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACC CTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAA CCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCC TCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCA CCTCTCCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAACCCTGC ACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCACC CTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCC CCATCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	360	0.0028	558	c.37 others(569): Show c.3731_*3732insACCTCCCCCAATCCTTCACCTCCCCCCTCACCCT CCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT CACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCC CCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCC CCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCA CCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCC TCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTC CCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCC CACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCCCCACCCTCCAT CTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCCTC CACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTC ACCCTGCACCTCCCCCCATCCTTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3273		chr5	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(551): Show GAAAAAAGAGAGAAGAAGAAAGAAATAGAAGAAGGGAGAAGGAAGAAGGA AGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAAGAA GAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAAGAA GGAAGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAA GGAAGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGA AGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGA AGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAG AAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAG AGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAA GGAAGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGGAA GAAGAAGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0001 a0013c0023t0001	a0013c0023t0001g0174 a0013c0023t0001g0174	1	188	0.0053	558	c.147 others(577): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCT TCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTTTCTTCTT CCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTCCTTCTTT CTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTT GTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTTCTTCCTTCT TCCTTCTCCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTTCTTCTTCC TTCTTCCTTCTTCTTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTTCTTCC TTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCC TTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCT TCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCTCCC TTCTTCTATTTCTTTCTTCTTCTCTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PRKCZ_chr1_2045411_2190395	2123364	G G	GGTAGTTA others(551): Show GGTAGTTAGGGTCATGGTGGTAGTTAGTGTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGTGGTAGTTAGCGTCATGGTGGTAGTTAGGATCATG GCTGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCGGTAGTTAGGATCATGGCTGTAGTTAGGATCATGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TGTAGTTAGGGTCACGGCGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0126 a0001c0003t0001g0126	1	286	0.0035	558	c.335 others(577): Show c.335-11896_335-11895insAGTTAGGGTCATGGTGGTAGTTAGTG TCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGCTGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG TGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGCGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGATCATGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCACGGCGGTAGTTAGGATCATGGCTGTAG TTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGCGGTAGTTAGGA TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGTAGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	492363	T T	TCCCGGGA others(551): Show TCCCGGGAGACCCGAGGCCGTCCGTCCAGAGCCCCCCCGGGAGACCCGAG GCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG GGAGACCCGAGGCCGCCCAGAGCCTTCCCGGGAGACCCGAGGCCGTCCAG GGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0084 a0001c0001t0011g0084	1	295	0.0034	558	c.126 others(577): Show c.1265+3382_1265+3383insTCCGTCCAGAGCCCCCCCGGGAGACC CGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTT CCCGGGAGACCCGAGGCCGCCCAGAGCCTTCCCGGGAGACCCGAGGCCGT CCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504412	G G	GTACCACC others(551): Show GTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCT CACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCT GTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACC TCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCTCACCTCCTTGTGCACCCCTCACCTCCTCCTGTACCCCCTCACCT CCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTATACCCC CTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTC CTGTACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCA CCTCCTCCTATACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTG CACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCT CCTCCTGTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	295	0.0034	558	c.139 others(577): Show c.1396-1112_1396-1111insTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC CTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCT GTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCA CCTCCTCCTGTACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCTCACCTCCTCCTATACCCCCTCACCTCCTCCTGTACCCCCTCACCT CCTTGTGCACCCCTCACCTCCTCCTGTACCCCCTCACCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTCCTATACCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCA CCTCCTCCTGTACCCCCTCACCTCCTCCTGTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RIMBP2_chr12_130391133_130721299	130483273	G G	GGGGGCAC others(551): Show GGGGGCACACCTCATCCAAATACACCCATTGTGTGTGTACATGTGTCAGA TTCTGCAGGGGAGGGGGCAGACCTCATCCAATTACACCCATTGTGTGTGT ACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCAAATACACC CACTGTGTGTGTACATGTGTCCTATTCTGCAGGGGAGGGGGCACACCTCA TCCAAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGG GGGCAGACCTCATCCCAATACACCCATTGTGTGTGTACATGTGTCAGATT CTGCAGGGGAGGGGGCAGACCTCATCCCAATACACCCATTGTGTGTGTAC ATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCAAATACACCCA CTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATC CAAATACACCCACTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGG GCAGACCTCATCCAGATATACCGATTGTGTGTGTACATGTGTCACATTCT GCAGGGGAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp1 HG02970.hp1 HG03195.hp1	a0001 a0013 a0001 a0013	a0001c0049 a0013c0046 a0001c0049 a0013c0046	a0001c0049t0001 a0013c0046t0004 a0001c0049t0001 a0013c0046t0004	a0001c0049t0001g0169 a0013c0046t0004g0167 a0001c0049t0001g0169 a0013c0046t0004g0167	2	180	0.0111	558	c.-3- others(573): Show c.-3-4258_-3-4257insATCCCCTGCAGAATGTGACACATGTACACA CACAATCGGTATATCTGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGA CACATGTACACACACAGTGGGTGTATTTGGATGAGGTCTGCCCCCTCCCC TGCAGAATCTGACACATGTACACACACAGTGGGTGTATTTGGATGAGGTC TGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTAT TGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACA CAATGGGTGTATTGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACA CATGTACACACACAATGGGTGTATTTGGATGAGGTGTGCCCCCTCCCCTG CAGAATAGGACACATGTACACACACAGTGGGTGTATTTGGATGAGGTCTG CCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTAATT GGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACA ATGGGTGTATTTGGATGAGGTGTGCCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RPTOR_chr17_80539838_80971368	80744469	C C	CCCTGGCT others(551): Show CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTAC TAGCACTGT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0129 a0001c0024t0003g0129	1	196	0.0051	558	c.655 others(575): Show c.655-9536_655-9535insCTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGA GCACAGCCCTGGCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTEL1_chr20_63653312_63701245	63693729	A A	ACCACCTC others(551): Show ACCACCTCCACCACCTCCACCACCTCCACCACCACCTCCAACTCCACCAC CTCCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCT CCACCTCCACCACCACCACCTCCACCACCTCCACCTCCACCACCACCACC TCCACCACCACCACCTCCACCACCTCCACCTCCACCACCACCACCTCCAC CACCTCCACCACCACCACCTCCACCTCCACCACCACCACCACCACCACCT CCACCACCTCCACCACCTCCACCACCTCCACCACCTCCACCTCCACCACC ACCTCCACCACCACCACCACCACCTCCACCACCACCACCTCCACCACCTC CACCTCCACCACCACCACCTCCACCACCTCCACCTCCACCACCACCACCT CCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCACCACC ACCTCCACCACCACCTCCAACTCCACCACCTCCACCTCCACCTCCACCAC CACCTCCACCACCACCTCCTCCACCTCCACCACCTCCACCACCACCTCCA CCACCACCT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0012 a0001c0007t0002g0012	1	60	0.0167	558	c.299 others(575): Show c.2992+448_2992+449insACCTCCACCACCTCCACCACCTCCACCA CCACCTCCAACTCCACCACCTCCACCTCCACCTCCACCACCACCACCTCC ACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCACCTC CACCTCCACCACCACCACCTCCACCACCACCACCTCCACCACCTCCACCT CCACCACCACCACCTCCACCACCTCCACCACCACCACCTCCACCTCCACC ACCACCACCACCACCACCTCCACCACCTCCACCACCTCCACCACCTCCAC CACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCTCCACCA CCACCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCACCTCC ACCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCACCTC CACCACCACCACCACCACCACCTCCACCACCACCTCCAACTCCACCACCT CCACCTCCACCTCCACCACCACCTCCACCACCACCTCCTCCACCTCCACC ACCTCCACCACCACCTCCACCACCACCTCC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
SAMD11_chr1_918923_949574	934861	G G	GCGTTACA others(551): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGG GCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTA CAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGTCGGCT CCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCTGCTC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18969.hp1 NA18948.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	2	434	0.0046	558	c.843 others(573): Show c.843-884_843-883insCCGTTACAGGTGGGCGGGGGGGGCTGCTCC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGG CGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGTCGGCTCCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCT CCGTTACAGGTGGGCGGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(551): Show TAATATATAATATATATAATATATAATATATAATATATATAATATATAAT ATATAATATATATAATATATAATATATAATATATATAATATATAATATAT AATATATAATATATATAATATATAATATATAATATATAATATATATAATA TATAATATATATTATATATAATATATATATTATATATAATATATATTATA TATAATATAATATATATAATATAATATATATATTATATATAATATATATT ATATATTATATATAATATATATTTATATATAATATATAAATATATATTAT ATATAATATATAATATATAATTATATATTATATATTATATATAATATATA TTTATATATAATATATAAATATAATTATATATTATATATAATATATAAAT ATATATTATATATAATATATAATATATATTTATATATTATATATTATATA TAATTATATTTATATATTATATATAATATATAAATATATATTATATATAT TTAATATATATTTTATATATAAATTATATATTATATATATTTAATATATA TTTTATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	188	0.0053	558	c.193 others(577): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATATAATATATAAATATAATTATATATAATATATAATAT ATAAATATATATTATATATTATATATAATATATATTTATATATTATATAT AATATATAATTATATTTATATATTATATATAAATATATATTATATATAAT ATATAATATATAATTATATATTATATATTATATATAATATATATTTATAT ATTATATATAAATATATATTATATATAATATATAATATATATTATATATA ATATATATATTATATTATATATATTATATTATATATAATATATATTATAT ATAATATATATATTATATATAATATATATTATATATTATATATATTATAT ATTATATATTATATATTATATATATTATATATTATATATTATATATTATA TATATTATATATTATATATTATATATATTATATATTATATATTATATATA TTATATATTATATATTATATATATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(551): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATATTCCATATATATATATATTCCATAT ATATATATATATTCCATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATGTATATTCCATATATATATATTCCATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	324	0.0031	558	c.115 others(575): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATGGAATATATATATATATGGAATATATATATGGAATATATA TATATGGAATATACATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATATGGAATATATATATAT ATGGAATATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(551): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCAC CCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCC CCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTC CCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTTTCCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0055 a0003c0003t0055	a0003c0003t0055g0095 a0003c0003t0055g0095	1	150	0.0067	558	c.77- others(575): Show c.77-45374_77-45373insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTC CCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(551): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCT CCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCC TCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCC CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCACCCTTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCCCCACCCGTTCCCCCTCCCCCTCCCCTCCCCTCCCC CTTTCCCTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0010 a0001c0001t0053g0010	1	150	0.0067	558	c.77- others(575): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCC TCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCC CCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCACCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCCCCACCCGTTCCCCCTCCCCCTCCCCTCCC CTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(551): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCAC CCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCC CCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTC CCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTTTCCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0043 a0003c0003t0043	a0003c0003t0043g0046 a0003c0003t0043g0046	1	158	0.0063	558	c.22+ others(575): Show c.22+36337_22+36338insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTC CCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(551): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCT CCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCC TCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCC CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCACCCTTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCCCCACCCGTTCCCCCTCCCCCTCCCCTCCCCTCCCC CTTTCCCTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0148 a0001c0001t0015g0148	1	158	0.0063	558	c.22+ others(575): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCC TCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCC CCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCACCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCCCCACCCGTTCCCCCTCCCCCTCCCCTCCC CTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431985	T T	TAGGGTGG others(551): Show TAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGTAAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGT GGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTG GACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0064 a0001c0003t0002g0064	1	376	0.0027	558	c.101 others(575): Show c.1014-974_1014-973insCAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGTAAGGGTGGATAGGGTGGTTAGGGTGGATA GGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGACAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432137	A A	ATAGGGTG others(551): Show ATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTG GAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG TTAGGGTGCTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGATAGGATGGTCAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGCT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0195 a0001c0004t0003g0195	1	376	0.0027	558	c.101 others(575): Show c.1014-830_1014-829insTAGGGTGGATAGGGTGGTTAGGGTGGTT AGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGG GTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGA GAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGTTAGGGTGCTTAGGGTGGATAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTCAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGTTAGGGTGCT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SHANK1_chr19_50654255_50724802	50679067	A A	ATGATGGG others(551): Show ATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG GGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG GGAAGGGGTCAGGGTTACAAACATTACAGGTAAGGGGTGAGGGTGATGGG GGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGGG TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG GTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG GAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCA GGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0063 a0001c0016t0063	a0001c0016t0063g0040 a0001c0016t0063g0040	1	316	0.0032	558	c.257 others(577): Show c.2578-6954_2578-6953insCCCTGACCCCTCCCCATCACCCTGAC CCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACC CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCC CATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACCCTGACCCCTC CCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCAT CACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCC TTACCTGTAATGTTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTC CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGA CCCCTCCCCATCACCCTGACCCCTCCCCATCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC24A3_chr20_19207642_19727926	19663441	T T	TCCACTTC others(551): Show TCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCACCTC CACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCT CCACCTCCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0063 a0002c0005t0001g0063	1	160	0.0063	558	c.688 others(575): Show c.688-2422_688-2421insCACTTCCTCCTCCACCTCCTCCTCTACC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCACCTCCACCTCCTCCTCCTCCACCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC ACCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCACCTCCACCTCCAC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(551): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATAGTATATATTATATATT GTATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	156	0.0064	558	c.176 others(575): Show c.176-5096_176-5095insTATATATACAATATATAATATATACTAT ATATATTATATATACAATATATAATATATACAATATATATATTATATATA CAATATATAATATATACAATATATATATTATATATACAATATATAATATA TACAATATATATATTATATATACAATATATAATATATACAATATATATAT TATATATACAATATATAATATATACAATATATATATTATATATACAATAT ATAATATATACAATATATATTATATATACAATATATAATATATACAATAT ATATATTATATATACAATATATAATATATACAATATATATATTATATATA CAATATATAATATATACAATATATATATTATATATACAATATATAATATA TACAATATATATATTATATATACAATATATAATATATACAATATATAATA TATACTATATATATTATATACAATATATAATATATACTATATATATTATA TACAATATATAATATATACTATATATATTATATATACAATATAAAATATA TATAATATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280139	T T	TATATATT others(551): Show TATATATTGTATATCTAATATATATTATATATATTTTATATTGTATATAT AATATATATAGTATATATTATATATTGTATATAATATATATAGTATATAT TATATATTGTATATAATATATATAGTATATATTATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA20300.hp1 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0068 a0001c0001t0001g0069	2	156	0.0128	558	c.176 others(575): Show c.176-5098_176-5097insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT TATATATACAATATATAATATATACAATATATATATTATATATACAATAT ATAATATATACAATATATATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAA TATATACTATATATATTATATACAATATATAATATATACTATATATATTA TATACAATATATAATATATACTATATATATTATATATACAATATAAAATA TATATAATATATATTAGATATACAATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280139	T T	TATATATT others(551): Show TATATATTGTATATCTAATATATATTATATATATTTTATATTGTATATAT AATATATATAGTATATATTATATATTGTATATAATATATATAGTATATAT TATATATTGTATATAATATATATAGTATATATTATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATTGTATATATTATATATTGTATATATAATATATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02698.hp2 HG02738.hp1 others(3): Show HG00738.hp1 HG02698.hp2 HG02738.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0001 a0001c0001t0008 a0001c0001t0011	a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0099 others(3): Show a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0099 a0001c0001t0008g0035 a0001c0001t0008g0049 a0001c0001t0011g0033	6	156	0.0385	558	c.176 others(575): Show c.176-5098_176-5097insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATTATATATACAATAT ATAATATATACAATATATATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAA TATATACTATATATATTATATACAATATATAATATATACTATATATATTA TATACAATATATAATATATACTATATATATTATATATACAATATAAAATA TATATAATATATATTAGATATACAATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SMIM36_chr17_55444856_55516452	55501090	A A	ATTTTATA others(551): Show ATTTTATATTATAATATATAATATACTATTTTATATTATAATATATAATA TACTATTTTATATTATAATATATAATATATATTATATTTTATATTATAAT ATATAATATAATATACATTATATTTTATGATATATAATATACATTATATT TTATGATATATAATATACATTATATTTTATGATATATAATATACATTATA TTTTATGATATATAATATACATTATATTTTATGATATATAATATACATTA TATTTTATGATATATAATATACATTATATTTTATGATATATGATATACAT TATATTTTATGATATATGATATACATTATATTTTATGATATATGATATAC ATTATATTTTATGATATATGATATACATTATATTTTATGATATATGATAT ATATTATATTTTATGATATATGATATATATTATATTTTATGATATATATT ATATATTATATTTTATGATATATAATATATATTATATTTTATGATATATA ATATATATTATATTTTATGATATATAATATATATTATATTTTATGATATA TAATATATT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0279 a0001c0001t0014g0279	1	340	0.0029	558	c.17 others(577): Show c.174+9788_*174+9789insAATATATTATATATCATAAAATATAA TATATATTATATATCATAAAATATAATATATATTATATATCATAAAATAT AATATATATTATATATCATAAAATATAATATATAATATATATCATAAAAT ATAATATATATCATATATCATAAAATATAATATATATCATATATCATAAA ATATAATGTATATCATATATCATAAAATATAATGTATATCATATATCATA AAATATAATGTATATCATATATCATAAAATATAATGTATATCATATATCA TAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATAT CATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATAT ATCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTAT ATATCATAAAATATAATGTATATTATATTATATATTATAATATAAAATAT AATATATATTATATATTATAATATAAAATAGTATATTATATATTATAATA TAAAATAGTATATTATATATTATAATATAAAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168572133	C C	CGGGACCA others(551): Show CGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGC ATCTCCGGGTGCCGGGACCAGGGCTGCGTGGTCCCTGAACGCGATGTTCA CTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGA ACGCAATGTTCACTTTCTCCCCGCATCCCTGGGTGCCGGGACCAGGGCTG TGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCCG GGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCAT CCCCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCACT TCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAAC GCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCG TGCTCCCTGAACGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCGGG ACCAGGGCTGTGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCC CCGGGTGCT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	180	0.0056	558	c.637 others(577): Show c.637+23108_637+23109insTGGGTGCCGGGACCAGGGCTGTGTGC TCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCCGGGACC AGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCG GGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCACTTCCTC CCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAACGCGAT GTTCATTTCCTCCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCGTGCTC CCTGAACGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCGGGACCAG GGCTGTGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGG TGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCC CGCATCTCCGGGTGCCGGGACCAGGGCTGCGTGGTCCCTGAACGCGATGT TCACTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCC TGAACGCAATGTTCACTTTCTCCCCGCATCCC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNED1_chr2_240993618_241100568	241052693	G G	GCCAAGCA others(551): Show GCCAAGCAGGGTACATGGGACACCGGTGTCAGGCAGGTGAGAGGGCCGGG GGGCCAAGCAGGGTACATGGGACACCGGTGTCAGGCAGGTGAGAGGGTCA GGGGGGTCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGATGG CCGGGGGGCTGAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAG GGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGA TGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAG AGGGCCGGGGGGCCAAGCAGGGTACATGGGACACCGGTGTCAGGCAGGTG AGAGGGTCAGGGGGGTCAAGCAGGGTACATGGGATACCAGTGCCAGGCAG GTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCA GGTGAGAGGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGC AGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGG CAGGTGAGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0061 a0002c0061	a0002c0061t0008 a0002c0061t0008	a0002c0061t0008g0253 a0002c0061t0008g0253	1	344	0.0029	558	c.208 others(575): Show c.2083+225_2083+226insCCAAGCAGGGTACATGGGACACCGGTGT CAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGGGACACCGGT GTCAGGCAGGTGAGAGGGTCAGGGGGGTCAAGCAGGGTACATGGGATACC AGTGCCAGGCAGGTGAGATGGCCGGGGGGCTGAGCAGGGTACATGGGATA CCAGTGCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTACATGGGAT ACCAGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGA TACCAGTGCCAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGG GACACCGGTGTCAGGCAGGTGAGAGGGTCAGGGGGGTCAAGCAGGGTACA TGGGATACCAGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTAC ATGGGATACCAGTGCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTA CATGGGATACCAGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGT ACATGGGATACCAGTGCCAGGCAGGTGAGA	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31			chr2	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(551): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02300.hp2 HG01256.hp2 HG02300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0002 a0001c0001t0002 a0004c0004t0002	a0001c0001t0002g0158 a0004c0004t0002g0098 a0001c0001t0002g0158 a0004c0004t0002g0098	2	322	0.0062	558	c.909 others(573): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPG7_chr16_89503403_89562766	89536102	G G	GCTCTGGT others(551): Show GCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCC TTCAGTGTGGCCTCTCTGGTGCTGTGTGTCCTTCACTGTGGCCTCTCTGG TGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTG TGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTG TGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTC TCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTT CACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTG CTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTG GCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTG GCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTC TGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCA CTGTGGCCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02258.hp2 HG03139.hp2 others(1): Show HG01081.hp1 HG02258.hp2 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0009 a0001c0005t0010 a0001c0001t0002 a0001c0005t0009 a0001c0005t0010	a0001c0001t0002g0219 a0001c0001t0002g0229 a0001c0005t0009g0339 others(1): Show a0001c0001t0002g0219 a0001c0001t0002g0229 a0001c0005t0009g0339 a0001c0005t0010g0235	4	358	0.0112	558	c.132 others(577): Show c.1324+3527_1324+3528insTCTCTGGTGCTGTGTGTCCTTCACTG TGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTG TGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTC TCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTT CAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTG CTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTG GCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTG GCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTC TGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCA GTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCT GTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGC CTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCC	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPG7_chr16_89503403_89562766	89536102	G G	GCTCTGGT others(551): Show GCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCC TTCAGTGTGGCCTCTCTGGTGCTGTGTGTCCTTCACTGTGGCCTCTCTGG TGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTG TGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTG TGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTC TCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTT CACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTG CTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTG GCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTG GCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTC TGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCA CTGTGGCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02809.hp1 HG02109.hp1 HG02572.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0228 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0001g0228 a0001c0001t0002g0227 a0001c0001t0002g0230	3	358	0.0084	558	c.132 others(577): Show c.1324+3527_1324+3528insTCTCTGGTGCTGTGTGTCCTTCACTG TGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTG TGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTC TCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTT CAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTG CTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTG GCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTG GCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTC TGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCA GTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCT GTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGC CTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCC	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852561	T T	TCCCTCTC others(551): Show TCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCAC CCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGATCCA TCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCG TCTTCCGTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	356	0.0028	558	c.646 others(575): Show c.646-1724_646-1723insCCTCTCACCCCCCGGATCCCATGGCCCG TCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(551): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAG GGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGG GGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAG GGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAG AGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAG GGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0253 a0001c0012t0001g0253	1	256	0.0039	558	c.22 others(569): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG AGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAG GGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGG AGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGG GAGAGGGAGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGG GAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGG AGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGA GGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGA GAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
TH_chr11_2158929_2176815	2161747	C C	CGGGACCC others(551): Show CGGGACCCCTGTCCCCGGGACCCCTGTCCCCCGGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCAGACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCACACCCCTGTCCC CCGGACCCCTGTCCCCGGGACCCCTGTCCCCAGGACCCCTGTCCCCACAC CCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACC CCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCC CGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCC CTGTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 NA19043.hp2 HG02258.hp2 NA19043.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0026 a0001c0008t0001g0026	2	388	0.0052	558	c.24 others(569): Show c.2485_*2486insCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGT CCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGAC AGGGGTCCCGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGT CTGAGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCCGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGAC AGGGGTCCCGGGGACAGGGGTCCC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2181		chr11	TogoVar
TMEM120B_chr12_121707752_121787068	121747727	C C	CGGGAGGC others(551): Show CGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	314	0.0032	558	c.189 others(573): Show c.189-592_189-591insACTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747767	C C	CGGGAGGC others(551): Show CGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTAGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGACACTGAAGTAGAAGGTGGGAGGCACTGGG GTAGAAGGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04228.hp2 HG03688.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0096 a0001c0001t0015g0116 a0001c0001t0015g0096 a0001c0001t0015g0116	2	314	0.0064	558	c.189 others(573): Show c.189-552_189-551insACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGC TAGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGACACTGAAGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM163_chr2_134450759_134724000	134607414	A A	ATGAAAAG others(551): Show ATGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGACAGACCCCG AGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGA CCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGT GAAAAGGACAGACCCCGAGAACTGTGCTGATGAAAAGGACAGACCCCGAG AACTGTACTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACC CCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGA AAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAA CTGTGCTGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	222	0.0045	558	c.323 others(577): Show c.323-55324_323-55323insCCAGCACAGTTCTCGGGGTCTGTCCT TTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTC GGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACC AGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTT TCATCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGTACAGTTCTCGG GGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAG CACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGT CCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTT CTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTC ACCAGTACAGTTCTCGGGGTCTGTCCTTTTCA	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM255B_chr13_113754226_113821995	113788047	A A	AGTGGGGA others(551): Show AGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGG GAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGG ATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCG GAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCA GAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGG TGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGA AGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGAT GGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGA GGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGA GGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTG GGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAG GCGGAGGGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0131 a0001c0001t0101g0131	1	260	0.0039	558	c.253 others(575): Show c.253-6746_253-6745insAGGGGAAGGCGGAGGGGGTGGGGATGGG CAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGG GGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGG GAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGG ATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCG GAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCA GAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGG TGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGA AGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGAT GGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGA GGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGA GGGGAAGGCGGAGGGGGTGGGGATGGGCAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TUBGCP5_chr15_22994177_23044569	23041837	G G	GGAGGTGC others(551): Show GGAGGTGCCGGGGGGGCGGGGGGAACTTCATAACCCCACCTGGCCAGAGG TGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGGA TTTCATAACCCCACCTGGCCAGGGGTGCTGGGGGGACATCATAACCTCAA CTGGCCAGAGGTGCTGGGGGGTATCATAATCTGACCTGGCCAGAGATGCT GGGGGGACATCATAACCCCACCTGGCCAGAGGTGCTGTGGGGCCATCATA ACCCCAGCTGGCCGGAGGTGCCGGGGGGCGGGGGGAACTTCATAACCCCA CCTGGCTAGAGGTGCCGGGGGGGCCATCATAACCACACCTGGCCAGAGGT GCCGGGGCGACTTCATAACCACACCTGGCCAGAGGTGCTGGGGTACTTCA CAACCGCACCTGGCCAGAGGTGCCGGGAGGACTTCATAACCCCACCTGGC CAGAGGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGATGCTGGGG GGTATCATAATCCCACCTGGCCAGAGATGCTGGGGGGACATCATAACCCC ACCTGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0002 a0005c0012t0002	a0005c0012t0002g0102 a0005c0012t0002g0102	1	351	0.0029	558	c.-22 others(569): Show c.-2295_-2294insTGGCCAGGTGGGGTTATGATGTCCCCCCAGCATC TCTGGCCAGGTGGGATTATGATACCCCCCAGCATCTCTGGCCAGGTGAGG TTATGATGTCCCCCCAGCACCTCTGGCCAGGTGGGGTTATGAAGTCCTCC CGGCACCTCTGGCCAGGTGCGGTTGTGAAGTACCCCAGCACCTCTGGCCA GGTGTGGTTATGAAGTCGCCCCGGCACCTCTGGCCAGGTGTGGTTATGAT GGCCCCCCCGGCACCTCTAGCCAGGTGGGGTTATGAAGTTCCCCCCGCCC CCCGGCACCTCCGGCCAGCTGGGGTTATGATGGCCCCACAGCACCTCTGG CCAGGTGGGGTTATGATGTCCCCCCAGCATCTCTGGCCAGGTCAGATTAT GATACCCCCCAGCACCTCTGGCCAGTTGAGGTTATGATGTCCCCCCAGCA CCCCTGGCCAGGTGGGGTTATGAAATCCCCCCCAGCACCTCTGGCCAGGT GACATTTATGAAGTCACCCCCAGCACCTCTGGCCAGGTGGGGTTATGAAG TTCCCCCCGCCCCCCCGGCACCTC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2269		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23041841	G G	GTGCCGGG others(551): Show GTGCCGGGGGGCGGGGGGAACTTCATAACCCCACCTGGCCAGAGGTGCTG GGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGGATTTCA TAACCCCACCCTGGCCAGGGGTGCTGGGGGGACATCATAACCTCAACTGG CAGAGGTGCTGGGGGGTATCATAATCTGACCTGGCCAGAGATGCTGGGGG GACATCATAACCCCACCTGGCAGAGGTGCTGTGGGGCCATCATAACCCCA GCTGGCCGGAGGTGCCGGGGGGCGGGGGGAACTTCATAACCCCACCTGGC TAGAGGTGCCGGGGGGGCCATCATAACCACACCTGGCCAGAGGTGCCGGG GCGACTTCATAACCACACCTGGCCAGAGGTGCTGGGGTACTTCACAACCG CACCTGGCCAGAGGTGCCGGGAGGACTTCATAACCCCACCTGGCCAGAGG TGCTGGGGGGACATCATAACCTCACCTGGCCAGAGATGCTGGGGGGTATC ATAATCCCACCTGGCCAGAGATGCTGGGGGGGACATCATAACCCCACCTG GCCAGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	351	0.0029	558	c.-22 others(569): Show c.-2299_-2298insACCTCTGGCCAGGTGGGGTTATGATGTCCCCCCC AGCATCTCTGGCCAGGTGGGATTATGATACCCCCCAGCATCTCTGGCCAG GTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCAGGTGGGGTTATGAAG TCCTCCCGGCACCTCTGGCCAGGTGCGGTTGTGAAGTACCCCAGCACCTC TGGCCAGGTGTGGTTATGAAGTCGCCCCGGCACCTCTGGCCAGGTGTGGT TATGATGGCCCCCCCGGCACCTCTAGCCAGGTGGGGTTATGAAGTTCCCC CCGCCCCCCGGCACCTCCGGCCAGCTGGGGTTATGATGGCCCCACAGCAC CTCTGCCAGGTGGGGTTATGATGTCCCCCCAGCATCTCTGGCCAGGTCAG ATTATGATACCCCCCAGCACCTCTGCCAGTTGAGGTTATGATGTCCCCCC AGCACCCCTGGCCAGGGTGGGGTTATGAAATCCCCCCCAGCACCTCTGGC CAGGTGACATTTATGAAGTCACCCCCAGCACCTCTGGCCAGGTGGGGTTA TGAAGTTCCCCCCGCCCCCCGGCA	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2273		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870274	A A	ACACCCCA others(551): Show ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCATACACACCACACACACCACACACCCC ACACACACCACACCCCACACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACACCACACCCCATACACACCACACCCCACAC ACCCCCCACACACCACACCCCATACACACCACACCCCACACACCCCCCAC ACACCACACCCCATACACACCACACCCCACACACACCACACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACAC ACCACACCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	338	0.0030	558	c.35 others(577): Show c.35+21544_*35+21545insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACACCCCCCACA CACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCATACACA CCACACACACCACACACCCCACACACACCACACCCCACACACCCCACACA CACCACACCCCATACACACCACACCCCACACACACCACACACCACACCCC ATACACACCACACCCCACACACCCCCCACACACCACACCCCATACACACC ACACCCCACACACCCCCCACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)