JoGo: Joint Open Genome and Omics Platform

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 (≤).

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⚠️ 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
OTUD1_chr10_23434075_23447377	23434900	G G	GATGATGA others(23): Show GATGATGATGATGATGATGATGATGATTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0000 a0001c0003t0004g0000	1	434	0.0023	30	c.-45 others(41): Show c.-4558_-4557insATGATGATGATGATGATGATGATGATTATT	OTUD1	ENSG00000165312.7	transcript	ENST00000376495.5	protein_coding		4174		chr10	TogoVar
OTUD1_chr10_23434075_23447377	23434900	G G	GATGATGA others(23): Show GATGATGATGATGATGATGATTATTATTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03540.hp2 HG02965.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0000 a0001c0003t0004g0000	2	434	0.0046	30	c.-45 others(41): Show c.-4558_-4557insATGATGATGATGATGATGATTATTATTATT	OTUD1	ENSG00000165312.7	transcript	ENST00000376495.5	protein_coding		4174		chr10	TogoVar
OTUD6A_chrX_70057457_70069179	70061272	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02074.hp1 HG03041.hp1 HG02015.hp1 HG02074.hp1 HG03041.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0000 a0003c0003t0001g0000 a0001c0001t0002g0000 a0003c0003t0001g0000	3	336	0.0089	30	c.-12 others(41): Show c.-1253_-1252insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding		1184		chrX	TogoVar
OTUD7A_chr15_31470398_31875673	31564387	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG01192.hp1 others(6): Show HG00609.hp2 HG00738.hp1 HG01192.hp1 HG01496.hp1 HG03225.hp2 NA18944.hp2 NA18960.hp1 NA18986.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0002c0003	a0001c0001t0004 a0001c0001t0028 a0001c0001t0059 others(5): Show a0001c0001t0004 a0001c0001t0028 a0001c0001t0059 a0001c0002t0001 a0001c0002t0030 a0001c0002t0045 a0001c0016t0001 a0002c0003t0003	a0001c0001t0004g0169 a0001c0001t0028g0177 a0001c0001t0059g0171 others(6): Show a0001c0001t0004g0169 a0001c0001t0028g0177 a0001c0001t0059g0171 a0001c0002t0001g0156 a0001c0002t0001g0176 a0001c0002t0030g0013 a0001c0002t0045g0065 a0001c0016t0001g0041 a0002c0003t0003g0192	9	244	0.0369	30	c.332 others(47): Show c.332-5201_332-5200insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	4/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31753704	A A	ATATATAT others(23): Show ATATATATATATATATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01123.hp2 others(10): Show HG00099.hp1 HG00741.hp1 HG01123.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02132.hp1 NA18973.hp1 NA19000.hp2 NA19005.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0072 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0072 a0001c0001t0082 a0001c0002t0001	a0001c0001t0005g0108 a0001c0001t0005g0110 a0001c0001t0005g0111 others(10): Show a0001c0001t0005g0108 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0150 a0001c0001t0005g0232 a0001c0001t0006g0109 a0001c0001t0006g0112 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0122 a0001c0001t0072g0145 a0001c0001t0082g0137 a0001c0002t0001g0114	13	244	0.0533	30	c.-99 others(49): Show c.-99-96628_-99-96627insATATATATATATATAATATATATATA TATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31753704	A A	ATATATAT others(23): Show ATATATATATATATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01192.hp2 HG04204.hp1 others(1): Show HG00423.hp2 HG01192.hp2 HG04204.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0057 a0001c0001t0002g0132 a0001c0001t0004g0091 others(1): Show a0001c0001t0002g0057 a0001c0001t0002g0132 a0001c0001t0004g0091 a0001c0001t0006g0124	4	244	0.0164	30	c.-99 others(49): Show c.-99-96628_-99-96627insATATATATATATATATAATATATATA TATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31753706	A A	ATATATAT others(23): Show ATATATATATATATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0123 a0001c0001t0006g0123	1	244	0.0041	30	c.-99 others(49): Show c.-99-96630_-99-96629insATATATATATATATATAATATATATA TATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860622	G G	GATAAATA others(23): Show GATAAATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp1 HG01167.hp1 others(4): Show HG00423.hp2 HG00738.hp1 HG01167.hp1 HG02486.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0065 a0001c0002t0045 a0002c0003t0003 a0002c0003t0009	a0001c0001t0002g0057 a0001c0001t0004g0072 a0001c0001t0007g0071 others(4): Show a0001c0001t0002g0057 a0001c0001t0004g0072 a0001c0001t0007g0071 a0001c0001t0065g0058 a0001c0002t0045g0065 a0002c0003t0003g0076 a0002c0003t0009g0002	7	244	0.0287	30	c.-10 others(49): Show c.-100+9884_-100+9885insATATATATATATATATATATGTATAT TTAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860622	G G	GATAAATA others(23): Show GATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19043.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0043 a0001c0006t0046 a0001c0001t0043 a0001c0006t0046	a0001c0001t0043g0241 a0001c0006t0046g0242 a0001c0001t0043g0241 a0001c0006t0046g0242	2	244	0.0082	30	c.-10 others(49): Show c.-100+9884_-100+9885insATATATATATATATATATATATATAT TTAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860677	G G	GCATATAT others(23): Show GCATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03834.hp2 HG04115.hp2 HG02486.hp1 HG03834.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0003 a0002c0003t0009 a0001c0001t0004 a0002c0003t0003 a0002c0003t0009	a0001c0001t0004g0072 a0002c0003t0003g0076 a0002c0003t0009g0002 a0001c0001t0004g0072 a0002c0003t0003g0076 a0002c0003t0009g0002	3	244	0.0123	30	c.-10 others(49): Show c.-100+9829_-100+9830insTACATATATATATATATATATATATA TATG	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTULINL_chr5_14576792_14621180	14618408	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0009 a0001c0001t0017g0009	1	380	0.0026	30	c.80 others(41): Show c.8094_*8095insACACACACACACACACACACACACACACAC	OTULINL	ENSG00000145569.6	transcript	ENST00000274217.4	protein_coding		2229		chr5	TogoVar
OTULINL_chr5_14576792_14621180	14618408	T T	TATATACA others(23): Show TATATACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0201 a0001c0001t0013g0201	1	380	0.0026	30	c.80 others(41): Show c.8094_*8095insATATACACACACACACACACACACACACAC	OTULINL	ENSG00000145569.6	transcript	ENST00000274217.4	protein_coding		2229		chr5	TogoVar
OXCT1_chr5_41725065_41875425	41859891	T T	TATATGTA others(23): Show TATATGTAATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	200	0.0050	30	c.278 others(47): Show c.278+1422_278+1423insTACATATATATATATATATATATTACAT AT	OXCT1	ENSG00000083720.13	transcript	ENST00000196371.10	protein_coding	3/16			chr5	TogoVar
OXR1_chr8_106265190_106757694	106358847	T T	TGGAATAA others(23): Show TGGAATAATTTAATTCACTAAATAATTTAGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02647.hp1 HG03486.hp1 others(1): Show HG01074.hp1 HG02647.hp1 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 others(1): Show a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0002t0002g0082	4	172	0.0233	30	c.-13 others(47): Show c.-138-657_-138-628dupGAATAATTTAATTCACTAAATAATTTAG TG	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXSR1_chr3_38160537_38260484	38161284	T T	TATATTTC others(23): Show TATATTTCATATACTATTTCATATACTATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	248	0.0040	30	c.-45 others(41): Show c.-4593_-4592insATATTTCATATACTATTTCATATACTATGC	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		4252		chr3	TogoVar
OXSR1_chr3_38160537_38260484	38162028	T T	TATTTCAT others(23): Show TATTTCATATACATATTTCATATATTATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	248	0.0040	30	c.-38 others(41): Show c.-3849_-3848insATTTCATATACATATTTCATATATTATGTA	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3508		chr3	TogoVar
OXTR_chr3_8745381_8774613	8746799	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0170 a0001c0002t0043g0170	1	474	0.0021	30	c.61 others(41): Show c.6177_*6178insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3581		chr3	TogoVar
P2RX2_chr12_132613776_132627388	132618232	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	30	c.-58 others(39): Show c.-585_-584insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		543		chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0241 a0001c0004t0001g0241	1	388	0.0026	30	c.134 others(47): Show c.134+2527_134+2528insATATATATATATATATATATATATTTTT TT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0005 a0005c0017t0005	a0005c0017t0005g0290 a0005c0017t0005g0290	1	366	0.0027	30	c.125 others(47): Show c.125+2929_125+2930insAAAAAAAAAAAAAATATATATATATATA TA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0027 a0004c0003t0027	a0004c0003t0027g0309 a0004c0003t0027g0309	1	366	0.0027	30	c.125 others(47): Show c.125+2929_125+2930insAAAAAAAAAAAATATATATATATATATA TA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RY8_chrX_1457581_1542185	1514437	C C	CTTTCCTC others(23): Show CTTTCCTCCCCTCCCTTCCCTTTCTTTTCCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0096 a0008c0010t0001g0096	1	114	0.0088	30	c.-25 others(49): Show c.-25+22483_-25+22484insAGGAAAAGAAAGGGAAGGGAGGGGAG GAAA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	189970191	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG04184.hp2 NA18946.hp2 others(2): Show HG01175.hp2 HG04184.hp2 NA18946.hp2 NA18964.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0013 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0013 a0001c0003t0003	a0001c0001t0001g0125 a0001c0001t0001g0275 a0001c0002t0002g0037 others(2): Show a0001c0001t0001g0125 a0001c0001t0001g0275 a0001c0002t0002g0037 a0001c0002t0013g0135 a0001c0003t0003g0203	5	304	0.0165	30	c.189 others(47): Show c.1893+595_1893+624dupATATATATATATATATATATATATATAT AT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(23): Show CACACACACACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02027.hp1 HG02132.hp2 others(1): Show HG00673.hp2 HG02027.hp1 HG02132.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0067 a0001c0002t0002g0132 a0001c0002t0002g0171 others(1): Show a0001c0002t0001g0067 a0001c0002t0002g0132 a0001c0002t0002g0171 a0001c0002t0002g0242	4	304	0.0132	30	c.481 others(49): Show c.481-12524_481-12523insATATATATATATGTGTGTGTGTGTGT GTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(23): Show CACACACACACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00733.hp1 others(13): Show HG00423.hp1 HG00438.hp1 HG00733.hp1 HG01168.hp2 HG02055.hp2 HG02109.hp1 HG02647.hp1 HG03471.hp1 HG03669.hp2 HG03710.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0020	a0001c0002t0001g0069 a0001c0002t0001g0124 a0001c0002t0001g0146 others(13): Show a0001c0002t0001g0069 a0001c0002t0001g0124 a0001c0002t0001g0146 a0001c0002t0002g0008 a0001c0002t0002g0062 a0001c0002t0002g0103 a0001c0002t0002g0165 a0001c0002t0002g0210 a0001c0002t0002g0245 a0001c0002t0002g0265 a0001c0002t0003g0115 a0001c0002t0003g0122 a0001c0002t0003g0192 a0001c0002t0009g0092 a0001c0002t0009g0102 a0001c0002t0020g0284	16	304	0.0526	30	c.481 others(49): Show c.481-12524_481-12523insATATATATATATATGTGTGTGTGTGT GTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(23): Show CACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0101	1	304	0.0033	30	c.481 others(49): Show c.481-12524_481-12523insATATATATATATATATGTGTGTGTGT GTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(23): Show CACACACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	304	0.0033	30	c.481 others(49): Show c.481-12524_481-12523insATATATATATATATATATATGTGTGT GTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(23): Show CACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01346.hp1 NA20752.hp1 HG01070.hp2 HG01346.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0244 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0244	3	304	0.0099	30	c.481 others(49): Show c.481-12524_481-12523insATATATATATATATATATATATGTGT GTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(23): Show CACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04204.hp2 NA18963.hp2 HG02735.hp2 HG04204.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0177 a0001c0001t0001g0282 a0001c0001t0001g0078 a0001c0001t0001g0177 a0001c0001t0001g0282	3	304	0.0099	30	c.481 others(49): Show c.481-12524_481-12523insATATATATATATATATATATATATGT GTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190041020	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01257.hp2 HG01433.hp2 others(5): Show HG00558.hp2 HG01257.hp2 HG01433.hp2 HG03492.hp2 HG04228.hp1 NA19003.hp2 NA19005.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0006	a0001c0001t0001g0071 a0001c0001t0004g0141 a0001c0001t0004g0156 others(5): Show a0001c0001t0001g0071 a0001c0001t0004g0141 a0001c0001t0004g0156 a0001c0001t0004g0194 a0001c0001t0004g0228 a0001c0002t0002g0214 a0001c0002t0002g0291 a0001c0002t0006g0131	8	304	0.0263	30	c.481 others(49): Show c.481-45579_481-45578insTATATATATATATATATATATATATA TATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(23): Show TATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02572.hp1 NA18906.hp1 others(1): Show HG01081.hp1 HG02572.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 others(1): Show a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0269	4	304	0.0132	30	c.480 others(49): Show c.480+54093_480+54094insGTGTGTGTGTGTGTATATATATATAT ATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02896.hp2 HG00738.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0181 a0001c0001t0002g0292 a0001c0001t0001g0181 a0001c0001t0002g0292	2	304	0.0066	30	c.480 others(49): Show c.480+54093_480+54094insGTGTGTGTGTGTATATATATATATAT ATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
PABIR1_chr9_68775065_68790566	68788474	T T	TTTTTGTT others(23): Show TTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG01891.hp2 HG02895.hp1 HG02897.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0000 a0001c0001t0011g0000	4	436	0.0092	30	c.74 others(41): Show c.7446_*7447insTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	PABIR1	ENSG00000187866.10	transcript	ENST00000394264.7	protein_coding		2909		chr9	TogoVar
PABPC1L2A_chrX_73072276_73084512	73080740	G G	GTAAAGCT others(23): Show GTAAAGCTGGACCAACCAGGACCAAAAGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	274	0.0037	30	c.-13 others(41): Show c.-1355_-1354insGTACTTTTGGTCCTGGTTGGTCCAGCTTTA	PABPC1L2A	ENSG00000186288.5	transcript	ENST00000373519.1	protein_coding		1229		chrX	TogoVar
PABPC1_chr8_100697916_100727088	100700663	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	30	c.26 others(41): Show c.2697_*2698insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding		2252		chr8	TogoVar
PABPN1L_chr16_88858333_88871660	88864547	C C	CGTCACGG others(23): Show CGTCACGGCCAGCACCCCTGCAGAGGGGGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01123.hp1 others(12): Show HG00741.hp1 HG00741.hp2 HG01123.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02683.hp2 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0017t0002 a0001c0001t0001 a0001c0001t0002 a0001c0017t0002	a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0051 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0051 a0001c0001t0002g0037 a0001c0017t0002g0069	15	452	0.0332	30	c.655 others(45): Show c.655-198_655-169dupCCCCCCCTCTGCAGGGGTGCTGGCCGTGAC	PABPN1L	ENSG00000205022.9	transcript	ENST00000419291.7	protein_coding	5/6			chr16	TogoVar
PACRG_chr6_162722974_163320500	162747474	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp1 HG02257.hp2 others(2): Show HG00140.hp1 HG01109.hp1 HG02257.hp2 NA18945.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0009	a0001c0001t0002g0037 a0001c0001t0004g0075 a0001c0001t0004g0079 others(2): Show a0001c0001t0002g0037 a0001c0001t0004g0075 a0001c0001t0004g0079 a0001c0001t0005g0072 a0001c0003t0009g0080	5	130	0.0385	30	c.156 others(49): Show c.156+19102_156+19103insATATATATATATATATATATATATAT ATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269867	G G	GAGAAAGA others(23): Show GAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG04184.hp2 HG02148.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0070 a0001c0001t0006g0011 a0001c0001t0004g0070 a0001c0001t0006g0011	2	130	0.0154	30	c.614 others(49): Show c.614-44949_614-44948insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS2_chr14_105309748_105403147	105335320	G G	GTGGCTCT others(23): Show GTGGCTCTGACGCTGTGGCCGGCGCCTGGCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03579.hp1 HG02258.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0030 a0001c0001t0001 a0002c0002t0030	a0001c0001t0001g0017 a0002c0002t0030g0179 a0001c0001t0001g0017 a0002c0002t0030g0179	2	210	0.0095	30	c.120 others(49): Show c.120-13168_120-13167insCTGACGCTGTGGCCGGCGCCTGGCAT GGCT	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PACS2_chr14_105309748_105403147	105335356	G G	GTGACGCT others(23): Show GTGACGCTGTGGCCGGCGCCTGGCGTGGCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02293.hp1 HG03579.hp1 HG00639.hp2 HG02293.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0006t0044 a0002c0002t0030 a0001c0001t0001 a0001c0006t0044 a0002c0002t0030	a0001c0001t0001g0159 a0001c0006t0044g0188 a0002c0002t0030g0179 a0001c0001t0001g0159 a0001c0006t0044g0188 a0002c0002t0030g0179	3	210	0.0143	30	c.120 others(49): Show c.120-13053_120-13024dupGTGGCTCTGACGCTGTGGCCGGCGCC TGGC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PACSIN2_chr22_42864773_43020149	42865810	T T	TACCCTAA others(23): Show TACCCTAACCCTAACCCTAACCCTAACCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0040 a0001c0002t0003g0040	1	294	0.0034	30	c.55 others(41): Show c.5517_*5546dupTAGGGTTAGGGTTAGGGTTAGGGTTAGGGT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding		3962		chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42982869	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	294	0.0034	30	c.-78 others(49): Show c.-78+32151_-78+32152insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0279 a0001c0002t0003g0279	1	294	0.0034	30	c.-78 others(47): Show c.-78+4622_-78+4623insAAAAAATATATATATATATATATATATA TA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PAGE1_chrX_49682447_49700984	49689977	G G	GTGTATAT others(23): Show GTGTATATATATGTGTATATACACACATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp2 HG02622.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0004 a0001c0001t0001 a0004c0006t0004	a0001c0001t0001g0051 a0004c0006t0004g0052 a0001c0001t0001g0051 a0004c0006t0004g0052	2	322	0.0062	30	c.293 others(45): Show c.293-435_293-434insTATATGTGTGTATATACACATATATATACA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49690049	G G	GTGTGTAT others(23): Show GTGTGTATATACACACATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	322	0.0031	30	c.293 others(45): Show c.293-507_293-506insTATACACATATATATGTGTGTATATACACA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAH_chr12_102831889_102922244	102835581	A A	ATACATAT others(23): Show ATACATATGCACATACATATATGTGCCTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	312	0.0032	30	c.35 others(41): Show c.3593_*3594insCGTAGGCACATATATGTATGTGCATATGTA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1307		chr12	TogoVar
PAH_chr12_102831889_102922244	102835581	A A	ATACATAT others(23): Show ATACATATGCATATACATATATGTGCCTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02109.hp1 HG01496.hp1 HG02109.hp1	a0001 a0001	a0001c0008 a0001c0009 a0001c0008 a0001c0009	a0001c0008t0018 a0001c0009t0013 a0001c0008t0018 a0001c0009t0013	a0001c0008t0018g0215 a0001c0009t0013g0240 a0001c0008t0018g0215 a0001c0009t0013g0240	2	312	0.0064	30	c.35 others(41): Show c.3593_*3594insCGTAGGCACATATATGTATATGCATATGTA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1307		chr12	TogoVar
PAH_chr12_102831889_102922244	102835581	A A	ATACATAT others(23): Show ATACATATGCATATACATATATGTGCCTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01099.hp1 others(48): Show HG00639.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03710.hp1 HG03834.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0007t0002	a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 others(47): Show a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0130 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0004g0296 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0009g0298 a0001c0001t0009g0299 a0001c0001t0012g0146 a0001c0001t0012g0190 a0001c0007t0002g0178	51	312	0.1635	30	c.35 others(41): Show c.3593_*3594insCATAGGCACATATATGTATATGCATATGTA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1307		chr12	TogoVar
PAH_chr12_102831889_102922244	102835586	T T	TATGCACA others(23): Show TATGCACATACATATATGTGCATACGTACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02895.hp2 HG03540.hp2 HG02280.hp2 HG02895.hp2 HG03540.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0031 a0001c0007t0010g0032 a0001c0007t0010g0033 a0001c0007t0010g0031 a0001c0007t0010g0032 a0001c0007t0010g0033	3	312	0.0096	30	c.35 others(41): Show c.3588_*3589insGTGTACGTATGCACATATATGTATGTGCAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1302		chr12	TogoVar
PAH_chr12_102831889_102922244	102835610	T T	TGTACATA others(23): Show TGTACATATGCACATACATATATGTGCATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0245 a0001c0003t0003g0245	1	312	0.0032	30	c.35 others(41): Show c.3564_*3565insGTATGCACATATATGTATGTGCATATGTAC	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1278		chr12	TogoVar

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