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 (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(29): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01516.hp2 others(6): Show HG00140.hp1 HG00735.hp1 HG01516.hp2 HG01934.hp2 HG01952.hp1 HG03017.hp2 HG03704.hp1 NA18946.hp2 NA18979.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0008 a0001c0001 a0001c0002 a0005c0008	a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 others(6): Show a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0002t0039 a0001c0002t0150 a0001c0002t0151 a0001c0002t0152 a0005c0008t0039	a0001c0001t0153g0140 a0001c0001t0154g0017 a0001c0001t0155g0171 others(6): Show a0001c0001t0153g0140 a0001c0001t0154g0017 a0001c0001t0155g0171 a0001c0001t0156g0010 a0001c0002t0039g0146 a0001c0002t0150g0090 a0001c0002t0151g0160 a0001c0002t0152g0124 a0005c0008t0039g0142	9	266	0.0338	36	c.-28 others(45): Show c.-282_-247dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA		RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22				36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112877403	T T	TACACACA others(29): Show TACACACACACACGTATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19007.hp2 NA19077.hp1 NA18946.hp1 NA19007.hp2 NA19077.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0096 a0002c0004t0177 a0002c0004t0186 a0002c0004t0096 a0002c0004t0177 a0002c0004t0186	a0002c0004t0096g0060 a0002c0004t0177g0121 a0002c0004t0186g0158 a0002c0004t0096g0060 a0002c0004t0177g0121 a0002c0004t0186g0158	3	266	0.0113	36	c.117 others(53): Show c.1171+550_1171+585dupGTATACACACACACACACACACACACAC ACACACAC		RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	13/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0022 a0002c0002t0017g0022	1	276	0.0036	36	c.-17 others(47): Show c.-1706_-1705insTATATATATATATATATATATATATATATTTTTT TT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02280.hp2 others(4): Show HG01884.hp2 HG02109.hp1 HG02280.hp2 HG02572.hp1 HG02970.hp1 NA19043.hp1 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0002 a0002c0002t0002g0004	7	276	0.0254	36	c.-17 others(47): Show c.-1706_-1705insTATATATATATATATATATATATATATTTTTTTT TT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03453.hp1 HG02109.hp2 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	2	276	0.0073	36	c.-17 others(47): Show c.-1706_-1705insTATATATATATATATATATATATATTTTTTTTTT TT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL14_chr3_40452339_40473587	40462029	A A	ACTGCTGC others(29): Show ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01168.hp2 HG02976.hp1 NA18949.hp1 HG01168.hp2 HG02976.hp1 NA18949.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0002 a0012c0014t0035 a0012c0014t0113 a0012c0014t0002 a0012c0014t0035 a0012c0014t0113	a0012c0014t0002g0007 a0012c0014t0035g0074 a0012c0014t0113g0002 a0012c0014t0002g0007 a0012c0014t0035g0074 a0012c0014t0113g0002	3	418	0.0072	36	c.477 others(43): Show c.477_478insGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	p.Ala others(49): Show p.Ala159_Lys160insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAl aAla	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	6/6	611/7136	478/648	160/215		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(29): Show GTCTGTCTGTCTATCTATCTATCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	418	0.0024	36	c.72 others(47): Show c.7260_*7261insTAGATAGATAGATAGATAGATAGATAGACAGACA GA		RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding					4988		chr17	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(29): Show GTCTGTCTGTCTGTCTATCTATCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 NA18966.hp1 NA19005.hp1 others(2): Show HG02015.hp1 NA18966.hp1 NA19005.hp1 NA19066.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	418	0.0120	36	c.72 others(47): Show c.7260_*7261insTAGATAGATAGATAGATAGATAGACAGACAGACA GA		RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding					4988		chr17	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(29): Show GTCTGTCTGTCTGTCTGTCTATCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	36	c.72 others(47): Show c.7260_*7261insTAGATAGATAGATAGATAGACAGACAGACAGACA GA		RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding					4988		chr17	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(29): Show GTCTGTCTGTCTGTCTGTCTGTCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	418	0.0024	36	c.72 others(47): Show c.7260_*7261insTAGATAGATAGATAGACAGACAGACAGACAGACA GA		RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding					4988		chr17	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(29): Show GTCTGTCTGTCTGTCTGTCTGTCTGTCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	36	c.72 others(47): Show c.7260_*7261insTAGATAGATAGACAGACAGACAGACAGACAGACA GA		RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding					4988		chr17	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 NA18950.hp1 NA19002.hp2 HG03710.hp2 NA18950.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0042	3	422	0.0071	36	c.26 others(47): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding					2578		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	448	0.0022	36	c.44 others(47): Show c.4408_*4409insTATATATATATATATATATATATATATATATATA TA		RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding					4328		chr8	TogoVar
RPN2_chr20_37174330_37246619	37187501	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	346	0.0029	36	c.207 others(53): Show c.207+3147_207+3148insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		RPN2	ENSG00000118705.18	transcript	ENST00000237530.11	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
RPRD1A_chr18_35984824_36072559	36008571	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG02647.hp1 others(3): Show HG00140.hp1 HG01243.hp1 HG02647.hp1 HG04199.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0008 a0001c0001t0002 a0001c0002t0001 a0001c0003t0008	a0001c0001t0002g0012 a0001c0001t0002g0048 a0001c0001t0002g0084 others(2): Show a0001c0001t0002g0012 a0001c0001t0002g0048 a0001c0001t0002g0084 a0001c0002t0001g0310 a0001c0003t0008g0005	6	318	0.0189	36	c.790 others(55): Show c.790-15272_790-15271insTATATATATATATATATATATATATA TATATATATA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008573	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	318	0.0031	36	c.790 others(55): Show c.790-15274_790-15273insTATATATATATATATATATATATATA TATATATATA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18969.hp2 NA21309.hp2 NA18941.hp1 NA18969.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0220 a0001c0001t0004g0183 a0001c0001t0004g0221 a0001c0001t0001g0220 a0001c0001t0004g0183 a0001c0001t0004g0221	3	318	0.0094	36	c.790 others(55): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATACACA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02630.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0287 a0001c0001t0005g0289 a0001c0001t0005g0287 a0001c0001t0005g0289	2	318	0.0063	36	c.790 others(55): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATACACACA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(29): Show GTGTGTGTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	318	0.0031	36	c.790 others(55): Show c.790-15278_790-15277insTATATATATATATATATATATATATA CATACACACA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(29): Show GTGTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02818.hp2 HG01070.hp1 HG01071.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0005g0288 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0005g0288	3	318	0.0094	36	c.790 others(55): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TACACACACA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008589	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0271 a0001c0001t0017g0271	1	318	0.0031	36	c.790 others(55): Show c.790-15290_790-15289insGATATATATATATATATATATATATA TATATATATA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPS6KA6_chrX_84053350_84193199	84140758	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0061 a0002c0002t0003g0061	1	272	0.0037	36	c.501 others(53): Show c.501+4719_501+4720insATATATATATATATATATATATATATAT ATATATAT		RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21						chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp2 HG02080.hp1 others(3): Show HG01123.hp2 HG01167.hp2 HG02080.hp1 HG02132.hp1 NA18990.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0293 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0307	6	330	0.0182	36	c.472 others(51): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPTOR_chr17_80539838_80971368	80544492	G G	GTATTTTG others(29): Show GTATTTTGCTTTTTTTTTTTTTTATTTTTTTTTTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0036 a0001c0008t0036	a0001c0008t0036g0002 a0001c0008t0036g0002	1	196	0.0051	36	c.-11 others(47): Show c.-1138_-1137insTATTTTGCTTTTTTTTTTTTTTATTTTTTTTTTT GT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding					345		chr17	TogoVar
RPTOR_chr17_80539838_80971368	80634653	T T	TGTGCATA others(29): Show TGTGCATACTGTGTGTGTGTGCGTACTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01516.hp1 HG02273.hp2 others(3): Show HG00438.hp2 HG01516.hp1 HG02273.hp2 HG03831.hp1 HG03834.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0018 a0001c0030 others(2): Show a0001c0003 a0001c0018 a0001c0030 a0001c0051 a0001c0052	a0001c0003t0004 a0001c0018t0016 a0001c0030t0003 others(2): Show a0001c0003t0004 a0001c0018t0016 a0001c0030t0003 a0001c0051t0060 a0001c0052t0003	a0001c0003t0004g0119 a0001c0018t0016g0120 a0001c0030t0003g0115 others(3): Show a0001c0003t0004g0119 a0001c0018t0016g0120 a0001c0030t0003g0115 a0001c0030t0003g0117 a0001c0051t0060g0116 a0001c0052t0003g0149	6	196	0.0306	36	c.265 others(53): Show c.265+8861_265+8862insTGCATACTGTGTGTGTGTGCGTACTGTG TGTGTGCG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0005 a0001c0019t0005	a0001c0019t0005g0037 a0001c0019t0005g0037	1	196	0.0051	36	c.349 others(55): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATATATTTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743903	G G	GAGCACTG others(29): Show GAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0091 a0001c0045t0091	a0001c0045t0091g0036 a0001c0045t0091g0036	1	196	0.0051	36	c.655 others(55): Show c.655-10102_655-10101insTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743903	G G	GAGCACTG others(29): Show GAGCACTGTCCTGGTTACTAGCAGAGCCCTGGTTACT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp2 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0064 a0001c0068 a0001c0064 a0001c0068	a0001c0064t0006 a0001c0068t0025 a0001c0064t0006 a0001c0068t0025	a0001c0064t0006g0106 a0001c0068t0025g0104 a0001c0064t0006g0106 a0001c0068t0025g0104	2	196	0.0102	36	c.655 others(55): Show c.655-10102_655-10101insTGTCCTGGTTACTAGCAGAGCCCTGG TTACTAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743908	C C	CAGCCCTG others(29): Show CAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0069 a0001c0007t0069	a0001c0007t0069g0128 a0001c0007t0069g0128	1	196	0.0051	36	c.655 others(55): Show c.655-10094_655-10093insCTACTAGCAGAGCCCTGGCTACTAGC AGAGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743926	G G	GAGCCCTG others(29): Show GAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18980.hp2 NA20300.hp1 HG03654.hp1 NA18980.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0001c0013 a0004c0082 a0001c0006 a0001c0013 a0004c0082	a0001c0006t0013 a0001c0013t0089 a0004c0082t0010 a0001c0006t0013 a0001c0013t0089 a0004c0082t0010	a0001c0006t0013g0068 a0001c0013t0089g0047 a0004c0082t0010g0052 a0001c0006t0013g0068 a0001c0013t0089g0047 a0004c0082t0010g0052	3	196	0.0153	36	c.655 others(55): Show c.655-10076_655-10075insCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743929	C C	CCCTGGCT others(29): Show CCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp2 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0064 a0001c0068 a0001c0064 a0001c0068	a0001c0064t0006 a0001c0068t0025 a0001c0064t0006 a0001c0068t0025	a0001c0064t0006g0106 a0001c0068t0025g0104 a0001c0064t0006g0106 a0001c0068t0025g0104	2	196	0.0102	36	c.655 others(55): Show c.655-10076_655-10075insCTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743989	T T	TTACTAGC others(29): Show TTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0082 a0001c0006t0082	a0001c0006t0082g0015 a0001c0006t0082g0015	1	196	0.0051	36	c.655 others(55): Show c.655-10019_655-10018insCTAGCACAGCCCTGGTTACGAGCACA GCCCTGGCTA		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744001	C C	CCCTGGTT others(29): Show CCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0135 a0001c0019t0003g0135	1	196	0.0051	36	c.655 others(54): Show c.655-10000_655-9999insGAGCACTGTCCTGGCTACTAGCACTGT CCTGGTTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744007	T T	TTACTAGC others(29): Show TTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0058 a0001c0066t0058	a0001c0066t0058g0126 a0001c0066t0058g0126	1	196	0.0051	36	c.655 others(53): Show c.655-9976_655-9975insTATCCTGGCTACTAGCACAGCCCTGGTT ACTAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744019	C C	CCCTGGTT others(29): Show CCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0118 a0001c0002t0017g0118	1	196	0.0051	36	c.655 others(53): Show c.655-9982_655-9981insGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744020	C C	CCTGGTTA others(29): Show CCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0032 a0001c0014t0002g0032	1	196	0.0051	36	c.655 others(53): Show c.655-9982_655-9981insGAGCACAGCCCTGGTTACGAGCACTGTG CTGGTTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744043	T T	TTACTAGC others(29): Show TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	196	0.0051	36	c.655 others(53): Show c.655-9932_655-9931insCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744065	T T	TAGCACAG others(29): Show TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0074 a0001c0005t0074	a0001c0005t0074g0008 a0001c0005t0074g0008	1	196	0.0051	36	c.655 others(53): Show c.655-9940_655-9939insAGCCCTGGCTACTAGCACTGTCCTGGCT ACGAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744065	T T	TAGCACAG others(29): Show TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0025 a0001c0068t0025	a0001c0068t0025g0104 a0001c0068t0025g0104	1	196	0.0051	36	c.655 others(53): Show c.655-9940_655-9939insAGCCCTGGCTACTAGCACTGTCCTGGTT ACGAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744073	T T	TCCTGGCT others(29): Show TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0081 a0001c0081	a0001c0081t0002 a0001c0081t0002	a0001c0081t0002g0022 a0001c0081t0002g0022	1	196	0.0051	36	c.655 others(53): Show c.655-9932_655-9931insCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744073	T T	TCCTGGCT others(29): Show TCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0135 a0001c0019t0003g0135	1	196	0.0051	36	c.655 others(53): Show c.655-9932_655-9931insCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744091	C C	CCCTGGTT others(29): Show CCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0069 a0001c0003t0010g0069	1	196	0.0051	36	c.655 others(53): Show c.655-9910_655-9909insGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744142	C C	CAGCCCTG others(29): Show CAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0004 a0001c0004t0035g0004	1	196	0.0051	36	c.655 others(53): Show c.655-9868_655-9867insAGCCCTGGTTACTAGCACTGTCCTGGTT ACTAGCAG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744145	T T	TCCTGGCT others(29): Show TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0023 a0001c0004t0033g0023	1	196	0.0051	36	c.655 others(53): Show c.655-9860_655-9859insCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744235	C C	CCCTGGCT others(29): Show CCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0118 a0001c0002t0017g0118	1	196	0.0051	36	c.655 others(53): Show c.655-9770_655-9769insCTACTAGCACAGCCCTGGTTACTAGCAC TGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744253	T T	TCCTGGCT others(29): Show TCCTGGCTACTAGCACAGCCCTGGTTACGAGCACAGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0009 a0001c0018t0009	a0001c0018t0009g0066 a0001c0018t0009g0066	1	196	0.0051	36	c.655 others(53): Show c.655-9730_655-9729insGAGCACAGCCCTGGCTACTAGCACAGCC CTGGTTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744253	T T	TCCTGGTT others(29): Show TCCTGGTTACGAGCACTGTCCTGGTTACTAGCAGAGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0029 a0001c0011t0029	a0001c0011t0029g0196 a0001c0011t0029g0196	1	196	0.0051	36	c.655 others(53): Show c.655-9752_655-9751insTTACGAGCACTGTCCTGGTTACTAGCAG AGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744263	T T	TAGCACTG others(29): Show TAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0074 a0001c0005t0074	a0001c0005t0074g0008 a0001c0005t0074g0008	1	196	0.0051	36	c.655 others(53): Show c.655-9742_655-9741insTGTCCTGGTTACTAGCACAGCCCTGGTT ACGAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744279	A A	ACTAGCAG others(29): Show ACTAGCAGAGCCCTGGTTACTAGCAGAGCCCTGGCTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0063 a0001c0006t0063	a0001c0006t0063g0160 a0001c0006t0063g0160	1	196	0.0051	36	c.655 others(53): Show c.655-9725_655-9724insGAGCCCTGGTTACTAGCAGAGCCCTGGC TTCTAGCA		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744289	T T	TCCTGGTT others(29): Show TCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0004 a0001c0004t0035g0004	1	196	0.0051	36	c.655 others(53): Show c.655-9716_655-9715insTTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar

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