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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTPN2_chr18_12787152_12889237	12870429	A A	ATATATAT others(29): Show ATATATATACGTATATATATGTGTGTGTATATATATG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03225.hp1 HG02896.hp2 HG02897.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0103 a0001c0001t0010g0104 a0001c0001t0010g0105 a0001c0001t0010g0103 a0001c0001t0010g0104 a0001c0001t0010g0105	3	370	0.0081	36	c.70- others(53): Show c.70-11176_70-11175insCATATATATACACACACATATATATACG TATATATA	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12876296	A A	AAAGAAGA others(29): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01123.hp1 others(5): Show HG00642.hp1 HG00738.hp2 HG01123.hp1 HG02735.hp2 HG03831.hp1 NA18944.hp2 NA18968.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0029	a0001c0001t0001g0048 a0001c0001t0002g0029 a0001c0001t0002g0030 others(5): Show a0001c0001t0001g0048 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0047 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0010g0046 a0001c0001t0029g0370	8	370	0.0216	36	c.69+ others(51): Show c.69+7776_69+7777insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPN3_chr9_109370700_109503307	109402353	A A	ATCAACGC others(29): Show ATCAACGCAACCTCGTGCCACGCACCGCCCTTCCACC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0007 a0001c0001t0036g0007	1	290	0.0035	36	c.195 others(55): Show c.1953+2094_1953+2095insGGTGGAAGGGCGGTGCGTGGCACGAG GTTGCGTTGA	PTPN3	ENSG00000070159.14	transcript	ENST00000374541.4	protein_coding	19/25			chr9	TogoVar
PTPN4_chr2_119754922_119989899	119845253	G G	GGAGGGAG others(29): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0227 a0001c0001t0026g0227	1	252	0.0040	36	c.139 others(55): Show c.139-17278_139-17277insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPRB_chr12_70510870_70642429	70589690	C C	CAGTGTTT others(29): Show CAGTGTTTGTTTTCAGAATGTATGCATCTTACTCTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01943.hp2 HG01978.hp1 others(35): Show HG01361.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02083.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18993.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19058.hp2 NA19060.hp2 NA19066.hp2 NA19078.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0005 a0013 a0015 a0016 a0023 a0039	a0002c0007 a0002c0012 a0002c0025 others(14): Show a0002c0007 a0002c0012 a0002c0025 a0002c0027 a0003c0093 a0004c0008 a0004c0013 a0004c0024 a0004c0032 a0004c0054 a0005c0036 a0013c0066 a0015c0039 a0016c0052 a0016c0053 a0023c0080 a0039c0063	a0002c0007t0002 a0002c0007t0004 a0002c0012t0002 others(20): Show a0002c0007t0002 a0002c0007t0004 a0002c0012t0002 a0002c0012t0035 a0002c0025t0001 a0002c0027t0001 a0003c0093t0001 a0004c0008t0002 a0004c0008t0003 a0004c0008t0004 a0004c0013t0001 a0004c0024t0002 a0004c0024t0004 a0004c0032t0003 a0004c0032t0004 a0004c0054t0036 a0005c0036t0003 a0013c0066t0002 a0015c0039t0003 a0016c0052t0001 a0016c0053t0001 a0023c0080t0002 a0039c0063t0001	a0002c0007t0002g0068 a0002c0007t0002g0086 a0002c0007t0004g0067 others(35): Show a0002c0007t0002g0068 a0002c0007t0002g0086 a0002c0007t0004g0067 a0002c0007t0004g0276 a0002c0007t0004g0295 a0002c0012t0002g0049 a0002c0012t0002g0052 a0002c0012t0002g0124 a0002c0012t0002g0278 a0002c0012t0002g0281 a0002c0012t0002g0293 a0002c0012t0035g0109 a0002c0025t0001g0298 a0002c0027t0001g0059 a0002c0027t0001g0076 a0002c0027t0001g0279 a0003c0093t0001g0036 a0004c0008t0002g0139 a0004c0008t0002g0141 a0004c0008t0002g0153 a0004c0008t0002g0171 a0004c0008t0003g0018 a0004c0008t0003g0160 a0004c0008t0004g0159 a0004c0013t0001g0217 a0004c0013t0001g0269 a0004c0024t0002g0147 a0004c0024t0004g0223 a0004c0032t0003g0210 a0004c0032t0004g0148 a0004c0054t0036g0268 a0005c0036t0003g0200 a0013c0066t0002g0228 a0015c0039t0003g0030 a0016c0052t0001g0209 a0016c0053t0001g0182 a0023c0080t0002g0060 a0039c0063t0001g0138	38	300	0.1267	36	c.205 others(53): Show c.2050+238_2050+273dupAAAGAGTAAGATGCATACATTCTGAAAA CAAACACT	PTPRB	ENSG00000127329.16	transcript	ENST00000334414.11	protein_coding	8/33			chr12	TogoVar
PTPRD_chr9_8309246_10618002	8353830	A A	ATGTATAT others(29): Show ATGTATATATGTGTATATATGTATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03579.hp1 HG02257.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0022 a0001c0018t0004 a0001c0001t0022 a0001c0018t0004	a0001c0001t0022g0012 a0001c0018t0004g0020 a0001c0001t0022g0012 a0001c0018t0004g0020	2	34	0.0588	36	c.466 others(57): Show c.4662-11853_4662-11852insCATATATACATATATACATATATA CACATATATACA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	39/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8929885	G G	GTATATAT others(29): Show GTATATATATGTGTATATATGTATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	34	0.0294	36	c.-10 others(57): Show c.-104+88811_-104+88812insTATATACACATATATACATATATA CACATATATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9947365	A A	ATATATAG others(29): Show ATATATAGTATATATATATTATATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02257.hp2 HG01981.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0018 a0001c0001t0019g0023 a0001c0001t0002g0018 a0001c0001t0019g0023	2	34	0.0588	36	c.-47 others(55): Show c.-471-8756_-471-8755insATATATATTATATATATAATATATAT ATACTATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9964057	C C	CAGGCAGA others(29): Show CAGGCAGAGACGGAGGCAGAGACGGAGGCAGAGACGG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0023 a0001c0001t0019g0023	1	34	0.0294	36	c.-47 others(57): Show c.-471-25448_-471-25447insCCGTCTCTGCCTCCGTCTCTGCCT CCGTCTCTGCCT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9998129	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0025 a0001c0002t0005g0025	1	34	0.0294	36	c.-47 others(57): Show c.-472+35588_-472+35589insATATATATATATATATATATATAT ATATATATTTTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10509557	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0022 a0001c0001t0013g0022	1	34	0.0294	36	c.-60 others(59): Show c.-600+102840_-600+102841insTATATATATATATATATATATA TATATATATATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61621051	A A	ATATATAT others(29): Show ATATATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	94	0.0106	36	c.85+ others(53): Show c.85+58680_85+58681insATATATATATATATATATATGTGTGTGT GTGTGTGT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61621051	A A	ATATATAT others(29): Show ATATATATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	94	0.0106	36	c.85+ others(53): Show c.85+58680_85+58681insATATATATATATATATATGTGTGTGTGT GTGTGTGT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61926609	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02683.hp2 NA18998.hp2 HG02145.hp2 HG02683.hp2 NA18998.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0003 a0002c0003t0002 a0003c0004t0003 a0001c0001t0003 a0002c0003t0002 a0003c0004t0003	a0001c0001t0003g0012 a0002c0003t0002g0052 a0003c0004t0003g0008 a0001c0001t0003g0012 a0002c0003t0002g0052 a0003c0004t0003g0008	3	94	0.0319	36	c.191 others(55): Show c.191-63013_191-63012insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCTTCC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61926609	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02258.hp2 HG01169.hp2 HG02258.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0004 a0001c0001t0001 a0006c0007t0004	a0001c0001t0001g0009 a0006c0007t0004g0060 a0001c0001t0001g0009 a0006c0007t0004g0060	2	94	0.0213	36	c.191 others(55): Show c.191-63013_191-63012insCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61995682	G G	GCCCGCCT others(29): Show GCCCGCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	94	0.0106	36	c.370 others(53): Show c.370+5880_370+5881insCGCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62265896	T T	TATACACA others(29): Show TATACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	94	0.0106	36	c.265 others(55): Show c.2657-1513_2657-1512insTACACACACACACACACACACACACA CACACACACA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRH_chr19_55176247_55214501	55208672	C C	CTGGGGGT others(29): Show CTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00733.hp2 others(11): Show HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01106.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG02071.hp2 HG02602.hp1 HG02717.hp2 HG03471.hp1 HG04184.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0018 a0002c0002 others(2): Show a0001c0001 a0001c0018 a0002c0002 a0003c0003 a0007c0012	a0001c0001t0001 a0001c0018t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0018t0001 a0002c0002t0002 a0003c0003t0003 a0007c0012t0001	a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0018t0001g0318 others(6): Show a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0018t0001g0318 a0002c0002t0002g0004 a0002c0002t0002g0009 a0002c0002t0002g0051 a0002c0002t0002g0319 a0003c0003t0003g0155 a0007c0012t0001g0147	14	378	0.0370	36	c.51+ others(49): Show c.51+710_51+711insACCTCTCCTCCCTCAAACCAGAGGTCGAGACC CCCA	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208909	C C	CGGGTCTG others(29): Show CGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02040.hp2 HG02004.hp2 HG02040.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0099 a0001c0001 a0014c0099	a0001c0001t0008 a0014c0099t0001 a0001c0001t0008 a0014c0099t0001	a0001c0001t0008g0041 a0014c0099t0001g0042 a0001c0001t0008g0041 a0014c0099t0001g0042	2	378	0.0053	36	c.51+ others(49): Show c.51+438_51+473dupAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAG ACCC	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRM_chr18_7562316_8411856	7834491	T T	TACACACA others(29): Show TACACACACACACACACATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0061 a0001c0020t0001g0061	1	80	0.0125	36	c.197 others(55): Show c.197-53598_197-53597insTACACACACACACACACACACACACA CACACACACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7985469	G G	GTATATAA others(29): Show GTATATAAATATATACATATACTGGTAGATACGTATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	80	0.0125	36	c.113 others(57): Show c.1132+30057_1132+30058insTATAAATATATACATATACTGGTA GATACGTATATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8054297	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0033 a0001c0003t0002g0033	1	80	0.0125	36	c.113 others(57): Show c.1133-15389_1133-15388insTATATATATATATATATATATATA TATATATATATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32			chr18	TogoVar
PTPRM_chr18_7562316_8411856	8054298	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG01891.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0058 a0001c0003t0001g0019 a0001c0001t0001g0058 a0001c0003t0001g0019	2	80	0.0250	36	c.113 others(57): Show c.1133-15364_1133-15363insATATATATATATATATATATATAT ATATATATATAT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRS_chr19_5200508_5345812	5303954	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02895.hp2 HG02809.hp2 HG02895.hp2	a0001 a0001	a0001c0012 a0001c0017 a0001c0012 a0001c0017	a0001c0012t0035 a0001c0017t0037 a0001c0012t0035 a0001c0017t0037	a0001c0012t0035g0068 a0001c0017t0037g0053 a0001c0012t0035g0068 a0001c0017t0037g0053	2	276	0.0073	36	c.-94 others(55): Show c.-94-17721_-94-17720insATTATTATTATTATTTTTTTTTTTTT TTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	1/37			chr19	TogoVar
PTPRT_chr20_42067756_43194906	42404972	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02965.hp2 HG02155.hp2 HG02965.hp2	a0002 a0002	a0002c0001 a0002c0013 a0002c0001 a0002c0013	a0002c0001t0019 a0002c0013t0001 a0002c0001t0019 a0002c0013t0001	a0002c0001t0019g0023 a0002c0013t0001g0016 a0002c0001t0019g0023 a0002c0013t0001g0016	2	62	0.0323	36	c.156 others(57): Show c.1560+43247_1560+43248insTATATATATATATATATATATATA TATATATATATA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	9/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42855473	C C	CCAGGCTG others(29): Show CCAGGCTGGAGTGCTGTGGTACAATCTCGGCTCACTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0009 a0007c0010t0009	a0007c0010t0009g0021 a0007c0010t0009g0021	1	62	0.0161	36	c.214 others(55): Show c.214+30298_214+30333dupCAGTGAGCCGAGATTGTACCACAGCA CTCCAGCCTG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	2/30			chr20	TogoVar
PTTG1IP_chr21_44844598_44878690	44873903	T T	TGGGCGAG others(29): Show TGGGCGAGGCGTGACCGAGGGGCGAGGCGTGACCGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02976.hp1 NA18940.hp2 others(6): Show HG02083.hp1 HG02976.hp1 NA18940.hp2 NA18945.hp2 NA18950.hp1 NA19009.hp2 NA19058.hp1 NA19070.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0001g0089 a0001c0001t0002g0170 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0089 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0003g0001 a0001c0001t0003g0044 a0001c0001t0003g0242 a0001c0001t0006g0018	9	444	0.0203	36	c.-28 others(45): Show c.-288_-287insCTCGGTCACGCCTCGCCCCTCGGTCACGCCTCGCCC	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding		214		chr21	TogoVar
PTTG1IP_chr21_44844598_44878690	44873934	A A	ACCGAGGG others(29): Show ACCGAGGGGCGAGGCGTGGCCGAGGGGCGAGGCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	444	0.0023	36	c.-31 others(45): Show c.-319_-318insCCACGCCTCGCCCCTCGGCCACGCCTCGCCCCTCGG	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding		245		chr21	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	334	0.0030	36	c.364 others(55): Show c.364-10121_364-10120insAAAAAATATATATATATATATATATA TATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0141 a0001c0004t0002g0141	1	334	0.0030	36	c.364 others(55): Show c.364-10121_364-10120insAAAAAAAATATATATATATATATATA TATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31067115	A A	AAAATATA others(29): Show AAAATATATATATACACATATATGTATATATACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02486.hp1 HG01255.hp2 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0050 a0001c0002t0001g0023 a0001c0002t0001g0050	2	334	0.0060	36	c.-15 others(47): Show c.-1512_-1511insATATGTATATATACATATATGTGTATATATATAT TT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding		1399		chr1	TogoVar
PUM1_chr1_30926506_31070717	31067119	T T	TATATATA others(29): Show TATATATATACACATATATGTATATATACATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	334	0.0030	36	c.-15 others(47): Show c.-1516_-1515insGTATATATGTATATATACATATATGTGTATATAT AT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding		1403		chr1	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02071.hp1 NA18747.hp2 others(1): Show HG00558.hp1 HG02071.hp1 NA18747.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0336 others(1): Show a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0336 a0001c0001t0003g0319	4	358	0.0112	36	c.195 others(55): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUS7_chr7_105451503_105527271	105455576	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01081.hp2 HG02559.hp1 others(2): Show HG00609.hp2 HG01081.hp2 HG02559.hp1 HG02622.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0071 a0001c0001t0001g0087 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0001g0159 a0001c0001t0001g0200	5	350	0.0143	36	c.22 others(47): Show c.2213_*2214insATATATATATATATATATATATATATATATATAT AT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		926		chr7	TogoVar
PVALEF_chr17_81160507_81188166	81184277	A A	ACTTTCCC others(29): Show ACTTTCCCTCTGACCTGAGACCCCCAGGTCCTGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0275 a0006c0009t0001g0275	1	408	0.0025	36	c.12 others(47): Show c.1266_*1267insCTTTCCCTCTGACCTGAGACCCCCAGGTCCTGCC CC	PVALEF	ENSG00000225180.8	transcript	ENST00000637878.2	protein_coding		1112		chr17	TogoVar
PWWP2A_chr5_160086339_160124450	160109790	T T	TATATATA others(29): Show TATATATATATATATATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	384	0.0026	36	c.584 others(53): Show c.584+9014_584+9015insTATTATATTATTTTATATATATATATAT ATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2B_chr10_132392200_132422859	132421760	G G	GCAGGAGA others(29): Show GCAGGAGAGCTTCCCTGTGCGGGCAGGCGTCGCGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	374	0.0027	36	c.47 others(47): Show c.4716_*4717insCAGGAGAGCTTCCCTGTGCGGGCAGGCGTCGCGC GT	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		3902		chr10	TogoVar
PXDNL_chr8_51314577_51814445	51553771	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0003 a0008c0008t0003	a0008c0008t0003g0007 a0008c0008t0003g0007	1	122	0.0082	36	c.380 others(53): Show c.380+3068_380+3069insGTGTGTGTATATATATATATATATATAT ATATATAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51743908	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02155.hp2 HG03492.hp1 HG01496.hp1 HG02155.hp2 HG03492.hp1	a0001 a0007 a0027 a0001 a0007 a0027	a0001c0032 a0007c0007 a0027c0031 a0001c0032 a0007c0007 a0027c0031	a0001c0032t0002 a0007c0007t0001 a0027c0031t0002 a0001c0032t0002 a0007c0007t0001 a0027c0031t0002	a0001c0032t0002g0106 a0007c0007t0001g0029 a0027c0031t0002g0121 a0001c0032t0002g0106 a0007c0007t0001g0029 a0027c0031t0002g0121	3	122	0.0246	36	c.164 others(55): Show c.164+65272_164+65273insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1711583	A A	ACTCTCCA others(29): Show ACTCTCCACCAGCACCCACTCTCCACCAGCATCCACT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0130 a0001c0001t0005g0130	1	322	0.0031	36	c.201 others(55): Show c.201-18450_201-18449insAGTGGATGCTGGTGGAGAGTGGGTGC TGGTGGAGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	412	0.0024	36	c.49+ others(53): Show c.49+11074_49+11075insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
QRFPR_chr4_121323642_121386018	121380186	G G	GGAGAGAG others(29): Show GGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0333 a0001c0001t0003g0333	1	384	0.0026	36	c.340 others(51): Show c.340+121_340+122insTCTCTCTCTCTCTCTCTCTCTCTCTCCCTC TCTCTC	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
QRICH1_chr3_49024707_49099071	49050248	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA20129.hp1 HG02976.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0107 a0001c0001t0001g0108	2	226	0.0089	36	c.133 others(55): Show c.1339-3003_1339-3002insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	3/9			chr3	TogoVar
RAB10_chr2_26029084_26142454	26057620	T T	TTTCATTC others(29): Show TTTCATTCATTCATTCATTCATTCATTCATTCATTCA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	212	0.0047	36	c.127 others(55): Show c.127+22905_127+22906insTTCATTCATTCATTCATTCATTCATT CATTCATTCA	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB20_chr13_110518066_110566722	110561766	G G	GCCCCGCC others(29): Show GCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18995.hp2 NA19079.hp2 NA18942.hp2 NA18995.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0255 a0001c0001t0001g0344 a0001c0002t0002g0002 a0001c0001t0001g0255 a0001c0001t0001g0344 a0001c0002t0002g0002	3	426	0.0070	36	c.-24 others(45): Show c.-248_-247insGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGG	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding		45		chr13	TogoVar
RAB27A_chr15_55197966_55294813	55210193	G G	GTGTATAT others(29): Show GTGTATATATACATACACACATATATATGTATGTGTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp1 HG01167.hp1 others(35): Show HG00280.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01358.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02809.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 others(4): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0028 a0001c0001t0031 a0002c0005t0003	a0001c0001t0003g0028 a0001c0001t0003g0126 a0001c0001t0003g0148 others(35): Show a0001c0001t0003g0028 a0001c0001t0003g0126 a0001c0001t0003g0148 a0001c0001t0003g0195 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0278 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0303 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0317 a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0017 a0001c0001t0012g0300 a0001c0001t0012g0302 a0001c0001t0012g0308 a0001c0001t0016g0185 a0001c0001t0016g0285 a0001c0001t0028g0288 a0001c0001t0031g0124 a0002c0005t0003g0010	38	320	0.1188	36	c.468 others(53): Show c.468-4489_468-4488insTACACATACATATATATGTGTGTATGTA TATATACA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55241612	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02809.hp1 HG02055.hp2 HG02559.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0299 a0001c0001t0003g0294 a0001c0001t0003g0298 a0001c0001t0001g0299 a0001c0001t0003g0294 a0001c0001t0003g0298	3	320	0.0094	36	c.-22 others(53): Show c.-22-6657_-22-6656insCACATATATATATATATATATATATATA TATATATA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55241624	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0218 a0001c0001t0011g0218	1	320	0.0031	36	c.-22 others(53): Show c.-22-6669_-22-6668insCACACACATATATATATATATATATATA TATATATA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB27B_chr18_54823477_54900516	54850333	G G	GACATATA others(29): Show GACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01433.hp2 HG01496.hp1 others(1): Show HG00438.hp2 HG01433.hp2 HG01496.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0133 a0001c0001t0002g0234 a0001c0001t0003g0034 others(1): Show a0001c0001t0001g0133 a0001c0001t0002g0234 a0001c0001t0003g0034 a0001c0001t0003g0154	4	334	0.0120	36	c.-20 others(55): Show c.-20+21634_-20+21635insCATATATATATATATATATATATATA TATATATATA	RAB27B	ENSG00000041353.10	transcript	ENST00000262094.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB2A_chr8_60511987_60628644	60605832	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01167.hp1 others(2): Show HG01070.hp2 HG01071.hp2 HG01167.hp1 HG03098.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0287 a0001c0001t0005g0294 a0001c0001t0005g0295 others(2): Show a0001c0001t0005g0287 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0307	5	358	0.0140	36	c.475 others(55): Show c.475-12741_475-12740insTATATATATATATATATATATATATA TATATATATA	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr8	TogoVar

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