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
PTPRD_chr9_8309246_10618002	9208020	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0025 a0001c0014t0025	a0001c0014t0025g0033 a0001c0014t0025g0033	1	34	0.0294	25	c.-20 others(46): Show c.-202-24658_-202-24657insAAAAAAAAAAAAAAAAAAAAAAAA A	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	9/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9328618	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0021 a0001c0011t0005g0021	1	34	0.0294	25	c.-20 others(46): Show c.-203+68806_-203+68830dupAAAAAAAAAAAAAAAAAAAAAAAA A	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	9/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9403290	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0012 a0001c0001t0022g0012	1	34	0.0294	25	c.-23 others(44): Show c.-236-5809_-236-5808insTTTTTTTTTTTTTTTTTTTTTTTTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	8/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9998127	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0017 a0001c0002t0009g0017	1	34	0.0294	25	c.-47 others(46): Show c.-472+35590_-472+35591insATATATATATATATATATATATAT A	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10564171	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03579.hp1 HG01981.hp1 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0022 a0003c0008t0008 a0001c0001t0022 a0003c0008t0008	a0001c0001t0022g0012 a0003c0008t0008g0003 a0001c0001t0022g0012 a0003c0008t0008g0003	2	34	0.0588	25	c.-60 others(46): Show c.-600+48226_-600+48227insAAAAAAAAAAAAAAAAAAAAAAAA A	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRE_chr10_127902103_128090855	128010545	C C	CCTTTTCT others(18): Show CCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01192.hp2 HG02257.hp1 others(9): Show HG00280.hp2 HG01192.hp2 HG02257.hp1 HG02818.hp2 HG03130.hp1 HG03579.hp1 HG04199.hp1 NA18906.hp2 NA18995.hp2 NA19010.hp2 NA19030.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0002t0006 a0001c0002t0023 a0001c0003t0002 a0001c0003t0013 a0001c0003t0020	a0001c0001t0003g0073 a0001c0001t0003g0079 a0001c0001t0003g0115 others(9): Show a0001c0001t0003g0073 a0001c0001t0003g0079 a0001c0001t0003g0115 a0001c0001t0005g0241 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0008g0258 a0001c0002t0006g0210 a0001c0002t0023g0137 a0001c0003t0002g0249 a0001c0003t0013g0225 a0001c0003t0020g0291	12	304	0.0395	25	c.-8+ others(42): Show c.-8+28274_-8+28298dupTCTTTTCTTTTCTTTTCTTTTCTTT	PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPRG_chr3_61556571_62302609	61676456	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	94	0.0106	25	c.86- others(42): Show c.86-72404_86-72403insAAAAAAAAAAAAAAAAAAAAAAAAA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRM_chr18_7562316_8411856	7772244	T T	TTTTTCTT others(18): Show TTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02280.hp1 others(2): Show HG01891.hp2 HG02109.hp2 HG02280.hp1 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0006t0002	a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0003g0077 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0003g0077 a0001c0003t0002g0033 a0001c0006t0002g0012	5	80	0.0625	25	c.74- others(40): Show c.74-1886_74-1862dupTCTTTTCTTTTCTTTTCTTTTCTTT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRQ_chr12_80439235_80685273	80558119	C C	CTTTCTTT others(18): Show CTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01081.hp2 others(6): Show HG00639.hp2 HG01081.hp1 HG01081.hp2 HG01192.hp1 HG02300.hp1 HG03098.hp1 NA18964.hp1 NA18991.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0022 others(2): Show a0001 a0002 a0022 a0035 a0060	a0001c0001 a0001c0025 a0002c0002 others(3): Show a0001c0001 a0001c0025 a0002c0002 a0022c0022 a0035c0077 a0060c0061	a0001c0001t0001 a0001c0001t0002 a0001c0025t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0025t0002 a0002c0002t0003 a0022c0022t0001 a0035c0077t0003 a0060c0061t0001	a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0002g0032 others(6): Show a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0002g0032 a0001c0001t0002g0082 a0001c0025t0002g0052 a0002c0002t0003g0024 a0022c0022t0001g0049 a0035c0077t0003g0101 a0060c0061t0001g0005	9	178	0.0506	25	c.428 others(44): Show c.4285+8413_4285+8437dupTCTTTTCTTTTCTTTTCTTTTCTTT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80558166	T T	TTCTTTTC others(18): Show TTCTTTTCTTTTCTTTTCTTTTCTTC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0009 a0002c0002t0003g0009	1	178	0.0056	25	c.428 others(44): Show c.4285+8437_4285+8438insTCTTTTCTTTTCTTTTCTTCTCTTT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRR_chr12_70633079_70925738	70821213	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02135.hp1 HG03491.hp2 HG00438.hp2 HG02135.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0047 a0001c0001t0001g0125 a0001c0001t0001g0126	3	204	0.0147	25	c.358 others(44): Show c.358-56460_358-56436dupAAAAAAAAAAAAAAAAAAAAAAAAA	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13			chr12	TogoVar
PTPRS_chr19_5200508_5345812	5228347	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG03471.hp1 others(1): Show HG02145.hp1 HG02486.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0015 a0001c0016 a0001c0017 a0001c0015 a0001c0016 a0001c0017	a0001c0015t0027 a0001c0016t0016 a0001c0017t0012 a0001c0015t0027 a0001c0016t0016 a0001c0017t0012	a0001c0015t0027g0032 a0001c0016t0016g0036 a0001c0016t0016g0040 others(1): Show a0001c0015t0027g0032 a0001c0016t0016g0036 a0001c0016t0016g0040 a0001c0017t0012g0145	4	276	0.0145	25	c.237 others(42): Show c.2376+968_2376+969insTTTTTTTTTTTTTTTTTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	16/37			chr19	TogoVar
PTPRS_chr19_5200508_5345812	5303958	A A	AAAAAAAA others(18): Show AAAAAAAAATAAAAAAAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0012 a0001c0058t0012	a0001c0058t0012g0015 a0001c0058t0012g0015	1	276	0.0036	25	c.-94 others(44): Show c.-94-17725_-94-17724insATTTTATTTTTTTTTTATTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	1/37			chr19	TogoVar
PTPRS_chr19_5200508_5345812	5345264	G G	GCGCGGTG others(18): Show GCGCGGTGGCCCACGTCTACCTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01109.hp2 others(25): Show HG00323.hp2 HG00741.hp2 HG01109.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02486.hp2 HG02622.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0006 others(17): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0019 a0001c0027 a0001c0035 a0001c0041 a0001c0054 a0001c0059 a0001c0063 a0001c0066 a0004c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0004t0010 a0001c0006t0007 a0001c0008t0006 a0001c0010t0007 a0001c0010t0011 a0001c0011t0034 a0001c0012t0001 a0001c0013t0014 a0001c0014t0001 a0001c0015t0021 a0001c0016t0016 a0001c0019t0011 a0001c0027t0003 a0001c0035t0044 a0001c0041t0029 a0001c0054t0016 a0001c0059t0001 a0001c0063t0001 a0001c0066t0018 a0004c0036t0005	a0001c0001t0001g0029 a0001c0001t0002g0038 a0001c0001t0024g0022 others(25): Show a0001c0001t0001g0029 a0001c0001t0002g0038 a0001c0001t0024g0022 a0001c0001t0024g0023 a0001c0004t0010g0030 a0001c0006t0007g0033 a0001c0008t0006g0024 a0001c0010t0007g0039 a0001c0010t0007g0041 a0001c0010t0011g0027 a0001c0011t0034g0020 a0001c0012t0001g0046 a0001c0013t0014g0028 a0001c0014t0001g0019 a0001c0015t0021g0025 a0001c0015t0021g0026 a0001c0016t0016g0031 a0001c0016t0016g0036 a0001c0016t0016g0040 a0001c0019t0011g0044 a0001c0027t0003g0010 a0001c0035t0044g0045 a0001c0041t0029g0021 a0001c0054t0016g0042 a0001c0059t0001g0034 a0001c0063t0001g0009 a0001c0066t0018g0037 a0004c0036t0005g0043	28	276	0.1015	25	c.-46 others(36): Show c.-4696_-4695insTGCTAGGTAGACGTGGGCCACCGCG	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding		4453		chr19	TogoVar
PTPRT_chr20_42067756_43194906	42086753	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0047 a0001c0003t0020g0047	1	62	0.0161	25	c.384 others(42): Show c.3847-901_3847-900insATATATATATATATATATATATTTT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42624005	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0047 a0001c0003t0020g0047	1	62	0.0161	25	c.115 others(46): Show c.1153+53860_1153+53861insTGTTTTTTTTTTTTTTTTTTTTTT T	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42633784	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0008	a0003c0006t0008g0054 a0003c0006t0008g0054	1	62	0.0161	25	c.115 others(46): Show c.1153+44081_1153+44082insATATATATATATATATATATATAT A	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42683271	T T	TTTTTGTT others(18): Show TTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG01257.hp1 others(7): Show HG00140.hp1 HG00438.hp1 HG01257.hp1 HG02109.hp2 HG03195.hp1 HG03540.hp2 NA19030.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0001c0021 a0001c0030 others(4): Show a0001c0007 a0001c0021 a0001c0030 a0002c0001 a0002c0009 a0002c0016 a0003c0006	a0001c0007t0004 a0001c0021t0001 a0001c0030t0001 others(6): Show a0001c0007t0004 a0001c0021t0001 a0001c0030t0001 a0002c0001t0002 a0002c0001t0010 a0002c0001t0026 a0002c0009t0001 a0002c0016t0030 a0003c0006t0008	a0001c0007t0004g0062 a0001c0021t0001g0053 a0001c0030t0001g0035 others(7): Show a0001c0007t0004g0062 a0001c0021t0001g0053 a0001c0030t0001g0035 a0002c0001t0002g0011 a0002c0001t0002g0015 a0002c0001t0010g0024 a0002c0001t0026g0012 a0002c0009t0001g0018 a0002c0016t0030g0014 a0003c0006t0008g0054	10	62	0.1613	25	c.860 others(42): Show c.860-5137_860-5113dupCAAAACAAAACAAAACAAAACAAAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	6/30			chr20	TogoVar
PUM1_chr1_30926506_31070717	30972269	A A	AAGGGGAG others(18): Show AAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18943.hp1 NA18979.hp1 others(2): Show HG01256.hp1 NA18943.hp1 NA18979.hp1 NA19074.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0014 a0001c0001t0002g0069 a0001c0001t0002g0140 others(2): Show a0001c0001t0002g0014 a0001c0001t0002g0069 a0001c0001t0002g0140 a0001c0001t0007g0037 a0001c0001t0007g0196	5	334	0.0150	25	c.150 others(44): Show c.1506+2381_1506+2382insCCCCTCCCCTCCCCTCCCCTCCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972274	A A	AAGGGGAG others(18): Show AAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	334	0.0030	25	c.150 others(44): Show c.1506+2376_1506+2377insCCCCTCCCCTCCCCTCCCCTCCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30999606	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0030 a0001c0002t0021g0030	1	334	0.0030	25	c.721 others(42): Show c.721-4411_721-4387dupTTTTTTTTTTTTTTTTTTTTTTTTT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	5/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	334	0.0030	25	c.364 others(44): Show c.364-10121_364-10120insATATATATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	334	0.0030	25	c.364 others(44): Show c.364-10121_364-10120insAAATATATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp2 HG02922.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0188 a0001c0001t0002g0182 a0001c0001t0001g0188 a0001c0001t0002g0182	2	334	0.0060	25	c.364 others(44): Show c.364-10121_364-10120insAAAAAAAAATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	334	0.0030	25	c.364 others(44): Show c.364-10121_364-10120insAAAAAAAAAAATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	334	0.0030	25	c.364 others(44): Show c.364-10121_364-10120insAAAAAAAAAAAAATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02056.hp1 HG02074.hp2 others(6): Show HG00639.hp1 HG02056.hp1 HG02074.hp2 HG02145.hp1 HG02300.hp2 HG02735.hp2 NA18994.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0001g0141 others(6): Show a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0252 a0001c0001t0003g0184 a0001c0001t0003g0208 a0001c0001t0011g0348	9	358	0.0251	25	c.195 others(44): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20303202	G G	GGCTTCTA others(18): Show GGCTTCTACTGCATCAGGCAGTGAGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01167.hp2 others(10): Show HG00642.hp2 HG00733.hp2 HG01167.hp2 HG01169.hp2 HG01516.hp1 HG01517.hp2 HG02280.hp1 HG02698.hp1 HG02896.hp1 HG02897.hp1 HG04184.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016	13	358	0.0363	25	c.883 others(42): Show c.883+4751_883+4775dupACTCACTGCCTGATGCAGTAGAAGC	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	7/20			chr2	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02683.hp2 HG01099.hp1 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0111 a0002c0002t0005g0115 a0002c0002t0005g0111 a0002c0002t0005g0115	2	306	0.0065	25	c.11 others(38): Show c.11568_*11569insATATATATATATTTTTTTTTTTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0183 a0001c0001t0044g0183	1	306	0.0033	25	c.11 others(38): Show c.11568_*11569insATATATATATATATATATTTTTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7_chr7_105451503_105527271	105455576	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03041.hp1 HG02723.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0080 a0001c0001t0001g0031 a0001c0001t0001g0080	2	350	0.0057	25	c.22 others(36): Show c.2213_*2214insATATATATATATATATATATATATA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		926		chr7	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0343 a0001c0001t0004g0343	1	350	0.0029	25	c.-32 others(40): Show c.-32-665_-32-641dupTTTTTTTTTTTTTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PWWP2B_chr10_132392200_132422859	132419620	G G	GGGGGGGC others(18): Show GGGGGGGCCTGGAGGAGGGGTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG02451.hp1 HG03225.hp2 HG00741.hp2 HG02451.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0111 a0001c0001t0001g0247 a0001c0001t0001g0058 a0001c0001t0001g0111 a0001c0001t0001g0247	3	374	0.0080	25	c.25 others(36): Show c.2576_*2577insGGGGGGCCTGGAGGAGGGGTCTCCT	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1762		chr10	TogoVar
PXDNL_chr8_51314577_51814445	51455115	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	122	0.0082	25	c.983 others(42): Show c.983-1331_983-1330insTTTTTTTTTTTTTTTTTTTTTTTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	9/22			chr8	TogoVar
PXMP2_chr12_132682587_132709985	132694095	C C	CAGTTAGT others(18): Show CAGTTAGTGAGCGCCCTTAGCCAGTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01070.hp1 HG01071.hp1 others(6): Show HG00544.hp2 HG01070.hp1 HG01071.hp1 HG01243.hp2 HG03490.hp1 HG03492.hp2 NA18977.hp1 NA18986.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0008 a0001c0003t0003 a0001c0003t0008	a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0149 others(4): Show a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0154 a0001c0003t0003g0169 a0001c0003t0008g0155	9	350	0.0257	25	c.237 others(42): Show c.237-1772_237-1771insAGCCAGTTAGTTAGTGAGCGCCCTT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYDC2_chr3_191456163_191466456	191463108	T T	TCCCTCCC others(18): Show TCCCTCCCTCCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	434	0.0023	25	c.16 others(36): Show c.1652_*1653insCCCTCCCTCCCTCCCTCCCTCCCTC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1653		chr3	TogoVar
PYGB_chr20_25243085_25303012	25286610	T T	TGCTGGGC others(18): Show TGCTGGGCCAAGGCCATGCTTCCCCA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	372	0.0027	25	c.176 others(44): Show c.1769-1812_1769-1788dupTGGGCCAAGGCCATGCTTCCCCAGC	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
PYY_chr17_43947733_43958940	43958135	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 NA18906.hp2 HG02280.hp1 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0005	2	364	0.0055	25	c.-42 others(36): Show c.-4287_-4286insTTTTTTTTTTTTTTTTTTTTTTTTT	PYY	ENSG00000131096.11	transcript	ENST00000692052.1	protein_coding		4196		chr17	TogoVar
PZP_chr12_9143840_9213395	9185790	A A	ATTTCTTT others(18): Show ATTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp2 others(57): Show HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02486.hp2 HG02698.hp2 HG02735.hp2 HG02818.hp2 HG02895.hp2 HG03017.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03834.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18990.hp1 NA19000.hp1 NA19006.hp1 NA19056.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0014 a0015 a0016 a0034 a0037	a0001c0038 a0001c0046 a0002c0002 others(15): Show a0001c0038 a0001c0046 a0002c0002 a0002c0065 a0003c0022 a0004c0004 a0005c0008 a0005c0019 a0006c0007 a0007c0005 a0008c0025 a0010c0009 a0011c0010 a0014c0015 a0015c0017 a0016c0016 a0034c0060 a0037c0064	a0001c0038t0001 a0001c0046t0001 a0002c0002t0001 others(15): Show a0001c0038t0001 a0001c0046t0001 a0002c0002t0001 a0002c0065t0001 a0003c0022t0001 a0004c0004t0001 a0005c0008t0001 a0005c0019t0001 a0006c0007t0001 a0007c0005t0001 a0008c0025t0001 a0010c0009t0001 a0011c0010t0001 a0014c0015t0001 a0015c0017t0001 a0016c0016t0001 a0034c0060t0001 a0037c0064t0001	a0001c0038t0001g0119 a0001c0046t0001g0050 a0002c0002t0001g0145 others(46): Show a0001c0038t0001g0119 a0001c0046t0001g0050 a0002c0002t0001g0145 a0002c0002t0001g0157 a0002c0002t0001g0172 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0065t0001g0138 a0003c0022t0001g0121 a0004c0004t0001g0004 a0004c0004t0001g0029 a0004c0004t0001g0030 a0004c0004t0001g0224 a0004c0004t0001g0275 a0005c0008t0001g0022 a0005c0008t0001g0023 a0005c0008t0001g0132 a0005c0008t0001g0173 a0005c0008t0001g0176 a0005c0008t0001g0177 a0005c0008t0001g0181 a0005c0008t0001g0182 a0005c0008t0001g0191 a0005c0008t0001g0216 a0005c0019t0001g0047 a0005c0019t0001g0174 a0005c0019t0001g0175 a0006c0007t0001g0118 a0007c0005t0001g0071 a0007c0005t0001g0122 a0007c0005t0001g0124 a0007c0005t0001g0250 a0007c0005t0001g0273 a0008c0025t0001g0249 a0010c0009t0001g0012 a0010c0009t0001g0223 a0010c0009t0001g0240 a0010c0009t0001g0244 a0010c0009t0001g0253 a0011c0010t0001g0021 a0014c0015t0001g0133 a0015c0017t0001g0026 a0016c0016t0001g0140 a0016c0016t0001g0155 a0034c0060t0001g0178 a0037c0064t0001g0171	60	334	0.1796	25	c.154 others(44): Show c.1547-3698_1547-3674dupAGAAAAGAAAAGAAAAGAAAAGAAA	PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	13/35			chr12	TogoVar
QRICH1_chr3_49024707_49099071	49050248	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01981.hp2 HG01261.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0083 a0001c0001t0001g0091	2	226	0.0089	25	c.133 others(44): Show c.1339-3027_1339-3003dupTTTTTTTTTTTTTTTTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	3/9			chr3	TogoVar
QRICH2_chr17_76269049_76313276	76299134	C C	CCTACCTT others(18): Show CCTACCTTCACCTGAATAAAATCAAG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	364	0.0028	25	c.706 others(42): Show c.706-5138_706-5114dupCTTGATTTTATTCAGGTGAAGGTAG	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	3/18			chr17	TogoVar
R3HDML_chr20_44332043_44356238	44348482	C C	CTCCTTTC others(18): Show CTCCTTTCCTTTCCTTTCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00733.hp2 others(2): Show HG00099.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0014 a0001c0002t0001g0173 a0001c0001t0001g0014 a0001c0002t0001g0173	5	434	0.0115	25	c.630 others(42): Show c.630-2165_630-2141dupCTTTCCTTTCCTTTCCTTTCCTTTC	R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB10_chr2_26029084_26142454	26114737	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	212	0.0047	25	c.327 others(42): Show c.327+4849_327+4850insAAAAAAAAAAAAAAAAAAAAAAAAA	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11FIP4_chr17_31386675_31543211	31448392	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	310	0.0032	25	c.336 others(44): Show c.336+14289_336+14290insTTTTTTTTTTTTTTTTTTTTTTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB11FIP4_chr17_31386675_31543211	31517186	C C	CGGTGCGG others(18): Show CGGTGCGGGGGGGGGGGGCGGTGGGG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0268 a0001c0001t0031g0268	1	310	0.0032	25	c.337 others(40): Show c.337-449_337-448insGCGGTGGGGGGTGCGGGGGGGGGGG	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB15_chr14_64940816_64977336	64973893	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01257.hp1 HG02300.hp1 others(4): Show HG01256.hp2 HG01257.hp1 HG02300.hp1 HG02970.hp1 NA18948.hp1 NA18964.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0021 a0001c0002t0007 a0001c0001t0006 a0001c0001t0021 a0001c0002t0007	a0001c0001t0006g0022 a0001c0001t0006g0046 a0001c0001t0006g0257 others(4): Show a0001c0001t0006g0022 a0001c0001t0006g0046 a0001c0001t0006g0257 a0001c0001t0006g0262 a0001c0001t0021g0189 a0001c0002t0007g0252 a0001c0002t0007g0253	7	382	0.0183	25	c.-18 others(36): Show c.-1818_-1817insTTTTTTTTTTTTTTTTTTTTTTTTT	RAB15	ENSG00000139998.16	transcript	ENST00000533601.7	protein_coding		1558		chr14	TogoVar
RAB18_chr10_27499304_27547239	27546498	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02258.hp1 NA18961.hp1 others(2): Show HG01975.hp1 HG02258.hp1 NA18961.hp1 NA18963.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0032 a0001c0001t0003 a0001c0001t0004 a0001c0001t0032	a0001c0001t0003g0001 a0001c0001t0003g0239 a0001c0001t0004g0034 others(1): Show a0001c0001t0003g0001 a0001c0001t0003g0239 a0001c0001t0004g0034 a0001c0001t0032g0196	5	410	0.0122	25	c.84 others(36): Show c.8447_*8448insTTTTTTTTTTTTTTTTTTTTTTTTT	RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding		4260		chr10	TogoVar
RAB1A_chr2_65081854_65135106	65103299	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18990.hp2 HG02970.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0096 a0001c0001t0001g0046 a0001c0001t0001g0096	2	340	0.0059	25	c.96+ others(40): Show c.96+1434_96+1435insTTTTTTTTTTTTTTTTTTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB2A_chr8_60511987_60628644	60585281	C C	CGTTTTGT others(18): Show CGTTTTGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp1 HG02809.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0330 a0001c0001t0004g0331	2	358	0.0056	25	c.362 others(40): Show c.362+466_362+467insGTTTTGTTTTGTTTTGTTTTGTTTT	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	5/7			chr8	TogoVar
RAB2A_chr8_60511987_60628644	60585282	T T	TTTTTGTT others(18): Show TTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0349 a0001c0001t0004g0349	1	358	0.0028	25	c.362 others(40): Show c.362+491_362+515dupTGTTTTGTTTTGTTTTGTTTTGTTT	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar

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