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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
PTPRD_chr9_8309246_10618002	9998127	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	34	0.0294	21	c.-47 others(42): Show c.-472+35590_-472+35591insATATATATATATATATATATA		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45						chr9	TogoVar
PTPRD_chr9_8309246_10618002	9998129	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0008 a0003c0008t0008	a0003c0008t0008g0003 a0003c0008t0008g0003	1	34	0.0294	21	c.-47 others(42): Show c.-472+35588_-472+35589insATATATATATATATATATATA		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45						chr9	TogoVar
PTPRD_chr9_8309246_10618002	10065187	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	34	0.0294	21	c.-54 others(42): Show c.-544-31398_-544-31397insTCTTTCTTTCTTTCTTTCTTT		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45						chr9	TogoVar
PTPRD_chr9_8309246_10618002	10182259	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG03579.hp1 HG02257.hp2 HG02559.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0022 a0001c0005t0001 a0001c0001t0002 a0001c0001t0022 a0001c0005t0001	a0001c0001t0002g0018 a0001c0001t0022g0012 a0001c0005t0001g0019 a0001c0001t0002g0018 a0001c0001t0022g0012 a0001c0005t0001g0019	3	34	0.0882	21	c.-54 others(44): Show c.-544-148470_-544-148469insTTTTTTTTTTTTTTTTTTTTT		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45						chr9	TogoVar
PTPRD_chr9_8309246_10618002	10504115	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA21309.hp2 HG03834.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0002c0009t0006 a0001c0001t0001 a0002c0009t0006	a0001c0001t0001g0004 a0002c0009t0006g0007 a0001c0001t0001g0004 a0002c0009t0006g0007	2	34	0.0588	21	c.-60 others(44): Show c.-600+108262_-600+108282dupTTTTTTTTTTTTTTTTTTTTT		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45						chr9	TogoVar
PTPRG_chr3_61556571_62302609	61676456	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	94	0.0106	21	c.86- others(38): Show c.86-72404_86-72403insAAAAAAAAAAAAAAAAAAAAA		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62026879	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02683.hp1 HG00099.hp2 HG02683.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0024 a0002c0002t0002g0092 a0001c0001t0003g0024 a0002c0002t0002g0092	2	94	0.0213	21	c.519 others(40): Show c.519+23397_519+23398insAAAAAAAAAAAAAAAAAAAAA		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	4/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62281538	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	94	0.0106	21	c.376 others(36): Show c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTT		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRJ_chr11_47975559_48175839	47980920	C C	CGGCGGCG others(14): Show CGGCGGCGCGGGAGGCGCGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01106.hp2 HG01106.hp2	a0012 a0012	a0012c0029 a0012c0029	a0012c0029t0052 a0012c0029t0052	a0012c0029t0052g0182 a0012c0029t0052g0182	1	216	0.0046	21	c.10_ others(26): Show c.10_30dupGCGGCGCGGGAGGCGCGGCTG	p.Ala others(10): Show p.Ala4_Leu10dup	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/25	385/7845	31/4014	11/1337		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRK_chr6_127963785_128525599	128214544	C C	CATTATTA others(14): Show CATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp1 HG03209.hp2 others(1): Show HG02257.hp1 HG02723.hp1 HG03209.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 a0001c0002t0001 a0001c0003t0002 a0001c0003t0004	a0001c0002t0001g0048 a0001c0003t0002g0032 a0001c0003t0004g0052 others(1): Show a0001c0002t0001g0048 a0001c0003t0002g0032 a0001c0003t0004g0052 a0001c0003t0004g0053	4	53	0.0755	21	c.868 others(38): Show c.868+4357_868+4377dupAATAATAATAATAATAATAAT		PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	6/29						chr6	TogoVar
PTPRN_chr2_219284623_219314401	219294490	A A	AAAAGACG others(14): Show AAAAGACGGAGAGGGATGAAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG06807.hp1 NA18906.hp2 HG02647.hp1 HG06807.hp1 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0018 a0002c0004t0002g0053 a0002c0004t0002g0018 a0002c0004t0002g0053	3	414	0.0073	21	c.267 others(38): Show c.2675+484_2675+485insCCTTCATCCCTCTCCGTCTTT		PTPRN	ENSG00000054356.14	transcript	ENST00000295718.7	protein_coding	19/22						chr2	TogoVar
PTPRN_chr2_219284623_219314401	219294493	A A	AGACGGAG others(14): Show AGACGGAGAGGGATGAAGGAGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00597.hp1 others(137): Show HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG01070.hp2 HG01106.hp1 HG01123.hp1 HG01192.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0008 a0001c0010 others(4): Show a0001c0001 a0001c0008 a0001c0010 a0001c0013 a0002c0004 a0004c0006 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0001c0010t0001 a0001c0013t0001 a0002c0004t0001 a0002c0004t0002 a0004c0006t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(52): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0002g0055 a0001c0001t0002g0148 a0001c0001t0002g0176 a0001c0008t0001g0067 a0001c0010t0001g0064 a0001c0013t0001g0124 a0002c0004t0001g0068 a0002c0004t0002g0018 a0002c0004t0002g0025 a0002c0004t0002g0054 a0002c0004t0002g0164 a0002c0004t0002g0166 a0002c0004t0002g0167 a0002c0004t0002g0168 a0002c0004t0002g0169 a0004c0006t0001g0036 a0006c0009t0001g0119	140	414	0.3382	21	c.267 others(38): Show c.2675+461_2675+481dupCCTCCTTCATCCCTCTCCGTC		PTPRN	ENSG00000054356.14	transcript	ENST00000295718.7	protein_coding	19/22						chr2	TogoVar
PTPRO_chr12_15317508_15603331	15448339	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19012.hp2 NA19056.hp2 HG04184.hp1 NA19012.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0126 a0001c0002t0001g0019 a0001c0002t0001g0087 a0001c0001t0001g0126 a0001c0002t0001g0019 a0001c0002t0001g0087	3	164	0.0183	21	c.76- others(38): Show c.76-35634_76-35614dupAAAAAAAAAAAAAAAAAAAAA		PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRR_chr12_70633079_70925738	70821213	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01261.hp1 HG01261.hp2 others(7): Show HG00735.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG02027.hp1 NA18941.hp2 NA18964.hp2 NA19065.hp1 NA19085.hp2 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0059 a0001c0001t0001g0113 a0001c0001t0001g0120 others(7): Show a0001c0001t0001g0059 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0001g0192 a0001c0001t0001g0201 a0002c0002t0001g0142 a0004c0005t0001g0166	10	204	0.0490	21	c.358 others(40): Show c.358-56456_358-56436dupAAAAAAAAAAAAAAAAAAAAA		PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13						chr12	TogoVar
PTPRT_chr20_42067756_43194906	42086751	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0025 a0002c0001t0025	a0002c0001t0025g0002 a0002c0001t0025g0002	1	62	0.0161	21	c.384 others(38): Show c.3847-899_3847-898insATATATATATATATATATATA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30						chr20	TogoVar
PTPRT_chr20_42067756_43194906	42184535	C C	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03017.hp1 HG02155.hp1 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0003 a0002c0005t0012 a0001c0003t0003 a0002c0005t0012	a0001c0003t0003g0033 a0002c0005t0012g0010 a0001c0003t0003g0033 a0002c0005t0012g0010	2	62	0.0323	21	c.249 others(42): Show c.2491+14704_2491+14705insAGAAGAAGAAGAAGAAGAAGA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	16/30						chr20	TogoVar
PTPRT_chr20_42067756_43194906	42184541	C C	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01261.hp1 others(1): Show HG00738.hp1 HG00741.hp2 HG01261.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0014 a0001c0002t0022 a0002c0004t0002 others(1): Show a0001c0002t0014 a0001c0002t0022 a0002c0004t0002 a0002c0004t0010	a0001c0002t0014g0052 a0001c0002t0022g0055 a0002c0004t0002g0001 others(1): Show a0001c0002t0014g0052 a0001c0002t0022g0055 a0002c0004t0002g0001 a0002c0004t0010g0027	4	62	0.0645	21	c.249 others(42): Show c.2491+14698_2491+14699insAGAAGAAGAAGAAGAAGAAGA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	16/30						chr20	TogoVar
PTPRT_chr20_42067756_43194906	42648820	G G	GTTGTTTT others(14): Show GTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03195.hp1 HG02896.hp2 HG02897.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0001 a0001c0007 a0002c0001	a0001c0007t0004 a0002c0001t0011 a0001c0007t0004 a0002c0001t0011	a0001c0007t0004g0062 a0002c0001t0011g0019 a0002c0001t0011g0020 a0001c0007t0004g0062 a0002c0001t0011g0019 a0002c0001t0011g0020	3	62	0.0484	21	c.115 others(42): Show c.1153+29045_1153+29046insAAAAAAAAAAAAAAAAAACAA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30						chr20	TogoVar
PTPRU_chr1_29231522_29331800	29277803	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02055.hp2 HG03579.hp1 others(1): Show HG01071.hp1 HG02055.hp2 HG03579.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0158 a0001c0003t0001g0161 a0002c0002t0001g0159 others(1): Show a0001c0003t0001g0158 a0001c0003t0001g0161 a0002c0002t0001g0159 a0002c0002t0001g0163	4	296	0.0135	21	c.145 others(40): Show c.1454-1196_1454-1176dupTTTTTTTTTTTTTTTTTTTTT		PTPRU	ENSG00000060656.20	transcript	ENST00000373779.8	protein_coding	8/29					INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPRZ1_chr7_121868161_122067036	122023558	T T	TGTATAAT others(14): Show TGTATAATTTTATATATAATTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02055.hp1 others(8): Show HG01069.hp2 HG01071.hp2 HG02055.hp1 HG02109.hp2 HG02486.hp2 HG02630.hp1 HG03225.hp2 HG03486.hp2 NA18522.hp2 NA19240.hp2 NA20129.hp1	a0004 a0007 a0004 a0007	a0004c0005 a0004c0013 a0007c0034 a0004c0005 a0004c0013 a0007c0034	a0004c0005t0001 a0004c0005t0002 a0004c0005t0005 others(2): Show a0004c0005t0001 a0004c0005t0002 a0004c0005t0005 a0004c0013t0001 a0007c0034t0006	a0004c0005t0001g0260 a0004c0005t0001g0262 a0004c0005t0001g0263 others(8): Show a0004c0005t0001g0260 a0004c0005t0001g0262 a0004c0005t0001g0263 a0004c0005t0001g0265 a0004c0005t0002g0041 a0004c0005t0002g0043 a0004c0005t0002g0117 a0004c0005t0002g0118 a0004c0005t0005g0013 a0004c0013t0001g0261 a0007c0034t0006g0214	11	312	0.0353	21	c.498 others(40): Show c.4988+4290_4988+4291insGTATAATTTTATATATAATTA		PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	13/29						chr7	TogoVar
PTRH1_chr9_127708807_127720663	127719798	C C	CAGCTATC others(14): Show CAGCTATCTGAGTTTTCTACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	348	0.0029	21	c.-41 others(32): Show c.-4180_-4160dupATGTAGAAAACTCAGATAGCT		PTRH1	ENSG00000187024.15	transcript	ENST00000543175.5	protein_coding					4136		chr9	TogoVar
PTTG1IP2_chr7_90464639_90518397	90497744	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	384	0.0026	21	c.50 others(38): Show c.50+3314_*50+3315insAAAAAAAAAAAAAAAAAAAAG		PTTG1IP2	ENSG00000251154.2	transcript	ENST00000509356.2	protein_coding	6/6						chr7	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	334	0.0060	21	c.364 others(40): Show c.364-10121_364-10120insAAATATATATATATATATATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp2 HG02559.hp1 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0015 a0001c0002t0001 a0001c0002t0015	a0001c0002t0001g0011 a0001c0002t0015g0027 a0001c0002t0001g0011 a0001c0002t0015g0027	2	334	0.0060	21	c.364 others(40): Show c.364-10121_364-10120insAAAAATATATATATATATATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	334	0.0030	21	c.364 others(40): Show c.364-10121_364-10120insAAAAAAATATATATATATATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG00639.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0044 a0001c0001t0007g0078 a0001c0001t0007g0044 a0001c0001t0007g0078	2	334	0.0060	21	c.364 others(40): Show c.364-10121_364-10120insAAAAAAAAATATATATATATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18970.hp1 NA18980.hp1 others(2): Show HG03704.hp1 NA18970.hp1 NA18980.hp1 NA18998.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0117 a0001c0001t0005g0127 a0001c0001t0005g0175 others(2): Show a0001c0001t0005g0117 a0001c0001t0005g0127 a0001c0001t0005g0175 a0001c0001t0005g0263 a0001c0001t0008g0116	5	334	0.0150	21	c.364 others(40): Show c.364-10121_364-10120insAAAAAAAAAAAAATATATATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02129.hp1 HG02165.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0173 a0001c0001t0005g0058 a0001c0001t0005g0126 a0001c0001t0002g0173 a0001c0001t0005g0058 a0001c0001t0005g0126	3	334	0.0090	21	c.364 others(40): Show c.364-10121_364-10120insAAAAAAAAAAAAAAATATATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0122 a0001c0001t0012g0122	1	334	0.0030	21	c.364 others(40): Show c.364-10121_364-10120insAAAAAAAAAAAAAAAAATATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	358	0.0028	21	c.195 others(38): Show c.1958-908_1958-907insATATATATATATATATATATA		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20						chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG01109.hp1 others(14): Show HG00408.hp1 HG00642.hp1 HG01109.hp1 HG01496.hp1 HG02071.hp2 HG02257.hp1 HG02895.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03491.hp1 NA18522.hp1 NA19010.hp1 NA19062.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0094 a0001c0001t0001g0138 a0001c0001t0001g0214 others(14): Show a0001c0001t0001g0094 a0001c0001t0001g0138 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0003g0198 a0001c0001t0008g0229 a0001c0001t0008g0262 a0001c0001t0009g0158 a0001c0001t0015g0230 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0328	17	358	0.0475	21	c.195 others(40): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTT		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20						chr2	TogoVar
PUM3_chr9_2799152_2849095	2821443	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01168.hp2 HG01169.hp2 others(10): Show HG01074.hp2 HG01168.hp2 HG01169.hp2 HG02056.hp1 HG02109.hp2 HG02273.hp1 HG02572.hp1 HG03710.hp2 NA18941.hp1 NA18979.hp1 NA19060.hp2 NA19070.hp2 NA19091.hp2	a0003 a0007 a0003 a0007	a0003c0004 a0007c0012 a0003c0004 a0007c0012	a0003c0004t0001 a0007c0012t0001 a0003c0004t0001 a0007c0012t0001	a0003c0004t0001g0029 a0003c0004t0001g0032 a0003c0004t0001g0161 others(8): Show a0003c0004t0001g0029 a0003c0004t0001g0032 a0003c0004t0001g0161 a0003c0004t0001g0162 a0003c0004t0001g0163 a0003c0004t0001g0169 a0003c0004t0001g0170 a0003c0004t0001g0171 a0003c0004t0001g0173 a0007c0012t0001g0088 a0007c0012t0001g0167	13	420	0.0310	21	c.118 others(40): Show c.1189-1346_1189-1345insTTTTTTTTTTTTTTTTTTTTT		PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	12/17						chr9	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0172 a0002c0002t0003g0172	1	306	0.0033	21	c.11 others(34): Show c.11568_*11569insATATATATATATATATATTTT		PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding					184		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0176 a0002c0002t0003g0176	1	306	0.0033	21	c.11 others(34): Show c.11568_*11569insATATATATATATATATATATT		PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding					184		chr12	TogoVar
PUS7_chr7_105451503_105527271	105505003	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02683.hp2 HG03710.hp1 others(2): Show HG02109.hp1 HG02683.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0314 others(2): Show a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0016g0311	5	350	0.0143	21	c.585 others(36): Show c.585+951_585+952insAAAAAAAAAAAAAAAAAAAAA		PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	4/15						chr7	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0063 a0001c0001t0011g0063	1	350	0.0029	21	c.-32 others(36): Show c.-32-661_-32-641dupTTTTTTTTTTTTTTTTTTTTT		PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15						chr7	TogoVar
PVALB_chr22_36795703_36822035	36821788	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	421	0.0024	21	c.-47 others(32): Show c.-4784_-4783insAAAAAAAAAAAAAAAAAAAAA		PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding					4754		chr22	TogoVar
PWWP2A_chr5_160086339_160124450	160109772	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	384	0.0026	21	c.584 others(38): Show c.584+9032_584+9033insATATATATATATATATATATA		PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1						chr5	TogoVar
PXDNL_chr8_51314577_51814445	51675711	C C	CAAACCCG others(14): Show CAAACCCGGGAGGCAGAGGTTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02818.hp1 others(3): Show HG02257.hp1 HG02451.hp2 HG02818.hp1 HG02922.hp1 HG03130.hp2 HG03209.hp1	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0019	a0001c0001 a0002c0002 a0011c0017 others(1): Show a0001c0001 a0002c0002 a0011c0017 a0019c0047	a0001c0001t0001 a0002c0002t0001 a0011c0017t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0011c0017t0001 a0019c0047t0001	a0001c0001t0001g0072 a0002c0002t0001g0028 a0002c0002t0001g0071 others(3): Show a0001c0001t0001g0072 a0002c0002t0001g0028 a0002c0002t0001g0071 a0002c0002t0001g0073 a0011c0017t0001g0075 a0019c0047t0001g0074	6	122	0.0492	21	c.165 others(40): Show c.165-20972_165-20952dupCAACCTCTGCCTCCCGGGTTT		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22						chr8	TogoVar
PXDN_chr2_1626887_1749515	1688829	A A	ATAATTAT others(14): Show ATAATTATAATATTTATATTAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02004.hp1 HG02273.hp1 others(3): Show HG01928.hp2 HG02004.hp1 HG02273.hp1 HG02280.hp2 HG02602.hp1 HG04115.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0036 a0008c0025 a0001c0001 a0005c0036 a0008c0025	a0001c0001t0001 a0005c0036t0003 a0008c0025t0020 a0001c0001t0001 a0005c0036t0003 a0008c0025t0020	a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0168 others(3): Show a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0179 a0005c0036t0003g0036 a0008c0025t0020g0172	6	322	0.0186	21	c.345 others(38): Show c.345-1127_345-1126insATAATATAAATATTATAATTA		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	3/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1702974	A A	ACAACTCC others(14): Show ACAACTCCAGATGAAGGGTGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG01993.hp1 others(13): Show HG01109.hp1 HG01891.hp1 HG01993.hp1 HG02451.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0012 a0001c0014 a0001c0039 a0002c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0002t0003 a0001c0004t0004 a0001c0006t0004 a0001c0006t0013 a0001c0012t0017 a0001c0014t0013 a0001c0039t0006 a0002c0009t0011	a0001c0001t0002g0211 a0001c0001t0004g0302 a0001c0001t0009g0039 others(13): Show a0001c0001t0002g0211 a0001c0001t0004g0302 a0001c0001t0009g0039 a0001c0001t0010g0165 a0001c0001t0010g0166 a0001c0001t0010g0208 a0001c0002t0003g0131 a0001c0004t0004g0209 a0001c0004t0004g0312 a0001c0006t0004g0286 a0001c0006t0013g0310 a0001c0012t0017g0167 a0001c0014t0013g0145 a0001c0014t0013g0248 a0001c0039t0006g0045 a0002c0009t0011g0081	16	322	0.0497	21	c.201 others(38): Show c.201-9841_201-9840insCCCACCCTTCATCTGGAGTTG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1703465	A A	ACAACTCC others(14): Show ACAACTCCAGGTGAAGGGGGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	322	0.0031	21	c.201 others(40): Show c.201-10352_201-10332dupCCCCCCCTTCACCTGGAGTTG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1703818	G G	GGGGGGGG others(14): Show GGGGGGGGCAACTCCAGGTGAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0320 a0001c0001t0022g0320	1	322	0.0031	21	c.201 others(40): Show c.201-10685_201-10684insTTCACCTGGAGTTGCCCCCCC		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1703848	G G	GCTCCAGG others(14): Show GCTCCAGGTGAAGGGAGGGCAA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0102 a0001c0002t0003g0102	1	322	0.0031	21	c.201 others(40): Show c.201-10715_201-10714insTTGCCCTCCCTTCACCTGGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1704631	A A	ACTCCAGG others(14): Show ACTCCAGGTGAAGGGGGGGCAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00609.hp2 others(30): Show HG00438.hp2 HG00544.hp1 HG00609.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02165.hp2 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18955.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18991.hp2 NA19005.hp2 NA19007.hp1 NA19062.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19084.hp1 NA19087.hp2	a0001 a0010 a0011 others(1): Show a0001 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0008 others(5): Show a0001c0001 a0001c0002 a0001c0008 a0001c0015 a0001c0035 a0010c0031 a0011c0027 a0012c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0003 a0001c0008t0002 a0001c0015t0003 a0001c0035t0003 a0010c0031t0002 a0011c0027t0002 a0012c0038t0001	a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0226 others(30): Show a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0266 a0001c0001t0002g0277 a0001c0001t0012g0272 a0001c0001t0012g0278 a0001c0002t0003g0098 a0001c0002t0003g0100 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0239 a0001c0008t0002g0202 a0001c0008t0002g0273 a0001c0008t0002g0276 a0001c0008t0002g0319 a0001c0015t0003g0118 a0001c0035t0003g0099 a0010c0031t0002g0120 a0011c0027t0002g0129 a0012c0038t0001g0238	33	322	0.1025	21	c.201 others(40): Show c.201-11518_201-11498dupCTGCCCCCCCTTCACCTGGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1719911	A A	AGGGATGC others(14): Show AGGGATGCAGAGAGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01981.hp2 HG02148.hp1 others(2): Show HG01928.hp1 HG01981.hp2 HG02148.hp1 NA18980.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0002g0177 others(2): Show a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0002g0177 a0001c0001t0005g0175 a0001c0001t0009g0178	5	322	0.0155	21	c.200 others(40): Show c.200+24344_200+24345insCTCCCTCTCTCTCTGCATCCC		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXK_chr3_58327892_58431127	58336071	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0053 a0003c0003t0002g0053	1	300	0.0033	21	c.102 others(38): Show c.102+2982_102+2983insATATATATATATATATATATT		PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58336071	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0044 a0001c0001t0007g0044	1	300	0.0033	21	c.102 others(38): Show c.102+2982_102+2983insATATATATATATATATATTTT		PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
PXMP4_chr20_33697758_33725310	33717639	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0127 a0001c0001t0007g0127	1	388	0.0026	21	c.113 others(38): Show c.113+2455_113+2456insTTTTTTTTTTTTTTTTTTTTT		PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding	1/3						chr20	TogoVar
PYDC2_chr3_191456163_191466456	191463018	T T	TCTCTCTC others(14): Show TCTCTCTCTTCTCTCTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	434	0.0023	21	c.15 others(32): Show c.1562_*1563insCTCTCTCTTCTCTCTTCTTTC		PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding					1563		chr3	TogoVar

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