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 per page.

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
PRKN_chr6_161342417_162732766	161368287	T T	TTATATAT others(27): Show TTATATATATTTGTGTATATATTTATATATATTTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG02258.hp1 others(5): Show HG01361.hp1 HG01361.hp2 HG02258.hp1 HG02647.hp1 HG02897.hp2 HG03195.hp2 HG03209.hp2 HG03516.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0007 a0004c0009	a0001c0001t0001 a0001c0001t0014 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0014 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001 a0002c0007t0013 a0004c0009t0011	a0001c0001t0001g0030 a0001c0001t0014g0012 a0001c0003t0001g0032 others(5): Show a0001c0001t0001g0030 a0001c0001t0014g0012 a0001c0003t0001g0032 a0001c0004t0001g0001 a0001c0004t0001g0006 a0002c0002t0001g0016 a0002c0007t0013g0018 a0004c0009t0011g0031	8	32	0.2500	34	c.116 others(53): Show c.1168-8083_1168-8082insCAAATATATATAAATATATACACAAA TATATATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	10/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161874287	T T	TAATATAT others(27): Show TAATATATATTACATGTAAAATATTATATATAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03516.hp2 HG02647.hp2 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0007 a0004c0009t0011 a0001c0001t0007 a0004c0009t0011	a0001c0001t0007g0020 a0004c0009t0011g0031 a0001c0001t0007g0020 a0004c0009t0011g0031	2	32	0.0625	34	c.735 others(53): Show c.735-88380_735-88379insTTTTATATATAATATTTTACATGTAA TATATATT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161874432	A A	AATATTAT others(27): Show AATATTATATATAAAATATATATTATATGTAAAAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03041.hp1 HG03195.hp2 HG02897.hp2 HG03041.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0007 a0001c0001 a0001c0004 a0002c0007	a0001c0001t0008 a0001c0004t0001 a0002c0007t0013 a0001c0001t0008 a0001c0004t0001 a0002c0007t0013	a0001c0001t0008g0010 a0001c0004t0001g0001 a0002c0007t0013g0018 a0001c0001t0008g0010 a0001c0004t0001g0001 a0002c0007t0013g0018	3	32	0.0938	34	c.735 others(53): Show c.735-88558_735-88525dupATTTTACATATAATATATATTTTATA TATAATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161874820	A A	AATATATA others(27): Show AATATATAAAATGTATAATATATAAAATATATATG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03516.hp1 HG03195.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0008 a0003c0005 a0001c0008 a0003c0005	a0001c0008t0010 a0003c0005t0001 a0001c0008t0010 a0003c0005t0001	a0001c0008t0010g0014 a0003c0005t0001g0015 a0001c0008t0010g0014 a0003c0005t0001g0015	2	32	0.0625	34	c.735 others(53): Show c.735-88913_735-88912insCATATATATTTTATATATTATACATT TTATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162010537	A A	AATATAAT others(27): Show AATATAATATAATATAATATTATATAATATTATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0011 a0004c0009t0011	a0004c0009t0011g0031 a0004c0009t0011g0031	1	32	0.0313	34	c.619 others(53): Show c.619-37121_619-37120insATATAATATTATATAATATTATATTA TATTATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162359079	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	32	0.0313	34	c.171 others(53): Show c.171+84230_171+84231insATATATATATATTTTTTTTTTTTTTT TTTTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRLR_chr5_35050702_35235487	35074504	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	214	0.0047	34	c.374 others(51): Show c.374-1761_374-1760insATATATATATATATATATATATATATAT ATATAT	PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	5/9			chr5	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0208 a0001c0002t0011g0208	1	364	0.0028	34	c.75+ others(49): Show c.75+4515_75+4516insATATATATATATATATATATATATATATAT TTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	364	0.0028	34	c.75+ others(49): Show c.75+4515_75+4516insATATATATATATATATATATATATATTTTT TTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PROB1_chr5_139385592_139400104	139396668	G G	GCCCCCCC others(27): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	348	0.0029	34	c.-15 others(45): Show c.-1588_-1587insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	PROB1	ENSG00000228672.4	transcript	ENST00000434752.4	protein_coding		1565		chr5	TogoVar
PRODH_chr22_18907781_18941293	18911327	G G	GGCTCAGA others(27): Show GGCTCAGATTCCGAGTGGCCCTGCTGGGGGCAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(386): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(45): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0032 a0033 a0035 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054	a0001c0001 a0001c0006 a0001c0009 others(82): Show a0001c0001 a0001c0006 a0001c0009 a0001c0021 a0001c0033 a0001c0052 a0001c0062 a0001c0064 a0001c0066 a0002c0002 a0002c0014 a0002c0041 a0002c0081 a0002c0082 a0003c0003 a0003c0026 a0003c0076 a0004c0004 a0004c0015 a0004c0016 a0004c0044 a0004c0089 a0004c0092 a0004c0094 a0005c0008 a0005c0020 a0006c0007 a0006c0070 a0006c0071 a0007c0010 a0007c0039 a0008c0013 a0008c0037 a0008c0038 a0009c0012 a0009c0040 a0011c0017 a0011c0045 a0012c0018 a0012c0029 a0013c0019 a0013c0031 a0014c0011 a0015c0023 a0015c0058 a0015c0060 a0017c0022 a0018c0027 a0019c0069 a0019c0073 a0019c0074 a0020c0025 a0021c0090 a0021c0091 a0021c0093 a0022c0024 a0023c0032 a0023c0063 a0024c0028 a0025c0030 a0026c0035 a0027c0036 a0028c0034 a0029c0046 a0030c0072 a0032c0077 a0033c0078 a0035c0080 a0037c0087 a0038c0085 a0039c0086 a0040c0088 a0041c0050 a0042c0051 a0043c0061 a0044c0054 a0045c0053 a0047c0057 a0048c0059 a0049c0065 a0050c0067 a0051c0068 a0052c0049 a0053c0048 a0054c0047	a0001c0001t0001 a0001c0006t0001 a0001c0009t0001 others(86): Show a0001c0001t0001 a0001c0006t0001 a0001c0009t0001 a0001c0021t0001 a0001c0033t0001 a0001c0052t0001 a0001c0062t0001 a0001c0064t0001 a0001c0066t0001 a0002c0002t0001 a0002c0014t0001 a0002c0041t0001 a0002c0081t0001 a0002c0082t0001 a0003c0003t0001 a0003c0026t0001 a0003c0076t0001 a0004c0004t0001 a0004c0004t0003 a0004c0015t0001 a0004c0016t0001 a0004c0044t0001 a0004c0089t0001 a0004c0092t0001 a0004c0094t0001 a0005c0008t0001 a0005c0020t0001 a0006c0007t0001 a0006c0070t0001 a0006c0071t0001 a0007c0010t0001 a0007c0039t0001 a0008c0013t0001 a0008c0013t0006 a0008c0037t0001 a0008c0038t0001 a0009c0012t0002 a0009c0040t0002 a0011c0017t0001 a0011c0045t0001 a0012c0018t0001 a0012c0029t0001 a0013c0019t0001 a0013c0031t0001 a0014c0011t0001 a0015c0023t0002 a0015c0058t0001 a0015c0060t0002 a0017c0022t0001 a0017c0022t0004 a0017c0022t0005 a0018c0027t0001 a0019c0069t0001 a0019c0073t0001 a0019c0074t0001 a0020c0025t0001 a0021c0090t0002 a0021c0091t0002 a0021c0093t0002 a0022c0024t0001 a0023c0032t0001 a0023c0063t0001 a0024c0028t0001 a0025c0030t0001 a0026c0035t0001 a0027c0036t0001 a0028c0034t0001 a0029c0046t0001 a0030c0072t0001 a0032c0077t0001 a0033c0078t0001 a0035c0080t0001 a0037c0087t0001 a0038c0085t0001 a0039c0086t0002 a0040c0088t0001 a0041c0050t0001 a0042c0051t0001 a0043c0061t0001 a0044c0054t0001 a0045c0053t0001 a0047c0057t0001 a0048c0059t0001 a0049c0065t0001 a0050c0067t0007 a0051c0068t0001 a0052c0049t0001 a0053c0048t0009 a0054c0047t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(272): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0006t0001g0020 a0001c0006t0001g0026 a0001c0006t0001g0027 a0001c0006t0001g0071 a0001c0006t0001g0165 a0001c0009t0001g0004 a0001c0021t0001g0063 a0001c0021t0001g0129 a0001c0021t0001g0144 a0001c0021t0001g0193 a0001c0033t0001g0142 a0001c0033t0001g0183 a0001c0052t0001g0141 a0001c0062t0001g0115 a0001c0064t0001g0118 a0001c0066t0001g0173 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0218 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0236 a0002c0014t0001g0016 a0002c0014t0001g0213 a0002c0014t0001g0228 a0002c0041t0001g0217 a0002c0041t0001g0222 a0002c0081t0001g0219 a0002c0082t0001g0208 a0003c0003t0001g0005 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0200 a0003c0003t0001g0202 a0003c0003t0001g0210 a0003c0003t0001g0231 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0248 a0003c0003t0001g0251 a0003c0003t0001g0254 a0003c0003t0001g0258 a0003c0026t0001g0040 a0003c0026t0001g0203 a0003c0076t0001g0260 a0004c0004t0001g0053 a0004c0004t0001g0054 a0004c0004t0001g0281 a0004c0004t0001g0283 a0004c0004t0003g0052 a0004c0004t0003g0280 a0004c0015t0001g0049 a0004c0015t0001g0261 a0004c0015t0001g0269 a0004c0015t0001g0284 a0004c0016t0001g0012 a0004c0016t0001g0268 a0004c0044t0001g0262 a0004c0044t0001g0282 a0004c0089t0001g0270 a0004c0092t0001g0264 a0004c0094t0001g0267 a0005c0008t0001g0070 a0005c0008t0001g0072 a0005c0008t0001g0078 a0005c0008t0001g0079 a0005c0008t0001g0087 a0005c0008t0001g0088 a0005c0008t0001g0090 a0005c0020t0001g0015 a0005c0020t0001g0159 a0006c0007t0001g0017 a0006c0007t0001g0045 a0006c0007t0001g0237 a0006c0007t0001g0242 a0006c0007t0001g0243 a0006c0070t0001g0240 a0006c0071t0001g0241 a0007c0010t0001g0008 a0007c0010t0001g0198 a0007c0039t0001g0039 a0008c0013t0001g0033 a0008c0013t0001g0162 a0008c0013t0001g0163 a0008c0013t0006g0135 a0008c0037t0001g0062 a0008c0037t0001g0067 a0008c0038t0001g0074 a0008c0038t0001g0075 a0009c0012t0002g0252 a0009c0012t0002g0253 a0009c0012t0002g0255 a0009c0012t0002g0256 a0009c0012t0002g0257 a0009c0012t0002g0259 a0009c0040t0002g0204 a0009c0040t0002g0205 a0011c0017t0001g0050 a0011c0017t0001g0051 a0011c0017t0001g0278 a0011c0045t0001g0275 a0011c0045t0001g0276 a0012c0018t0001g0168 a0012c0018t0001g0174 a0012c0018t0001g0175 a0012c0018t0001g0188 a0012c0029t0001g0122 a0012c0029t0001g0197 a0013c0019t0001g0069 a0013c0019t0001g0083 a0013c0019t0001g0084 a0013c0019t0001g0085 a0013c0031t0001g0080 a0013c0031t0001g0091 a0014c0011t0001g0036 a0014c0011t0001g0170 a0014c0011t0001g0172 a0014c0011t0001g0179 a0014c0011t0001g0190 a0015c0023t0002g0076 a0015c0023t0002g0096 a0015c0023t0002g0110 a0015c0058t0001g0139 a0015c0060t0002g0058 a0017c0022t0001g0048 a0017c0022t0004g0274 a0017c0022t0005g0273 a0018c0027t0001g0285 a0018c0027t0001g0286 a0018c0027t0001g0287 a0019c0069t0001g0244 a0019c0073t0001g0239 a0019c0074t0001g0238 a0020c0025t0001g0038 a0020c0025t0001g0199 a0021c0090t0002g0271 a0021c0091t0002g0277 a0021c0093t0002g0265 a0022c0024t0001g0093 a0022c0024t0001g0113 a0022c0024t0001g0133 a0023c0032t0001g0138 a0023c0032t0001g0140 a0023c0063t0001g0116 a0024c0028t0001g0018 a0025c0030t0001g0081 a0025c0030t0001g0082 a0026c0035t0001g0028 a0027c0036t0001g0185 a0027c0036t0001g0194 a0028c0034t0001g0061 a0028c0034t0001g0064 a0029c0046t0001g0055 a0030c0072t0001g0245 a0032c0077t0001g0250 a0033c0078t0001g0207 a0035c0080t0001g0221 a0037c0087t0001g0263 a0038c0085t0001g0272 a0039c0086t0002g0266 a0040c0088t0001g0279 a0041c0050t0001g0158 a0042c0051t0001g0086 a0043c0061t0001g0114 a0044c0054t0001g0178 a0045c0053t0001g0171 a0047c0057t0001g0066 a0048c0059t0001g0130 a0049c0065t0001g0145 a0050c0067t0007g0151 a0051c0068t0001g0148 a0052c0049t0001g0169 a0053c0048t0009g0288 a0054c0047t0001g0056	389	409	0.9511	34	c.18 others(45): Show c.1847_*1848insTTCTGCCCCCAGCAGGGCCACTCGGAATCTGAGC	PRODH	ENSG00000100033.17	transcript	ENST00000357068.11	protein_coding		1453		chr22	TogoVar
PROP1_chr5_177987235_178001242	177988883	A A	ATATATAT others(27): Show ATATATATATACATCTGTATATATATACACATCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02970.hp2 HG02615.hp2 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0010 a0002c0003t0003 a0001c0001t0010 a0002c0003t0003	a0001c0001t0010g0047 a0002c0003t0003g0023 a0001c0001t0010g0047 a0002c0003t0003g0023	2	436	0.0046	34	c.38 others(45): Show c.3825_*3826insCAGATGTGTATATATATACAGATGTATATATATA	PROP1	ENSG00000175325.2	transcript	ENST00000308304.2	protein_coding		3351		chr5	TogoVar
PROSER2_chr10_11818356_11877277	11842931	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp2 NA19085.hp2 HG01993.hp1 HG01993.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0068 a0001c0001t0001g0114 a0001c0001t0001g0115	3	348	0.0086	34	c.-81 others(51): Show c.-81-9039_-81-9038insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRPF38B_chr1_108687310_108707928	108689608	T T	TAACATTA others(27): Show TAACATTATATATATATATATATATATATAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 NA18994.hp1 HG01496.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	362	0.0055	34	c.-29 others(45): Show c.-2984_-2983insAACATTATATATATATATATATATATATAATGTG	PRPF38B	ENSG00000134186.12	transcript	ENST00000370025.9	protein_coding		2701		chr1	TogoVar
PRPF38B_chr1_108687310_108707928	108689976	A A	ATACAAAT others(27): Show ATACAAATGTAATCACTTATCATGACCTACATGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	362	0.0028	34	c.-26 others(45): Show c.-2616_-2615insTACAAATGTAATCACTTATCATGACCTACATGGC	PRPF38B	ENSG00000134186.12	transcript	ENST00000370025.9	protein_coding		2333		chr1	TogoVar
PRPF3_chr1_150316533_150358233	150345951	T T	TTGCCACT others(27): Show TTGCCACTCCATTCAGGCAGCTGCTGATGCTAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0149 a0002c0005t0001g0149	1	362	0.0028	34	c.164 others(49): Show c.1641-64_1641-31dupCCACTCCATTCAGGCAGCTGCTGATGCTAA AATG	PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	392	0.0026	34	c.582 others(49): Show c.582-989_582-988insATATATATATATATATATATATATATATAT ATAT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPS1L1_chr7_18021770_18032846	18030627	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	462	0.0022	34	c.-28 others(45): Show c.-2846_-2845insATATATATATATATATATATATATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2782	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS1L1_chr7_18021770_18032846	18030651	T T	TATATATA others(27): Show TATATATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03195.hp1 HG02922.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	462	0.0043	34	c.-28 others(45): Show c.-2870_-2869insGTGTGTGTGTATATATATATATATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2806	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS1L1_chr7_18021770_18032846	18030651	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 NA20129.hp1 HG02717.hp1 NA20129.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	2	462	0.0043	34	c.-28 others(45): Show c.-2870_-2869insGTGTATATATATATATATATATATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2806	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS1L1_chr7_18021770_18032846	18030651	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp2 NA18977.hp1 others(2): Show NA18949.hp1 NA18949.hp2 NA18977.hp1 NA18977.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	462	0.0108	34	c.-28 others(45): Show c.-2870_-2869insGTATATATATATATATATATATATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2806	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPSAP2_chr17_18853131_18936287	18892727	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTTTATTTATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	392	0.0026	34	c.584 others(51): Show c.584+2851_584+2852insGTGTGTGTGTGTGTGTGTGTGTGTTTAT TTATTT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	444	0.0023	34	c.649 others(51): Show c.649-1142_649-1141insCTCTCTCTCTCTCTGTGTGTGTGTGTGT GTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR29_chr17_63993351_64009305	63995046	G G	GCAAGTCA others(27): Show GCAAGTCAAATAGCAGGAAAGTAAGTCATCTCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0002	1	406	0.0025	34	c.-33 others(45): Show c.-3319_-3318insCAAGTCAAATAGCAGGAAAGTAAGTCATCTCCTA	PRR29	ENSG00000224383.8	transcript	ENST00000412177.6	protein_coding		3304		chr17	TogoVar
PRR36_chr19_7863719_7879390	7877955	T T	TATATATA others(27): Show TATATATACATATATACATATATACGTATATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18977.hp1 NA18964.hp2 NA18977.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0001 a0004c0005t0001g0006 a0001c0001t0001g0001 a0004c0005t0001g0006	2	386	0.0052	34	c.-36 others(45): Show c.-3678_-3677insGCGTATATACGTATATATGTATATATGTATATAT	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding		3566		chr19	TogoVar
PRR5L_chr11_36291288_36470204	36350980	T T	TTATATAT others(27): Show TTATATATTTATATATTTATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA20805.hp2 HG02145.hp1 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0006 a0002c0005 a0003c0006	a0002c0005t0005 a0003c0006t0001 a0002c0005t0005 a0003c0006t0001	a0002c0005t0005g0032 a0003c0006t0001g0257 a0002c0005t0005g0032 a0003c0006t0001g0257	2	272	0.0074	34	c.-12 others(55): Show c.-125-49994_-125-49993insTTATATATTTATATATATTTATAT ATTTATATAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR5L_chr11_36291288_36470204	36350994	A A	ATTTATAT others(27): Show ATTTATATATTTATATATTTATATATATTTATAAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0002 a0005c0012t0002	a0005c0012t0002g0141 a0005c0012t0002g0141	1	272	0.0037	34	c.-12 others(55): Show c.-125-49994_-125-49993insTTATATATTTATATATATTTATAA TTTTATATAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRRC1_chr5_127512640_127560085	127556000	A A	ACCTGCTA others(27): Show ACCTGCTATAAACGTCTGTGTGCAGGTGTTTGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	340	0.0029	34	c.40 others(45): Show c.4084_*4085insCCTGCTATAAACGTCTGTGTGCAGGTGTTTGTAT	PRRC1	ENSG00000164244.21	transcript	ENST00000296666.13	protein_coding		916		chr5	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0081 a0001c0001t0016g0081	1	216	0.0046	34	c.-51 others(51): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT TTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG03579.hp2 others(1): Show HG01257.hp2 HG01258.hp2 HG03579.hp2 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0006 a0003c0002t0003 a0001c0001t0001 a0001c0001t0006 a0003c0002t0003	a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0006g0180 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0006g0180 a0003c0002t0003g0201	4	336	0.0119	34	c.665 others(53): Show c.6651+1254_6651+1255insATATATATATATATATATATATATAT ATATATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRG1_chrX_37344364_37462291	37376551	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01516.hp1 HG02056.hp1 HG01081.hp2 HG01516.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0167 a0001c0001t0001g0187 a0001c0001t0001g0113 a0001c0001t0001g0167 a0001c0001t0001g0187	3	216	0.0139	34	c.-42 others(53): Show c.-42+27177_-42+27178insATATATATATATATATATATATATAT ATATATAT	PRRG1	ENSG00000130962.18	transcript	ENST00000378628.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRX2_chr9_129660647_129727674	129684532	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	358	0.0028	34	c.259 others(53): Show c.259+18407_259+18408insACACACACACACACACACACACACAC ACACACCC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRTG_chr15_55606544_55748152	55738071	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0247 a0001c0001t0004g0247	1	284	0.0035	34	c.397 others(51): Show c.397+2310_397+2311insATATATATATATATATATATATATATAT ATATAT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	2/19			chr15	TogoVar
PRUNE2_chr9_76606376_76911114	76665352	T T	TCTGGGAC others(27): Show TCTGGGACCTCACCTCCACCCCACAGAGTAAGGTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0164 a0003c0003t0003g0164	1	240	0.0042	34	c.827 others(53): Show c.8277-9884_8277-9851dupGACCTTACTCTGTGGGGTGGAGGTGA GGTCCCAG	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	9/18			chr9	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0301 a0001c0002t0003g0301	1	416	0.0024	34	c.870 others(51): Show c.870-1095_870-1094insATATATATATATATATATATTTTTTTTT TTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD3_chr8_18522303_19018703	18752627	A A	ATATATAA others(27): Show ATATATAATATATATAATATATATAATATATATTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0009 a0001c0001t0064g0009	1	228	0.0044	34	c.217 others(55): Show c.2172+12821_2172+12822insAAATATATATTATATATATTATAT ATATTATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18759078	T T	TCACACAC others(27): Show TCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02148.hp1 HG02273.hp2 others(2): Show HG02145.hp1 HG02148.hp1 HG02273.hp2 NA18970.hp1 NA18999.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0017 a0002c0003 others(2): Show a0001c0001 a0001c0017 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0017t0005 a0002c0003t0018 others(2): Show a0001c0001t0001 a0001c0017t0005 a0002c0003t0018 a0003c0004t0013 a0004c0006t0014	a0001c0001t0001g0055 a0001c0017t0005g0011 a0002c0003t0018g0204 others(2): Show a0001c0001t0001g0055 a0001c0017t0005g0011 a0002c0003t0018g0204 a0003c0004t0013g0019 a0004c0006t0014g0050	5	228	0.0219	34	c.217 others(53): Show c.2172+6370_2172+6371insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18759092	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0010 a0010	a0010c0034 a0010c0034	a0010c0034t0001 a0010c0034t0001	a0010c0034t0001g0058 a0010c0034t0001g0058	1	228	0.0044	34	c.217 others(53): Show c.2172+6356_2172+6357insAGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18759092	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19043.hp2 HG01884.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0021 a0001c0025t0023 a0001c0001t0021 a0001c0025t0023	a0001c0001t0021g0130 a0001c0025t0023g0162 a0001c0001t0021g0130 a0001c0025t0023g0162	2	228	0.0088	34	c.217 others(53): Show c.2172+6356_2172+6357insAGAGAGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18759092	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0056 a0012c0018t0056	a0012c0018t0056g0201 a0012c0018t0056g0201	1	228	0.0044	34	c.217 others(53): Show c.2172+6356_2172+6357insAGAGAGAGTGTGTGTGTGTGTGTGTG TGTGTGTG	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18828067	A A	AATATATA others(27): Show AATATATATATGTATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0025 a0001c0002t0048g0025	1	228	0.0044	34	c.163 others(55): Show c.1635-23170_1635-23169insAAATATATATATATATATATATAC ATATATATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSIP1_chr9_15459066_15515970	15501866	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02132.hp2 HG00558.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0258 a0001c0001t0010g0253 a0001c0001t0003g0258 a0001c0001t0010g0253	2	300	0.0067	34	c.149 others(51): Show c.149+4694_149+4695insTTATATATATATATATATATATATATAT ATATAT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSMA3_chr14_58239843_58277004	58254333	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01069.hp2 others(31): Show HG00558.hp1 HG00673.hp1 HG01069.hp2 HG01071.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01978.hp2 HG02155.hp2 HG02258.hp1 HG02293.hp2 HG02572.hp2 HG02602.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG03017.hp1 HG03017.hp2 HG03927.hp2 NA18612.hp1 NA18945.hp1 NA18949.hp2 NA18957.hp2 NA18990.hp2 NA19006.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19063.hp2 NA19066.hp2 NA19074.hp2 NA19078.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0097 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0004t0001g0002	34	332	0.1024	34	c.228 others(51): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMC2_chr7_103342643_103374395	103364981	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02965.hp2 HG02572.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0099 a0001c0001t0003g0092 a0001c0001t0003g0099	2	382	0.0052	34	c.756 others(49): Show c.756+677_756+678insATATATATATATATATATATATATATTTAT TTAT	PSMC2	ENSG00000161057.13	transcript	ENST00000292644.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PSMD14_chr2_161303425_161416717	161357076	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	268	0.0037	34	c.49- others(51): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(27): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA19043.hp1 NA19075.hp2 NA18987.hp1 NA19043.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0174 a0001c0001t0002g0027 a0001c0001t0002g0089 a0001c0001t0001g0174 a0001c0001t0002g0027 a0001c0001t0002g0089	3	268	0.0112	34	c.571 others(51): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389912	T T	TTTTTTTT others(27): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	268	0.0037	34	c.571 others(51): Show c.571-1192_571-1191insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTA	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11			chr2	TogoVar
PSMD4_chr1_151249734_151272479	151251260	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	420	0.0024	34	c.-35 others(45): Show c.-3523_-3522insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		3473		chr1	TogoVar
PSME3_chr17_42828397_42848760	42848524	A A	AATATATA others(27): Show AATATATATATACATATATATATATATATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 NA19240.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	2	264	0.0076	34	c.69 others(45): Show c.6946_*6947insATATATATATACATATATATATATATATATACAT	PSME3	ENSG00000131467.12	transcript	ENST00000590720.6	protein_coding		4765		chr17	TogoVar
PSME4_chr2_53859069_53975993	53868497	G G	GATATATA others(27): Show GATATATATTATAAAATATATTTATAATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0172 a0001c0006t0003g0172	1	384	0.0026	34	c.526 others(51): Show c.5263+845_5263+878dupTATATATATTATAAATATATTTTATAAT ATATAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	44/46			chr2	TogoVar

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