Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
NEU4_chr2_241804193_241822413	241812593	G G	GGAACTGG others(244): Show GGAACTGGTCACACTGAGGACACGGAGGCTCTGTGGAACCCAGGGAACTG GTCACACTGAGGACACGGAGGCTCTGTGGAACCCAGGGAACTGGTCACAC TGAGGACACGGAGGCTCTGTGGAACCCAGGGAACTGGTCACACTGAGGAC ACGGAGGCTCTGTGGAACCCAGGGAACTGGTCACACTGAGGACACGGAGG CTCTGTGGAACCCAGGGAACTGGTCACACTGAGGACACGGAGGCTCTGTG GA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0152 a0001c0005t0001g0152	1	319	0.0031	251	c.-3- others(266): Show c.-3-1889_-3-1888insGAACTGGTCACACTGAGGACACGGAGGCTC TGTGGAACCCAGGGAACTGGTCACACTGAGGACACGGAGGCTCTGTGGAA CCCAGGGAACTGGTCACACTGAGGACACGGAGGCTCTGTGGAACCCAGGG AACTGGTCACACTGAGGACACGGAGGCTCTGTGGAACCCAGGGAACTGGT CACACTGAGGACACGGAGGCTCTGTGGAACCCAGGGAACTGGTCACACTG AGGACACGGAGGCTCTGTGGA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	1/3			chr2	TogoVar
NEXN_chr1_77883624_77948895	77887912	T T	TTTTCTTC others(244): Show TTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	268	0.0037	251	c.-90 others(260): Show c.-900_-899insTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		711		chr1	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(244): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TTATAGTAACTATATTAATATATACTAACTATATTAATAATATAGTTAGT ATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00642.hp1 others(15): Show HG00140.hp1 HG00140.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01099.hp2 HG01168.hp2 HG01256.hp2 HG01258.hp2 HG01978.hp2 HG03710.hp1 HG03834.hp1 HG04204.hp2 HG06807.hp1 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0012 a0016 a0001 a0012 a0016	a0001c0001 a0012c0009 a0016c0026 a0001c0001 a0012c0009 a0016c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0012c0009t0001 a0016c0026t0002	a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0148 others(11): Show a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0030 a0001c0001t0002g0150 a0001c0001t0017g0153 a0012c0009t0001g0151 a0016c0026t0002g0147	18	422	0.0427	251	c.195 others(268): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATATACTAACTATATTATTAATATAGTTAG TATATATTAATATAGTTACTATAAATATACTAACTATATTATTAATATAG TTACTATATATTAATATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NPBWR2_chr20_64098802_64112565	64105675	G G	GTGATGAT others(244): Show GTGATGATGATGGGGGGTGATGATGGGCGTGATGATGGGGGTGATGGTGG GGGTGATGGTGGGCGTGATGGTGGGGGTGATGGTGGGGGTGGTGGGGGGG GTGGGCGTGATGATGGGGGTGATGATGGGGGTGATGGTGGGGGTGGTGGT GGGGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGGTGGGCGTGA TGGGGGTGGGCATGATGATGGGCGTGATGATGATGGGGGGTGATGATGGG CA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0091 a0001c0002t0091	a0001c0002t0091g0064 a0001c0002t0091g0064	1	355	0.0028	251	c.15 others(260): Show c.154_*155insTGCCCATCATCACCCCCCATCATCATCACGCCCATC ATCATGCCCACCCCCATCACGCCCACCATCACCCCCACCCCCACCCCCAC CATCACCCCCACCCCCACCACCACCCCCACCATCACCCCCATCATCACCC CCATCATCACGCCCACCCCCCCCACCACCCCCACCATCACCCCCACCATC ACGCCCACCATCACCCCCACCATCACCCCCATCATCACGCCCATCATCAC CCCCCATCATCATCA	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	154		chr20	TogoVar
OTOF_chr2_26452203_26483124	26476489	C C	CCCTTCCC others(244): Show CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCACCTCCTTCCCCA CCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCCTTCCCCCAC GT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0169 a0001c0010t0001g0169	1	330	0.0030	251	c.436 others(266): Show c.436-173_436-172insACGTGGGGGAAGGGGGTGGGGAAGGAGGTG GGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGAAGGGGTGGGG GAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGG GGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGG TGGGGGAAGGGGTGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26483124	26476489	C C	CCCTTCCC others(244): Show CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCC ACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCAC GT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(70): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01515.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18946.hp1 NA18951.hp1 NA18954.hp2 NA18980.hp2 NA19004.hp2 NA19057.hp2 NA19075.hp1 NA19079.hp2 NA19085.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0016 a0020 others(1): Show a0001 a0016 a0020 a0021	a0001c0001 a0001c0005 a0001c0009 others(7): Show a0001c0001 a0001c0005 a0001c0009 a0001c0010 a0001c0018 a0001c0035 a0001c0037 a0016c0041 a0020c0022 a0021c0042	a0001c0001t0001 a0001c0001t0010 a0001c0005t0001 others(8): Show a0001c0001t0001 a0001c0001t0010 a0001c0005t0001 a0001c0009t0001 a0001c0010t0001 a0001c0018t0001 a0001c0035t0001 a0001c0037t0001 a0016c0041t0001 a0020c0022t0001 a0021c0042t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0010g0156 a0001c0005t0001g0005 a0001c0005t0001g0149 a0001c0005t0001g0150 a0001c0005t0001g0151 a0001c0005t0001g0152 a0001c0009t0001g0012 a0001c0009t0001g0141 a0001c0009t0001g0143 a0001c0009t0001g0154 a0001c0010t0001g0013 a0001c0010t0001g0102 a0001c0018t0001g0134 a0001c0035t0001g0132 a0001c0037t0001g0068 a0016c0041t0001g0153 a0020c0022t0001g0072 a0021c0042t0001g0175	73	330	0.2212	251	c.436 others(266): Show c.436-173_436-172insACGTGGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG GAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGG GGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGG TGGGGGAAGGGGTGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26483124	26476513	T T	TCCTTCCC others(244): Show TCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCC TTCCCCACCCCTTCCCCACCTCCTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCCTTCCCC CACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCCACCCCTTCCCCC ACCTCCTTCCCCACCCCTTCCCCCACGTCCTTCCCCACCCCTTCCCCCAC CA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0168 a0001c0005t0001g0168	1	330	0.0030	251	c.436 others(266): Show c.436-197_436-196insTGGTGGGGGAAGGGGTGGGGAAGGACGTGG GGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGGAAGGGGTGGG GAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAG GAGGTGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGGAAGGGGTGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476489	C C	CCCTTCCC others(244): Show CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCACCTCCTTCCCCA CCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCCTTCCCCCAC GT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0001 a0004c0025t0001	a0004c0025t0001g0145 a0004c0025t0001g0145	1	284	0.0035	251	c.267 others(268): Show c.2677-173_2677-172insACGTGGGGGAAGGGGGTGGGGAAGGAGG TGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGAAGGGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAA GGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGA GGTGGGGGAAGGGGTGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476489	C C	CCCTTCCC others(244): Show CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCC ACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCAC GT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00735.hp1 others(61): Show HG00140.hp1 HG00323.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01515.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18951.hp1 NA18954.hp2 NA18980.hp2 NA19004.hp2 NA19057.hp2 NA19079.hp2 NA19085.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0023 a0026 a0030 a0031 a0034	a0001c0001 a0001c0002 a0001c0009 others(22): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014 a0001c0034 a0001c0036 a0001c0048 a0001c0049 a0001c0053 a0001c0058 a0001c0059 a0001c0064 a0001c0080 a0002c0004 a0002c0073 a0002c0087 a0004c0013 a0004c0018 a0004c0025 a0004c0090 a0023c0065 a0026c0082 a0030c0062 a0031c0067 a0034c0077	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(27): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0020 a0001c0009t0001 a0001c0009t0010 a0001c0014t0001 a0001c0014t0022 a0001c0034t0003 a0001c0034t0010 a0001c0036t0001 a0001c0048t0001 a0001c0049t0001 a0001c0053t0001 a0001c0058t0001 a0001c0059t0001 a0001c0064t0001 a0001c0080t0001 a0002c0004t0001 a0002c0073t0001 a0002c0087t0001 a0004c0013t0001 a0004c0018t0001 a0004c0025t0001 a0004c0090t0001 a0023c0065t0001 a0026c0082t0001 a0030c0062t0001 a0031c0067t0001 a0034c0077t0001	a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0088 others(60): Show a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0088 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0209 a0001c0001t0001g0245 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0004g0020 a0001c0002t0001g0041 a0001c0002t0001g0059 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0094 a0001c0002t0001g0110 a0001c0002t0001g0122 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0207 a0001c0002t0001g0258 a0001c0002t0020g0069 a0001c0009t0001g0045 a0001c0009t0001g0169 a0001c0009t0001g0176 a0001c0009t0001g0178 a0001c0009t0001g0260 a0001c0009t0001g0262 a0001c0009t0010g0025 a0001c0014t0001g0074 a0001c0014t0001g0081 a0001c0014t0001g0082 a0001c0014t0022g0277 a0001c0034t0003g0267 a0001c0034t0010g0024 a0001c0036t0001g0080 a0001c0036t0001g0109 a0001c0048t0001g0251 a0001c0049t0001g0165 a0001c0053t0001g0166 a0001c0058t0001g0185 a0001c0059t0001g0089 a0001c0064t0001g0226 a0001c0080t0001g0032 a0002c0004t0001g0001 a0002c0004t0001g0090 a0002c0004t0001g0114 a0002c0004t0001g0161 a0002c0004t0001g0227 a0002c0004t0001g0230 a0002c0004t0001g0264 a0002c0073t0001g0073 a0002c0087t0001g0033 a0004c0013t0001g0133 a0004c0018t0001g0137 a0004c0025t0001g0147 a0004c0090t0001g0221 a0023c0065t0001g0248 a0026c0082t0001g0042 a0030c0062t0001g0130 a0031c0067t0001g0068 a0034c0077t0001g0149	64	284	0.2254	251	c.267 others(268): Show c.2677-173_2677-172insACGTGGGGGAAGGGGTGGGGAAGGAGGT GGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAA GGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGA GGTGGGGGAAGGGGTGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476513	T T	TCCTTCCC others(244): Show TCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCC TTCCCCACCCCTTCCCCACCTCCTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCCTTCCCC CACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCCACCCCTTCCCCC ACCTCCTTCCCCACCCCTTCCCCCACGTCCTTCCCCACCCCTTCCCCCAC CA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0010 a0010	a0010c0079 a0010c0079	a0010c0079t0001 a0010c0079t0001	a0010c0079t0001g0061 a0010c0079t0001g0061	1	284	0.0035	251	c.267 others(268): Show c.2677-197_2677-196insTGGTGGGGGAAGGGGTGGGGAAGGACGT GGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGGAAGGGGTG GGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGGTGGGGGAAGGGGTGG GGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG AGGAGGTGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGG GGTGGGGGAAGGGGTGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(244): Show AGGGAAGGGAAGAGGGGGGGGAAAGGGAAGGGAAGGGGAGGGGAGGGGGG AGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGG GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGAGGGGAGGGGAGGGGGGA GGGGGAGGGAGGGGGGAGGGGGAGGGGGGAGGGGAGGGGGGGAGGGGGGA GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGA AG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	302	0.0033	251	c.155 others(268): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCCTCCCCTCCCCC CTCCCCCTCCCCCCTCCCTCCCCCTCCCCCCTCCCCTCCCCTCTCCCCCT CCCCCTCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTTCCCTTCCC TTTCCCCCCCCTCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77332356	A A	AGGGAAGG others(244): Show AGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGGGAGGGGGGGAGG GGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAG GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAG GGGAGCGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGA AG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	302	0.0033	251	c.155 others(268): Show c.1551+373_1551+374insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCGCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAPPA_chr9_116148791_116407321	116289260	T T	TATATATG others(244): Show TATATATGCCATATATATAGCATATATATGGCATATATATGCCATATATA TAGCATATATATGGCATATATATGCCATATATATAGCATATATATGGCAT ATATATGCCATATATATAGCATATATATGGCATATATATGCCATATATAT AGCATATATATGGCATATATATGGCATATATATAGCATATATATGGCATA TATATGGCATATATATAGCATATATATGGCATATATATGGCATATATATG CC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03017.hp2 NA19002.hp2 HG02300.hp2 HG03017.hp2 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0038 a0002c0057 a0001c0001 a0001c0038 a0002c0057	a0001c0001t0003 a0001c0038t0001 a0002c0057t0004 a0001c0001t0003 a0001c0038t0001 a0002c0057t0004	a0001c0001t0003g0215 a0001c0038t0001g0035 a0002c0057t0004g0208 a0001c0001t0003g0215 a0001c0038t0001g0035 a0002c0057t0004g0208	3	234	0.0128	251	c.295 others(272): Show c.2954-13491_2954-13490insGCCATATATATAGCATATATATGG CATATATATGCCATATATATAGCATATATATGGCATATATATGCCATATA TATAGCATATATATGGCATATATATGCCATATATATAGCATATATATGGC ATATATATGCCATATATATAGCATATATATGGCATATATATGGCATATAT ATAGCATATATATGGCATATATATGGCATATATATAGCATATATATGGCA TATATATGGCATATATATGCCATATAT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PATL1_chr11_59631716_59674037	59632717	A A	ATATCTAT others(244): Show ATATCTATATATATATCTATATATATATATCTATATATATATCTATATAT ATATCTATATATATCTATATATATCTATATATATATCTATATATATCTAT ATATATCTATATATATCTATATATATCTATATATATATCTATATATATCT ATATATATCTATATATATCTATATATATATCTATATATATCTATATATAT ATCATATATAGATATATATCTATATATATCTATATATATATCTATATATA TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0197 a0001c0001t0004g0197	1	276	0.0036	251	c.56 others(262): Show c.5672_*5673insGATATATATAGATATATATATAGATATATATAGA TATATATCTATATATGATATATATATAGATATATATAGATATATATATAG ATATATATAGATATATATAGATATATATAGATATATATATAGATATATAT AGATATATATAGATATATATAGATATATATAGATATATATATAGATATAT ATAGATATATATAGATATATATATAGATATATATATAGATATATATATAT AGATATATATATAGATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3998		chr11	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(244): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCT CCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCC CCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0034 a0001c0013t0001g0034	1	336	0.0030	251	c.-37 others(262): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAG GGGATGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGG GGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGGA GGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(244): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCATCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCT CCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCC CCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0064 a0001c0013t0002g0064	1	336	0.0030	251	c.-37 others(262): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAG GGGATGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGG GGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGGA GGGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(244): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCT CCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCC CCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0120 a0001c0003t0002g0120	1	336	0.0030	251	c.-37 others(262): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAG GGGATGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGG GGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(244): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCC CTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0001 a0001c0038t0001	a0001c0038t0001g0138 a0001c0038t0001g0138	1	336	0.0030	251	c.-37 others(262): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGA GGGGATGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGG GGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(244): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCC CTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	336	0.0030	251	c.-37 others(262): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGA GGGGATGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGG GGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(244): Show TTCCCTCCCCTCCCCCTCCCCCTCCCTTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCC CCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0299 a0001c0005t0001g0299	1	336	0.0030	251	c.-37 others(262): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAG GGGATGGGGGAGGGGAGGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGG GGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGGG GAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDE4D_chr5_58964038_59898726	59434314	C C	CATCTTTA others(244): Show CATCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCCTAAAG AAGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGTTC CTAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGG ATGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATC TTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGAGGTTATCATCTG TT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA21309.hp2 HG02622.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0006 a0001c0001t0011g0010 a0001c0001t0006g0006 a0001c0001t0011g0010	2	74	0.0270	251	c.456 others(272): Show c.456-218347_456-218346insAACAGATGATAACCTCATCCTAAA GATGAGACTTCTTTAGGAACATCCTAAAGATGAGACTTCTTTAGGAACAT CCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGATGAGACTTCTTTAG GAACATCCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGATGAGACTT CTTTAGGAACATCCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGATG AGACTTCTTTAGGAACATCCTAAAGAT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PERM1_chr1_970198_987093	977348	C C	CCAACCCC others(244): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02129.hp2 HG04228.hp1 HG00438.hp2 HG02129.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0184 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0184	3	408	0.0074	251	c.215 others(268): Show c.2150-725_2150-724insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGT GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGA GTGGGAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIAS4_chr19_4002736_4044386	4011687	G G	GTGTGGGG others(244): Show GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGCTGTGGGATGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGT GTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGA GC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01123.hp2 others(20): Show HG00280.hp1 HG00741.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02148.hp2 HG02300.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp2 NA18983.hp1 NA19089.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0007 others(1): Show a0001c0003 a0001c0005 a0001c0007 a0002c0010	a0001c0003t0001 a0001c0003t0002 a0001c0005t0005 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0005t0005 a0001c0005t0007 a0001c0007t0001 a0001c0007t0002 a0002c0010t0002	a0001c0003t0001g0277 a0001c0003t0002g0021 a0001c0003t0002g0268 others(18): Show a0001c0003t0001g0277 a0001c0003t0002g0021 a0001c0003t0002g0268 a0001c0003t0002g0269 a0001c0003t0002g0270 a0001c0003t0002g0271 a0001c0003t0002g0272 a0001c0003t0002g0273 a0001c0003t0002g0275 a0001c0003t0002g0276 a0001c0003t0002g0282 a0001c0003t0002g0283 a0001c0005t0005g0274 a0001c0005t0007g0278 a0001c0007t0001g0279 a0001c0007t0002g0022 a0001c0007t0002g0284 a0001c0007t0002g0285 a0001c0007t0002g0286 a0002c0010t0002g0280 a0002c0010t0002g0281	23	334	0.0689	251	c.28- others(266): Show c.28-1205_28-1204insCTGTGGGATGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTTTGGTGTG GAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGT GGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTG TGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGT GGAGGTGTGTGGGGTGTGGAG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIGZ_chr3_196941356_196973833	196973810	G G	GCCCCGTC others(244): Show GCCCCGTCCGGGAGGTGAGGAGCGCCTCTGCCCGGCCCGGCTGCCCCTAC TGGGAAGTGAGGAGCCCCTCCGCCCGGCAGCCACCCCGTCTGGGAAGTGA GGAGCGTCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGACGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0256 a0001c0006t0001g0256	1	424	0.0024	251	c.-51 others(262): Show c.-5125_-5124insTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACGTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCTGCCGGGCGGA GGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCCGGGCAGAGGCGCTCC TCACCTCCCGGACGGGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4978		chr3	TogoVar
PIWIL1_chr12_130332887_130377637	130338277	G G	GGATGCAG others(244): Show GGATGCAGAGCCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAGG AGCGGGTGCGGGGTCGATGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGT GCGGGGTCGAGGTCCAGGTGCGGGGGATGCAAGGAGCCAGATGCGGTGGC GAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCC AGGTGCGGAGATGCAGGAGCCGGGTGCGGGGGCGATGGTCCCAGGTGCGG GA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0241	1	425	0.0024	251	c.-13 others(266): Show c.-13+138_-13+139insAGCCAGATGCGGTGGCGAGGTCGCAGGTGC GGGAGATGCAGGAGCGGGTGCGGGGTCGATGGTCCCAGGTGCGGGGGATG CAGGAGCCGGGTGCGGGGTCGAGGTCCAGGTGCGGGGGATGCAAGGAGCC AGATGCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGG GGTCGAGGTCCCAGGTGCGGAGATGCAGGAGCCGGGTGCGGGGGCGATGG TCCCAGGTGCGGGAGATGCAG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PKP3_chr11_389209_409908	401458	C C	CGGCCCGC others(244): Show CGGCCCGCTCACCCGGCCCCGCCCCTCACCCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCCGCTCACACCCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCCGCCCCGCTCACCCC CG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0137 a0001c0028t0001g0137	1	216	0.0046	251	c.173 others(268): Show c.1737+754_1737+755insGCCCGCTCACCCGGCCCCGCCCCTCACC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCA CACCCCGCCCCGCTCACCCCCGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHN1_chr1_961482_980865	977348	C C	CCAACCCC others(244): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA19079.hp1 HG02074.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0007t0001g0001 a0001c0001t0001g0001 a0001c0007t0001g0001	2	422	0.0047	251	c.27 others(262): Show c.2773_*2774insCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1484		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977348	C C	CCAACCCC others(244): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	422	0.0024	251	c.27 others(262): Show c.2773_*2774insCAACCCCGGGAACCGCCTCCCACTCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1484		chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151855394	A A	ATCCTCCA others(244): Show ATCCTCCACACACACCACCCTCCACACACCACCCTCCACACACACCGCCC TCCACACACCGCCCTCCACACACACCACTTTACACACACGCCACCCTCCA CACACCACCCTCCACACACACCACCCTCCACACACACCACCCTCCACACA CACCACCCTCCACACACACCACCCTCCACACACACCGCCCTCCACACACA CCACCCTCCACACACACCACCCTCCACACACCACCCTCCACACACACCAC CC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0121 a0002c0004t0003g0121	1	252	0.0040	251	c.114 others(270): Show c.114+21112_114+21113insGGGTGGTGTGTGTGGAGGGTGGTGTG TGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGTG GAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGA GGGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGCGTGTGTGTAAAGT GGTGTGTGTGGAGGGCGGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTG TGTGGAGGGTGGTGTGTGTGGAGGA	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2106871	C C	CCCTCTGG others(244): Show CCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCT CAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAG GTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCA CCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCA TGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAG GA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0198 a0001c0003t0003g0198	1	286	0.0035	251	c.335 others(270): Show c.335-28387_335-28386insTGGTGGGCGAGGACCTCCACGTGTGT CACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCC ACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCG AGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTC CGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCA AGCCCCTCCGGTGGGCGAGGACCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133749	T T	TCTCTCCA others(244): Show TCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTTCCT CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	227	0.0044	251	c.23 others(262): Show c.2317_*2318insCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTTCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2037		chr19	TogoVar
PRSS33_chr16_2778953_2792560	2787233	C C	CCCCTGTC others(244): Show CCCCTGTCTCATCCTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATC CTCACTCCTCTCTCATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCA CCCCCTCCCTCATCCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCT CACCCCCTCCCCCATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCAC CCCCTCCTCTATCCTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCA CT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01109.hp1 others(39): Show HG01069.hp2 HG01071.hp2 HG01109.hp1 HG01261.hp1 HG01884.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0025 others(11): Show a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0073 a0001c0001t0002g0063 a0002c0002t0001g0007 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0062 a0002c0002t0002g0004 a0002c0002t0002g0076 a0002c0002t0002g0097	42	386	0.1088	251	c.-58 others(266): Show c.-58+299_-58+300insAGTGAGGAGGAGGGGGCTGAGGATGGAGGA GGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGTGAGGACGAGGAGGG GTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAAG GGGGTGAGGATGAGGGAGGGGGTGACGATGGGGGGGTGAAGGATGGAGGA GGGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGGTGAAGGATGAGGGA GGGGGTGAGGATGAGACAGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787233	C C	CCCCTGTC others(244): Show CCCCTGTCTCATCCTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATC CTCACTCCTCTCTCATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCA CCCCCTCCCTCATCCTCACCCCCTTTCTCCTCACTCCCCTCCCTCATCCT CACCCCCTCCCCCATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCAC CCCCTCCTCTATCCTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCA CT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	386	0.0026	251	c.-58 others(266): Show c.-58+299_-58+300insAGTGAGGAGGAGGGGGCTGAGGATGGAGGA GGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGTGAGGACGAGGAGGG GTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGGGAGTGAGGAGAAAG GGGGTGAGGATGAGGGAGGGGGTGACGATGGGGGGGTGAAGGATGGAGGA GGGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGGTGAAGGATGAGGGA GGGGGTGAGGATGAGACAGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787233	C C	CCCCTGTC others(244): Show CCCCTGTCTCATCCTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATC CTCACTCCTCTCTCATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCA CTCCCTCCCTCATCCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCT CACCCCCTCCCCCATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCAC CCCCTCCTCTATCCTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCA CT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	386	0.0026	251	c.-58 others(266): Show c.-58+299_-58+300insAGTGAGGAGGAGGGGGCTGAGGATGGAGGA GGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGTGAGGACGAGGAGGG GTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAAG GGGGTGAGGATGAGGGAGGGAGTGACGATGGGGGGGTGAAGGATGGAGGA GGGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGGTGAAGGATGAGGGA GGGGGTGAGGATGAGACAGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(244): Show TCCTCTCCTCTCCTCTCCACTCCTCTCCTCTCCACTCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTC TGCTCCCCTCTCCTCCCCCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTC TCCCCTCCCCCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCC CTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCTCCTCCCCT CC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0051 a0002c0002t0002g0051	1	94	0.0106	251	c.191 others(272): Show c.191-103928_191-103927insACTCCTCTCCTCTCCACTCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTC CTCTCCTCTGCTCCCCTCTCCTCCCCCCCCTCCCCTCCCCTCCTGTCCCC CTCCCCTCTCCCCTCCCCCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTC CCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCT CCTCCCCTCCCCTCTCCTCTCCTCTCC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(244): Show TCCTCTCCTCTCCTCTCCTCTCCACTCCTCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTC TGCTCCCCTCTCCTCCCCCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTC TCCCCTCCCCCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCC CTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCTCCTCCCCT CC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02300.hp2 NA18998.hp1 HG01255.hp1 HG02300.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0002g0086 a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0002g0086	3	94	0.0319	251	c.191 others(272): Show c.191-103924_191-103923insCACTCCTCTCCTCTCCACTCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCT CCTCTGCTCCCCTCTCCTCCCCCCCCTCCCCTCCCCTCCTGTCCCCCTCC CCTCTCCCCTCCCCCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTCCCCT CCCCCTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCTCCTC CCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB11FIP3_chr16_420649_528011	504412	G G	GTACCACC others(244): Show GTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCT CACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCT GTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACC TCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCCTCACCTCCTCCTG TA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp2 HG03195.hp2 others(2): Show HG01243.hp1 HG02723.hp2 HG03195.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0009 a0001c0002t0038 others(1): Show a0001c0001t0015 a0001c0002t0009 a0001c0002t0038 a0001c0002t0044	a0001c0001t0015g0039 a0001c0002t0009g0040 a0001c0002t0009g0253 others(2): Show a0001c0001t0015g0039 a0001c0002t0009g0040 a0001c0002t0009g0253 a0001c0002t0038g0038 a0001c0002t0044g0042	5	295	0.0170	251	c.139 others(270): Show c.1396-1112_1396-1111insTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC CTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCT GTACCCCCCCTCACCTCCTCCTGTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RALGAPA2_chr20_20384530_20717644	20458856	C C	CTATATAT others(244): Show CTATATATATATAGACCTATATATATATAGACCTATATATATAGGTCTAT ATATATATAGGTCTATTATAGACCTATATATATAGACCTATATATATATA GACCTATATATATATAGACCTATATATATAGACCTATATATATATAGACC TATATATATATATAGACCTATATATATATATAGACCTATATATATATAGA CCTATATATATAGACCTATATATATATAGACCTATATATATATATAGACC TA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0101 a0002c0002t0008g0101	1	122	0.0082	251	c.549 others(272): Show c.5495+13972_5495+13973insTAGGTCTATATATATATATAGGTC TATATATATATAGGTCTATATATATAGGTCTATATATATATAGGTCTATA TATATATATAGGTCTATATATATATATAGGTCTATATATATATAGGTCTA TATATATAGGTCTATATATATATAGGTCTATATATATATAGGTCTATATA TATAGGTCTATAATAGACCTATATATATATAGACCTATATATATAGGTCT ATATATATATAGGTCTATATATATATA	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39			chr20	TogoVar
RASA3_chr13_113972783_114137623	114099780	A A	ACAGCCCC others(244): Show ACAGCCCCCACAGCAGCCCCCCCACAGCAGCCCCCCCACAGCCCCCCCAC AGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCAGCC CCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCC CCCACAGCCCCCCACAGCAGCCCCCCACAGCAGCCCCCCCACAGCCCCCC CACAGCCCCCCACAGCAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCAC AG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	67	0.0149	251	c.56- others(268): Show c.56-25944_56-25943insCTGTGGGGGGCTGTGGGGGGGCTGCTGT GGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGG GGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGG GGCTGTGGGGGGGCTGCTGTGGGGGGCTGCTGTGGGGGCTGTGGGGGGGC TGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTG TGGGGGGGCTGCTGTGGGGGCTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(244): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCACTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	396	0.0025	251	c.-76 others(260): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCACTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505328	C C	CTCCCTCT others(244): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0142 a0001c0001t0079g0142	1	396	0.0025	251	c.-69 others(260): Show c.-697_-696insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		208		chr14	TogoVar
RNF17_chr13_24759169_24884921	24882005	G G	GATACATC others(244): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0279 a0001c0001t0001g0280	2	426	0.0047	251	c.22 others(262): Show c.2279_*2280insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2085		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882027	G G	GATACATC others(244): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	426	0.0024	251	c.23 others(262): Show c.2301_*2302insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2107		chr13	TogoVar
RPH3AL_chr17_207389_357807	340445	C C	CTCCCAGG others(244): Show CTCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCC CACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACGTCCACACTCA CTGCCCCCTCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCC ACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCT GG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0064 a0001c0003t0036g0064	1	133	0.0075	251	c.-21 others(270): Show c.-212-6512_-212-6511insCCAGGGCAGTGAGTGTGGATGTGGGG AGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGG GGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGG ATGTGGGGAGGCCTGGGAGGGGGCAGTGAGTGTGGACGTGGGGAGGCCTG GGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTG AGTGTGGATGTGGGGAGGCCTGGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340700	C C	CCAGGCCT others(244): Show CCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCAC GTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCACTG CCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGC CTCCCCACATCCAATCTCACTGCCCCGACCCAGGCCTCCCCACATCCACA CTCACTGTCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCGGG CT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0059 a0001c0003t0002g0059	1	133	0.0075	251	c.-21 others(270): Show c.-212-6767_-212-6766insAGCCCGGGGCAGTGAGTGTGGATGTG GGGAGGCCTGGGTGGGGGACAGTGAGTGTGGATGTGGGGAGGCCTGGGTC GGGGCAGTGAGATTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGT GGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGC CTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGCCTGGGTGGGGGGCA GTGAGTGTGGATGTGGGGAGGCCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340734	A A	ACCCAGGC others(244): Show ACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCTCCCAGGCCTCCCC ACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACGTCCACACTTAC TGCCCCCTCCCAGGCCTCCCCACATCCACACTCACTGCCTCCCACCCAGG CCTCCCCACATCCACACTCACTGCCCTGGGCCCAGGCCTCCCCACATCCA CACTCACTGCCCCCCACCCAGGCCTCCCCACGTCCACACTCACTGCCCCC CT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0064 a0001c0003t0036g0064	1	133	0.0075	251	c.-21 others(270): Show c.-212-6801_-212-6800insAGGGGGGCAGTGAGTGTGGACGTGGG GAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGCCCA GGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTG GATGTGGGGAGGCCTGGGAGGGGGCAGTAAGTGTGGACGTGGGGAGGCCT GGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGT GAGTGTGGATGTGGGGAGGCCTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RUNDC3B_chr7_87623398_87837296	87626594	G G	GTGTCATA others(244): Show GTGTCATATATATGTCATATATATGTGTCATATATATGTCATATATATGT GTCATATATATGTCATATATATGTGTCATATATATGTCATATATATGTGT CATATATATGTCATATATATGTGTCATATATATGTCATATATATGTGTCA TATATATGTCATATATATGTGTCATATATATGTCATATATATGTGTCATA TATATGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	202	0.0050	251	c.-22 others(262): Show c.-2230_-2229insTGTCATATATATGTCATATATATGTGTCATATAT ATGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATAT GTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATATGT CATATATATGTGTCATATATATGTCATATATATGTGTCATATATATGTCA TATATATGTGTCATATATATGTCATATATATGTGTCATATATATGTCATA TATATGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1803		chr7	TogoVar
SCNN1D_chr1_1275436_1297025	1288813	C C	CCGTGTCT others(244): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCG TGTCTCTGCTCCGTCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCGTCCCGTGTCTCTGCCCC GT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	290	0.0035	251	c.166 others(268): Show c.1662+777_1662+778insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCC CGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TACATATG others(244): Show TACATATGTATCACATACATATGTATCACATACATATGTATCACATACAT ATGTATCACATACATATGTATCACATACATATGTATCACATACATATGTA TCACATACATATGTATCACATACATATGTATCACATACATATGTATCACA TACATATGTATCACATACATATGTATCACATACATATGTATCACATACAT ATGTATCACATACATATGTATCACATACATATGTATCACATACATATCAC AC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0048 a0001c0009t0001g0048	1	244	0.0041	251	c.104 others(270): Show c.104-35140_104-35139insGTGTGATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(244): Show GTATTATATATTATATAATATATAATGTATTATATATTATATAATATATA ATATATAATGTATTATATATTATATAATATATAATATATAATGTATTATA TATTATATAATATATAATATATAATGTATTATATATTATATAATATATAA TATATAATGTATTATATATTATATAATATATAATATATAATACATTATTT ATTATATAATATATAATATATAATACATTATTTATTATATAATATATAAT AT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	290	0.0035	251	c.234 others(268): Show c.234-7088_234-7087insATATTATATATTATATAATAAATAATGT ATTATATATTATATATTATATAATAAATAATGTATTATATATTATATATT ATATAATATATAATACATTATATATTATATATTATATAATATATAATACA TTATATATTATATATTATATAATATATAATACATTATATATTATATATTA TATAATATATAATACATTATATATTATATATTATATAATATATAATACAT TATATATTATATAATATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar

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