Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRKAG2_chr7_151551127_151882115	151854961	TACCACCC others(41): Show TACCACCCTCCACACACACCATGCTCCACACACACCATGCTCCACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp2 HG02015.hp1 others(13): Show HG00323.hp2 HG01168.hp2 HG02015.hp1 HG02572.hp1 HG02698.hp2 HG03017.hp2 HG03239.hp1 HG03453.hp2 HG03710.hp2 NA18954.hp2 NA18990.hp2 NA18998.hp2 NA18999.hp1 NA19007.hp2 NA19060.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0074 others(13): Show a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0138 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0101 a0001c0001t0002g0155 a0001c0001t0003g0091 a0001c0001t0003g0115 a0001c0001t0003g0161 a0001c0001t0004g0223 a0001c0001t0006g0146	16	196	0.0816	-48	c.114 others(67): Show c.114+21498_114+21545delGTGTGTGGAGCATGGTGTGTGTGGAG CATGGTGTGTGTGGAGGGTGGT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCA_chr17_66297613_66815743	66562090	AATATATA others(41): Show AATATATATAATTAAATTATATATATAATTAAATATATATAATTAAATT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp1 HG02273.hp1 others(8): Show HG00323.hp2 HG01099.hp1 HG02273.hp1 HG02293.hp1 HG02486.hp1 HG02615.hp1 HG03486.hp2 NA18942.hp1 NA18975.hp1 NA18983.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0072 a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0003t0010 a0001c0003t0020	a0001c0001t0003g0102 a0001c0001t0004g0046 a0001c0001t0004g0073 others(8): Show a0001c0001t0003g0102 a0001c0001t0004g0046 a0001c0001t0004g0073 a0001c0001t0005g0084 a0001c0001t0005g0173 a0001c0001t0072g0113 a0001c0002t0001g0042 a0001c0002t0008g0043 a0001c0002t0009g0110 a0001c0003t0010g0076 a0001c0003t0020g0170	11	175	0.0629	-48	c.288 others(67): Show c.288+65853_288+65900delATTATATATATAATTAAATTATATAT ATAATTAAATATATATAATTAA	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66562136	ATTATATA others(41): Show ATTATATATATAATTAAATTATATATATAATTAAATATATATAATTAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00639.hp2 others(37): Show HG00140.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG02004.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02572.hp1 HG02683.hp2 HG02698.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG04115.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18950.hp2 NA18975.hp2 NA18983.hp2 NA18986.hp1 NA18993.hp1 NA19010.hp1 NA19065.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0030 a0001c0001t0038 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0061 a0001c0001t0064 a0001c0001t0078 a0001c0001t0079 a0001c0001t0094 a0001c0001t0097 a0001c0002t0001 a0001c0002t0004 a0001c0002t0019 a0001c0002t0026 a0001c0002t0037 a0001c0002t0059 a0001c0002t0063 a0001c0002t0090 a0001c0003t0010 a0001c0003t0011 a0001c0003t0012 a0001c0003t0062 a0001c0003t0089 a0001c0004t0036 a0001c0004t0058	a0001c0001t0001g0008 a0001c0001t0001g0160 a0001c0001t0002g0021 others(37): Show a0001c0001t0001g0008 a0001c0001t0001g0160 a0001c0001t0002g0021 a0001c0001t0003g0061 a0001c0001t0003g0072 a0001c0001t0003g0087 a0001c0001t0003g0103 a0001c0001t0003g0166 a0001c0001t0005g0001 a0001c0001t0007g0029 a0001c0001t0021g0089 a0001c0001t0022g0085 a0001c0001t0023g0094 a0001c0001t0027g0124 a0001c0001t0030g0082 a0001c0001t0038g0117 a0001c0001t0041g0016 a0001c0001t0043g0013 a0001c0001t0045g0004 a0001c0001t0061g0053 a0001c0001t0064g0168 a0001c0001t0078g0144 a0001c0001t0079g0121 a0001c0001t0094g0139 a0001c0001t0097g0050 a0001c0002t0001g0146 a0001c0002t0004g0014 a0001c0002t0019g0097 a0001c0002t0026g0123 a0001c0002t0037g0116 a0001c0002t0059g0178 a0001c0002t0063g0038 a0001c0002t0090g0119 a0001c0003t0010g0064 a0001c0003t0011g0151 a0001c0003t0012g0059 a0001c0003t0062g0162 a0001c0003t0089g0129 a0001c0004t0036g0071 a0001c0004t0058g0174	40	176	0.2273	-48	c.288 others(67): Show c.288+65863_288+65910delTAATTAAATTATATATATAATTAAAT ATATATAATTAAGTTATATATA	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798506	GTGACGGT others(41): Show GTGACGGTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0089 a0001c0001t0021g0089	1	176	0.0057	-48	c.185 others(67): Show c.1855-5364_1855-5317delACGGTGGTGACGGTGGTGGTGATGGT GGTGACGGTGGTGGTGGTGATG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798519	CGGTGGTG others(41): Show CGGTGGTGGTGATGGTGGTGACGGTGGTGGTGGTGATGGTGGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0156 a0001c0001t0032g0156	1	117	0.0085	-48	c.185 others(67): Show c.1855-5334_1855-5287delACGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGATGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799046	ATGGTGAT others(41): Show ATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0052 a0001c0006t0052	a0001c0006t0052g0091 a0001c0006t0052g0091	1	110	0.0091	-48	c.185 others(67): Show c.1855-4821_1855-4774delATGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	23865481	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0032 a0001c0005t0013g0032	1	142	0.0070	-48	c.205 others(67): Show c.205+28077_205+28124delATATATATATATATATATATATATAT ATATATATATGTGTGTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865489	ATATATAT others(41): Show ATATATATATATATATATATATATATATATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02258.hp1 HG02559.hp1 others(3): Show HG01167.hp2 HG02258.hp1 HG02559.hp1 HG03209.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010	a0001c0001t0049 a0001c0001t0076 a0001c0002t0012 others(3): Show a0001c0001t0049 a0001c0001t0076 a0001c0002t0012 a0001c0002t0059 a0001c0007t0054 a0001c0010t0088	a0001c0001t0049g0101 a0001c0001t0076g0100 a0001c0002t0012g0098 others(3): Show a0001c0001t0049g0101 a0001c0001t0076g0100 a0001c0002t0012g0098 a0001c0002t0059g0096 a0001c0007t0054g0095 a0001c0010t0088g0099	6	146	0.0411	-48	c.205 others(67): Show c.205+28085_205+28132delATATATATATATATATATATATATAT ATGTGTGTGTGTGTGTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24125059	TTTACCTA others(41): Show TTTACCTATAATTAATCGTTACCTATAATTAATTGCAATCCCAATCTTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00609.hp2 others(104): Show HG00423.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0016 a0001c0018 a0002c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(90): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0033 a0001c0001t0040 a0001c0001t0041 a0001c0001t0046 a0001c0001t0056 a0001c0001t0058 a0001c0001t0060 a0001c0001t0062 a0001c0001t0066 a0001c0001t0069 a0001c0001t0076 a0001c0001t0079 a0001c0001t0081 a0001c0002t0012 a0001c0002t0018 a0001c0002t0023 a0001c0002t0034 a0001c0002t0035 a0001c0002t0043 a0001c0002t0050 a0001c0002t0052 a0001c0002t0059 a0001c0002t0068 a0001c0002t0070 a0001c0002t0083 a0001c0002t0084 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0008 a0001c0003t0010 a0001c0003t0024 a0001c0003t0025 a0001c0003t0026 a0001c0003t0044 a0001c0003t0048 a0001c0003t0057 a0001c0003t0064 a0001c0003t0065 a0001c0003t0071 a0001c0003t0074 a0001c0003t0075 a0001c0004t0002 a0001c0004t0007 a0001c0004t0009 a0001c0004t0013 a0001c0004t0053 a0001c0004t0072 a0001c0004t0077 a0001c0004t0086 a0001c0004t0087 a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 a0001c0005t0008 a0001c0005t0013 a0001c0005t0015 a0001c0005t0020 a0001c0005t0051 a0001c0005t0078 a0001c0006t0006 a0001c0006t0039 a0001c0006t0082 a0001c0007t0001 a0001c0007t0025 a0001c0007t0054 a0001c0008t0016 a0001c0008t0037 a0001c0009t0038 a0001c0009t0073 a0001c0010t0006 a0001c0010t0061 a0001c0010t0088 a0001c0011t0002 a0001c0012t0024 a0001c0013t0047 a0001c0016t0004 a0001c0018t0008 a0002c0017t0027	a0001c0001t0002g0129 a0001c0001t0003g0075 a0001c0001t0004g0086 others(104): Show a0001c0001t0002g0129 a0001c0001t0003g0075 a0001c0001t0004g0086 a0001c0001t0005g0104 a0001c0001t0007g0004 a0001c0001t0008g0054 a0001c0001t0010g0053 a0001c0001t0011g0112 a0001c0001t0014g0137 a0001c0001t0017g0071 a0001c0001t0017g0087 a0001c0001t0019g0102 a0001c0001t0019g0144 a0001c0001t0020g0080 a0001c0001t0021g0006 a0001c0001t0021g0120 a0001c0001t0028g0048 a0001c0001t0033g0060 a0001c0001t0040g0018 a0001c0001t0041g0097 a0001c0001t0046g0029 a0001c0001t0056g0109 a0001c0001t0058g0072 a0001c0001t0060g0108 a0001c0001t0062g0090 a0001c0001t0066g0007 a0001c0001t0069g0051 a0001c0001t0076g0100 a0001c0001t0079g0142 a0001c0001t0081g0085 a0001c0002t0012g0098 a0001c0002t0012g0141 a0001c0002t0012g0148 a0001c0002t0018g0083 a0001c0002t0023g0077 a0001c0002t0023g0078 a0001c0002t0034g0084 a0001c0002t0035g0139 a0001c0002t0043g0058 a0001c0002t0050g0008 a0001c0002t0052g0121 a0001c0002t0059g0096 a0001c0002t0068g0052 a0001c0002t0070g0045 a0001c0002t0083g0068 a0001c0002t0084g0067 a0001c0003t0001g0070 a0001c0003t0001g0128 a0001c0003t0001g0134 a0001c0003t0002g0033 a0001c0003t0004g0076 a0001c0003t0008g0140 a0001c0003t0010g0103 a0001c0003t0010g0146 a0001c0003t0024g0057 a0001c0003t0025g0016 a0001c0003t0026g0113 a0001c0003t0044g0131 a0001c0003t0048g0055 a0001c0003t0057g0125 a0001c0003t0064g0143 a0001c0003t0065g0122 a0001c0003t0071g0046 a0001c0003t0074g0145 a0001c0003t0075g0019 a0001c0004t0002g0009 a0001c0004t0002g0010 a0001c0004t0007g0041 a0001c0004t0009g0011 a0001c0004t0009g0026 a0001c0004t0009g0092 a0001c0004t0013g0044 a0001c0004t0053g0030 a0001c0004t0072g0094 a0001c0004t0077g0091 a0001c0004t0086g0024 a0001c0004t0087g0023 a0001c0005t0001g0013 a0001c0005t0005g0034 a0001c0005t0006g0028 a0001c0005t0008g0027 a0001c0005t0013g0032 a0001c0005t0015g0038 a0001c0005t0020g0037 a0001c0005t0051g0040 a0001c0005t0078g0015 a0001c0006t0006g0014 a0001c0006t0006g0043 a0001c0006t0039g0025 a0001c0006t0082g0093 a0001c0007t0001g0117 a0001c0007t0025g0050 a0001c0007t0054g0095 a0001c0008t0016g0118 a0001c0008t0016g0126 a0001c0008t0037g0127 a0001c0009t0038g0056 a0001c0009t0073g0031 a0001c0010t0006g0147 a0001c0010t0061g0111 a0001c0010t0088g0099 a0001c0011t0002g0136 a0001c0012t0024g0022 a0001c0013t0047g0047 a0001c0016t0004g0133 a0001c0018t0008g0049 a0002c0017t0027g0081	107	146	0.7329	-48	c.106 others(67): Show c.1065+1142_1065+1189delCGTTACCTATAATTAATTGCAATCCC AATCTTGTTACCTATAATTAAT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCG_chr19_53877197_53912652	53906054	CCTCCTCC others(41): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00609.hp1 others(21): Show HG00423.hp1 HG00544.hp1 HG00609.hp1 HG00741.hp1 HG03491.hp2 HG03492.hp2 HG04199.hp2 NA18747.hp1 NA18943.hp1 NA18952.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18982.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp2 NA19010.hp2 NA19068.hp1 NA19085.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0024	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0011t0001 a0001c0024t0001	a0001c0001t0001g0257 a0001c0001t0001g0310 a0001c0002t0001g0091 others(17): Show a0001c0001t0001g0257 a0001c0001t0001g0310 a0001c0002t0001g0091 a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0010 a0001c0003t0001g0161 a0001c0003t0001g0174 a0001c0003t0001g0180 a0001c0003t0001g0214 a0001c0003t0001g0242 a0001c0003t0001g0269 a0001c0003t0001g0284 a0001c0003t0001g0304 a0001c0003t0001g0307 a0001c0003t0001g0329 a0001c0003t0001g0330 a0001c0011t0001g0158 a0001c0011t0001g0159 a0001c0024t0001g0094	24	359	0.0669	-48	c.176 others(65): Show c.1765-260_1765-213delCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTTCTTCTTCTTCTTCTTCT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2121813	CGGTGGTG others(41): Show CGGTGGTGGTTAGGGTCGTGGTAGTTAGGTTCATGGTGGTGGTTAGGGT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp2 NA18612.hp2 HG02155.hp1 HG02155.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0011 a0001c0004t0001 a0001c0004t0002 a0001c0002t0011 a0001c0004t0001 a0001c0004t0002	a0001c0002t0011g0012 a0001c0004t0001g0007 a0001c0004t0002g0040 a0001c0002t0011g0012 a0001c0004t0001g0007 a0001c0004t0002g0040	3	183	0.0164	-48	c.335 others(67): Show c.335-13448_335-13401delGGTGGTGGTTAGGGTCGTGGTAGTTA GGTTCATGGTGGTGGTTAGGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121814	GGTGGTGG others(41): Show GGTGGTGGTTAGGGTCGTGGTAGTTAGGTTCATGGTGGTGGTTAGGGTC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03516.hp1 HG03579.hp1 others(1): Show HG02622.hp1 HG03516.hp1 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0113 a0001c0001t0001g0164 a0001c0001t0001g0235 others(1): Show a0001c0001t0001g0113 a0001c0001t0001g0164 a0001c0001t0001g0235 a0001c0001t0002g0028	4	272	0.0147	-48	c.335 others(67): Show c.335-13432_335-13385delGTGGTAGTTAGGTTCATGGTGGTGGT TAGGGTCGTGGTGGTTAGGGTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122003	CACGGTGG others(41): Show CACGGTGGTGGTTAGGGTCGTGGTAGTTAGGTTCATGGTGGTGGTTAGG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	269	0.0037	-48	c.335 others(67): Show c.335-13258_335-13211delACGGTGGTGGTTAGGGTCGTGGTAGT TAGGTTCATGGTGGTGGTTAGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122006	GGTGGTGG others(41): Show GGTGGTGGTTAGGGTCGTGGTAGTTAGGTTCATGGTGGTGGTTAGGGTC	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	282	0.0035	-48	c.335 others(67): Show c.335-13240_335-13193delGTGGTAGTTAGGTTCATGGTGGTGGT TAGGGTCGTGGTGGTTAGGGTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122170	TGGTGGTT others(41): Show TGGTGGTTAGGGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02129.hp1 HG02148.hp1 others(5): Show HG02027.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp1 NA18612.hp1 NA18948.hp1 NA19003.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0066 a0001c0002t0001g0222 a0001c0002t0001g0223 others(5): Show a0001c0001t0001g0066 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0238 a0001c0003t0001g0114	8	266	0.0301	-48	c.335 others(67): Show c.335-13079_335-13032delTGTGGTGGTTAGGGTGGTGGTGGTTA GGGTCGTGGCGGTGGTTAGGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122811	GGCGGTGG others(41): Show GGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0232 a0001c0003t0003g0232	1	278	0.0036	-48	c.335 others(67): Show c.335-12449_335-12402delCGGTGGTTAGGGTCGTGGCGGTGGTT AGGGTTGTGGTGGTTAGGGTTG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122813	CGGTGGTT others(41): Show CGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03942.hp1 HG02602.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0149 a0001c0002t0004g0215 a0001c0002t0004g0149 a0001c0002t0004g0215	2	170	0.0118	-48	c.335 others(67): Show c.335-12435_335-12388delGTGGCGGTGGTTAGGGTTGTGGTGGT TAGGGTTGTGGTGGTTAGGGTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123505	GGCGGTGG others(41): Show GGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	282	0.0035	-48	c.335 others(67): Show c.335-11755_335-11708delCGGTGGTTAGGGTCGTGGCGGTGGTT AGGGTTGTGGTGGTTAGGGTTG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKD1_chr14_29571479_29932847	29826742	TACACATA others(41): Show TACACATATATATATACATATATATATACACATATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01361.hp1 others(10): Show HG01243.hp2 HG01255.hp1 HG01361.hp1 HG01496.hp1 HG01928.hp1 HG01981.hp2 HG02074.hp1 HG02486.hp2 HG02717.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0007t0011 a0002c0005t0001	a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0047 others(10): Show a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0002g0055 a0001c0001t0004g0146 a0001c0002t0002g0036 a0001c0007t0011g0013 a0002c0005t0001g0128	13	142	0.0915	-48	c.264 others(69): Show c.264+100459_264+100506delGTATATATGTATATATATGTGTAT ATATATATGTATATATATATGTGT	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKD1_chr14_29571479_29932847	29826754	TATACATA others(41): Show TATACATATATATATACACATATATATACATATATACACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	147	0.0068	-48	c.264 others(69): Show c.264+100447_264+100494delGTATATATATGTGTATATATGTAT ATATATGTGTATATATATATGTAT	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKDC_chr8_47768111_47965136	47922060	CGTGAGCC others(41): Show CGTGAGCCACTGCACCCAGCCTGATTTTTCATTTTTCTTGGATTACAGG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 HG02965.hp1 others(1): Show HG02615.hp1 HG02723.hp2 HG02965.hp1 HG03486.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0060 a0008c0006t0001g0061 a0008c0006t0001g0062 others(1): Show a0008c0006t0001g0060 a0008c0006t0001g0061 a0008c0006t0001g0062 a0008c0006t0001g0063	4	196	0.0204	-48	c.242 others(67): Show c.2420-3725_2420-3678delCCTGTAATCCAAGAAAAATGAAAAAT CAGGCTGGGTGCAGTGGCTCAC	PRKDC	ENSG00000253729.9	transcript	ENST00000314191.7	protein_coding	21/85			chr8	TogoVar
PRKG1_chr10_51069487_52303350	51392935	GGGGCGGC others(41): Show GGGGCGGCTGGCCGGGCTGAGGGCTGACCCCCCACCTCCCTCCCGGACA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03453.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0052 a0001c0002t0002g0025 a0001c0002t0001g0052 a0001c0002t0002g0025	2	64	0.0313	-48	c.479 others(67): Show c.479-74784_479-74737delCGGCTGGCCGGGCTGAGGGCTGACCC CCCACCTCCCTCCCGGACAGGG	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51614931	CCATCTTT others(41): Show CCATCTTTGAATATATTCAACTTTGAATATATCCATCTTTGAATATATT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	64	0.0156	-48	c.592 others(69): Show c.592+147098_592+147145delTCTTTGAATATATTCAACTTTGAA TATATCCATCTTTGAATATATTCA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52302460	GCACATAT others(41): Show GCACATATGTACACATGCCTATATGCACATATGTACACATGCCTATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01192.hp2 others(6): Show HG00140.hp2 HG00639.hp2 HG01192.hp2 HG02109.hp1 HG02886.hp2 HG02896.hp1 HG03225.hp1 HG03834.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0002t0002 a0002c0004t0004	a0001c0001t0002g0026 a0001c0001t0002g0036 a0001c0001t0002g0041 others(6): Show a0001c0001t0002g0026 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0004g0035 a0001c0001t0008g0003 a0001c0001t0008g0027 a0001c0002t0002g0025 a0002c0004t0004g0053	9	61	0.1475	-48	c.85 others(59): Show c.8561_*8608delCACATATGTACACATGCCTATATGCACATATGTA CACATGCCTATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding		4111		chr10	TogoVar
PRKG1_chr10_51069487_52303350	52302484	GCACATAT others(41): Show GCACATATGTACACATGCCTATATACACATATGTACACATGCATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02622.hp1 HG02818.hp1 others(6): Show HG01243.hp2 HG02622.hp1 HG02818.hp1 HG02896.hp2 HG03130.hp2 HG03453.hp1 HG03486.hp2 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0003 a0001c0002t0006 a0001c0003t0002 a0001c0007t0004	a0001c0001t0003g0029 a0001c0001t0005g0031 a0001c0001t0006g0010 others(6): Show a0001c0001t0003g0029 a0001c0001t0005g0031 a0001c0001t0006g0010 a0001c0001t0015g0009 a0001c0002t0003g0030 a0001c0002t0006g0013 a0001c0002t0006g0024 a0001c0003t0002g0033 a0001c0007t0004g0056	9	46	0.1957	-48	c.85 others(59): Show c.8585_*8632delCACATATGTACACATGCCTATATACACATATGTA CACATGCATATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding		4135		chr10	TogoVar
PRORP_chr14_35117552_35282622	35233412	CTTATCTA others(41): Show CTTATCTACTGTGCTTAATTAGGATGTCTGTCAAAACTAATTTCCTATA	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02129.hp1 HG03710.hp2 others(5): Show HG02083.hp2 HG02129.hp1 HG03710.hp2 HG04199.hp2 NA18945.hp1 NA18960.hp2 NA18964.hp2 NA19089.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0010 a0001c0001 a0001c0002 a0006c0010	a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0006c0010t0002	a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0110 others(5): Show a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0110 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0006g0040 a0001c0002t0002g0241 a0006c0010t0002g0093	8	312	0.0256	-48	c.127 others(69): Show c.1276-33314_1276-33267delTTATCTACTGTGCTTAATTAGGAT GTCTGTCAAAACTAATTTCCTATA	PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	5/7			chr14	TogoVar
PRR29_chr17_63993351_64009305	63993474	GGGAAGGA others(41): Show GGGAAGGAGGGAGGGAGGGAAGGAGGAAAGGAAGGAGGGAGGGAGGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	404	0.0025	-48	c.-48 others(59): Show c.-4890_-4843delGGAAGGAGGGAGGGAGGGAAGGAGGAAAGGAAGG AGGGAGGGAGGGAA	PRR29	ENSG00000224383.8	transcript	ENST00000412177.6	protein_coding		4876		chr17	TogoVar
PRRG3_chrX_151690458_151710924	151703868	TTTTTTTT others(41): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02723.hp2 others(10): Show HG01884.hp2 HG02258.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0007 a0001c0001t0073 a0001c0007t0072 a0001c0001t0007 a0001c0001t0073 a0001c0007t0072	a0001c0001t0007g0004 a0001c0001t0007g0007 a0001c0001t0007g0019 others(3): Show a0001c0001t0007g0004 a0001c0001t0007g0007 a0001c0001t0007g0019 a0001c0001t0007g0038 a0001c0001t0073g0007 a0001c0007t0072g0022	13	332	0.0392	-48	c.28 others(59): Show c.2837_*2884delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGTGT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2837	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRSS22_chr16_2847730_2863170	2857212	CTCCCCAG others(41): Show CTCCCCAGCGCCTAGTGAGGAGGGTTCCCCAGCGCCCAGTGAGGAGGGG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	310	0.0032	-48	c.83- others(61): Show c.83-412_83-365delCCCCTCCTCACTGGGCGCTGGGGAACCCTCCT CACTAGGCGCTGGGGA	PRSS22	ENSG00000005001.10	transcript	ENST00000161006.8	protein_coding	1/5			chr16	TogoVar
PRSS57_chr19_680546_700452	682211	GTCTAGCC others(41): Show GTCTAGCCTGGGTGAGTACGGAGGGTCTAGCCTGGGTGTGTATGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0093 a0002c0003t0001g0093	1	334	0.0030	-48	c.34 others(59): Show c.3457_*3504delTCCTCCATACACACCCAGGCTAGACCCTCCGTAC TCACCCAGGCTAGA	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding		3334		chr19	TogoVar
PRSS57_chr19_680546_700452	682249	TGTATGGA others(41): Show TGTATGGAGGATCTAGCCTGGGTGAGTATGGAGGGTCTAGCCTGGGTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	440	0.0023	-48	c.34 others(59): Show c.3419_*3466delTCACCCAGGCTAGACCCTCCATACTCACCCAGGC TAGATCCTCCATAC	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding		3296		chr19	TogoVar
PRSS57_chr19_680546_700452	682273	AGTATGGA others(41): Show AGTATGGAGGGTCTAGCCTGGGTGAGTATGGAGGGTCTAGCCTGGGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01261.hp2 HG01516.hp1 others(11): Show HG01255.hp2 HG01261.hp2 HG01516.hp1 HG02080.hp1 HG02135.hp1 HG02300.hp1 HG02602.hp2 HG02698.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18979.hp2 NA20752.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0011 a0001c0005t0001g0018 a0001c0005t0001g0032 others(3): Show a0001c0005t0001g0011 a0001c0005t0001g0018 a0001c0005t0001g0032 a0001c0005t0001g0094 a0001c0005t0001g0095 a0001c0005t0001g0096	14	439	0.0319	-48	c.33 others(59): Show c.3395_*3442delACACCCAGGCTAGACCCTCCATACTCACCCAGGC TAGACCCTCCATAC	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding		3272		chr19	TogoVar
PSD3_chr8_18522303_19018703	18865248	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0020 a0002c0005t0001g0020	1	203	0.0049	-48	c.163 others(67): Show c.1634+2378_1634+2425delAAAAAAAAAATATATATATATATATA TATATATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73184109	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGCCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02280.hp2 HG03130.hp1 others(4): Show HG02129.hp1 HG02280.hp2 HG03130.hp1 HG03688.hp1 HG04115.hp1 NA19012.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0201 others(4): Show a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0213 a0001c0001t0003g0302 a0001c0001t0009g0366	7	374	0.0187	-48	c.481 others(65): Show c.481-2737_481-2690delACCTCCCTCCCGGACAGGGCGGCTGGCC GGCCGGGGGGCTGACCCCCC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73184207	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0216 a0001c0001t0009g0216	1	376	0.0027	-48	c.481 others(65): Show c.481-2639_481-2592delACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73184246	GGGGGGCT others(41): Show GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0224 a0001c0001t0009g0224	1	376	0.0027	-48	c.481 others(65): Show c.481-2601_481-2554delCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGG	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMD13_chr11_231976_257984	249573	GGGGAGAG others(41): Show GGGGAGAGCGGCGGGTGCGGGGAGGGGGAGAGCGGCGGGTGCGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(33): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01109.hp2 HG01257.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02109.hp1 HG02273.hp2 HG02293.hp2 HG02615.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 NA18946.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0003	a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0002g0121 others(24): Show a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0215 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0142 a0001c0001t0003g0147 a0001c0001t0003g0237 a0002c0002t0003g0336	36	448	0.0804	-48	c.774 others(63): Show c.774+524_774+571delCGGCGGGTGCGGGGAGGGGGAGAGCGGCGG GTGCGGGGAGAGGGAGAG	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PSMD3_chr17_39975807_40002959	39984897	TTCCCAGC others(41): Show TTCCCAGCACTTTGGGAGGCTGAGGCGGGCACAGTGGCTAACATCGTCA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03579.hp2 HG02896.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	2	416	0.0048	-48	c.411 others(63): Show c.411+440_411+487delGGCACAGTGGCTAACATCGTCATCCCAGCA CTTTGGGAGGCTGAGGCG	PSMD3	ENSG00000108344.15	transcript	ENST00000264639.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PSPC1_chr13_19697500_19787945	19779867	GTCGGCCC others(41): Show GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0036 a0001c0001t0012g0036	1	256	0.0039	-48	c.372 others(65): Show c.372+2471_372+2518delACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGA	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779872	CCCCCCGC others(41): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	256	0.0039	-48	c.372 others(65): Show c.372+2466_372+2513delCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGG	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19780137	GGGGGGAT others(41): Show GGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	256	0.0039	-48	c.372 others(65): Show c.372+2201_372+2248delACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGATCCCCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PTDSS2_chr11_445279_496399	485741	TGCGCAGG others(41): Show TGCGCAGGCGAGCGTAAACAGTGCACGGGCGCGCGTGTGCTCACCGTGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(91): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18951.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18978.hp1 NA18978.hp2 NA18984.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0004 a0001c0001 a0001c0010 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0010t0002 a0003c0004t0001	a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 others(85): Show a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0195 a0001c0001t0002g0297 a0001c0001t0003g0010 a0001c0001t0003g0037 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0115 a0001c0001t0007g0057 a0001c0001t0007g0062 a0001c0001t0007g0064 a0001c0001t0007g0066 a0001c0001t0009g0034 a0001c0001t0009g0058 a0001c0001t0009g0061 a0001c0001t0016g0107 a0001c0001t0017g0060 a0001c0010t0002g0084 a0003c0004t0001g0176	94	273	0.3443	-48	c.436 others(63): Show c.436-989_436-942delACAGTGCACGGGCGCGCGTGTGCTCACCGT GCGCGCAGGCGAGCGTAA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTGER3_chr1_70965782_71052816	70981356	TTTCTTTC others(41): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	370	0.0027	-48	c.107 others(67): Show c.1078-7016_1078-6969delGGAAGGAAGGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAA	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	2/3			chr1	TogoVar
PTHLH_chr12_27953084_27977733	27961276	CATATATA others(41): Show CATATATATACGTATATATATATACGTATATATATATATATATATACGT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	2	426	0.0047	-48	c.524 others(65): Show c.524+2024_524+2071delACGTATATATATATATATATATACGTAT ATATATATACGTATATATAT	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PTP4A2_chr1_31901421_31943368	31908113	AATATATA others(41): Show AATATATATATATATATATATATTATATTATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG02523.hp1 HG02602.hp1 others(11): Show HG00438.hp1 HG02523.hp1 HG02602.hp1 HG03195.hp1 HG03669.hp2 NA18612.hp1 NA18965.hp1 NA18983.hp2 NA18992.hp1 NA18993.hp2 NA19000.hp2 NA19089.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0166 a0001c0001t0001g0202 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0003g0278	14	298	0.0470	-48	c.69 others(57): Show c.691_*738delATATATATATATATATATATAATATAATATATATAT ATATATATATAT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	691		chr1	TogoVar
PTPRD_chr9_8309246_10618002	9286873	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	4	0.2500	-48	c.-20 others(71): Show c.-202-103558_-202-103511delATATATATATATATATATATAT ATATATATATATATATATATATATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	9/45			chr9	TogoVar
PTPRK_chr6_127963785_128525599	128435074	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGCAGGAAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0047 a0001c0007t0001g0047	1	52	0.0192	-48	c.101 others(67): Show c.101-37434_101-37387delGCCTGCCTTCCTGCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	1/29			chr6	TogoVar
PUDP_chrX_7043920_7153153	7098835	GGGCCAAG others(41): Show GGGCCAAGAGATGCAGGGGAGAGCCGGCCAAGAGATGCAGGGGAGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0085 a0002c0003t0002g0085	1	247	0.0040	-48	c.280 others(65): Show c.280+6737_280+6784delGGCTCTCCCCTGCATCTCTTGGCCGGCT CTCCCCTGCATCTCTTGGCC	PUDP	ENSG00000130021.15	transcript	ENST00000381077.10	protein_coding	2/3			chrX	TogoVar
PXMP2_chr12_132682587_132709985	132693792	AGTTAGCT others(41): Show AGTTAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00735.hp1 others(73): Show HG00438.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18979.hp2 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0002 a0001c0002t0006 a0004c0009t0002 a0001c0002t0002 a0001c0002t0006 a0004c0009t0002	a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0028 others(30): Show a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0036 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0142 a0001c0002t0002g0150 a0001c0002t0006g0002 a0004c0009t0002g0060	76	348	0.2184	-48	c.237 others(65): Show c.237-2091_237-2044delGTTAGCTCCCTTAGCCAGTTAGTTAGTG AGCTCCCTTGCCAGTTAGTT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4			chr12	TogoVar
PXYLP1_chr3_141226825_141299924	141248562	TATATATA others(41): Show TATATATATACACACATGTATATATACACACACGTGTATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03209.hp1 HG02451.hp2 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0267 a0001c0003t0013g0268 a0001c0003t0013g0267 a0001c0003t0013g0268	2	382	0.0052	-48	c.-53 others(67): Show c.-53-11560_-53-11513delATATATATACACACATGTATATATAC ACACACGTGTATATATACACAC	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5			chr3	TogoVar

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