Joint Open Genome and Omics Platform (JoGo)

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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
PRAMEF15_chr1_13310581_13327598	13316292	C C	CTGGTGCT others(42): Show CTGGTGCTTGGCCTCTACTTTTTTTTTTTTAAATTAGCCGAGCATGGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02896.hp1 HG03516.hp2 others(1): Show HG02280.hp1 HG02896.hp1 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0022 a0001c0001t0003g0036 a0001c0001t0003g0037	4	302	0.0133	49	c.-17 others(64): Show c.-17+634_-17+635insTGGTGCTTGGCCTCTACTTTTTTTTTTTTA AATTAGCCGAGCATGGTGA	PRAMEF15	ENSG00000204501.7	transcript	ENST00000376152.2	protein_coding	1/3			chr1	TogoVar
PRAMEF15_chr1_13310581_13327598	13325610	A A	AATTTAAA others(42): Show AATTTAAATTATAATTTAATTAATTTTAAAATTTTTAATATATAAAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	302	0.0033	49	c.33 others(60): Show c.3346_*3347insATTTAAATTATAATTTAATTAATTTTAAAATTTT TAATATATAAAAATT	PRAMEF15	ENSG00000204501.7	transcript	ENST00000376152.2	protein_coding		3013		chr1	TogoVar
PRAMEF4_chr1_12874212_12891201	12885509	G G	GTCACCAT others(42): Show GTCACCATGCTCGGCTAATTTAAAAAAAAAAAAGTAGAGGCCAAGCACCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0026 a0026	a0026c0030 a0026c0030	a0026c0030t0014 a0026c0030t0014	a0026c0030t0014g0135 a0026c0030t0014g0135	1	324	0.0031	49	c.-17 others(64): Show c.-17+637_-17+638insTGGTGCTTGGCCTCTACTTTTTTTTTTTTA AATTAGCCGAGCATGGTGA	PRAMEF4	ENSG00000243073.4	transcript	ENST00000235349.6	protein_coding	1/3			chr1	TogoVar
PRAMEF7_chr1_12911610_12925751	12921205	G G	GGGCATCA others(42): Show GGGCATCACTAACCCATGCCTGTCATGGTGGTGTATGAGCAGGAGCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0004 a0006c0005t0001g0004	1	254	0.0039	49	c.79 others(58): Show c.792_*793insGGCATCACTAACCCATGCCTGTCATGGTGGTGTATG AGCAGGAGCCTCA	PRAMEF7	ENSG00000204510.6	transcript	ENST00000697200.1	protein_coding		455		chr1	TogoVar
PRDM16_chr1_3064203_3443621	3165939	A A	ACTCACCT others(42): Show ACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGAACGGAGGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0073 a0001c0004t0073	a0001c0004t0073g0143 a0001c0004t0073g0143	1	210	0.0048	49	c.38- others(66): Show c.38-20179_38-20178insGGGCTCAGGGACAGGGACTCACCTGGGC TCAGGAACGGAGGCCTCACCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3287320	C C	CGCCACGC others(42): Show CGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	210	0.0048	49	c.438 others(68): Show c.438+43230_438+43231insCTGCCACGCGGGCATCCAGGATTGCA TTTACCGGGGCTGGAGCCGCCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3287405	G G	GAGCCGCC others(42): Show GAGCCGCCCCCTGCCACGTGGGCATCCAGGATTGCATTTACCGGGACTGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0055 a0001c0004t0055	a0001c0004t0055g0004 a0001c0004t0055g0004	1	210	0.0048	49	c.438 others(68): Show c.438+43277_438+43278insCTGCCACGTGGGCATCCAGGATTGCA TTTACCGGGACTGCAGCCGCCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151737892	T T	TGGGGCCT others(42): Show TGGGGCCTCCATCCACAGAAGCCAGAGATGCCCAGATCTGCCACTCCCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(34): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp2 HG01884.hp1 HG02486.hp1 HG02735.hp2 HG03098.hp1 HG03130.hp1 HG03239.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 NA18939.hp2 NA18955.hp2 NA18960.hp2 NA18990.hp2 NA19043.hp2 NA19057.hp1 NA19074.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0021 a0001c0001t0028 a0001c0001t0033 a0001c0003t0001 a0001c0003t0003 a0001c0011t0024 a0006c0009t0002	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0057 others(34): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0130 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0002g0019 a0001c0001t0002g0062 a0001c0001t0002g0071 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0129 a0001c0001t0002g0148 a0001c0001t0002g0164 a0001c0001t0002g0177 a0001c0001t0003g0178 a0001c0001t0003g0183 a0001c0001t0003g0193 a0001c0001t0005g0213 a0001c0001t0008g0100 a0001c0001t0012g0220 a0001c0001t0012g0224 a0001c0001t0021g0008 a0001c0001t0028g0210 a0001c0001t0033g0252 a0001c0003t0001g0185 a0001c0003t0003g0106 a0001c0011t0024g0162 a0006c0009t0002g0042	37	252	0.1468	49	c.466 others(68): Show c.466+43211_466+43259dupGTGGGAGTGGCAGATCTGGGCATCTC TGGCTTCTGTGGATGGAGGCCCC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	3/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151738027	G G	GTGCCATT others(42): Show GTGCCATTCACACGGGGCCTCCATCCACAGAAGCCAGAGATGCCCAGATC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG03209.hp2 others(3): Show HG02109.hp1 HG02647.hp2 HG03209.hp2 HG03540.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0141 a0001c0001t0002g0083 a0001c0001t0002g0150 others(3): Show a0001c0001t0001g0141 a0001c0001t0002g0083 a0001c0001t0002g0150 a0001c0001t0005g0227 a0001c0001t0005g0239 a0001c0001t0006g0085	6	252	0.0238	49	c.466 others(68): Show c.466+43124_466+43125insGATCTGGGCATCTCTGGCTTCTGTGG ATGGAGGCCCCGTGTGAATGGCA	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	3/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151738036	C C	CCACGGGG others(42): Show CCACGGGGCCTCCATCCACAGAAGCCAGAGATGCCCAGATGTGCCATTCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp2 HG02280.hp1 others(11): Show HG00735.hp1 HG01243.hp2 HG02280.hp1 HG02572.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03130.hp2 HG03195.hp1 NA18906.hp1 NA20129.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0005c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0019 a0001c0001t0025 a0001c0001t0029 a0001c0002t0007 a0001c0006t0002 a0005c0013t0006	a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0003g0145 others(11): Show a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0003g0145 a0001c0001t0006g0060 a0001c0001t0008g0135 a0001c0001t0008g0136 a0001c0001t0016g0250 a0001c0001t0019g0003 a0001c0001t0025g0125 a0001c0001t0029g0217 a0001c0002t0007g0065 a0001c0002t0007g0179 a0001c0006t0002g0104 a0005c0013t0006g0149	14	252	0.0556	49	c.466 others(68): Show c.466+43115_466+43116insTGAATGGCACATCTGGGCATCTCTGG CTTCTGTGGATGGAGGCCCCGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	3/15			chr7	TogoVar
PRKCB_chr16_23830983_24225611	23982043	C C	CTCTTTCC others(42): Show CTCTTTCCTTTCCCTTTCCCTTTCCATTTCCCTTCCCTTCCCTTCCCCTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03834.hp2 HG02735.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0033 a0001c0015t0030 a0001c0001t0033 a0001c0015t0030	a0001c0001t0033g0060 a0001c0015t0030g0004 a0001c0001t0033g0060 a0001c0015t0030g0004	2	148	0.0135	49	c.206 others(66): Show c.206-6465_206-6464insTCTTTCCTTTCCCTTTCCCTTTCCATTT CCCTTCCCTTCCCTTCCCCTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16			chr16	TogoVar
PRKCB_chr16_23830983_24225611	24021007	T T	TCTTTCTT others(42): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0126 a0001c0001t0022g0126	1	148	0.0068	49	c.289 others(68): Show c.289-11096_289-11095insCCTCCCTCCCTCCCTCCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24108963	G G	GGGCTGGC others(42): Show GGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00639.hp2 others(23): Show HG00423.hp2 HG00609.hp1 HG00639.hp2 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp2 HG02015.hp1 HG02015.hp2 HG02132.hp2 HG02602.hp1 HG03017.hp1 HG03710.hp1 HG03834.hp2 HG06807.hp2 NA18943.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18983.hp2 NA18991.hp1 NA18998.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0015 a0001c0016	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(21): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 a0001c0001t0021 a0001c0001t0036 a0001c0001t0046 a0001c0001t0062 a0001c0001t0081 a0001c0002t0031 a0001c0002t0043 a0001c0002t0084 a0001c0003t0003 a0001c0003t0026 a0001c0003t0057 a0001c0003t0085 a0001c0004t0007 a0001c0005t0005 a0001c0005t0015 a0001c0005t0020 a0001c0008t0016 a0001c0009t0038 a0001c0015t0030 a0001c0016t0004	a0001c0001t0003g0075 a0001c0001t0004g0087 a0001c0001t0004g0106 others(23): Show a0001c0001t0003g0075 a0001c0001t0004g0087 a0001c0001t0004g0106 a0001c0001t0005g0138 a0001c0001t0020g0084 a0001c0001t0021g0006 a0001c0001t0021g0118 a0001c0001t0036g0110 a0001c0001t0046g0029 a0001c0001t0062g0090 a0001c0001t0081g0081 a0001c0002t0031g0121 a0001c0002t0043g0059 a0001c0002t0084g0066 a0001c0003t0003g0086 a0001c0003t0026g0113 a0001c0003t0057g0122 a0001c0003t0085g0073 a0001c0004t0007g0041 a0001c0005t0005g0034 a0001c0005t0015g0038 a0001c0005t0020g0037 a0001c0008t0016g0125 a0001c0009t0038g0056 a0001c0015t0030g0004 a0001c0016t0004g0133	26	148	0.1757	49	c.822 others(66): Show c.822-3993_822-3992insGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGG	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24108975	C C	CAGGGGGC others(42): Show CAGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02896.hp1 others(1): Show HG02559.hp1 HG02559.hp2 HG02896.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0010 a0001c0002 a0001c0005 a0001c0010	a0001c0002t0012 a0001c0005t0013 a0001c0010t0006 others(1): Show a0001c0002t0012 a0001c0005t0013 a0001c0010t0006 a0001c0010t0088	a0001c0002t0012g0145 a0001c0005t0013g0032 a0001c0010t0006g0144 others(1): Show a0001c0002t0012g0145 a0001c0005t0013g0032 a0001c0010t0006g0144 a0001c0010t0088g0099	4	148	0.0270	49	c.822 others(66): Show c.822-3998_822-3997insAGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16			chr16	TogoVar
PRKCB_chr16_23830983_24225611	24108975	C C	CGGGGGGC others(42): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02976.hp2 HG03209.hp2 HG01243.hp1 HG02976.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0019 a0001c0002t0070 a0001c0003t0075 a0001c0001t0019 a0001c0002t0070 a0001c0003t0075	a0001c0001t0019g0102 a0001c0002t0070g0045 a0001c0003t0075g0019 a0001c0001t0019g0102 a0001c0002t0070g0045 a0001c0003t0075g0019	3	148	0.0203	49	c.822 others(66): Show c.822-3993_822-3992insGCTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCAGGTGGGGG	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24108975	C C	CGGGGGGC others(42): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG01346.hp2 others(20): Show HG00738.hp1 HG01109.hp1 HG01346.hp2 HG02109.hp1 HG02145.hp2 HG02615.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03704.hp2 HG04199.hp2 HG06807.hp1 NA18906.hp2 NA18998.hp2 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0001c0018	a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 others(19): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0040 a0001c0001t0041 a0001c0002t0012 a0001c0002t0035 a0001c0002t0083 a0001c0003t0002 a0001c0003t0010 a0001c0003t0024 a0001c0004t0013 a0001c0004t0053 a0001c0004t0077 a0001c0006t0039 a0001c0007t0022 a0001c0007t0054 a0001c0008t0080 a0001c0014t0001 a0001c0018t0008	a0001c0001t0003g0117 a0001c0001t0010g0053 a0001c0001t0011g0112 others(20): Show a0001c0001t0003g0117 a0001c0001t0010g0053 a0001c0001t0011g0112 a0001c0001t0014g0137 a0001c0001t0017g0082 a0001c0001t0040g0018 a0001c0001t0041g0097 a0001c0002t0012g0148 a0001c0002t0035g0139 a0001c0002t0083g0068 a0001c0003t0002g0033 a0001c0003t0010g0103 a0001c0003t0010g0143 a0001c0003t0024g0057 a0001c0004t0013g0044 a0001c0004t0053g0030 a0001c0004t0077g0091 a0001c0006t0039g0025 a0001c0007t0022g0089 a0001c0007t0054g0095 a0001c0008t0080g0058 a0001c0014t0001g0107 a0001c0018t0008g0048	23	148	0.1554	49	c.822 others(66): Show c.822-3993_822-3992insGCTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGTGGGGG	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24109003	C C	CGGACGGG others(42): Show CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCTCCACCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02965.hp1 HG03225.hp2 others(2): Show HG02486.hp2 HG02965.hp1 HG03225.hp2 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0028 a0001c0002t0011 a0001c0003t0071 others(2): Show a0001c0001t0028 a0001c0002t0011 a0001c0003t0071 a0001c0005t0001 a0001c0006t0006	a0001c0001t0028g0051 a0001c0002t0011g0021 a0001c0003t0071g0046 others(2): Show a0001c0001t0028g0051 a0001c0002t0011g0021 a0001c0003t0071g0046 a0001c0005t0001g0013 a0001c0006t0006g0015	5	148	0.0338	49	c.822 others(66): Show c.822-3935_822-3934insTCCACCTCCCTCCTGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24109004	G G	GGATGGGG others(42): Show GGATGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02258.hp2 others(8): Show HG01109.hp2 HG02258.hp1 HG02258.hp2 HG02809.hp1 HG03041.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013	a0001c0001t0019 a0001c0001t0069 a0001c0001t0076 others(7): Show a0001c0001t0019 a0001c0001t0069 a0001c0001t0076 a0001c0002t0012 a0001c0002t0023 a0001c0003t0025 a0001c0003t0064 a0001c0003t0074 a0001c0004t0009 a0001c0013t0048	a0001c0001t0019g0146 a0001c0001t0069g0049 a0001c0001t0076g0100 others(8): Show a0001c0001t0019g0146 a0001c0001t0069g0049 a0001c0001t0076g0100 a0001c0002t0012g0098 a0001c0002t0023g0079 a0001c0003t0025g0016 a0001c0003t0064g0147 a0001c0003t0074g0141 a0001c0004t0009g0026 a0001c0004t0009g0092 a0001c0013t0048g0047	11	148	0.0743	49	c.822 others(66): Show c.822-3967_822-3966insTGGGGCGGCTGGCCAGGTGGGGGGCTGA CCCCCCCACCTCCCTCCAAGA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24109183	C C	CGGGGCGG others(42): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCTCTCCCAGAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0118 a0001c0001t0021g0118	1	148	0.0068	49	c.822 others(66): Show c.822-3773_822-3772insGGGGGGCTGACCCCCCCACCTCTCTCCC AGATGGGGCGGCTGGCCGGGC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2094560	A A	ATGAACCT others(42): Show ATGAACCTTGGGCGCTGCCCGTTCTGAGGCGCCCGCTGTGCCCGGCTCGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02922.hp2 HG03209.hp2 others(2): Show HG02155.hp1 HG02922.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0011 a0001c0001t0001 a0001c0001t0002 a0001c0002t0011	a0001c0001t0001g0003 a0001c0001t0001g0239 a0001c0001t0002g0023 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0239 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0002t0011g0012	5	286	0.0175	49	c.334 others(68): Show c.334+35017_334+35018insTTGAACCTTGGGCGCTGCCCGTTCTG AGGCGCCCGCTGTGCCCGGCTCG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2094579	C C	CGTTCTGA others(42): Show CGTTCTGAGGCGCCCGCTGTGCCCGGCTCGTTGAACCTTGGGCGCTGCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18906.hp1 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0027 a0001c0001t0002g0029	2	286	0.0070	49	c.334 others(68): Show c.334+35017_334+35018insTTGAACCTTGGGCGCTGCCTGTTCTG AGGCGCCCGCTGTGCCCGGCTCG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKX_chrX_3599340_3718649	3639300	G G	GGGGGGTG others(42): Show GGGGGGTGGATGGATGAAGGGTGGGTGGATGGATGATTGAATGAAGGGGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19064.hp2 HG03579.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0111 a0002c0003t0008 a0001c0001t0111 a0002c0003t0008	a0001c0001t0111g0179 a0002c0003t0008g0205 a0001c0001t0111g0179 a0002c0003t0008g0205	2	227	0.0088	49	c.719 others(66): Show c.719+2551_719+2552insACCCCTTCATTCAATCATCCATCCACCC ACCCTTCATCCATCCACCCCC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRORP_chr14_35117552_35282622	35172453	C C	CTTCCTTC others(42): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01099.hp2 HG01256.hp1 others(23): Show HG00609.hp1 HG01099.hp2 HG01256.hp1 HG01358.hp2 HG01975.hp2 HG02056.hp2 HG02129.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18945.hp2 NA18947.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18975.hp1 NA18980.hp2 NA18981.hp2 NA18990.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0024 a0001c0002t0033	a0001c0001t0001g0124 a0001c0001t0010g0047 a0001c0002t0001g0218 others(23): Show a0001c0001t0001g0124 a0001c0001t0010g0047 a0001c0002t0001g0218 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0002g0238 a0001c0002t0024g0226 a0001c0002t0033g0230	26	314	0.0828	49	c.116 others(68): Show c.1168-8214_1168-8213insCTTCCTTCCTTCCTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTTC	PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRPF8_chr17_1645629_1689867	1689507	A A	AGGGGCTG others(42): Show AGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03130.hp2 HG03540.hp2 HG03098.hp2 HG03130.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0014t0001g0100 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0014t0001g0100	3	291	0.0103	49	c.-47 others(60): Show c.-4740_-4739insCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCC	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4641		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689516	C C	CCCCCCCA others(42): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	291	0.0034	49	c.-47 others(60): Show c.-4749_-4748insATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGG	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4650		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689534	G G	GGACGGGG others(42): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	291	0.0034	49	c.-47 others(60): Show c.-4767_-4766insTTGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCG GCCAGCCGCCCCGTC	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4668		chr17	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0108 a0005c0005t0001g0108	1	216	0.0046	49	c.-51 others(66): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRTN3_chr19_835999_853175	844284	C C	CCGCGCCT others(42): Show CCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG03195.hp2 HG02055.hp2 HG02886.hp1 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085	3	415	0.0072	49	c.369 others(64): Show c.369+296_369+297insCTGCGCGCCTCTCCCCCGCCCGCGCCTCTC CCCCGCCCGCGCCTCTCCC	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRTN3_chr19_835999_853175	844370	T T	TGCCTCTC others(42): Show TGCCTCTCCCTTGCCCGCCCCTCTCCCCTGCCCGCGCCTCTCCCCTGCGC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01891.hp2 HG01978.hp2 others(30): Show HG01071.hp2 HG01891.hp2 HG01978.hp2 HG02257.hp2 HG02486.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18980.hp2 NA18992.hp2 NA18995.hp2 NA19055.hp2 NA19077.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0005 a0001c0001 a0002c0002 a0011c0005	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0011c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0066 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0066 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0003g0262 a0002c0002t0001g0074 a0002c0002t0001g0119 a0011c0005t0001g0037	33	415	0.0795	49	c.369 others(64): Show c.369+346_369+394dupTTGCCCGCCCCTCTCCCCTGCCCGCGCCTC TCCCCTGCGCGCCTCTCCC	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRTN3_chr19_835999_853175	844405	G G	GCCTCTCC others(42): Show GCCTCTCCCCTGCGCGCCTCTCCCTTGCCCGCCCCTCTCCCCTGCCGCGC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	415	0.0024	49	c.369 others(64): Show c.369+394_369+395insTTGCCCGCCCCTCTCCCCTGCCGCGCCCTC TCCCCTGCGCGCCTCTCCC	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRXL2B_chr1_2581777_2596468	2592330	G G	GCCCCCCC others(42): Show GCCCCCCCTCCCCTGCCGTGCTGACGCCCCCTCCCCTGCAGCGCTGATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	413	0.0024	49	c.29 others(60): Show c.2903_*2904insCCCCCCCTCCCCTGCCGTGCTGACGCCCCCTCCC CTGCAGCGCTGATGC	PRXL2B	ENSG00000157870.17	transcript	ENST00000419916.8	protein_coding		863		chr1	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	416	0.0024	49	c.870 others(66): Show c.870-1095_870-1094insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSEN1_chr14_73131507_73228691	73184306	C C	CCCCCCAC others(42): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show HG02818.hp1 HG02922.hp2 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0004 a0001c0001t0028	a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0294 others(1): Show a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0294 a0001c0001t0028g0293	4	378	0.0106	49	c.481 others(66): Show c.481-2510_481-2509insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSME4_chr2_53859069_53975993	53940956	T T	TTTAAATA others(42): Show TTTAAATATATATATAATACATATATAAATATATATATATACATATTTAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02129.hp2 NA18945.hp2 others(5): Show HG00423.hp2 HG02129.hp2 NA18945.hp2 NA18961.hp1 NA18968.hp1 NA19062.hp2 NA19072.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0050 a0002c0002t0002g0094 a0002c0002t0002g0103 others(5): Show a0002c0002t0002g0050 a0002c0002t0002g0094 a0002c0002t0002g0103 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0004g0064	8	384	0.0208	49	c.501 others(64): Show c.501-957_501-956insTTAAATATGTATATATATATATTTATATAT GTATTATATATATATTTAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	412	0.0024	49	c.174 others(66): Show c.174+1096_174+1097insATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSPC1_chr13_19697500_19787945	19779527	C C	CGGCCAGC others(42): Show CGGCCAGCCGCCCCATCCCGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00673.hp2 others(33): Show HG00323.hp2 HG00621.hp2 HG00673.hp2 HG01175.hp2 HG01256.hp1 HG01433.hp1 HG01496.hp2 HG02040.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03195.hp1 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 NA18940.hp2 NA18982.hp1 NA18987.hp2 NA18995.hp2 NA19000.hp1 NA19007.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0002t0003	a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 others(32): Show a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0028 a0001c0001t0003g0031 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0008g0013 a0001c0001t0009g0012 a0001c0001t0010g0030 a0001c0001t0012g0033 a0001c0002t0003g0032	36	258	0.1395	49	c.372 others(66): Show c.372+2858_372+2859insATGCGGGGGGCTGACCCCCCCACCTCCC TCCGGGATGGGGCGGCTGGCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779527	C C	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG06807.hp1 NA18522.hp1 others(1): Show HG02717.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 others(1): Show a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0110	4	258	0.0155	49	c.372 others(66): Show c.372+2858_372+2859insATGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779527	C C	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCTGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	258	0.0039	49	c.372 others(66): Show c.372+2858_372+2859insATGCGGGGGGCTGACCCCCCCACCTCCC TCCAGGACGGGGCGGCTGGCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779545	C C	CGGAGGGA others(42): Show CGGAGGGAGGTGGGGGGGTCAGCCCCCCGCATGGCCAGCCGCCCCGTCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18961.hp1 NA18961.hp2 NA18969.hp1 NA18969.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 others(177): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0120 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0007g0138 a0001c0001t0013g0121	180	258	0.6977	49	c.372 others(66): Show c.372+2840_372+2841insCGGACGGGGCGGCTGGCCATGCGGGGGG CTGACCCCCCCACCTCCCTCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779545	C C	CGGAGGGA others(42): Show CGGAGGGAGGTTGGGGGGTCAGCCCCCCGCATGGCCAGCCGCCCCGTCCG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	258	0.0039	49	c.372 others(66): Show c.372+2840_372+2841insCGGACGGGGCGGCTGGCCATGCGGGGGG CTGACCCCCCAACCTCCCTCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779562	G G	GTCAGCCC others(42): Show GTCAGCCCCCCGCATGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	258	0.0039	49	c.372 others(66): Show c.372+2823_372+2824insACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCATGCGGGGGGCTGA	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PTBP1_chr19_792452_817312	800135	T T	TTCGAACA others(42): Show TTCGAACATTGTTGGCCAGGCTGGTCTGGAACACAGGTGATGCACCCCCC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0008 a0008	a0008c0029 a0008c0029	a0008c0029t0015 a0008c0029t0015	a0008c0029t0015g0075 a0008c0029t0015g0075	1	388	0.0026	49	c.39+ others(62): Show c.39+692_39+693insTCGAACATTGTTGGCCAGGCTGGTCTGGAACA CAGGTGATGCACCCCCC	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding	2/14			chr19	TogoVar
PTDSS2_chr11_445279_496399	485862	C C	CGGGCGCG others(42): Show CGGGCGCGCGTGTGCTCACCGTGCGCGCAGGCGAGCGTAAACAGTGCACG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	346	0.0029	49	c.436 others(66): Show c.436-1074_436-1026dupGCGCGCGTGTGCTCACCGTGCGCGCAGG CGAGCGTAAACAGTGCACGGG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPN12_chr7_77532295_77645069	77533807	A A	ACGCCGCC others(42): Show ACGCCGCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGCAGGGGGCTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 NA19082.hp1 HG04199.hp2 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0061 a0002c0002t0001g0044 a0002c0002t0001g0061	2	310	0.0065	49	c.-37 others(60): Show c.-3740_-3739insCGCCGCCACCTCCCTCCCGGACGGGCGGCTGGCC GGGCAGGGGGCTGAC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3487		chr7	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	370	0.0027	49	c.859 others(66): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	370	0.0027	49	c.859 others(66): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTCA others(42): Show AGGGCTCATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01978.hp2 HG02055.hp2 others(2): Show HG01192.hp1 HG01978.hp2 HG02055.hp2 HG02148.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0209 a0001c0001t0002g0224 others(2): Show a0001c0001t0002g0173 a0001c0001t0002g0209 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0231	5	252	0.0198	49	c.139 others(68): Show c.139-18432_139-18431insCATCCCCCCACCTCCCTCCCAGACGG GGCGGCTGGCCAGGCGGGGGGCT	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTCA others(42): Show AGGGCTCATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00639.hp1 others(54): Show HG00323.hp2 HG00544.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01884.hp2 HG02056.hp2 HG02080.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp2 NA18612.hp1 NA18946.hp1 NA18972.hp1 NA18977.hp1 NA19030.hp1 NA19070.hp1 NA19085.hp2 NA20129.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0007 a0005c0010 others(1): Show a0001c0001 a0001c0007 a0005c0010 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0050 a0001c0001t0055 a0001c0001t0056 a0001c0007t0003 a0005c0010t0001 a0007c0009t0005	a0001c0001t0001g0027 a0001c0001t0001g0056 a0001c0001t0001g0095 others(54): Show a0001c0001t0001g0027 a0001c0001t0001g0056 a0001c0001t0001g0095 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0252 a0001c0001t0003g0031 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0142 a0001c0001t0005g0019 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0036 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0009g0114 a0001c0001t0009g0115 a0001c0001t0009g0150 a0001c0001t0009g0151 a0001c0001t0010g0001 a0001c0001t0010g0002 a0001c0001t0010g0003 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0012g0015 a0001c0001t0013g0108 a0001c0001t0013g0145 a0001c0001t0013g0146 a0001c0001t0030g0033 a0001c0001t0032g0006 a0001c0001t0033g0007 a0001c0001t0034g0032 a0001c0001t0036g0034 a0001c0001t0037g0018 a0001c0001t0039g0037 a0001c0001t0040g0107 a0001c0001t0041g0141 a0001c0001t0044g0109 a0001c0001t0050g0120 a0001c0001t0055g0070 a0001c0001t0056g0072 a0001c0007t0003g0106 a0005c0010t0001g0110 a0007c0009t0005g0035	57	252	0.2262	49	c.139 others(68): Show c.139-18432_139-18431insCATCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCAGGCGGGGGGCT	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTCA others(42): Show AGGGCTCATCCCCCCACCTCCCTCCCGGACGTGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0027 a0002c0003t0027	a0002c0003t0027g0026 a0002c0003t0027g0026	1	252	0.0040	49	c.139 others(68): Show c.139-18432_139-18431insCATCCCCCCACCTCCCTCCCGGACGT GGCGGCTGGCCAGGCGGGGGGCT	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN9_chr15_75458251_75584315	75481798	T T	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	326	0.0031	49	c.106 others(68): Show c.1063-1885_1063-1884insGGGGGGCTGACCTCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar

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