Joint Open Genome and Omics Platform (JoGo)

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PAQR5_chr15_69293912_69412780	69322691	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG03139.hp1 others(3): Show HG02615.hp2 HG02809.hp1 HG03139.hp1 HG03225.hp1 HG03516.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0002c0002t0009	a0001c0001t0002g0128 a0001c0001t0005g0048 a0001c0001t0005g0049 others(3): Show a0001c0001t0002g0128 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0006g0253 a0001c0001t0015g0195 a0002c0002t0009g0045	6	221	0.0271	-21	c.-27 others(42): Show c.-276-14590_-276-14570delAGAAGAAGAAGAAGAAGAAGA		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322766	AGAAGAGG others(14): Show AGAAGAGGGAGAAGAAGAAGAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18971.hp2 NA18991.hp1 HG00558.hp2 NA18971.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0100 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0100	3	224	0.0134	-21	c.-27 others(42): Show c.-276-14572_-276-14552delAGAGGGAGAAGAAGAAGACGA		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322772	GGGAGAAG others(14): Show GGGAGAAGAAGAAGACGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02895.hp2 HG03195.hp1 others(2): Show HG02132.hp1 HG02895.hp2 HG03195.hp1 NA18948.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0168 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0168 a0001c0001t0001g0188 a0001c0001t0001g0264	5	230	0.0217	-21	c.-27 others(42): Show c.-276-14567_-276-14547delGAGAAGAAGAAGACGAGGAAG		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69342267	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(151): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0003t0003 a0001c0004t0001 a0002c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(151): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0276 a0001c0001t0001g0284 a0001c0001t0002g0053 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0161 a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0137 a0001c0001t0004g0142 a0001c0001t0004g0150 a0001c0001t0004g0153 a0001c0001t0004g0155 a0001c0001t0004g0158 a0001c0001t0004g0163 a0001c0001t0004g0166 a0001c0001t0004g0177 a0001c0001t0004g0196 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0144 a0001c0001t0005g0169 a0001c0001t0008g0061 a0001c0001t0008g0070 a0001c0001t0012g0152 a0001c0001t0013g0069 a0001c0001t0014g0014 a0001c0001t0015g0195 a0001c0001t0016g0067 a0001c0001t0017g0104 a0001c0001t0021g0241 a0001c0003t0003g0095 a0001c0003t0003g0147 a0001c0004t0001g0019 a0001c0004t0001g0180 a0002c0002t0002g0139	154	161	0.9565	-21	c.-11 others(40): Show c.-116+4790_-116+4810delATTATTATTATTATTATTATT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3_chr10_34104561_34820296	34371512	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG02145.hp2 others(6): Show HG00735.hp2 HG01243.hp2 HG02145.hp2 HG02809.hp1 HG02809.hp2 HG02970.hp2 HG03098.hp2 HG03516.hp1 HG03579.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0019 others(4): Show a0001c0001 a0001c0002 a0001c0019 a0001c0020 a0005c0015 a0005c0016 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0007 a0001c0019t0002 a0001c0020t0002 a0005c0015t0001 a0005c0016t0001 a0006c0009t0011	a0001c0001t0001g0073 a0001c0001t0003g0055 a0001c0001t0004g0019 others(6): Show a0001c0001t0001g0073 a0001c0001t0003g0055 a0001c0001t0004g0019 a0001c0002t0007g0017 a0001c0019t0002g0014 a0001c0020t0002g0001 a0005c0015t0001g0053 a0005c0016t0001g0054 a0006c0009t0011g0047	9	98	0.0918	-21	c.170 others(38): Show c.1707+965_1707+985delGTTTTTTTTTTTTTTTTTTTT		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	12/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34572495	CCAGGTGT others(14): Show CCAGGTGTGGTGGGTGCGCCTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02970.hp1 others(1): Show HG02145.hp1 HG02622.hp2 HG02970.hp1 HG03130.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0008 a0001c0002 a0003c0008	a0001c0002t0009 a0003c0008t0013 a0001c0002t0009 a0003c0008t0013	a0001c0002t0009g0091 a0001c0002t0009g0092 a0001c0002t0009g0096 others(1): Show a0001c0002t0009g0091 a0001c0002t0009g0092 a0001c0002t0009g0096 a0003c0008t0013g0095	4	96	0.0417	-21	c.223 others(40): Show c.223-55357_223-55337delCAGGCGCACCCACCACACCTG		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34681752	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG02622.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0092 a0001c0002t0009g0096 a0001c0002t0009g0092 a0001c0002t0009g0096	2	94	0.0213	-21	c.222 others(40): Show c.222+14545_222+14565delAAAAATATATATATATATATA		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34681762	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0054 a0005c0016t0001g0054	1	90	0.0111	-21	c.222 others(40): Show c.222+14535_222+14555delAAAAAAAAAAAAAAATATATA		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34768354	TAACTCGA others(14): Show TAACTCGAAGCAAAGGCGGGAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp2 HG02451.hp2 others(10): Show HG00741.hp2 HG01071.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02723.hp2 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 others(5): Show a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0003t0002 a0001c0003t0004 a0001c0004t0002 a0001c0004t0007	a0001c0001t0006g0030 a0001c0002t0002g0039 a0001c0002t0004g0029 others(10): Show a0001c0001t0006g0030 a0001c0002t0002g0039 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0007g0031 a0001c0003t0002g0036 a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0038 a0001c0004t0002g0006 a0001c0004t0002g0028 a0001c0004t0007g0037	13	80	0.1625	-21	c.120 others(40): Show c.120+46501_120+46521delGTCCCGCCTTTGCTTCGAGTT		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	1/24						chr10	TogoVar
PARD6A_chr16_67655960_67667774	67663577	AGTTGATG others(14): Show AGTTGATGACCCGAGGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	-21	c.93 others(30): Show c.931_*951delGTTGATGACCCGAGGGCAGAG		PARD6A	ENSG00000102981.10	transcript	ENST00000458121.7	protein_coding					804		chr16	TogoVar
PARD6G_chr18_80152232_80252514	80232641	AACACGTG others(14): Show AACACGTGGGAGTTATGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(109): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02698.hp1 HG02723.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19076.hp1 NA19082.hp1 NA19083.hp2 NA19086.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0030 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0002t0013 a0001c0002t0015 a0001c0002t0029 a0001c0005t0001 a0001c0008t0006	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0184 others(103): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0184 a0001c0001t0001g0288 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0328 a0001c0001t0002g0326 a0001c0001t0004g0260 a0001c0001t0004g0287 a0001c0001t0006g0259 a0001c0001t0030g0267 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0258 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0317 a0001c0002t0001g0319 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0327 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0345 a0001c0002t0001g0346 a0001c0002t0001g0347 a0001c0002t0001g0348 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0002t0001g0355 a0001c0002t0001g0356 a0001c0002t0001g0357 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0363 a0001c0002t0006g0079 a0001c0002t0006g0270 a0001c0002t0006g0271 a0001c0002t0006g0272 a0001c0002t0006g0273 a0001c0002t0006g0274 a0001c0002t0006g0275 a0001c0002t0006g0279 a0001c0002t0006g0280 a0001c0002t0006g0312 a0001c0002t0006g0313 a0001c0002t0006g0314 a0001c0002t0006g0315 a0001c0002t0006g0349 a0001c0002t0006g0350 a0001c0002t0009g0311 a0001c0002t0009g0316 a0001c0002t0009g0318 a0001c0002t0009g0320 a0001c0002t0009g0321 a0001c0002t0011g0011 a0001c0002t0011g0369 a0001c0002t0011g0370 a0001c0002t0013g0012 a0001c0002t0013g0013 a0001c0002t0015g0186 a0001c0002t0015g0187 a0001c0002t0029g0256 a0001c0005t0001g0308 a0001c0008t0006g0261	112	380	0.2947	-21	c.72+ others(38): Show c.72+14615_72+14635delACTCTCATAACTCCCACGTGT		PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	1/2						chr18	TogoVar
PARD6G_chr18_80152232_80252514	80251132	TTCTTTTA others(14): Show TTCTTTTATGATGAGAGCAGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0092 a0001c0001t0022g0092	1	380	0.0026	-21	c.-38 others(32): Show c.-3805_-3785delGCCTGCTCTCATCATAAAAGA		PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding					3619		chr18	TogoVar
PARG_chr10_49813279_49947027	49909823	TAGGGAAA others(14): Show TAGGGAAAGGTAACTTGGTCCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19240.hp1 HG02258.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0190 a0001c0001t0002g0191	2	290	0.0069	-21	c.173 others(40): Show c.1737+6073_1737+6093delGGGACCAAGTTACCTTTCCCT		PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	7/17						chr10	TogoVar
PARK7_chr1_7956711_7990505	7990227	ATCACCAT others(14): Show ATCACCATCACCCTCACCACCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	368	0.0027	-21	c.51 others(32): Show c.5174_*5194delTCACCATCACCCTCACCACCC		PARK7	ENSG00000116288.13	transcript	ENST00000338639.10	protein_coding					4723		chr1	TogoVar
PARL_chr3_183824271_183889880	183882221	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	316	0.0032	-21	c.125 others(38): Show c.125+2480_125+2500delATATATATATATATATATATT		PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9						chr3	TogoVar
PARL_chr3_183824271_183889880	183882223	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02451.hp2 HG02015.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0211 a0001c0001t0001g0191 a0001c0001t0001g0211	2	333	0.0060	-21	c.125 others(38): Show c.125+2478_125+2498delATATATATATATATATATATA		PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9						chr3	TogoVar
PARP12_chr7_140018749_140067951	140035990	GAGGAGGA others(14): Show GAGGAGGAGGAGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0121 a0004c0010t0002g0121	1	353	0.0028	-21	c.132 others(40): Show c.1325-1680_1325-1660delTCTCCTCCTTCTCCTCCTCCT		PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11						chr7	TogoVar
PARP2_chr14_20338635_20362904	20347396	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	315	0.0032	-21	c.324 others(36): Show c.324+485_324+505delATTTTTTTTTTTTTTTTTTTT		PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP4_chr13_24415931_24517778	24474170	CTGGGCCG others(14): Show CTGGGCCGCTGTCTTTCTCTTG	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	360	0.0028	-21	c.191 others(40): Show c.1914+1281_1914+1301delCAAGAGAAAGACAGCGGCCCA		PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	15/33						chr13	TogoVar
PARP8_chr5_50661637_50851519	50719330	ATATAATC others(14): Show ATATAATCCCATTTATTCACTT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0108 a0001c0002t0003g0108	1	326	0.0031	-21	c.147 others(40): Show c.147-30819_147-30799delATAATCCCATTTATTCACTTT		PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
PASD1_chrX_151558675_151681739	151672214	AGGAGCAG others(14): Show AGGAGCAGCAGCGGCAGCTGCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp1 HG01069.hp1 HG01071.hp1 others(1): Show HG00738.hp1 HG01069.hp1 HG01071.hp1 HG02602.hp1	a0003 a0003	a0003c0012 a0003c0018 a0003c0020 a0003c0012 a0003c0018 a0003c0020	a0003c0012t0002 a0003c0018t0001 a0003c0020t0003 a0003c0012t0002 a0003c0018t0001 a0003c0020t0003	a0003c0012t0002g0005 a0003c0012t0002g0024 a0003c0018t0001g0220 others(1): Show a0003c0012t0002g0005 a0003c0012t0002g0024 a0003c0018t0001g0220 a0003c0020t0003g0006	4	219	0.0183	-21	c.147 others(30): Show c.1478_1498delAGCGGCAGCTGCGGGAGCAGC	p.Gln others(13): Show p.Gln493_Gln499del	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	14/16	1670/3110	1478/2322	493/773		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASK_chr2_241101099_241154472	241148962	GGCGGCGC others(14): Show GGCGGCGCGCGCCCCCGACCCC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00597.hp2 others(77): Show HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01109.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02809.hp2 HG03017.hp2 HG03130.hp2 HG03654.hp2 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0015 a0018 a0026	a0001c0002 a0001c0015 a0001c0023 others(7): Show a0001c0002 a0001c0015 a0001c0023 a0003c0003 a0003c0008 a0004c0004 a0004c0030 a0015c0044 a0018c0054 a0026c0070	a0001c0002t0001 a0001c0015t0002 a0001c0023t0001 others(7): Show a0001c0002t0001 a0001c0015t0002 a0001c0023t0001 a0003c0003t0002 a0003c0008t0001 a0004c0004t0001 a0004c0030t0010 a0015c0044t0001 a0018c0054t0001 a0026c0070t0001	a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0019 others(62): Show a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0001g0210 a0001c0002t0001g0213 a0001c0015t0002g0167 a0001c0023t0001g0184 a0001c0023t0001g0185 a0001c0023t0001g0191 a0003c0003t0002g0168 a0003c0008t0001g0020 a0003c0008t0001g0021 a0003c0008t0001g0173 a0003c0008t0001g0174 a0003c0008t0001g0181 a0003c0008t0001g0189 a0003c0008t0001g0193 a0003c0008t0001g0217 a0004c0004t0001g0008 a0004c0004t0001g0025 a0004c0004t0001g0179 a0004c0004t0001g0187 a0004c0004t0001g0200 a0004c0004t0001g0202 a0004c0004t0001g0204 a0004c0004t0001g0205 a0004c0004t0001g0206 a0004c0004t0001g0207 a0004c0004t0001g0208 a0004c0004t0001g0209 a0004c0004t0001g0211 a0004c0004t0001g0212 a0004c0004t0001g0214 a0004c0004t0001g0215 a0004c0004t0001g0216 a0004c0004t0001g0218 a0004c0030t0010g0169 a0004c0030t0010g0172 a0015c0044t0001g0171 a0018c0054t0001g0170 a0026c0070t0001g0199	80	374	0.2139	-21	c.-43 others(36): Show c.-43+431_-43+451delGGGGTCGGGGGCGCGCGCCGC		PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	1/17						chr2	TogoVar
PATJ_chr1_61737480_62168915	61997804	TGTTTTGT others(14): Show TGTTTTGTTTTGTTTTGTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp1 HG01192.hp1 others(17): Show HG00735.hp2 HG01070.hp1 HG01192.hp1 HG01496.hp1 HG01891.hp1 HG01975.hp2 HG02559.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03486.hp1 HG03486.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp2	a0001 a0008 a0009 others(10): Show a0001 a0008 a0009 a0012 a0020 a0021 a0034 a0039 a0046 a0049 a0050 a0053 a0060	a0001c0001 a0001c0008 a0001c0022 others(16): Show a0001c0001 a0001c0008 a0001c0022 a0001c0046 a0008c0040 a0008c0113 a0009c0054 a0012c0005 a0012c0023 a0012c0025 a0020c0128 a0021c0033 a0034c0109 a0039c0108 a0046c0035 a0049c0027 a0050c0085 a0053c0065 a0060c0103	a0001c0001t0003 a0001c0008t0013 a0001c0022t0020 others(17): Show a0001c0001t0003 a0001c0008t0013 a0001c0022t0020 a0001c0046t0013 a0008c0040t0009 a0008c0113t0001 a0009c0054t0001 a0012c0005t0002 a0012c0005t0012 a0012c0023t0007 a0012c0025t0002 a0020c0128t0002 a0021c0033t0003 a0034c0109t0002 a0039c0108t0002 a0046c0035t0009 a0049c0027t0012 a0050c0085t0007 a0053c0065t0003 a0060c0103t0016	a0001c0001t0003g0151 a0001c0008t0013g0100 a0001c0022t0020g0068 others(17): Show a0001c0001t0003g0151 a0001c0008t0013g0100 a0001c0022t0020g0068 a0001c0046t0013g0063 a0008c0040t0009g0115 a0008c0113t0001g0108 a0009c0054t0001g0119 a0012c0005t0002g0121 a0012c0005t0012g0064 a0012c0023t0007g0024 a0012c0025t0002g0140 a0020c0128t0002g0021 a0021c0033t0003g0080 a0034c0109t0002g0125 a0039c0108t0002g0124 a0046c0035t0009g0077 a0049c0027t0012g0144 a0050c0085t0007g0042 a0053c0065t0003g0096 a0060c0103t0016g0026	20	156	0.1282	-21	c.386 others(40): Show c.3867+7441_3867+7461delGTTTTGTTTTGTTTTGTTTTA		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	28/43						chr1	TogoVar
PAWR_chr12_79579879_79695964	79613967	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	252	0.0040	-21	c.649 others(36): Show c.649-379_649-359delAAAAAAAAATATATATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAX3_chr2_222194887_222303998	222260570	TTTTTTTT others(14): Show TTTTTTTTGTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	326	0.0031	-21	c.587 others(40): Show c.587-28308_587-28288delCAAAAAAAAAAAACAAAAAAA		PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8						chr2	TogoVar
PAX6_chr11_31784026_31816322	31794404	AACACACA others(14): Show AACACACACACACACACCACAC	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18987.hp1 HG03831.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0162 a0001c0001t0002g0113 a0001c0001t0002g0162	2	373	0.0054	-21	c.724 others(36): Show c.724+205_724+225delGTGTGGTGTGTGTGTGTGTGT		PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding	9/13						chr11	TogoVar
PBRM1_chr3_52540367_52690913	52596436	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00544.hp1 others(88): Show HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01169.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG02818.hp1 HG03130.hp1 HG03209.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp2 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18957.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18999.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA20752.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0010 a0001c0001 a0001c0002 a0005c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0018 a0005c0010t0001	a0001c0001t0001g0284 a0001c0002t0001g0113 a0001c0002t0001g0117 others(88): Show a0001c0001t0001g0284 a0001c0002t0001g0113 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0253 a0001c0002t0001g0263 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0144 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0176 a0001c0002t0009g0299 a0001c0002t0018g0211 a0005c0010t0001g0118	91	123	0.7398	-21	c.282 others(40): Show c.2824+7064_2824+7084delTTTTTTTTTTTTTTTTTTTTT		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	19/31						chr3	TogoVar
PBX3_chr9_125742373_125972377	125835015	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	40	0.0250	-21	c.275 others(40): Show c.275-80655_275-80635delAAAAAAAAAAAAAAAAAAAAA		PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125943352	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02897.hp1 HG03209.hp1 others(2): Show HG02647.hp1 HG02897.hp1 HG03209.hp1 NA19001.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0173 others(2): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0173 a0001c0001t0001g0236 a0001c0001t0001g0276	5	9	0.5556	-21	c.843 others(38): Show c.843+7772_843+7792delAAAAAAAAAAAAAAAAAAAAA		PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX4_chr19_19556713_19623687	19556747	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	78	0.0128	-21	c.52 others(32): Show c.5257_*5277delTTTTTTTTTTTTTTTTTTTTT		PBX4	ENSG00000105717.14	transcript	ENST00000251203.14	protein_coding					4965		chr19	TogoVar
PCBP3_chr21_45638725_45947450	45815333	AGTGAGTG others(14): Show AGTGAGTGGTGAGTGATGAGTG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0003 a0001c0002t0004g0003	1	290	0.0034	-21	c.-12 others(42): Show c.-125-34606_-125-34586delGTGAGTGGTGAGTGATGAGTG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45822679	GGGGACAG others(14): Show GGGGACAGGGTTAGGAGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0265 a0001c0001t0018g0265	1	290	0.0034	-21	c.-12 others(42): Show c.-125-27267_-125-27247delAGAGTGAGGGACAGGGTTAGG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100422062	CTCTTTTC others(14): Show CTCTTTTCTTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	160	0.0063	-21	c.174 others(40): Show c.1747-3569_1747-3549delCTTTTCTTTTCTTTCTTTCTT		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100440189	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	168	0.0060	-21	c.184 others(40): Show c.1846-9061_1846-9041delTATATATATATATATATATAA		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	20/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100488623	TTTTTGTT others(14): Show TTTTTGTTTTGTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01884.hp2 HG02055.hp1 others(21): Show HG00621.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp2 HG02486.hp2 HG02572.hp2 HG02735.hp2 HG02818.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG03654.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp2 NA18999.hp2 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0005c0006 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001 a0005c0006t0001 a0007c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0036 a0001c0001t0001g0037 others(21): Show a0001c0001t0001g0006 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0002g0005 a0001c0001t0003g0062 a0001c0002t0001g0082 a0002c0003t0001g0118 a0005c0006t0001g0167 a0007c0007t0001g0168	24	172	0.1395	-21	c.190 others(42): Show c.1900-26799_1900-26779delGTTTTGTTTTTTTTTTGTTTT		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH11X_chrX_91774375_92628230	91985150	GTTTTCTG others(14): Show GTTTTCTGGTTATTTTTCCATA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0149 a0001c0003t0002g0149	1	154	0.0065	-21	c.303 others(44): Show c.3033+105880_3033+105900delTTCTGGTTATTTTTCCATATT		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92072340	ACTGCTTT others(14): Show ACTGCTTTTCTCAAGCAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	154	0.0065	-21	c.303 others(44): Show c.3034-129034_3034-129014delCTGCTTTTCTCAAGCAGAAGG		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10						chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92499636	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	2	0.5000	-21	c.336 others(42): Show c.3367+31339_3367+31359delAAAAAAAAAAAAAAAAAAAAA		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5393657	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp1 HG02071.hp1 others(8): Show HG00609.hp1 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02135.hp1 NA18945.hp1 NA18959.hp1 NA18982.hp1 NA18984.hp1 NA19085.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0033 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0062	11	20	0.5500	-21	c.285 others(44): Show c.2854-107372_2854-107352delAAAAAAAAAAAAAAAAAAAAA		PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH15_chr10_53797771_54806231	53888681	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0012 a0010c0009t0012	a0010c0009t0012g0046 a0010c0009t0012g0046	1	100	0.0100	-21	c.350 others(42): Show c.3501+14541_3501+14561delATATATATATATATATATATA		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37						chr10	TogoVar
PCDH15_chr10_53797771_54806231	54345801	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03579.hp1 HG02615.hp2 HG03579.hp1	a0001 a0033 a0001 a0033	a0001c0001 a0033c0037 a0001c0001 a0033c0037	a0001c0001t0008 a0033c0037t0013 a0001c0001t0008 a0033c0037t0013	a0001c0001t0008g0003 a0033c0037t0013g0064 a0001c0001t0008g0003 a0033c0037t0013g0064	2	23	0.0870	-21	c.594 others(36): Show c.594+543_594+563delTTTTTTTTTTTTTTTTTTTTT		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37						chr10	TogoVar
PCDH15_chr10_53797771_54806231	54774007	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01167.hp1 others(18): Show HG00738.hp2 HG00741.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG02109.hp2 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG03139.hp1 HG03225.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA20129.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0014 a0015 a0016 a0025 a0029	a0001c0001 a0002c0002 a0002c0021 others(10): Show a0001c0001 a0002c0002 a0002c0021 a0003c0003 a0004c0004 a0005c0005 a0007c0032 a0010c0009 a0014c0033 a0015c0023 a0016c0020 a0025c0027 a0029c0026	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 others(16): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0024 a0002c0002t0027 a0002c0021t0021 a0003c0003t0001 a0004c0004t0005 a0005c0005t0005 a0007c0032t0001 a0010c0009t0011 a0014c0033t0017 a0015c0023t0026 a0016c0020t0007 a0025c0027t0001 a0029c0026t0008	a0001c0001t0001g0022 a0002c0002t0002g0036 a0002c0002t0004g0040 others(18): Show a0001c0001t0001g0022 a0002c0002t0002g0036 a0002c0002t0004g0040 a0002c0002t0004g0077 a0002c0002t0005g0015 a0002c0002t0007g0032 a0002c0002t0008g0017 a0002c0002t0024g0066 a0002c0002t0027g0063 a0002c0021t0021g0047 a0003c0003t0001g0018 a0004c0004t0005g0027 a0004c0004t0005g0028 a0005c0005t0005g0033 a0007c0032t0001g0021 a0010c0009t0011g0078 a0014c0033t0017g0030 a0015c0023t0026g0081 a0016c0020t0007g0083 a0025c0027t0001g0080 a0029c0026t0008g0082	21	26	0.8077	-21	c.-29 others(40): Show c.-29+26897_-29+26917delAAAAAAAAAAAAAAAAAAAAA		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37						chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888681	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0008 a0019c0026t0008	a0019c0026t0008g0043 a0019c0026t0008g0043	1	92	0.0109	-21	c.350 others(42): Show c.3501+14541_3501+14561delATATATATATATATATATATA		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54345801	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03579.hp1 HG02615.hp2 HG03579.hp1	a0001 a0027 a0001 a0027	a0001c0001 a0027c0042 a0001c0001 a0027c0042	a0001c0001t0001 a0027c0042t0004 a0001c0001t0001 a0027c0042t0004	a0001c0001t0001g0003 a0027c0042t0004g0060 a0001c0001t0001g0003 a0027c0042t0004g0060	2	23	0.0870	-21	c.594 others(36): Show c.594+543_594+563delTTTTTTTTTTTTTTTTTTTTT		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54774007	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01175.hp1 others(13): Show HG00738.hp1 HG00741.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02965.hp1 HG03139.hp1 HG03225.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0015 a0022 a0031	a0001c0001 a0002c0002 a0002c0006 others(7): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003 a0003c0005 a0004c0004 a0005c0009 a0015c0027 a0022c0032 a0031c0029	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(10): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0006t0001 a0002c0006t0005 a0003c0003t0001 a0003c0005t0001 a0004c0004t0001 a0005c0009t0001 a0015c0027t0001 a0022c0032t0001 a0031c0029t0001	a0001c0001t0001g0021 a0002c0002t0001g0033 a0002c0002t0001g0061 others(13): Show a0001c0001t0001g0021 a0002c0002t0001g0033 a0002c0002t0001g0061 a0002c0002t0002g0017 a0002c0002t0002g0037 a0002c0002t0002g0071 a0002c0002t0010g0059 a0002c0006t0001g0015 a0002c0006t0005g0073 a0003c0003t0001g0018 a0003c0005t0001g0075 a0004c0004t0001g0026 a0005c0009t0001g0030 a0015c0027t0001g0044 a0022c0032t0001g0074 a0031c0029t0001g0029	16	21	0.7619	-21	c.-29 others(40): Show c.-29+26897_-29+26917delAAAAAAAAAAAAAAAAAAAAA		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32						chr10	TogoVar
PCDH7_chr4_30715369_31151800	30894479	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0178 a0001c0001t0011g0178	1	206	0.0049	-21	c.317 others(42): Show c.3175-25672_3175-25652delAAAAAAAAAAATATATATATA		PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	31097614	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0032 a0001c0005t0021 a0001c0001t0032 a0001c0005t0021	a0001c0001t0032g0067 a0001c0005t0021g0102 a0001c0001t0032g0067 a0001c0005t0021g0102	2	214	0.0093	-21	c.339 others(42): Show c.3392-44858_3392-44838delTATATATATATATATATATAT		PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2						chr4	TogoVar
PCDH7_chr4_30715369_31151800	31108369	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19030.hp1 HG02055.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0004 a0001c0006t0007 a0001c0002t0004 a0001c0006t0007	a0001c0002t0004g0153 a0001c0006t0007g0210 a0001c0002t0004g0153 a0001c0006t0007g0210	2	20	0.1000	-21	c.339 others(42): Show c.3392-34084_3392-34064delAAAAAAAAAAAAAAAAAAAAA		PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH9_chr13_66297834_67235336	66811606	TCTGCCTG others(14): Show TCTGCCTGCCTAACCTGCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01884.hp1 HG03041.hp2 others(2): Show HG01175.hp2 HG01884.hp1 HG03041.hp2 HG03195.hp2 HG03540.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0004c0016 a0006c0009	a0001c0001t0006 a0001c0002t0009 a0001c0015t0001 others(2): Show a0001c0001t0006 a0001c0002t0009 a0001c0015t0001 a0004c0016t0001 a0006c0009t0002	a0001c0001t0006g0063 a0001c0002t0009g0014 a0001c0015t0001g0048 others(2): Show a0001c0001t0006g0063 a0001c0002t0009g0014 a0001c0015t0001g0048 a0004c0016t0001g0049 a0006c0009t0002g0003	5	76	0.0658	-21	c.313 others(42): Show c.3138+91877_3138+91897delGAAGGCAGGTTAGGCAGGCAG		PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	3/4						chr13	TogoVar
PCDHA10_chr5_140850897_141017347	140924895	AAAAAAAA others(14): Show AAAAAAAAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02257.hp2 HG01978.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0207 a0001c0001t0001g0208	2	164	0.0122	-21	c.238 others(42): Show c.2389-54049_2389-54029delAAAAAATAAAATAAAATAAAA		PCDHA10	ENSG00000250120.8	transcript	ENST00000307360.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar

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