Joint Open Genome and Omics Platform (JoGo)

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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
PAFAH1B2_chr11_117139287_117176045	117172376	ATATATAT others(39): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	432	0.0023	-46	c.46 others(57): Show c.4678_*4723delTATATATATATATATATATATATATATATTTTTT TTTTTTTTTTTT		PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding					1332		chr11	TogoVar
PAG1_chr8_80962810_81117068	81071014	CTCTTTTC others(39): Show CTCTTTTCTTTTTTGGTAAAGTTTAAAAGAGAAAAGAAAGAGCTATT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp1 HG01891.hp1 others(19): Show HG01109.hp1 HG01123.hp1 HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02647.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03579.hp1 HG06807.hp2 NA19043.hp1 NA19240.hp2 NA20905.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0004c0007	a0001c0001t0012 a0001c0001t0035 a0001c0001t0047 others(17): Show a0001c0001t0012 a0001c0001t0035 a0001c0001t0047 a0001c0001t0051 a0001c0001t0074 a0001c0002t0002 a0001c0002t0006 a0001c0002t0032 a0001c0002t0037 a0001c0002t0055 a0001c0002t0060 a0001c0002t0085 a0001c0002t0086 a0001c0003t0003 a0001c0003t0008 a0001c0003t0032 a0001c0004t0003 a0001c0004t0026 a0001c0004t0069 a0004c0007t0013	a0001c0001t0012g0034 a0001c0001t0035g0003 a0001c0001t0047g0035 others(19): Show a0001c0001t0012g0034 a0001c0001t0035g0003 a0001c0001t0047g0035 a0001c0001t0051g0020 a0001c0001t0074g0238 a0001c0002t0002g0012 a0001c0002t0006g0013 a0001c0002t0032g0234 a0001c0002t0037g0004 a0001c0002t0055g0214 a0001c0002t0060g0061 a0001c0002t0085g0246 a0001c0002t0086g0252 a0001c0003t0003g0007 a0001c0003t0003g0033 a0001c0003t0003g0233 a0001c0003t0008g0172 a0001c0003t0032g0235 a0001c0004t0003g0015 a0001c0004t0026g0026 a0001c0004t0069g0071 a0004c0007t0013g0046	22	256	0.0859	-46	c.-23 others(63): Show c.-233-890_-233-845delAATAGCTCTTTCTTTTCTCTTTTAAACT TTACCAAAAAAGAAAAGA		PAG1	ENSG00000076641.4	transcript	ENST00000220597.4	protein_coding	1/8						chr8	TogoVar
PAH_chr12_102831889_102922244	102868130	ATATATAT others(39): Show ATATATATATATATATATATATATACACATATATATACATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01257.hp1 HG02132.hp1 others(7): Show HG00408.hp1 HG01257.hp1 HG02132.hp1 NA18747.hp2 NA18957.hp2 NA18977.hp2 NA18982.hp2 NA19007.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0060 a0001c0002t0001g0063 others(7): Show a0001c0002t0001g0051 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0102 a0001c0002t0001g0108 a0001c0002t0001g0114 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0126	10	312	0.0321	-46	c.442 others(63): Show c.442-1513_442-1468delCACATATATGTATATATATGTGTATATA TATATATATATATATATA		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12						chr12	TogoVar
PAK2_chr3_196734857_196837647	196806643	CTGCTCCT others(39): Show CTGCTCCTCCCGTTATTGCCCCGCGACCGGATCATACGAAATCAGTG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0146 a0003c0005t0001g0146	1	178	0.0056	-46	c.534 others(55): Show c.534_576+3delTGCTCCTCCCGTTATTGCCCCGCGACCGGATCATAC GAAATCAGTG	p.Ala others(5): Show p.Ala179fs	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	6/15	856/6139	534/1575	178/524			chr3	TogoVar
PAK5_chr20_9532370_9844076	9766476	TATATATA others(39): Show TATATATATATTCAAGCAGAATATATATATATATATATTCAAGCAGA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0010 a0001c0013t0010	a0001c0013t0010g0185 a0001c0013t0010g0185	1	208	0.0048	-46	c.-16 others(67): Show c.-161-55087_-161-55042delTCTGCTTGAATATATATATATATA TATTCTGCTTGAATATATATAT		PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9						chr20	TogoVar
PALMD_chr1_99641113_99699535	99683042	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01070.hp1 HG01109.hp2 others(18): Show HG00621.hp1 HG01070.hp1 HG01109.hp2 HG01978.hp2 HG02257.hp1 HG02647.hp1 HG02647.hp2 HG02965.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03669.hp1 HG04184.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19043.hp2 NA19063.hp1 NA19064.hp2 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0118 a0001c0001t0001g0131 others(18): Show a0001c0001t0001g0023 a0001c0001t0001g0118 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0206 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0359	21	380	0.0553	-46	c.252 others(63): Show c.252-3618_252-3573delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAAAGAAAGA		PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAM_chr5_102750305_103034716	102882052	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA20129.hp2 HG02723.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0001 a0001c0001t0003 a0003c0003t0001	a0001c0001t0003g0137 a0003c0003t0001g0040 a0001c0001t0003g0137 a0003c0003t0001g0040	2	188	0.0106	-46	c.210 others(65): Show c.210+14673_210+14718delTATATATATATATATATATATATATA TATATATATATATATATATA		PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
PAQR5_chr15_69293912_69412780	69300891	TTCTTCCT others(39): Show TTCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02257.hp1 NA18969.hp1 HG01433.hp2 HG02257.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0001 a0001c0001t0002 a0001c0001t0022	a0001c0001t0001g0108 a0001c0001t0002g0067 a0001c0001t0022g0049 a0001c0001t0001g0108 a0001c0001t0002g0067 a0001c0001t0022g0049	3	284	0.0106	-46	c.-27 others(65): Show c.-277+1840_-277+1885delCCTTCCTTCCTTCCTTCCTTTCTCTC TCTCTCTCTCTCTCTCTCTT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300902	TTCCTTCC others(39): Show TTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	284	0.0035	-46	c.-27 others(65): Show c.-277+1848_-277+1893delCCTTCCTTCCTTTCTCTCTCTCTCTC TCTCTCTCTCTTTCTTTCCT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300912	CCTTTCTC others(39): Show CCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCCTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	284	0.0035	-46	c.-27 others(65): Show c.-277+1863_-277+1908delCTCTCTCTCTCTCTCTCTCTCTTTCT TTCCTTCTTTCTTTCTTTCT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69382777	CATATATA others(39): Show CATATATATATATATATATATGACCATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(168): 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 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 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.hp2 NA19043.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0003t0011 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(168): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0002g0067 a0001c0001t0002g0094 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0137 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0158 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0197 a0001c0001t0004g0218 a0001c0001t0004g0231 a0001c0001t0004g0269 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0189 a0001c0001t0005g0226 a0001c0001t0008g0092 a0001c0001t0008g0095 a0001c0001t0012g0156 a0001c0001t0013g0113 a0001c0001t0015g0225 a0001c0001t0016g0109 a0001c0001t0017g0053 a0001c0003t0011g0134 a0001c0004t0001g0029 a0001c0004t0001g0254 a0002c0002t0001g0143	171	284	0.6021	-46	c.180 others(63): Show c.180-1878_180-1833delACCATATATATATATATATATATATATA TATATATATATATATATG		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	205376392	AGAGCAGC others(39): Show AGAGCAGCTGGCCCATTACCCACCCCTAGGAAGAATGGCAGATCCTT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02257.hp2 HG00609.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0015t0006 a0001c0001t0002 a0001c0015t0006	a0001c0001t0002g0005 a0001c0015t0006g0024 a0001c0001t0002g0005 a0001c0015t0006g0024	2	54	0.0370	-46	c.263 others(67): Show c.2631-24613_2631-24568delTGGCCCATTACCCACCCCTAGGAA GAATGGCAGATCCTTGAGCAGC		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PARVB_chr22_44019302_44177939	44122516	GAGACAGA others(39): Show GAGACAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGACACAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0137 a0001c0001t0010g0137	1	332	0.0030	-46	c.376 others(63): Show c.376+3380_376+3425delCAGAGAGACAGAGAGAGAGAGAGAGAGA GAGAGACACAGAGACAGA		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44127742	ATTGCCCA others(39): Show ATTGCCCAGAGTGAACCAGCAGGACCCCTGAGGAGTCCCTCTTCTTT	A A	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0311 a0002c0003t0007g0311	1	332	0.0030	-46	c.377 others(63): Show c.377-3742_377-3697delGCCCAGAGTGAACCAGCAGGACCCCTGA GGAGTCCCTCTTCTTTTT		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44167683	TGACAGAG others(39): Show TGACAGAGCCCCGGGTGTGTCCCCAAGCCCGCCGAGCCGAGTTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(111): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02145.hp2 HG02148.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02976.hp2 HG03017.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18941.hp1 NA18959.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18977.hp1 NA18979.hp1 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19065.hp2 NA19067.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0009 a0012 a0015	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0017 a0001c0027 a0001c0030 a0002c0003 a0002c0033 a0002c0034 a0003c0036 a0004c0009 a0004c0023 a0006c0035 a0009c0020 a0012c0011 a0015c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(58): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0042 a0001c0001t0050 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0081 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0022 a0001c0002t0028 a0001c0002t0040 a0001c0002t0044 a0001c0002t0049 a0001c0002t0060 a0001c0002t0084 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0004t0008 a0001c0004t0063 a0001c0005t0001 a0001c0005t0003 a0001c0007t0069 a0001c0008t0002 a0001c0017t0029 a0001c0027t0001 a0001c0030t0041 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0017 a0002c0003t0022 a0002c0003t0028 a0002c0003t0079 a0002c0033t0001 a0002c0034t0002 a0003c0036t0002 a0004c0009t0001 a0004c0023t0011 a0006c0035t0070 a0009c0020t0001 a0012c0011t0031 a0015c0018t0011	a0001c0001t0001g0050 a0001c0001t0001g0150 a0001c0001t0001g0167 others(111): Show a0001c0001t0001g0050 a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0001g0244 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0316 a0001c0001t0002g0015 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0068 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0165 a0001c0001t0002g0198 a0001c0001t0002g0206 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0001t0002g0291 a0001c0001t0002g0310 a0001c0001t0003g0043 a0001c0001t0003g0080 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0144 a0001c0001t0003g0174 a0001c0001t0003g0260 a0001c0001t0003g0328 a0001c0001t0004g0022 a0001c0001t0004g0035 a0001c0001t0004g0064 a0001c0001t0004g0147 a0001c0001t0004g0153 a0001c0001t0004g0208 a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0236 a0001c0001t0004g0241 a0001c0001t0004g0243 a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0269 a0001c0001t0004g0271 a0001c0001t0004g0293 a0001c0001t0004g0300 a0001c0001t0005g0223 a0001c0001t0006g0056 a0001c0001t0014g0196 a0001c0001t0016g0183 a0001c0001t0017g0081 a0001c0001t0017g0237 a0001c0001t0019g0317 a0001c0001t0020g0028 a0001c0001t0020g0294 a0001c0001t0027g0319 a0001c0001t0027g0321 a0001c0001t0042g0186 a0001c0001t0050g0218 a0001c0001t0075g0095 a0001c0001t0076g0261 a0001c0001t0077g0307 a0001c0001t0081g0103 a0001c0002t0001g0011 a0001c0002t0001g0123 a0001c0002t0001g0160 a0001c0002t0004g0173 a0001c0002t0006g0232 a0001c0002t0015g0327 a0001c0002t0017g0278 a0001c0002t0018g0171 a0001c0002t0018g0172 a0001c0002t0019g0111 a0001c0002t0020g0054 a0001c0002t0022g0177 a0001c0002t0028g0332 a0001c0002t0040g0189 a0001c0002t0044g0018 a0001c0002t0049g0065 a0001c0002t0060g0280 a0001c0002t0084g0073 a0001c0004t0001g0097 a0001c0004t0001g0180 a0001c0004t0001g0289 a0001c0004t0003g0287 a0001c0004t0005g0098 a0001c0004t0008g0062 a0001c0004t0063g0213 a0001c0005t0001g0190 a0001c0005t0003g0133 a0001c0007t0069g0094 a0001c0008t0002g0032 a0001c0017t0029g0139 a0001c0027t0001g0030 a0001c0030t0041g0320 a0002c0003t0001g0214 a0002c0003t0003g0031 a0002c0003t0003g0038 a0002c0003t0006g0112 a0002c0003t0017g0242 a0002c0003t0022g0026 a0002c0003t0028g0331 a0002c0003t0079g0044 a0002c0033t0001g0286 a0002c0034t0002g0036 a0003c0036t0002g0195 a0004c0009t0001g0258 a0004c0023t0011g0057 a0006c0035t0070g0162 a0009c0020t0001g0182 a0012c0011t0031g0179 a0015c0018t0011g0288	114	332	0.3434	-46	c.101 others(63): Show c.1019-889_1019-844delGCCGAGCCGAGTTCCCCGACAGAGCCCC GGGTGTGTCCCCAAGCCC		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PATL1_chr11_59631716_59674037	59672320	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATGGTTTTTTTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	276	0.0036	-46	c.-34 others(57): Show c.-3471_-3426delCAAAAAAAACCATATATATATATATATATATATA TATATATATATA		PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding					3284		chr11	TogoVar
PAWR_chr12_79579879_79695964	79613945	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0140 a0001c0003t0003g0140	1	256	0.0039	-46	c.649 others(61): Show c.649-382_649-337delAAAAAAAAAAAATATATATATATATATATA TATATATATATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAWR_chr12_79579879_79695964	79632296	CATATATA others(39): Show CATATATATATACATACATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18994.hp1 NA18968.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0068 a0001c0001t0002g0072	2	256	0.0078	-46	c.517 others(65): Show c.517-11135_517-11090delATATATATATATATATATATATATAT ATATGTATGTATATATATAT		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6						chr12	TogoVar
PAXBP1_chr21_32728899_32776755	32771859	TGAGAGAG others(39): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	360	0.0028	-46	c.-23 others(55): Show c.-237_-192delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC		PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding					105		chr21	TogoVar
PAXBP1_chr21_32728899_32776755	32771903	AGAGAGAG others(39): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01975.hp2 NA18943.hp1 others(1): Show HG01255.hp1 HG01975.hp2 NA18943.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0133 a0001c0001t0001g0149 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0133 a0001c0001t0001g0149 a0001c0001t0005g0142	4	360	0.0111	-46	c.-28 others(55): Show c.-281_-236delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC		PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding					149		chr21	TogoVar
PCBP3_chr21_45638725_45947450	45815584	AGTGAGTG others(39): Show AGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTAGTGAGTGATGAGTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18941.hp1 HG00544.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0123 a0001c0002t0006g0006 a0001c0001t0001g0123 a0001c0002t0006g0006	2	292	0.0069	-46	c.-12 others(67): Show c.-125-34361_-125-34316delTGAGTGAGTGGTGAGTAGTGAGTG ATGAGTGGTGAGTGGTGAGTGA		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45871080	AGTGCAGC others(39): Show AGTGCAGCCCAGTGCCCAGGAGAGATGGGAACCCCCCAGGGAAGGCC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0290 a0001c0003t0014g0291 a0001c0003t0014g0290 a0001c0003t0014g0291	2	292	0.0069	-46	c.10+ others(63): Show c.10+21047_10+21092delCAGGAGAGATGGGAACCCCCCAGGGAAG GCCGTGCAGCCCAGTGCC		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100264150	TATATATA others(39): Show TATATATATGGTATCTGTATATCGTATATATGTGATATCTGTATATC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0118 a0002c0003t0001g0118	1	174	0.0058	-46	c.819 others(63): Show c.819+1326_819+1371delATGGTATCTGTATATCGTATATATGTGA TATCTGTATATCATATAT		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	10/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100264160	GTATCTGT others(39): Show GTATCTGTATATCGTATATATGTGATATCTGTATATCATATATGTGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	174	0.0058	-46	c.819 others(63): Show c.819+1339_819+1384delATCGTATATATGTGATATCTGTATATCA TATATGTGATATCTGTAT		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	10/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH15_chr10_53797771_54806231	54242145	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0029 a0029	a0029c0026 a0029c0026	a0029c0026t0008 a0029c0026t0008	a0029c0026t0008g0081 a0029c0026t0008g0081	1	102	0.0098	-46	c.877 others(63): Show c.877-5260_877-5215delGTGTATATATATATATATATATATATAT ATATATATATATATATAT		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54242145	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0022 a0022	a0022c0033 a0022c0033	a0022c0033t0001 a0022c0033t0001	a0022c0033t0001g0073 a0022c0033t0001g0073	1	94	0.0106	-46	c.877 others(63): Show c.877-5260_877-5215delGTGTATATATATATATATATATATATAT ATATATATATATATATAT		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32						chr10	TogoVar
PDCD6_chr5_266646_319974	284641	GTGCAGCT others(39): Show GTGCAGCTGGAGACCGGGCGGGAGCTGATGTTCCAGTTTGAGGTCCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00733.hp2 others(71): Show HG00140.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18965.hp2 NA18970.hp2 NA18983.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0003t0001 a0002c0003t0007 a0002c0004t0002 a0002c0004t0003 a0003c0005t0004	a0001c0001t0002g0008 a0001c0001t0002g0065 a0001c0001t0002g0066 others(68): Show a0001c0001t0002g0008 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0003g0070 a0001c0001t0003g0310 a0001c0001t0005g0019 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 a0002c0003t0001g0274 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0296 a0002c0003t0001g0297 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0007g0287 a0002c0004t0002g0269 a0002c0004t0003g0265 a0002c0004t0003g0266 a0002c0004t0003g0267 a0002c0004t0003g0268 a0002c0004t0003g0275 a0002c0004t0003g0276 a0002c0004t0003g0279 a0002c0004t0003g0280 a0002c0004t0003g0281 a0002c0004t0003g0282 a0002c0004t0003g0290 a0002c0004t0003g0298 a0003c0005t0004g0020 a0003c0005t0004g0305 a0003c0005t0004g0306 a0003c0005t0004g0307 a0003c0005t0004g0308 a0003c0005t0004g0309	74	360	0.2056	-46	c.163 others(65): Show c.163+11884_163+11929delGGGCGGGAGCTGATGTTCCAGTTTGA GGTCCATGCAGCTGGAGACC		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE6B_chr4_620573_675782	657823	GGGGGCAG others(39): Show GGGGGCAGGTCGTCCAGGGGTCACCCAGGGGTCACGGCTGTGCGGCA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	308	0.0033	-46	c.140 others(63): Show c.1401+363_1401+408delCGGCTGTGCGGCAGGGGCAGGTCGTCCA GGGGTCACCCAGGGGTCA		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFA_chr7_492258_524846	511290	GGTGGGGA others(39): Show GGTGGGGAGAGGGGAACTTAGTCCAGGTGGGGCCAGAGACTGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0265 a0001c0001t0133g0265	1	302	0.0033	-46	c.266 others(61): Show c.266-340_266-295delACCCCCAGTCTCTGGCCCCACCTGGACTAA GTTCCCCTCTCCCCAC		PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5						chr7	TogoVar
PDIA2_chr16_278164_292215	285917	CGCGGTTC others(39): Show CGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0089 a0012c0020t0001g0089	1	436	0.0023	-46	c.111 others(63): Show c.1119+215_1119+260delGCGGTTCTCCCAACCCCAACCCCAACCC CAACCCCAACCCCGCGGT		PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10						chr16	TogoVar
PDXK_chr21_43714129_43767299	43741349	CGGGGGGG others(39): Show CGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18747.hp2 HG02083.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0285 a0001c0001t0001g0292	2	358	0.0056	-46	c.143 others(61): Show c.143-311_143-266delGCTCGCGGGGGGCTGGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD7_chr10_101002679_101036129	101017867	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG02970.hp1 HG02559.hp2 HG02809.hp2 HG02970.hp1	a0002 a0004 a0002 a0004	a0002c0008 a0004c0004 a0002c0008 a0004c0004	a0002c0008t0004 a0004c0004t0004 a0004c0004t0010 a0002c0008t0004 a0004c0004t0004 a0004c0004t0010	a0002c0008t0004g0025 a0004c0004t0004g0030 a0004c0004t0010g0164 a0002c0008t0004g0025 a0004c0004t0004g0030 a0004c0004t0010g0164	3	432	0.0069	-46	c.152 others(63): Show c.1522+186_1522+231delTCTTTCTTTCTTTCTTTCTTTTCTTTCT TTCTTTCTTTCTTTCTTT		PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16						chr10	TogoVar
PDZRN4_chr12_41183320_41579745	41540863	CGTTGTTG others(39): Show CGTTGTTGTTGTTGTTGTTGTTGTTGTTGTCCCTTTTCTTCGTTGTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp2 HG03209.hp1 others(1): Show HG01192.hp2 HG02055.hp2 HG03209.hp1 HG03471.hp1	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0020	a0001c0044 a0004c0009 a0008c0059 others(1): Show a0001c0044 a0004c0009 a0008c0059 a0020c0065	a0001c0044t0001 a0004c0009t0001 a0008c0059t0001 others(1): Show a0001c0044t0001 a0004c0009t0001 a0008c0059t0001 a0020c0065t0001	a0001c0044t0001g0107 a0004c0009t0001g0124 a0008c0059t0001g0160 others(1): Show a0001c0044t0001g0107 a0004c0009t0001g0124 a0008c0059t0001g0160 a0020c0065t0001g0202	4	206	0.0194	-46	c.120 others(67): Show c.1204-11763_1204-11718delCCCTTTTCTTCGTTGTTGTTGTTG TTGTTGTTGTTGTTGTTGTTGT		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PER3_chr1_7779291_7850177	7782289	ACTTCCTC others(39): Show ACTTCCTCACCCGCGGCAGGCGCCTCTCATCTCAGGTTGAAATCCGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03098.hp1 HG02818.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0269 a0002c0002t0001g0270	2	410	0.0049	-46	c.-23 others(57): Show c.-2311_-2266delCTTCCTCACCCGCGGCAGGCGCCTCTCATCTCAG GTTGAAATCCGC		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding					2001		chr1	TogoVar
PGC_chr6_41731711_41752397	41738156	ACATATAT others(39): Show ACATATATATGCATATATATATACATATATATATGCATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02280.hp2 others(3): Show HG01891.hp1 HG01891.hp2 HG02280.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0231 a0001c0002t0001g0090 a0001c0002t0001g0092 others(3): Show a0001c0001t0001g0231 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0126 a0001c0002t0001g0188 a0001c0002t0001g0225	6	464	0.0129	-46	c.916 others(61): Show c.916-374_916-329delCATATATATATGCATATATATATGTATATA TATATGCATATATATG		PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8						chr6	TogoVar
PGM5_chr9_68351611_68536061	68406660	GTATATAT others(39): Show GTATATATATATATATATGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02895.hp2 HG03486.hp2 HG01255.hp2 HG02895.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0208 a0001c0005t0009g0209 a0001c0005t0009g0210 a0001c0005t0009g0208 a0001c0005t0009g0209 a0001c0005t0009g0210	3	246	0.0122	-46	c.104 others(67): Show c.1043+14205_1043+14250delGTATATATATATATATATATATAT ATATATATATATATATATATAT		PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
PGR_chr11_101024624_101134813	101134493	TTTTACAT others(39): Show TTTTACATTTCCACCCAGTATATTAGAGTTCTAATTCTTCCAAAAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0235 a0001c0001t0089g0235	1	254	0.0039	-46	c.-54 others(57): Show c.-5469_-5424delGCTTTTGGAAGAATTAGAACTCTAATATACTGGG TGGAAATGTAAA		PGR	ENSG00000082175.16	transcript	ENST00000325455.10	protein_coding					4681		chr11	TogoVar
PHACTR1_chr6_12711767_13292837	13064560	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	108	0.0093	-46	c.415 others(65): Show c.415+11039_415+11084delATATATATATATATATATATATATAT ATATATATATATCTATATAT		PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13064572	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATCTATATATCTATC	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18983.hp1 NA20300.hp2 HG03540.hp2 NA18983.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0002g0027 a0001c0001t0003g0023 a0001c0003t0001g0054 a0001c0001t0002g0027 a0001c0001t0003g0023 a0001c0003t0001g0054	3	108	0.0278	-46	c.415 others(65): Show c.415+11047_415+11092delATATATATATATATATATATATATAT ATATCTATATATCTATCTAT		PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR2_chr6_143672965_143836185	143771148	ATATATAT others(39): Show ATATATATATGTATATATATATATATGTATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00639.hp1 others(60): Show HG00323.hp1 HG00558.hp1 HG00639.hp1 HG00673.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp1 HG02300.hp2 HG02559.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03834.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18990.hp1 NA18993.hp1 NA19000.hp2 NA19002.hp2 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19068.hp1 NA19076.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0011 a0001 a0005 a0011	a0001c0001 a0001c0003 a0005c0008 others(1): Show a0001c0001 a0001c0003 a0005c0008 a0011c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(41): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0040 a0001c0001t0043 a0001c0001t0085 a0001c0001t0130 a0001c0001t0131 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0012 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015 a0001c0003t0017 a0001c0003t0018 a0001c0003t0021 a0001c0003t0024 a0001c0003t0026 a0001c0003t0028 a0001c0003t0036 a0001c0003t0058 a0001c0003t0059 a0001c0003t0063 a0001c0003t0066 a0001c0003t0080 a0001c0003t0083 a0001c0003t0091 a0001c0003t0097 a0001c0003t0098 a0001c0003t0099 a0001c0003t0106 a0001c0003t0111 a0001c0003t0116 a0001c0003t0119 a0001c0003t0129 a0001c0003t0132 a0001c0003t0135 a0005c0008t0018 a0011c0010t0002	a0001c0001t0001g0061 a0001c0001t0001g0184 a0001c0001t0006g0159 others(60): Show a0001c0001t0001g0061 a0001c0001t0001g0184 a0001c0001t0006g0159 a0001c0001t0013g0169 a0001c0001t0040g0156 a0001c0001t0043g0161 a0001c0001t0085g0183 a0001c0001t0130g0160 a0001c0001t0131g0158 a0001c0003t0001g0045 a0001c0003t0001g0076 a0001c0003t0001g0087 a0001c0003t0001g0113 a0001c0003t0001g0139 a0001c0003t0001g0179 a0001c0003t0001g0195 a0001c0003t0001g0244 a0001c0003t0001g0269 a0001c0003t0002g0044 a0001c0003t0002g0090 a0001c0003t0002g0141 a0001c0003t0003g0292 a0001c0003t0004g0151 a0001c0003t0005g0148 a0001c0003t0006g0137 a0001c0003t0006g0167 a0001c0003t0012g0039 a0001c0003t0012g0082 a0001c0003t0012g0111 a0001c0003t0013g0049 a0001c0003t0013g0102 a0001c0003t0014g0187 a0001c0003t0014g0213 a0001c0003t0014g0247 a0001c0003t0015g0106 a0001c0003t0017g0153 a0001c0003t0017g0241 a0001c0003t0018g0124 a0001c0003t0021g0059 a0001c0003t0024g0047 a0001c0003t0026g0025 a0001c0003t0028g0066 a0001c0003t0028g0236 a0001c0003t0036g0056 a0001c0003t0058g0307 a0001c0003t0059g0015 a0001c0003t0063g0070 a0001c0003t0066g0133 a0001c0003t0080g0011 a0001c0003t0083g0128 a0001c0003t0091g0279 a0001c0003t0097g0174 a0001c0003t0098g0010 a0001c0003t0099g0234 a0001c0003t0106g0251 a0001c0003t0111g0246 a0001c0003t0116g0027 a0001c0003t0119g0075 a0001c0003t0129g0147 a0001c0003t0132g0043 a0001c0003t0135g0131 a0005c0008t0018g0276 a0011c0010t0002g0289	63	310	0.2032	-46	c.123 others(65): Show c.1233-1100_1233-1055delGTATATATATATATATGTATATATAT ATATATGTGTGTATATATAT		PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	GGTGTGTG others(39): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG02258.hp2 HG02280.hp1 others(1): Show HG01517.hp1 HG02258.hp2 HG02280.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0013 a0001c0003t0003 a0001c0001t0001 a0001c0001t0013 a0001c0003t0003	a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0013g0277 others(1): Show a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0013g0277 a0001c0003t0003g0004	4	350	0.0114	-46	c.51 others(57): Show c.5139_*5184delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT		PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding					2447		chr10	TogoVar
PID1_chr2_229018973_229276287	229139023	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	256	0.0039	-46	c.177 others(65): Show c.177+16749_177+16794delTTCTTTCTTTCTCTTTCTTTCTTTCT TTCTCTTTCTTTCTTTCTTT		PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2						chr2	TogoVar
PID1_chr2_229018973_229276287	229139027	GAAAGAAA others(39): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	256	0.0039	-46	c.177 others(65): Show c.177+16745_177+16790delTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTCTTTCTTTCTTT		PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2						chr2	TogoVar
PID1_chr2_229018973_229276287	229139031	GAAAGAAA others(39): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA20905.hp1 HG01106.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0135 a0001c0001t0002g0016 a0001c0001t0002g0135	2	256	0.0078	-46	c.177 others(65): Show c.177+16741_177+16786delTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTCTCTTTCTTT		PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2						chr2	TogoVar
PIEZO2_chr18_10665247_11154569	10720397	GTGTGTGT others(39): Show GTGTGTGTATGTGTATGTGTATGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03453.hp1 HG03041.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0059 a0002c0023 a0001c0059 a0002c0023	a0001c0059t0003 a0002c0023t0002 a0001c0059t0003 a0002c0023t0002	a0001c0059t0003g0110 a0002c0023t0002g0103 a0001c0059t0003g0110 a0002c0023t0002g0103	2	158	0.0127	-46	c.503 others(65): Show c.5030-2184_5030-2139delTATATATATATATATATATATATACA TACACATACACATACACACA		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720401	GTGTATGT others(39): Show GTGTATGTGTATGTGTATGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02976.hp2 HG03471.hp2 HG02622.hp2 HG02976.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0018 a0001c0003 a0002c0018	a0001c0003t0002 a0002c0018t0001 a0002c0018t0002 a0001c0003t0002 a0002c0018t0001 a0002c0018t0002	a0001c0003t0002g0147 a0002c0018t0001g0026 a0002c0018t0002g0068 a0001c0003t0002g0147 a0002c0018t0001g0026 a0002c0018t0002g0068	3	158	0.0190	-46	c.503 others(65): Show c.5030-2188_5030-2143delTATATATATATATATATATATATATA TACATACACATACACATACA		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720403	GTATGTGT others(39): Show GTATGTGTATGTGTATGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0102 a0001c0003t0003g0102	1	158	0.0063	-46	c.503 others(65): Show c.5030-2190_5030-2145delTATATATATATATATATATATATATA TATACATACACATACACATA		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55						chr18	TogoVar
PIGC_chr1_172436457_172449069	172446694	GCCTTTGG others(39): Show GCCTTTGGCAGAGGGTGGAGATCAGGGAGAAGGGTAGGCCTAGAATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	388	0.0026	-46	c.-29 others(57): Show c.-2961_-2916delTATTCTAGGCCTACCCTTCTCCCTGATCTCCACC CTCTGCCAAAGG		PIGC	ENSG00000135845.10	transcript	ENST00000344529.5	protein_coding					2626		chr1	TogoVar
PIGK_chr1_77083989_77224430	77189714	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18989.hp2 NA18990.hp2 NA18943.hp1 NA18989.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224	3	366	0.0082	-46	c.239 others(65): Show c.239+16880_239+16925delGTGTGTGTGTGTATATATATATATAT ATATATATATATATATATAT		PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	3/10						chr1	TogoVar
PIGS_chr17_28548387_28576524	28554895	CCAGAAGC others(39): Show CCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGGTGGCTGTGGCCAGG	C C	frameshift_variant frameshift_variant	HIGH	NA18977.hp1 NA18977.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0014 a0007c0007t0014	a0007c0007t0014g0146 a0007c0007t0014g0146	1	330	0.0030	-46	c.130 others(55): Show c.1302_1347delCCTGGCCACAGCCACCACCACCCTTACCTCCCTGGC GCAGCTTCTG	p.Asn others(5): Show p.Asn434fs	PIGS	ENSG00000087111.22	transcript	ENST00000308360.8	protein_coding	11/12	1375/2529	1302/1668	434/555			chr17	TogoVar

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