Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCLO_chr7_82749012_83167884	83078519	C C	CATTATTA others(8): Show CATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG02486.hp1 others(7): Show HG01081.hp2 HG01243.hp1 HG02486.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03453.hp2 NA19043.hp1 NA20129.hp2	a0001 a0018 a0019 others(5): Show a0001 a0018 a0019 a0034 a0038 a0039 a0040 a0043	a0001c0001 a0018c0034 a0019c0079 others(6): Show a0001c0001 a0018c0034 a0019c0079 a0019c0098 a0034c0049 a0038c0046 a0039c0047 a0040c0045 a0043c0035	a0001c0001t0005 a0018c0034t0005 a0019c0079t0002 others(6): Show a0001c0001t0005 a0018c0034t0005 a0019c0079t0002 a0019c0098t0002 a0034c0049t0002 a0038c0046t0010 a0039c0047t0011 a0040c0045t0008 a0043c0035t0002	a0001c0001t0005g0109 a0001c0001t0005g0125 a0018c0034t0005g0059 others(7): Show a0001c0001t0005g0109 a0001c0001t0005g0125 a0018c0034t0005g0059 a0019c0079t0002g0114 a0019c0098t0002g0082 a0034c0049t0002g0061 a0038c0046t0010g0039 a0039c0047t0011g0036 a0040c0045t0008g0080 a0043c0035t0002g0058	10	188	0.0532	15	c.330 others(36): Show c.3300+55730_3300+55731insAATAATAATAATAAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83093492	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19068.hp1 HG02055.hp1 NA19068.hp1	a0002 a0006 a0002 a0006	a0002c0004 a0006c0044 a0002c0004 a0006c0044	a0002c0004t0007 a0006c0044t0016 a0002c0004t0007 a0006c0044t0016	a0002c0004t0007g0097 a0006c0044t0016g0038 a0002c0004t0007g0097 a0006c0044t0016g0038	2	188	0.0106	15	c.330 others(36): Show c.3300+40743_3300+40757dupAAAAAAAAAAAAAAA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83096990	A A	ATATAATA others(8): Show ATATAATATAATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG01123.hp1 others(19): Show HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01884.hp2 HG02109.hp2 HG02486.hp1 HG02809.hp2 HG03139.hp1 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp2 NA20752.hp1	a0001 a0003 a0014 others(15): Show a0001 a0003 a0014 a0019 a0020 a0024 a0025 a0026 a0029 a0034 a0036 a0038 a0039 a0040 a0043 a0044 a0066 a0072	a0001c0001 a0003c0092 a0014c0013 others(17): Show a0001c0001 a0003c0092 a0014c0013 a0019c0079 a0019c0098 a0020c0072 a0020c0111 a0024c0025 a0025c0012 a0026c0112 a0029c0086 a0034c0049 a0036c0039 a0038c0046 a0039c0047 a0040c0045 a0043c0035 a0044c0078 a0066c0105 a0072c0032	a0001c0001t0001 a0003c0092t0012 a0014c0013t0012 others(17): Show a0001c0001t0001 a0003c0092t0012 a0014c0013t0012 a0019c0079t0002 a0019c0098t0002 a0020c0072t0002 a0020c0111t0030 a0024c0025t0009 a0025c0012t0001 a0026c0112t0002 a0029c0086t0001 a0034c0049t0002 a0036c0039t0008 a0038c0046t0010 a0039c0047t0011 a0040c0045t0008 a0043c0035t0002 a0044c0078t0002 a0066c0105t0012 a0072c0032t0004	a0001c0001t0001g0148 a0003c0092t0012g0161 a0014c0013t0012g0037 others(19): Show a0001c0001t0001g0148 a0003c0092t0012g0161 a0014c0013t0012g0037 a0014c0013t0012g0040 a0019c0079t0002g0114 a0019c0098t0002g0082 a0020c0072t0002g0023 a0020c0111t0030g0152 a0024c0025t0009g0063 a0025c0012t0001g0154 a0025c0012t0001g0155 a0026c0112t0002g0147 a0029c0086t0001g0157 a0034c0049t0002g0061 a0036c0039t0008g0079 a0038c0046t0010g0039 a0039c0047t0011g0036 a0040c0045t0008g0080 a0043c0035t0002g0058 a0044c0078t0002g0136 a0066c0105t0012g0067 a0072c0032t0004g0177	22	188	0.1170	15	c.330 others(36): Show c.3300+37259_3300+37260insATATATTATATTATA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCMT1_chr6_149744741_149816419	149758208	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00558.hp1 others(58): Show HG00140.hp2 HG00423.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01168.hp2 HG01175.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01952.hp1 HG02056.hp2 HG02074.hp2 HG02135.hp1 HG02273.hp2 HG02615.hp1 HG02622.hp1 HG02735.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03491.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG04184.hp2 NA18747.hp2 NA18945.hp1 NA18951.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18972.hp1 NA18972.hp2 NA18980.hp1 NA18985.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19007.hp2 NA19011.hp2 NA19054.hp2 NA19060.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0157 a0001c0001t0001g0158 others(58): Show a0001c0001t0001g0003 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0327 a0001c0001t0001g0328	61	334	0.1826	15	c.55+ others(30): Show c.55+8256_55+8270dupTTTTTTTTTTTTTTT	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCMT1_chr6_149744741_149816419	149758226	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	334	0.0030	15	c.55+ others(30): Show c.55+8270_55+8271insTTTTTTTTTTTTTTC	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7			chr6	TogoVar
PCMT1_chr6_149744741_149816419	149762689	T T	TATATATA others(8): Show TATATATATATCTATG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02572.hp2 NA18951.hp1 others(1): Show HG00733.hp2 HG02572.hp2 NA18951.hp1 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0064 a0002c0002t0002g0082 others(1): Show a0002c0002t0002g0040 a0002c0002t0002g0064 a0002c0002t0002g0082 a0002c0002t0002g0084	4	334	0.0120	15	c.56- others(30): Show c.56-8432_56-8418dupCTATGATATATATAT	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCMTD2_chr20_64250748_64281226	64255723	A A	AGGCGGCG others(8): Show AGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG04184.hp1 NA20905.hp1 HG01928.hp1 HG04184.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0003g0068 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0003g0068	3	332	0.0090	15	c.-17 others(24): Show c.-172_-171insGGCGGCGGCGGCGGC	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding		24		chr20	TogoVar
PCNP_chr3_101569180_101599465	101595787	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	424	0.0024	15	c.30 others(26): Show c.3034_*3035insTTTTTTTTTTTTTTT	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding		1323		chr3	TogoVar
PCNT_chr21_46319156_46450769	46359480	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03710.hp2 NA18969.hp2 HG02717.hp2 HG03710.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0019t0001 a0001c0001t0001 a0001c0019t0001	a0001c0001t0001g0238 a0001c0001t0001g0307 a0001c0019t0001g0260 a0001c0001t0001g0238 a0001c0001t0001g0307 a0001c0019t0001g0260	3	332	0.0090	15	c.215 others(34): Show c.2154+2299_2154+2300insTTTTTTTTTTTTTTT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	13/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46359491	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02683.hp1 HG03209.hp1 others(1): Show HG01069.hp2 HG02683.hp1 HG03209.hp1 NA20752.hp2	a0011 a0067 a0011 a0067	a0011c0011 a0067c0087 a0011c0011 a0067c0087	a0011c0011t0001 a0067c0087t0001 a0011c0011t0001 a0067c0087t0001	a0011c0011t0001g0074 a0011c0011t0001g0075 a0011c0011t0001g0076 others(1): Show a0011c0011t0001g0074 a0011c0011t0001g0075 a0011c0011t0001g0076 a0067c0087t0001g0080	4	332	0.0121	15	c.215 others(34): Show c.2154+2302_2154+2316dupTTTTTTTTTTTTTTT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	13/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNX1_chr14_70902459_71120382	70908155	A A	ACTCCTCT others(8): Show ACTCCTCTCTTCGGGG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0002 a0001c0002t0025g0002	1	352	0.0028	15	c.153 others(30): Show c.153+155_153+169dupCCTCTCTTCGGGGCT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910067	T T	TCCTCCCC others(8): Show TCCTCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0162 a0001c0001t0010g0162	1	352	0.0028	15	c.153 others(32): Show c.153+2069_153+2070insCCCTCCTCCCCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910097	C C	CCCTCCTC others(8): Show CCCTCCTCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02280.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0316 a0001c0002t0019g0323 a0001c0002t0019g0316 a0001c0002t0019g0323	2	352	0.0057	15	c.153 others(32): Show c.153+2127_153+2141dupTCCTCCTCCCCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910139	C C	CCCTCCCC others(8): Show CCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(13): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00544.hp2 HG00741.hp1 HG01071.hp1 HG01167.hp1 HG01175.hp1 HG01516.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG03195.hp1 HG04204.hp2 NA18957.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0027 a0001c0001t0052 a0001c0001t0061	a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0185 others(13): Show a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0215 a0001c0001t0004g0161 a0001c0001t0004g0165 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0008g0173 a0001c0001t0010g0152 a0001c0001t0010g0172 a0001c0001t0027g0207 a0001c0001t0052g0211 a0001c0001t0061g0193	16	352	0.0455	15	c.153 others(32): Show c.153+2147_153+2148insCCCTCCTCCCCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910157	T T	TCCTCCCC others(8): Show TCCTCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	352	0.0028	15	c.153 others(32): Show c.153+2159_153+2160insCCCTCCTCCCCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910166	T T	TCCTCCTC others(8): Show TCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	352	0.0028	15	c.153 others(32): Show c.153+2177_153+2178insCCCTCCTCCTCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910186	C C	CTCCTCCT others(8): Show CTCCTCCTCCTCCTCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02523.hp2 HG02965.hp2 others(1): Show HG02258.hp1 HG02523.hp2 HG02965.hp2 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009	a0001c0002t0005g0059 a0001c0002t0005g0074 a0001c0002t0007g0120 others(1): Show a0001c0002t0005g0059 a0001c0002t0005g0074 a0001c0002t0007g0120 a0001c0002t0009g0073	4	352	0.0114	15	c.153 others(32): Show c.153+2197_153+2198insGTCCTCCTCCTCCTC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910189	C C	CTCCTCCT others(8): Show CTCCTCCTCCTCCTCG	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18946.hp2 HG03540.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0036 a0001c0002t0009 a0001c0002t0036	a0001c0002t0009g0069 a0001c0002t0036g0309 a0001c0002t0009g0069 a0001c0002t0036g0309	2	352	0.0057	15	c.153 others(32): Show c.153+2200_153+2201insGTCCTCCTCCTCCTC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70919709	T T	TCCCCCCC others(8): Show TCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02486.hp1 NA18961.hp2 others(1): Show HG01106.hp2 HG02486.hp1 NA18961.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0019 a0001c0004t0007 others(1): Show a0001c0001t0002 a0001c0002t0019 a0001c0004t0007 a0001c0004t0009	a0001c0001t0002g0119 a0001c0002t0019g0323 a0001c0004t0007g0098 others(1): Show a0001c0001t0002g0119 a0001c0002t0019g0323 a0001c0004t0007g0098 a0001c0004t0009g0099	4	352	0.0114	15	c.153 others(34): Show c.153+11712_153+11726dupCCCCCCCCCCCCCCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70971115	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02486.hp1 HG02818.hp1 others(2): Show HG02148.hp1 HG02486.hp1 HG02818.hp1 HG03139.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0016 others(2): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0016 a0001c0002t0019 a0001c0002t0067	a0001c0002t0003g0314 a0001c0002t0006g0271 a0001c0002t0016g0276 others(2): Show a0001c0002t0003g0314 a0001c0002t0006g0271 a0001c0002t0016g0276 a0001c0002t0019g0323 a0001c0002t0067g0264	5	352	0.0142	15	c.604 others(32): Show c.604+2031_604+2045dupTTTTTTTTTTTTTTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71003080	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp1 HG03486.hp2 others(1): Show HG01884.hp2 HG03130.hp1 HG03486.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0037 a0001c0001t0002 a0001c0001t0037	a0001c0001t0002g0004 a0001c0001t0002g0031 a0001c0001t0002g0032 others(1): Show a0001c0001t0002g0004 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0037g0046	4	352	0.0114	15	c.263 others(34): Show c.2630-6548_2630-6534dupTTTTTTTTTTTTTTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	8/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71041780	C C	CTACTATA others(8): Show CTACTATACTATACTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0073 a0001c0002t0009g0073	1	352	0.0028	15	c.386 others(34): Show c.3868-3319_3868-3305dupTATACTATACTATAC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	19/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71084554	G G	GGAATCCA others(8): Show GGAATCCAGAGAGGCA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02735.hp2 HG02602.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0127 a0001c0001t0028g0128 a0001c0001t0028g0127 a0001c0001t0028g0128	2	352	0.0057	15	c.533 others(34): Show c.5338-3774_5338-3760dupAATCCAGAGAGGCAG	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	28/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71119428	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01109.hp2 others(20): Show HG00639.hp2 HG01106.hp2 HG01109.hp2 HG01358.hp2 HG01928.hp1 HG02074.hp2 HG02280.hp2 HG02602.hp2 HG02630.hp1 HG02735.hp2 HG02886.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03710.hp1 HG04228.hp1 HG06807.hp1 NA18988.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0002 a0001c0001t0020 a0001c0001t0024 others(7): Show a0001c0001t0002 a0001c0001t0020 a0001c0001t0024 a0001c0001t0028 a0001c0001t0039 a0001c0001t0040 a0001c0002t0005 a0001c0002t0066 a0001c0003t0013 a0001c0010t0071	a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0026 others(20): Show a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0050 a0001c0001t0002g0119 a0001c0001t0020g0025 a0001c0001t0024g0052 a0001c0001t0028g0127 a0001c0001t0028g0128 a0001c0001t0039g0006 a0001c0001t0040g0005 a0001c0002t0005g0109 a0001c0002t0066g0286 a0001c0003t0013g0136 a0001c0003t0013g0137 a0001c0003t0013g0138 a0001c0003t0013g0139 a0001c0003t0013g0140 a0001c0003t0013g0141 a0001c0003t0013g0144 a0001c0010t0071g0351	23	352	0.0653	15	c.94 others(26): Show c.9493_*9494insTTTTTTTTTTTTTTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding		4047		chr14	TogoVar
PCOLCE2_chr3_142812874_142894083	142893990	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03098.hp1 HG02258.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0318 a0001c0001t0001g0319	2	342	0.0059	15	c.-50 others(26): Show c.-5095_-5094insAAAAAAAAAAAAAAA	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4908		chr3	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTTT others(8): Show ATTATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	2	342	0.0059	15	c.-50 others(26): Show c.-5098_-5097insAAAAAAAAAAAATAA	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4911		chr3	TogoVar
PCSK1_chr5_96385333_96438248	96412752	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02451.hp2 HG02647.hp2 others(5): Show HG00738.hp2 HG02451.hp2 HG02647.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp1 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0015 a0001c0004 a0001c0015	a0001c0004t0001 a0001c0004t0023 a0001c0015t0002 a0001c0004t0001 a0001c0004t0023 a0001c0015t0002	a0001c0004t0001g0193 a0001c0004t0001g0209 a0001c0004t0001g0211 others(5): Show a0001c0004t0001g0193 a0001c0004t0001g0209 a0001c0004t0001g0211 a0001c0004t0001g0222 a0001c0004t0001g0231 a0001c0004t0001g0233 a0001c0004t0023g0230 a0001c0015t0002g0221	8	392	0.0204	15	c.710 others(30): Show c.710-277_710-263dupAAAAAAAAAAAAAAA	PCSK1	ENSG00000175426.11	transcript	ENST00000311106.8	protein_coding	6/13			chr5	TogoVar
PCSK2_chr20_17222040_17489578	17335427	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0014 a0001c0001t0018g0014	1	274	0.0037	15	c.283 others(34): Show c.283-22900_283-22899insGTGTGTGTGTGTGTG	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11			chr20	TogoVar
PCSK2_chr20_17222040_17489578	17433785	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01433.hp2 HG00597.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0037 a0001c0001t0018 a0001c0001t0037	a0001c0001t0018g0014 a0001c0001t0037g0032 a0001c0001t0018g0014 a0001c0001t0037g0032	2	274	0.0073	15	c.710 others(32): Show c.710-2923_710-2922insCTCTCTCTCTCTCTC	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	7/11			chr20	TogoVar
PCSK2_chr20_17222040_17489578	17433812	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp2 HG02056.hp1 others(9): Show HG00673.hp1 HG01109.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp1 HG02257.hp2 NA18970.hp2 NA18977.hp2 NA18988.hp1 NA18994.hp2 NA19084.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0022 a0001c0010t0005	a0001c0001t0001g0060 a0001c0001t0001g0121 a0001c0001t0001g0159 others(9): Show a0001c0001t0001g0060 a0001c0001t0001g0121 a0001c0001t0001g0159 a0001c0001t0001g0264 a0001c0001t0002g0176 a0001c0001t0004g0248 a0001c0001t0004g0253 a0001c0001t0005g0106 a0001c0001t0007g0109 a0001c0001t0007g0115 a0001c0001t0022g0053 a0001c0010t0005g0108	12	274	0.0438	15	c.710 others(32): Show c.710-2895_710-2894insTCTCTCTCTCTCCCC	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17450017	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01255.hp2 others(3): Show HG00099.hp2 HG00323.hp2 HG01255.hp2 HG01517.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016	a0001c0001t0002g0169 a0001c0001t0006g0075 a0001c0001t0006g0082 others(3): Show a0001c0001t0002g0169 a0001c0001t0006g0075 a0001c0001t0006g0082 a0001c0001t0009g0097 a0001c0001t0016g0088 a0001c0001t0016g0089	6	274	0.0219	15	c.886 others(32): Show c.886-3709_886-3695dupTTTTTTTTTTTTTTT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17480184	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp2 HG02717.hp1 others(8): Show HG02145.hp1 HG02647.hp2 HG02717.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03579.hp1 NA18942.hp2 NA18947.hp1 NA18950.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0025 a0001c0001t0001g0130 a0001c0001t0001g0141 others(8): Show a0001c0001t0001g0025 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0001g0274 a0001c0001t0004g0050 a0001c0001t0004g0147 a0001c0001t0004g0187	11	274	0.0402	15	c.143 others(34): Show c.1431-1391_1431-1377dupTTTTTTTTTTTTTTT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17484865	G G	GATAGAAT others(8): Show GATAGAATAGAATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01081.hp2 others(44): Show HG00140.hp2 HG00733.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01978.hp1 HG02071.hp1 HG02258.hp2 HG02602.hp2 HG02698.hp1 HG02738.hp2 HG02970.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp2 HG03654.hp2 HG03710.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18961.hp2 NA18970.hp1 NA18977.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA19000.hp2 NA19056.hp1 NA19079.hp2 NA19085.hp2 NA19091.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0040 a0001c0001t0047 a0001c0001t0053 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0002t0045 a0001c0004t0024 a0001c0008t0006	a0001c0001t0001g0023 a0001c0001t0001g0121 a0001c0001t0001g0126 others(44): Show a0001c0001t0001g0023 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0223 a0001c0001t0002g0030 a0001c0001t0002g0160 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0144 a0001c0001t0003g0171 a0001c0001t0004g0047 a0001c0001t0005g0039 a0001c0001t0005g0073 a0001c0001t0005g0094 a0001c0001t0005g0100 a0001c0001t0007g0067 a0001c0001t0007g0081 a0001c0001t0009g0003 a0001c0001t0009g0185 a0001c0001t0009g0186 a0001c0001t0009g0196 a0001c0001t0009g0251 a0001c0001t0009g0252 a0001c0001t0011g0008 a0001c0001t0011g0142 a0001c0001t0011g0150 a0001c0001t0015g0043 a0001c0001t0015g0065 a0001c0001t0015g0161 a0001c0001t0015g0244 a0001c0001t0017g0005 a0001c0001t0017g0009 a0001c0001t0023g0212 a0001c0001t0023g0213 a0001c0001t0025g0217 a0001c0001t0028g0110 a0001c0001t0030g0168 a0001c0001t0040g0256 a0001c0001t0047g0235 a0001c0001t0053g0116 a0001c0001t0061g0093 a0001c0001t0062g0017 a0001c0001t0063g0087 a0001c0002t0045g0247 a0001c0004t0024g0234 a0001c0008t0006g0263	47	274	0.1715	15	c.27 others(26): Show c.2795_*2796insATAGAATAGAATAGA	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding		288		chr20	TogoVar
PCSK4_chr19_1476428_1495350	1490893	G G	GCCCCCCC others(8): Show GCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA19030.hp1 NA18906.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0007 a0002c0004t0001 a0001c0005t0007 a0002c0004t0001	a0001c0005t0007g0099 a0002c0004t0001g0025 a0001c0005t0007g0099 a0002c0004t0001g0025	2	400	0.0050	15	c.-54 others(24): Show c.-548_-547insGGGGGGGGGGGGGGG	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding		544		chr19	TogoVar
PCSK5_chr9_75885673_76367975	76175212	G G	GAATGGAA others(8): Show GAATGGAATGGAATGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0046 a0046	a0046c0056 a0046c0056	a0046c0056t0019 a0046c0056t0019	a0046c0056t0019g0055 a0046c0056t0019g0055	1	166	0.0060	15	c.190 others(30): Show c.1900+92_1900+93insGAATGAAATGGAATG	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76345182	A A	ATTATTTT others(8): Show ATTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG06807.hp2 HG02647.hp2 HG06807.hp2	a0002 a0027 a0002 a0027	a0002c0046 a0027c0039 a0002c0046 a0027c0039	a0002c0046t0010 a0027c0039t0014 a0002c0046t0010 a0027c0039t0014	a0002c0046t0010g0125 a0027c0039t0014g0126 a0002c0046t0010g0125 a0027c0039t0014g0126	2	166	0.0121	15	c.496 others(34): Show c.4967-5627_4967-5613dupTTTTATTTTATTTTA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76351447	G G	GAAAGGAA others(8): Show GAAAGGAAAGAAGAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01123.hp1 HG01255.hp1 others(5): Show HG01069.hp2 HG01123.hp1 HG01255.hp1 HG01433.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG04204.hp1	a0005 a0007 a0008 others(2): Show a0005 a0007 a0008 a0014 a0025	a0005c0002 a0007c0015 a0008c0003 others(3): Show a0005c0002 a0007c0015 a0008c0003 a0008c0060 a0014c0022 a0025c0090	a0005c0002t0005 a0005c0002t0029 a0007c0015t0001 others(5): Show a0005c0002t0005 a0005c0002t0029 a0007c0015t0001 a0008c0003t0016 a0008c0003t0028 a0008c0060t0043 a0014c0022t0016 a0025c0090t0001	a0005c0002t0005g0017 a0005c0002t0029g0157 a0007c0015t0001g0059 others(5): Show a0005c0002t0005g0017 a0005c0002t0029g0157 a0007c0015t0001g0059 a0008c0003t0016g0038 a0008c0003t0028g0163 a0008c0060t0043g0166 a0014c0022t0016g0048 a0025c0090t0001g0150	8	166	0.0482	15	c.506 others(32): Show c.5067+519_5067+520insAAAGGAAAGAAGAAA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37			chr9	TogoVar
PCSK6_chr15_101298933_101494707	101398883	C C	CTATTATT others(8): Show CTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp1 HG01891.hp1 HG02976.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0021 a0001c0001 a0006c0021	a0001c0001t0001 a0006c0021t0002 a0001c0001t0001 a0006c0021t0002	a0001c0001t0001g0234 a0006c0021t0002g0002 a0001c0001t0001g0234 a0006c0021t0002g0002	2	336	0.0060	15	c.824 others(30): Show c.824-322_824-308dupATAATAATAATAATA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101489759	G G	GCCGCCGC others(8): Show GCCGCCGCCGCCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0034 a0001c0013t0001g0034	1	336	0.0030	15	c.-10 others(23): Show c.-104_-90dupTGGCGGCGGCGGCGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		53		chr15	TogoVar
PCSK7_chr11_117199337_117237073	117225472	A A	ATGTCATG others(8): Show ATGTCATGGATTTAAG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0360 a0009c0021t0001g0360	1	460	0.0022	15	c.860 others(30): Show c.860+444_860+458dupCTTAAATCCATGACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	6/16			chr11	TogoVar
PCYOX1_chr2_70253137_70286185	70255592	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0203 a0001c0001t0010g0203	1	424	0.0024	15	c.-25 others(26): Show c.-2573_-2572insAAAAAAAAAAAAAAA	PCYOX1	ENSG00000116005.12	transcript	ENST00000433351.7	protein_coding		2544		chr2	TogoVar
PCYOX1_chr2_70253137_70286185	70283096	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG02280.hp2 HG01169.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0006 a0001c0003t0006g0132 a0001c0003t0006g0006 a0001c0003t0006g0132	2	424	0.0047	15	c.57 others(26): Show c.5704_*5705insAAAAAAAAAAAAAAA	PCYOX1	ENSG00000116005.12	transcript	ENST00000433351.7	protein_coding		1912		chr2	TogoVar
PCYT1B_chrX_24553087_24652347	24571500	T T	TATCATCA others(8): Show TATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG02074.hp1 others(18): Show HG00408.hp1 HG00621.hp1 HG02074.hp1 HG02155.hp2 HG02523.hp1 HG03195.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18951.hp2 NA18966.hp1 NA18984.hp1 NA18995.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19057.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(12): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0060 a0001c0001t0095	a0001c0001t0001g0127 a0001c0001t0010g0234 a0001c0001t0011g0026 others(18): Show a0001c0001t0001g0127 a0001c0001t0010g0234 a0001c0001t0011g0026 a0001c0001t0011g0093 a0001c0001t0011g0118 a0001c0001t0011g0120 a0001c0001t0016g0210 a0001c0001t0016g0212 a0001c0001t0017g0027 a0001c0001t0017g0098 a0001c0001t0018g0053 a0001c0001t0024g0102 a0001c0001t0025g0092 a0001c0001t0026g0094 a0001c0001t0026g0095 a0001c0001t0027g0105 a0001c0001t0041g0104 a0001c0001t0043g0099 a0001c0001t0045g0096 a0001c0001t0060g0100 a0001c0001t0095g0247	21	260	0.0808	15	c.897 others(32): Show c.897+3615_897+3629dupGATGATGATGATGAT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	7/7			chrX	TogoVar
PC_chr11_66843420_66963383	66924369	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	274	0.0037	15	c.-1+ others(32): Show c.-1+28046_-1+28060dupTTTTTTTTTTTTTTT	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22			chr11	TogoVar
PC_chr11_66843420_66963383	66938773	G G	GCTTGATT others(8): Show GCTTGATTAGGATACA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	274	0.0037	15	c.-1+ others(32): Show c.-1+13642_-1+13656dupTGTATCCTAATCAAG	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22			chr11	TogoVar
PDCD6IP_chr3_33793630_33874703	33798239	C C	CCCTGTGC others(8): Show CCCTGTGCATTCCGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp1 others(128): Show HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19077.hp1 NA19080.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0009 a0010	a0001c0005 a0002c0002 a0002c0006 others(7): Show a0001c0005 a0002c0002 a0002c0006 a0002c0008 a0002c0011 a0004c0004 a0005c0009 a0006c0010 a0009c0013 a0010c0012	a0001c0005t0004 a0002c0002t0002 a0002c0002t0006 others(12): Show a0001c0005t0004 a0002c0002t0002 a0002c0002t0006 a0002c0002t0009 a0002c0002t0017 a0002c0006t0002 a0002c0008t0002 a0002c0011t0012 a0004c0004t0002 a0004c0004t0007 a0004c0004t0015 a0005c0009t0002 a0006c0010t0002 a0009c0013t0010 a0010c0012t0002	a0001c0005t0004g0212 a0002c0002t0002g0002 a0002c0002t0002g0005 others(108): Show a0001c0005t0004g0212 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0006g0002 a0002c0002t0006g0196 a0002c0002t0006g0234 a0002c0002t0006g0257 a0002c0002t0009g0248 a0002c0002t0009g0249 a0002c0002t0017g0172 a0002c0006t0002g0004 a0002c0006t0002g0198 a0002c0006t0002g0209 a0002c0006t0002g0210 a0002c0006t0002g0211 a0002c0006t0002g0213 a0002c0008t0002g0184 a0002c0008t0002g0185 a0002c0008t0002g0186 a0002c0008t0002g0187 a0002c0008t0002g0188 a0002c0008t0002g0189 a0002c0011t0012g0173 a0004c0004t0002g0021 a0004c0004t0002g0023 a0004c0004t0002g0174 a0004c0004t0002g0175 a0004c0004t0002g0176 a0004c0004t0002g0177 a0004c0004t0002g0178 a0004c0004t0002g0179 a0004c0004t0002g0180 a0004c0004t0002g0181 a0004c0004t0002g0182 a0004c0004t0002g0183 a0004c0004t0002g0194 a0004c0004t0007g0022 a0004c0004t0007g0191 a0004c0004t0007g0192 a0004c0004t0007g0193 a0004c0004t0015g0190 a0005c0009t0002g0026 a0005c0009t0002g0235 a0006c0010t0002g0258 a0006c0010t0002g0259 a0009c0013t0010g0007 a0010c0012t0002g0005	131	318	0.4120	15	c.-49 others(24): Show c.-490_-489insCCTGTGCATTCCGTA	PDCD6IP	ENSG00000170248.15	transcript	ENST00000307296.8	protein_coding		390		chr3	TogoVar
PDCD6_chr5_266646_319974	299049	T T	TCCCCCCC others(8): Show TCCCCCCCAGCTGCTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02145.hp2 HG02258.hp2 others(18): Show HG01261.hp2 HG02145.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02572.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0002 a0001c0001t0002 a0002c0004t0002	a0001c0001t0002g0008 a0001c0001t0002g0066 a0001c0001t0002g0067 others(17): Show a0001c0001t0002g0008 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0002c0004t0002g0269	21	360	0.0583	15	c.164 others(32): Show c.164-5122_164-5121insCAGCTGCTCCCCCCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	319611	G G	GTTTTCCT others(8): Show GTTTTCCTTCTGTACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	360	0.0028	15	c.50 others(26): Show c.5096_*5097insTTTTCCTTCTGTACC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		4638		chr5	TogoVar
PDCD7_chr15_65112379_65138808	65135935	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(137): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0007 a0009	a0001c0001 a0001c0009 a0002c0002 others(4): Show a0001c0001 a0001c0009 a0002c0002 a0005c0011 a0006c0006 a0007c0007 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0009t0001 a0002c0002t0001 a0005c0011t0001 a0006c0006t0001 a0007c0007t0001 a0009c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0002g0005 a0001c0001t0003g0018 a0001c0001t0003g0079 a0001c0001t0005g0039 a0001c0001t0006g0067 a0001c0001t0007g0031 a0001c0001t0008g0071 a0001c0001t0009g0044 a0001c0009t0001g0051 a0002c0002t0001g0004 a0005c0011t0001g0122 a0006c0006t0001g0026 a0007c0007t0001g0029 a0009c0008t0001g0030	140	218	0.6422	15	c.-21 others(26): Show c.-2155_-2154insCAACAACAACAACAA	PDCD7	ENSG00000090470.15	transcript	ENST00000204549.9	protein_coding		2128		chr15	TogoVar
PDCL2_chr4_55551519_55597245	55571686	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG01168.hp1 others(39): Show HG00323.hp2 HG00597.hp2 HG01168.hp1 HG01256.hp1 HG01515.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03669.hp2 HG03710.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18970.hp2 NA18972.hp1 NA18992.hp2 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19059.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0026 others(29): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0002g0077 a0002c0003t0001g0120 a0002c0003t0001g0142	42	376	0.1117	15	c.219 others(32): Show c.219-1826_219-1825insTTTTTTTTTTTTTTT	PDCL2	ENSG00000163440.12	transcript	ENST00000295645.9	protein_coding	3/5			chr4	TogoVar

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