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	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG04184.hp1 NA20805.hp1 HG03471.hp1 HG04184.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0026 a0001c0001t0056 a0004c0005t0059 a0001c0001t0026 a0001c0001t0056 a0004c0005t0059	a0001c0001t0026g0208 a0001c0001t0056g0207 a0004c0005t0059g0223 a0001c0001t0026g0208 a0001c0001t0056g0207 a0004c0005t0059g0223	3	326	0.0092	18	c.366 others(35): Show c.366-1551_366-1550insATATATATATATTTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMG1_chr21_39169769_39188451	39185295	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	392	0.0026	18	c.-19 others(29): Show c.-1928_-1911dupTTTTTTTTTTTTTTTTTT	PSMG1	ENSG00000183527.12	transcript	ENST00000331573.8	protein_coding		1845		chr21	TogoVar
PSORS1C1_chr6_31109800_31145092	31113721	T T	TGATCCTT others(11): Show TGATCCTTGTTGAAGCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00735.hp1 others(4): Show HG00099.hp1 HG00642.hp2 HG00735.hp1 HG01081.hp1 HG01106.hp1 HG01261.hp1 HG01361.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0005 a0007c0007 a0001c0001 a0004c0005 a0007c0007	a0001c0001t0001 a0001c0001t0010 a0004c0005t0006 others(1): Show a0001c0001t0001 a0001c0001t0010 a0004c0005t0006 a0007c0007t0011	a0001c0001t0001g0089 a0001c0001t0010g0073 a0004c0005t0006g0023 others(2): Show a0001c0001t0001g0089 a0001c0001t0010g0073 a0004c0005t0006g0023 a0004c0005t0006g0167 a0007c0007t0011g0048	7	449	0.0156	18	c.-13 others(29): Show c.-1399_-1398insGATCCTTGTTGAAGCTGG	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding		1078		chr6	TogoVar
PSORS1C1_chr6_31109800_31145092	31127561	A A	AATTATTA others(11): Show AATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00621.hp2 others(84): Show HG00140.hp1 HG00438.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02698.hp1 HG02717.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18955.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18984.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19002.hp2 NA19030.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0005c0004 a0007c0007 a0008c0008	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(15): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0002c0002t0001 a0002c0002t0005 a0002c0002t0006 a0003c0003t0004 a0003c0003t0011 a0003c0003t0012 a0004c0005t0001 a0004c0005t0003 a0004c0005t0006 a0005c0004t0003 a0007c0007t0004 a0007c0007t0009 a0008c0008t0002	a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0040 others(57): Show a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0084 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0134 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0157 a0001c0001t0002g0168 a0001c0001t0006g0072 a0001c0001t0006g0110 a0001c0001t0006g0113 a0001c0001t0006g0146 a0001c0001t0006g0163 a0001c0001t0007g0032 a0001c0001t0007g0266 a0001c0001t0007g0274 a0001c0001t0007g0275 a0001c0001t0008g0252 a0001c0001t0008g0257 a0001c0001t0017g0265 a0002c0002t0001g0027 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0005g0271 a0002c0002t0006g0128 a0002c0002t0006g0129 a0003c0003t0004g0229 a0003c0003t0011g0121 a0003c0003t0012g0264 a0004c0005t0001g0205 a0004c0005t0003g0187 a0004c0005t0006g0023 a0004c0005t0006g0167 a0005c0004t0003g0006 a0005c0004t0003g0060 a0005c0004t0003g0241 a0005c0004t0003g0242 a0007c0007t0004g0213 a0007c0007t0004g0214 a0007c0007t0004g0216 a0007c0007t0009g0210 a0008c0008t0002g0112 a0008c0008t0002g0123 a0008c0008t0002g0126 a0008c0008t0002g0127 a0008c0008t0002g0137	87	449	0.1938	18	c.-65 others(35): Show c.-65+1735_-65+1752dupATTATTATTATTATTATT	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSORS1C1_chr6_31109800_31145092	31127577	A A	ATTATTAT others(11): Show ATTATTATTATTATTATTG	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18954.hp2 HG02155.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	2	449	0.0045	18	c.-65 others(35): Show c.-65+1752_-65+1753insATTGTTATTATTATTATT	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSPC1_chr13_19697500_19787945	19732926	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02559.hp1 HG02647.hp1 others(2): Show HG00735.hp1 HG02559.hp1 HG02647.hp1 HG02723.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 others(2): Show a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0120	5	258	0.0194	18	c.105 others(37): Show c.1053-2583_1053-2582insCTTTTTCTTTTTTTTTTT	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	5/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19778362	T T	TCTCCCCC others(11): Show TCTCCCCCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	258	0.0039	18	c.372 others(35): Show c.372+4006_372+4023dupGGGGAGGGGGAGGGGGAG	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSTPIP2_chr18_45978536_46077260	45979194	C C	CCCTCTCC others(11): Show CCCTCTCCCTCTCCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02717.hp2 HG02896.hp2 others(1): Show HG01109.hp2 HG02717.hp2 HG02896.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0019 a0002c0002t0020 a0002c0002t0010 a0002c0002t0019 a0002c0002t0020	a0002c0002t0010g0111 a0002c0002t0010g0130 a0002c0002t0019g0162 others(1): Show a0002c0002t0010g0111 a0002c0002t0010g0130 a0002c0002t0019g0162 a0002c0002t0020g0161	4	316	0.0127	18	c.62 others(29): Show c.6264_*6265insAGAAGGGAGAGGGAGAGG	PSTPIP2	ENSG00000152229.18	transcript	ENST00000409746.5	protein_coding		4341		chr18	TogoVar
PTBP2_chr1_96716784_96820049	96761346	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0256 a0001c0002t0005g0256	1	364	0.0028	18	c.116 others(35): Show c.116-8331_116-8314dupGTGTGTGTGTGTGTGTGT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96791828	T T	TTTTTTTG others(11): Show TTTTTTTGTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp1 HG02965.hp1 others(2): Show HG02572.hp2 HG02723.hp1 HG02965.hp1 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0254 a0001c0002t0005g0255 a0001c0002t0005g0256 others(2): Show a0001c0002t0005g0254 a0001c0002t0005g0255 a0001c0002t0005g0256 a0001c0002t0005g0257 a0001c0002t0005g0259	5	364	0.0137	18	c.904 others(35): Show c.904+6580_904+6581insGTTTTTTTTTTGTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp1 NA20129.hp1 others(1): Show HG02809.hp1 HG02896.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0317 a0001c0002t0001g0323 a0001c0002t0001g0346 others(1): Show a0001c0002t0001g0317 a0001c0002t0001g0323 a0001c0002t0001g0346 a0001c0002t0001g0351	4	364	0.0110	18	c.905 others(35): Show c.905-5504_905-5487dupTTTTTTTTTTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112232014	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0198 a0001c0001t0027g0198	1	342	0.0029	18	c.102 others(33): Show c.1020+84_1020+85insTTCTTTCTTTCTTTCTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02074.hp1 NA18950.hp1 others(2): Show HG01123.hp1 HG02074.hp1 NA18950.hp1 NA18975.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0015 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0002t0001 a0001c0002t0011	a0001c0001t0002g0274 a0001c0001t0015g0135 a0001c0002t0001g0266 others(2): Show a0001c0001t0002g0274 a0001c0001t0015g0135 a0001c0002t0001g0266 a0001c0002t0011g0188 a0001c0002t0011g0192	5	342	0.0146	18	c.802 others(35): Show c.802+6622_802+6639dupTTTTTTTTTTTTTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112256272	A A	AATATATA others(11): Show AATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	342	0.0029	18	c.517 others(35): Show c.517-3485_517-3484insATATATATGTATATATAT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	5/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112302582	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0339 a0001c0001t0024g0339	1	342	0.0029	18	c.-51 others(35): Show c.-51-4684_-51-4667dupAAAAAAAAAAAAAAAAAA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320291	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA21309.hp1 NA19005.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0281 a0001c0001t0001g0282	2	342	0.0059	18	c.-52 others(37): Show c.-52+13178_-52+13179insATATATATATATATTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320291	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03831.hp1 HG04115.hp1 others(5): Show HG03490.hp2 HG03831.hp1 HG04115.hp1 NA18747.hp2 NA18944.hp1 NA18950.hp1 NA18977.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0011 a0001c0001t0001 a0001c0002t0003 a0001c0002t0011	a0001c0001t0001g0155 a0001c0001t0001g0204 a0001c0001t0001g0326 others(5): Show a0001c0001t0001g0155 a0001c0001t0001g0204 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0002t0003g0283 a0001c0002t0011g0190 a0001c0002t0011g0192 a0001c0002t0011g0299	8	342	0.0234	18	c.-52 others(37): Show c.-52+13178_-52+13179insATATATATATATATATTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18940.hp2 NA19067.hp1 HG02922.hp2 NA18940.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0138 a0001c0001t0003g0156 a0001c0001t0003g0267 a0001c0001t0001g0138 a0001c0001t0003g0156 a0001c0001t0003g0267	3	342	0.0088	18	c.-52 others(37): Show c.-52+13155_-52+13156insAATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp1 others(10): Show HG00140.hp2 HG00323.hp2 HG00639.hp1 HG01167.hp1 HG01891.hp1 HG01952.hp2 HG02273.hp2 HG02897.hp1 HG03710.hp2 NA18969.hp1 NA18974.hp1 NA19064.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0117 others(10): Show a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0331 a0001c0001t0003g0206 a0001c0001t0003g0269	13	342	0.0380	18	c.-52 others(37): Show c.-52+13155_-52+13156insAAAATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02698.hp1 HG03654.hp2 others(2): Show HG01934.hp2 HG02698.hp1 HG03654.hp2 HG03688.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0159 others(2): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0159 a0001c0001t0001g0210 a0001c0001t0003g0209	5	342	0.0146	18	c.-52 others(37): Show c.-52+13155_-52+13156insAAAAAATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440655	C C	CGCATATA others(11): Show CGCATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 NA18971.hp1 NA18989.hp1 HG02523.hp2 NA18971.hp1 NA18989.hp1	a0002 a0002	a0002c0004 a0002c0010 a0002c0004 a0002c0010	a0002c0004t0005 a0002c0010t0041 a0002c0004t0005 a0002c0010t0041	a0002c0004t0005g0011 a0002c0004t0005g0058 a0002c0010t0041g0249 a0002c0004t0005g0011 a0002c0004t0005g0058 a0002c0010t0041g0249	3	380	0.0079	18	c.-19 others(29): Show c.-1991_-1990insATATATATATATATATGC	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1858		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 NA18970.hp2 HG02559.hp2 NA18970.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0011 a0001c0002 a0005c0011	a0001c0002t0002 a0005c0011t0012 a0001c0002t0002 a0005c0011t0012	a0001c0002t0002g0007 a0005c0011t0012g0015 a0001c0002t0002g0007 a0005c0011t0012g0015	2	380	0.0053	18	c.-20 others(29): Show c.-2010_-2009insAAAAAAAATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 NA18965.hp2 HG02602.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0037 a0001c0002t0015 a0001c0002t0037	a0001c0002t0015g0200 a0001c0002t0037g0177 a0001c0002t0015g0200 a0001c0002t0037g0177	2	380	0.0053	18	c.-20 others(29): Show c.-2010_-2009insAAAAAAAAAATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02109.hp2 NA19086.hp2 HG00544.hp1 HG02109.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0170 a0001c0002t0002g0180 a0001c0002t0002g0192 a0001c0002t0002g0170 a0001c0002t0002g0180 a0001c0002t0002g0192	3	380	0.0079	18	c.-20 others(29): Show c.-2010_-2009insAAAAAAAAAAAATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCH1_chr9_95437980_95514266	95452328	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02015.hp2 HG04199.hp1 others(2): Show HG01517.hp1 HG02015.hp2 HG04199.hp1 NA18971.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0007 others(2): Show a0001c0003 a0001c0004 a0001c0007 a0001c0038 a0002c0017	a0001c0003t0004 a0001c0004t0021 a0001c0007t0022 others(2): Show a0001c0003t0004 a0001c0004t0021 a0001c0007t0022 a0001c0038t0044 a0002c0017t0004	a0001c0003t0004g0036 a0001c0004t0021g0258 a0001c0007t0022g0208 others(2): Show a0001c0003t0004g0036 a0001c0004t0021g0258 a0001c0007t0022g0208 a0001c0038t0044g0210 a0002c0017t0004g0039	5	284	0.0176	18	c.344 others(37): Show c.3449+1132_3449+1149dupGTGTGTGTGTGTGTGTGT	PTCH1	ENSG00000185920.19	transcript	ENST00000331920.11	protein_coding	20/23			chr9	TogoVar
PTCH1_chr9_95437980_95514266	95506656	A A	ACGCCCGC others(11): Show ACGCCCGCTTGCGCGCACC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00738.hp2 HG01099.hp1 others(22): Show HG00597.hp1 HG00738.hp2 HG01099.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp2 HG01517.hp1 HG02027.hp1 HG02056.hp1 HG02559.hp1 HG03704.hp2 NA18939.hp2 NA18944.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18962.hp2 NA18968.hp1 NA18986.hp2 NA19000.hp2 NA19004.hp1 NA19056.hp2 NA19064.hp2 NA19090.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0017 a0001c0003 a0002c0017	a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 others(1): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0002c0017t0004	a0001c0003t0001g0001 a0001c0003t0001g0028 a0001c0003t0001g0040 others(21): Show a0001c0003t0001g0001 a0001c0003t0001g0028 a0001c0003t0001g0040 a0001c0003t0004g0025 a0001c0003t0004g0026 a0001c0003t0004g0027 a0001c0003t0004g0029 a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0032 a0001c0003t0004g0033 a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0036 a0001c0003t0004g0037 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0005g0038 a0002c0017t0004g0039	25	284	0.0880	18	c.202 others(31): Show c.202-75_202-58dupGGTGCGCGCAAGCGGGCG	PTCH1	ENSG00000185920.19	transcript	ENST00000331920.11	protein_coding	1/23			chr9	TogoVar
PTCH1_chr9_95437980_95521971	95452328	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02015.hp2 HG04199.hp1 others(2): Show HG01517.hp1 HG02015.hp2 HG04199.hp1 NA18971.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0008 others(2): Show a0001c0003 a0001c0004 a0001c0008 a0001c0037 a0002c0020	a0001c0003t0003 a0001c0004t0003 a0001c0008t0015 others(2): Show a0001c0003t0003 a0001c0004t0003 a0001c0008t0015 a0001c0037t0024 a0002c0020t0003	a0001c0003t0003g0170 a0001c0004t0003g0255 a0001c0008t0015g0015 others(2): Show a0001c0003t0003g0170 a0001c0004t0003g0255 a0001c0008t0015g0015 a0001c0037t0024g0016 a0002c0020t0003g0178	5	278	0.0180	18	c.344 others(37): Show c.3446+1132_3446+1149dupGTGTGTGTGTGTGTGTGT	PTCH1	ENSG00000185920.19	transcript	ENST00000437951.6	protein_coding	20/23			chr9	TogoVar
PTCH1_chr9_95437980_95521971	95506656	A A	ACGCCCGC others(11): Show ACGCCCGCTTGCGCGCACC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00738.hp2 HG01099.hp1 others(22): Show HG00597.hp1 HG00738.hp2 HG01099.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp2 HG01517.hp1 HG02027.hp1 HG02056.hp1 HG02559.hp1 HG03704.hp2 NA18939.hp2 NA18944.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18962.hp2 NA18968.hp1 NA18986.hp2 NA19000.hp2 NA19004.hp1 NA19056.hp2 NA19064.hp2 NA19090.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0020 a0001c0003 a0002c0020	a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 others(2): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0030 a0002c0020t0003	a0001c0003t0001g0007 a0001c0003t0001g0160 a0001c0003t0001g0166 others(21): Show a0001c0003t0001g0007 a0001c0003t0001g0160 a0001c0003t0001g0166 a0001c0003t0003g0161 a0001c0003t0003g0162 a0001c0003t0003g0163 a0001c0003t0003g0164 a0001c0003t0003g0165 a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0174 a0001c0003t0003g0177 a0001c0003t0003g0179 a0001c0003t0003g0180 a0001c0003t0003g0181 a0001c0003t0003g0182 a0001c0003t0003g0183 a0001c0003t0004g0159 a0001c0003t0030g0173 a0002c0020t0003g0178	25	278	0.0899	18	c.199 others(31): Show c.199-75_199-58dupGGTGCGCGCAAGCGGGCG	PTCH1	ENSG00000185920.19	transcript	ENST00000437951.6	protein_coding	1/23			chr9	TogoVar
PTCH1_chr9_95437980_95521971	95514647	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03041.hp2 HG02818.hp1 HG03041.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0021 a0001c0014t0021	a0001c0014t0021g0212 a0001c0014t0021g0213 a0001c0014t0021g0212 a0001c0014t0021g0213	2	278	0.0072	18	c.198 others(35): Show c.198+1975_198+1976insTCTCTCACACACACACAC	PTCH1	ENSG00000185920.19	transcript	ENST00000437951.6	protein_coding	1/23			chr9	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG00735.hp1 others(28): Show HG00609.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01361.hp2 HG01978.hp2 HG02129.hp2 HG02165.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02723.hp2 HG03942.hp2 HG04204.hp2 NA18747.hp1 NA18942.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18966.hp1 NA18972.hp1 NA18977.hp2 NA18983.hp1 NA18999.hp2 NA19000.hp1 NA19074.hp2 NA19085.hp2 NA19087.hp2 NA19240.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0003 a0002c0004 a0005c0022 others(1): Show a0001c0003 a0002c0004 a0005c0022 a0010c0013	a0001c0003t0001 a0001c0003t0007 a0002c0004t0001 others(2): Show a0001c0003t0001 a0001c0003t0007 a0002c0004t0001 a0005c0022t0001 a0010c0013t0001	a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0036 others(21): Show a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0040 a0001c0003t0001g0074 a0001c0003t0001g0107 a0001c0003t0001g0173 a0001c0003t0001g0183 a0001c0003t0001g0188 a0001c0003t0001g0193 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0200 a0001c0003t0001g0240 a0001c0003t0007g0243 a0002c0004t0001g0157 a0002c0004t0001g0174 a0002c0004t0001g0175 a0002c0004t0001g0177 a0002c0004t0001g0190 a0002c0004t0001g0239 a0005c0022t0001g0176 a0010c0013t0001g0210	31	370	0.0838	18	c.813 others(33): Show c.813+260_813+261insTTTTTTTTTTTTTTTTTT	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21			chr1	TogoVar
PTCHD1_chrX_23329849_23409374	23334787	T T	TGCCGCCG others(11): Show TGCCGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0095 a0001c0001t0013g0095	1	297	0.0034	18	c.-89 others(25): Show c.-89_-88insGCCGCCGCCGCCGCCGCC	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding		61		chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23394409	G G	GACACACA others(11): Show GACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 HG03942.hp1 NA18959.hp1 others(4): Show HG01433.hp1 HG03942.hp1 NA18959.hp1 NA18978.hp2 NA18981.hp1 NA19012.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0001t0063 a0001c0001t0064 others(3): Show a0001c0001t0022 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0002t0062	a0001c0001t0022g0005 a0001c0001t0022g0022 a0001c0001t0063g0221 others(4): Show a0001c0001t0022g0005 a0001c0001t0022g0022 a0001c0001t0063g0221 a0001c0001t0064g0182 a0001c0001t0065g0143 a0001c0001t0066g0080 a0001c0002t0062g0075	7	297	0.0236	18	c.24 others(27): Show c.249_*266dupACACACACACACACACAC	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	3/3	267	INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23401023	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0156 a0001c0001t0156	a0001c0001t0156g0137 a0001c0001t0156g0137	1	297	0.0034	18	c.68 others(29): Show c.6856_*6873dupGTGTGTGTGTGTGTGTGT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	3/3	6874	INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD4_chr6_47851673_48116197	47882741	G G	GAGATATA others(11): Show GAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0134 a0001c0001t0092g0134	1	182	0.0055	18	c.899 others(35): Show c.899-2806_899-2805insATATATATATATATATCT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTDSS1_chr8_96256902_96341995	96266077	G G	GTTGGTAA others(11): Show GTTGGTAAACTTGGAAATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	262	0.0038	18	c.179 others(35): Show c.179+3862_179+3879dupGTAAACTTGGAAATATTG	PTDSS1	ENSG00000156471.13	transcript	ENST00000517309.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTEN_chr10_87858625_87976930	87858636	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG02896.hp1 HG01258.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0031 a0001c0001t0014 a0001c0001t0031	a0001c0001t0014g0002 a0001c0001t0031g0298 a0001c0001t0014g0002 a0001c0001t0031g0298	2	322	0.0062	18	c.-58 others(29): Show c.-5834_-5833insAAAAAAAAAAAAAAAAAA	PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding		4988		chr10	TogoVar
PTER_chr10_16432010_16518745	16452194	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG01943.hp1 others(3): Show HG01109.hp1 HG01255.hp1 HG01943.hp1 HG02109.hp2 NA18984.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0010	a0001c0001t0001g0075 a0001c0001t0002g0122 a0001c0001t0004g0121 others(3): Show a0001c0001t0001g0075 a0001c0001t0002g0122 a0001c0001t0004g0121 a0001c0001t0004g0123 a0001c0002t0001g0192 a0001c0003t0010g0074	6	378	0.0159	18	c.-49 others(37): Show c.-49+15157_-49+15174dupCACACACACACACACACA	PTER	ENSG00000165983.15	transcript	ENST00000535784.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTER_chr10_16432010_16518745	16476901	C C	CTCTCTCT others(11): Show CTCTCTCTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG03041.hp2 others(4): Show HG02109.hp1 HG02257.hp2 HG03041.hp2 HG03130.hp2 HG03486.hp2 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0024	a0001c0002t0001g0299 a0001c0002t0002g0300 a0001c0002t0005g0104 others(4): Show a0001c0002t0001g0299 a0001c0002t0002g0300 a0001c0002t0005g0104 a0001c0002t0008g0191 a0001c0002t0008g0303 a0001c0002t0009g0302 a0001c0002t0024g0097	7	378	0.0185	18	c.-48 others(35): Show c.-48-7435_-48-7434insCTCTCTCTTTTTTTTTTT	PTER	ENSG00000165983.15	transcript	ENST00000535784.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTER_chr10_16432010_16518745	16507201	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18986.hp1 HG02723.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0359 a0001c0001t0001g0245 a0001c0001t0001g0359	2	378	0.0053	18	c.839 others(35): Show c.839+2044_839+2061dupATATATATATATATATAT	PTER	ENSG00000165983.15	transcript	ENST00000535784.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTER_chr10_16432010_16518745	16516786	G G	GCATTAGA others(11): Show GCATTAGAGTGATTCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	378	0.0027	18	c.55 others(29): Show c.5530_*5531insCATTAGAGTGATTCCACA	PTER	ENSG00000165983.15	transcript	ENST00000535784.7	protein_coding		3042		chr10	TogoVar
PTF1A_chr10_23187312_23199245	23189486	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	410	0.0024	18	c.-30 others(29): Show c.-3045_-3044insTGTGTGTGTGTGTGTGTG	PTF1A	ENSG00000168267.7	transcript	ENST00000376504.4	protein_coding		2825		chr10	TogoVar
PTGER1_chr19_14467466_14480354	14471790	T T	TCCCCTGC others(11): Show TCCCCTGCCCCTGCCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 NA19009.hp2 HG00544.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	408	0.0049	18	c.75 others(27): Show c.752_*769dupCAGGGGCAGGGGCAGGGG	PTGER1	ENSG00000160951.4	transcript	ENST00000292513.4	protein_coding		675		chr19	TogoVar
PTGER4_chr5_40674915_40698735	40677213	G G	GAAGGGGT others(11): Show GAAGGGGTCCAGGCCAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	406	0.0025	18	c.-33 others(29): Show c.-3309_-3308insAAGGGGTCCAGGCCAGAT	PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding		2701		chr5	TogoVar
PTGER4_chr5_40674915_40698735	40697226	A A	AAAAGAAA others(11): Show AAAAGAAAGAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	406	0.0025	18	c.48 others(29): Show c.4848_*4849insAAAGAAAGAGAAAGAAAG	PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding		3492		chr5	TogoVar
PTGER4_chr5_40674915_40698735	40697226	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	406	0.0025	18	c.48 others(29): Show c.4848_*4849insAGAAAGAAAGAAAGAAAG	PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding		3492		chr5	TogoVar
PTGES3L_chr17_42963103_42985080	42970674	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0043 a0003c0003t0001g0043	1	336	0.0030	18	c.379 others(33): Show c.379-333_379-332insTGTGTGTGTGTGTGTGTG	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding	5/6			chr17	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG03453.hp1 NA18981.hp2 HG02293.hp1 HG03453.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0196 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0196	3	372	0.0081	18	c.3-1 others(31): Show c.3-1778_3-1761dupTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGES3_chr12_56658349_56693284	56683473	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19005.hp2 HG01884.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0156 a0001c0001t0001g0089 a0001c0001t0001g0156	2	372	0.0054	18	c.2+4 others(31): Show c.2+4507_2+4524dupTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGES_chr9_129733349_129758042	129755506	G G	GTAAAATG others(11): Show GTAAAATGCAGCTGACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	426	0.0024	18	c.-24 others(29): Show c.-2495_-2494insAGGGTCAGCTGCATTTTA	PTGES	ENSG00000148344.11	transcript	ENST00000340607.5	protein_coding		2465		chr9	TogoVar
PTGFR_chr1_78485974_78545701	78532364	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18906.hp1 NA20300.hp1 others(1): Show HG02572.hp2 NA18906.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0001 a0001c0001t0004 a0001c0001t0014	a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0004g0063 others(1): Show a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0004g0063 a0001c0001t0014g0294	4	386	0.0104	18	c.799 others(35): Show c.799-4026_799-4009dupATATATATATATATATAT	PTGFR	ENSG00000122420.10	transcript	ENST00000370757.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar

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