Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
P2RY12_chr3_151331843_151389753	151375970	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG01175.hp2 others(5): Show HG00733.hp1 HG00741.hp1 HG01175.hp2 HG02630.hp1 HG03491.hp1 HG03516.hp2 HG04204.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0003c0006t0003	a0001c0001t0001g0037 a0001c0001t0001g0292 a0001c0001t0001g0293 others(4): Show a0001c0001t0001g0037 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0329 a0001c0002t0002g0043 a0001c0002t0008g0045 a0003c0006t0003g0044	8	396	0.0202	18	c.-18 others(37): Show c.-180+8721_-180+8722insATATATATATATATATAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY14_chr3_151207117_151283542	151269397	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03540.hp2 NA18967.hp2 others(1): Show HG02572.hp1 HG03540.hp2 NA18967.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0238 a0001c0001t0001g0256 a0001c0001t0001g0260 others(1): Show a0001c0001t0001g0238 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0002t0003g0113	4	404	0.0099	18	c.-13 others(37): Show c.-133+8872_-133+8889dupTGTGTGTGTGTGTGTGTG	P2RY14	ENSG00000174944.9	transcript	ENST00000309170.8	protein_coding	1/2			chr3	TogoVar
P2RY14_chr3_151207117_151283542	151270196	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01517.hp2 HG02717.hp1 others(4): Show HG00735.hp1 HG01517.hp2 HG02717.hp1 HG02970.hp1 HG03704.hp1 HG04115.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0006 a0002c0004t0006 a0001c0001t0001 a0001c0002t0006 a0002c0004t0006	a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0050 others(4): Show a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0083 a0001c0001t0001g0119 a0001c0002t0006g0091 a0002c0004t0006g0084	7	404	0.0173	18	c.-13 others(37): Show c.-133+8073_-133+8090dupACACACACACACACACAC	P2RY14	ENSG00000174944.9	transcript	ENST00000309170.8	protein_coding	1/2			chr3	TogoVar
P2RY1_chr3_152830131_152846439	152830688	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03209.hp1 HG02622.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0000 a0001c0002t0016g0000	2	368	0.0054	18	c.-50 others(29): Show c.-5095_-5094insTTATTATTATTATTATTA	P2RY1	ENSG00000169860.7	transcript	ENST00000305097.6	protein_coding		4442		chr3	TogoVar
P2RY1_chr3_152830131_152846439	152841263	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0000 a0001c0002t0039g0000	1	368	0.0027	18	c.43 others(29): Show c.4377_*4394dupGTGTGTGTGTGTGTGTGT	P2RY1	ENSG00000169860.7	transcript	ENST00000305097.6	protein_coding	1/1	4395	INFO_REALIGN_3_PRIME	chr3	TogoVar
P2RY8_chrX_1457581_1542185	1468777	C C	CTCCCCTC others(11): Show CTCCCCTCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02809.hp1 HG01070.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0016 a0001c0001t0006g0018 a0001c0001t0001g0016 a0001c0001t0006g0018	2	114	0.0175	18	c.-24 others(35): Show c.-24-2196_-24-2195insAGGGGAGGGGAGAGGGGA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1468945	T T	TCCCCTCC others(11): Show TCCCCTCCCCTTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0027 a0001c0001t0022g0027	1	114	0.0088	18	c.-24 others(35): Show c.-24-2364_-24-2363insGAGAGGGAAGGGGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1478273	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01081.hp1 others(10): Show HG00639.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01346.hp2 HG02071.hp1 HG02809.hp1 HG03239.hp2 NA18960.hp1 NA18973.hp2 NA18984.hp1 NA18994.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0011 a0001c0001 a0002c0002 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0023 a0001c0001t0028 a0002c0002t0004 a0009c0011t0018	a0001c0001t0001g0033 a0001c0001t0001g0078 a0001c0001t0001g0090 others(10): Show a0001c0001t0001g0033 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0002g0083 a0001c0001t0002g0107 a0001c0001t0006g0018 a0001c0001t0008g0020 a0001c0001t0008g0061 a0001c0001t0023g0059 a0001c0001t0028g0089 a0002c0002t0004g0019 a0009c0011t0018g0085	13	114	0.1140	18	c.-24 others(37): Show c.-24-11692_-24-11691insTGCACACACACACACACA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	189970191	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00673.hp2 others(32): Show HG00408.hp2 HG00438.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01257.hp1 HG01517.hp1 HG01934.hp2 HG02015.hp1 HG02027.hp2 HG02145.hp1 HG02148.hp2 HG02486.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG03195.hp2 HG03710.hp1 NA18522.hp1 NA18747.hp2 NA18944.hp2 NA18953.hp1 NA18963.hp1 NA18966.hp2 NA18983.hp1 NA18990.hp2 NA19009.hp1 NA19043.hp1 NA19054.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0020 a0001c0002t0022 a0001c0003t0007 a0001c0020t0005	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0179 others(32): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0179 a0001c0001t0002g0292 a0001c0001t0005g0025 a0001c0001t0005g0075 a0001c0001t0005g0267 a0001c0001t0014g0247 a0001c0001t0027g0120 a0001c0002t0001g0224 a0001c0002t0002g0145 a0001c0002t0002g0165 a0001c0002t0002g0172 a0001c0002t0002g0207 a0001c0002t0002g0237 a0001c0002t0002g0242 a0001c0002t0003g0076 a0001c0002t0003g0138 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0175 a0001c0002t0003g0253 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0006g0060 a0001c0002t0006g0191 a0001c0002t0006g0240 a0001c0002t0008g0105 a0001c0002t0008g0109 a0001c0002t0008g0220 a0001c0002t0009g0102 a0001c0002t0020g0284 a0001c0002t0022g0093 a0001c0003t0007g0081 a0001c0020t0005g0304	35	304	0.1151	18	c.189 others(35): Show c.1893+607_1893+624dupATATATATATATATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007959	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp2 HG02738.hp2 others(4): Show HG01891.hp2 HG02572.hp2 HG02738.hp2 HG03669.hp1 HG04204.hp1 NA18984.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0017 a0001c0002t0003 a0001c0003t0001 a0001c0001t0017 a0001c0002t0003 a0001c0003t0001	a0001c0001t0017g0003 a0001c0001t0017g0021 a0001c0002t0003g0175 others(4): Show a0001c0001t0017g0003 a0001c0001t0017g0021 a0001c0002t0003g0175 a0001c0003t0001g0089 a0001c0003t0001g0130 a0001c0003t0001g0152 a0001c0003t0001g0182	7	304	0.0230	18	c.481 others(37): Show c.481-12518_481-12517insGTGTGTGTGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0007 a0002c0017t0007	a0002c0017t0007g0300 a0002c0017t0007g0300	1	304	0.0033	18	c.481 others(37): Show c.481-12524_481-12523insATGTGTGTGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(11): Show CACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01358.hp1 HG01433.hp1 others(2): Show HG01099.hp2 HG01358.hp1 HG01433.hp1 HG01943.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0118 a0001c0001t0001g0139 a0001c0001t0001g0179 others(2): Show a0001c0001t0001g0118 a0001c0001t0001g0139 a0001c0001t0001g0179 a0001c0001t0003g0289 a0001c0001t0004g0108	5	304	0.0165	18	c.481 others(37): Show c.481-12524_481-12523insATATATATATGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190012207	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	304	0.0033	18	c.481 others(37): Show c.481-16783_481-16766dupACACACACACACACACAC	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190036485	C C	CAAGCTTC others(11): Show CAAGCTTCATCCCACAGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(247): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0020 a0002c0018 a0002c0019 a0003c0012 a0004c0014 a0005c0015 a0006c0008 a0007c0010 a0008c0013 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0013 a0001c0002t0016 a0001c0002t0020 a0001c0003t0001 a0001c0003t0007 a0001c0003t0018 a0001c0003t0021 a0001c0004t0002 a0001c0004t0016 a0001c0006t0001 a0001c0007t0006 a0001c0009t0007 a0001c0020t0005 a0002c0018t0002 a0002c0019t0015 a0003c0012t0003 a0004c0014t0003 a0005c0015t0002 a0006c0008t0010 a0007c0010t0001 a0008c0013t0001 a0009c0011t0006	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 others(247): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0002g0026 a0001c0001t0002g0039 a0001c0001t0002g0082 a0001c0001t0002g0148 a0001c0001t0002g0292 a0001c0001t0003g0055 a0001c0001t0003g0099 a0001c0001t0003g0193 a0001c0001t0003g0221 a0001c0001t0003g0279 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0295 a0001c0001t0004g0009 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0034 a0001c0001t0004g0052 a0001c0001t0004g0064 a0001c0001t0004g0108 a0001c0001t0004g0121 a0001c0001t0004g0126 a0001c0001t0004g0141 a0001c0001t0004g0156 a0001c0001t0004g0188 a0001c0001t0004g0194 a0001c0001t0004g0217 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0246 a0001c0001t0004g0258 a0001c0001t0004g0299 a0001c0001t0005g0011 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0028 a0001c0001t0005g0033 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0075 a0001c0001t0005g0079 a0001c0001t0005g0083 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0267 a0001c0001t0005g0269 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0297 a0001c0001t0006g0202 a0001c0001t0006g0293 a0001c0001t0007g0098 a0001c0001t0009g0090 a0001c0001t0010g0084 a0001c0001t0010g0285 a0001c0001t0011g0077 a0001c0001t0011g0080 a0001c0001t0012g0155 a0001c0001t0012g0216 a0001c0001t0014g0027 a0001c0001t0014g0247 a0001c0001t0015g0010 a0001c0001t0017g0003 a0001c0001t0017g0021 a0001c0001t0019g0036 a0001c0001t0023g0248 a0001c0001t0024g0189 a0001c0001t0025g0074 a0001c0001t0026g0087 a0001c0001t0027g0120 a0001c0002t0001g0050 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0124 a0001c0002t0001g0146 a0001c0002t0001g0224 a0001c0002t0002g0008 a0001c0002t0002g0029 a0001c0002t0002g0043 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0057 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0145 a0001c0002t0002g0151 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0183 a0001c0002t0002g0186 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0207 a0001c0002t0002g0210 a0001c0002t0002g0214 a0001c0002t0002g0237 a0001c0002t0002g0242 a0001c0002t0002g0245 a0001c0002t0002g0252 a0001c0002t0002g0254 a0001c0002t0002g0259 a0001c0002t0002g0263 a0001c0002t0002g0265 a0001c0002t0002g0272 a0001c0002t0002g0276 a0001c0002t0002g0281 a0001c0002t0002g0291 a0001c0002t0003g0042 a0001c0002t0003g0070 a0001c0002t0003g0076 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0115 a0001c0002t0003g0119 a0001c0002t0003g0122 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0153 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0184 a0001c0002t0003g0192 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0233 a0001c0002t0003g0253 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0268 a0001c0002t0004g0112 a0001c0002t0005g0208 a0001c0002t0006g0060 a0001c0002t0006g0104 a0001c0002t0006g0131 a0001c0002t0006g0191 a0001c0002t0006g0240 a0001c0002t0008g0035 a0001c0002t0008g0105 a0001c0002t0008g0109 a0001c0002t0008g0220 a0001c0002t0009g0100 a0001c0002t0009g0102 a0001c0002t0013g0135 a0001c0002t0013g0147 a0001c0002t0016g0185 a0001c0002t0020g0284 a0001c0003t0001g0030 a0001c0003t0001g0152 a0001c0003t0001g0225 a0001c0003t0001g0262 a0001c0003t0001g0273 a0001c0003t0007g0190 a0001c0003t0018g0088 a0001c0003t0021g0196 a0001c0004t0002g0020 a0001c0004t0002g0205 a0001c0004t0016g0218 a0001c0006t0001g0002 a0001c0007t0006g0022 a0001c0009t0007g0085 a0001c0020t0005g0304 a0002c0018t0002g0302 a0002c0019t0015g0303 a0003c0012t0003g0283 a0004c0014t0003g0133 a0005c0015t0002g0236 a0006c0008t0010g0274 a0007c0010t0001g0091 a0008c0013t0001g0096 a0009c0011t0006g0204	250	304	0.8224	18	c.481 others(37): Show c.481-41044_481-41043insATCTGTGGGATGAAGCTT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190041020	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01934.hp2 NA18957.hp1 others(3): Show HG01070.hp2 HG01934.hp2 NA18957.hp1 NA19000.hp2 NA19088.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0003	a0001c0001t0001g0054 a0001c0001t0001g0212 a0001c0001t0001g0244 others(3): Show a0001c0001t0001g0054 a0001c0001t0001g0212 a0001c0001t0001g0244 a0001c0001t0004g0052 a0001c0001t0005g0075 a0001c0002t0003g0070	6	304	0.0197	18	c.481 others(37): Show c.481-45596_481-45579dupTATATATATATATATATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(11): Show TATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0072	1	304	0.0033	18	c.480 others(37): Show c.480+54093_480+54094insGTGTGTGTGTATATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3R3URF_chr1_46170486_46181488	46179964	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02895.hp2 HG02897.hp1 others(2): Show HG02055.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010	5	422	0.0119	18	c.-35 others(29): Show c.-3511_-3494dupACACACACACACACACAC	P3R3URF	ENSG00000250719.2	transcript	ENST00000506599.2	protein_coding		3477		chr1	TogoVar
P4HA1_chr10_73002217_73101866	73093871	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	234	0.0043	18	c.-33 others(35): Show c.-33+2894_-33+2895insATATATATATATATATAT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093907	T T	TATATATA others(11): Show TATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	234	0.0043	18	c.-33 others(35): Show c.-33+2858_-33+2859insGTGTGTATATATATATAT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
P4HA2_chr5_132185147_132232853	132228033	G G	GGGAGCCG others(11): Show GGGAGCCGGAGCCGGAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02723.hp1 others(2): Show HG01891.hp2 HG02486.hp2 HG02723.hp1 HG02965.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0042	a0001c0001t0001g0328 a0001c0001t0005g0325 a0001c0001t0015g0326 others(2): Show a0001c0001t0001g0328 a0001c0001t0005g0325 a0001c0001t0015g0326 a0001c0001t0015g0327 a0001c0001t0042g0329	5	426	0.0117	18	c.-28 others(27): Show c.-280_-263dupGGCTCCGGCTCCGGCTCC	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding		181		chr5	TogoVar
P4HA3_chr11_74261657_74316640	74281869	T T	TATAATAA others(11): Show TATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03098.hp1 NA21309.hp1 HG00558.hp1 HG03098.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 a0001c0001t0001 a0001c0001t0007 a0002c0002t0002	a0001c0001t0001g0240 a0001c0001t0007g0045 a0002c0002t0002g0122 a0001c0001t0001g0240 a0001c0001t0007g0045 a0002c0002t0002g0122	3	398	0.0075	18	c.111 others(37): Show c.1111-2435_1111-2418dupTATTATTATTATTATTAT	P4HA3	ENSG00000149380.12	transcript	ENST00000331597.9	protein_coding	7/12			chr11	TogoVar
PABIR1_chr9_68775065_68790566	68788474	T T	TTTTTGTT others(11): Show TTTTTGTTGTTTTGTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 NA19088.hp2 HG02622.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0021 a0001c0001t0006 a0001c0001t0021	a0001c0001t0006g0000 a0001c0001t0021g0000 a0001c0001t0006g0000 a0001c0001t0021g0000	2	436	0.0046	18	c.74 others(29): Show c.7446_*7447insTTTTGTTGTTTTGTTTTG	PABIR1	ENSG00000187866.10	transcript	ENST00000394264.7	protein_coding		2909		chr9	TogoVar
PABPC1_chr8_100697916_100727088	100700637	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	416	0.0024	18	c.27 others(29): Show c.2706_*2723dupTTTTTTTTTTTTTTTTTT	PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding		2278		chr8	TogoVar
PABPC1_chr8_100697916_100727088	100700663	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02970.hp1 HG03471.hp2 others(7): Show HG02559.hp1 HG02970.hp1 HG03471.hp2 HG03492.hp2 NA18612.hp2 NA18957.hp2 NA18967.hp2 NA18984.hp1 NA18995.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0131 a0001c0001t0001g0143 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0007g0174	10	416	0.0240	18	c.26 others(29): Show c.2697_*2698insGTTTTTTTTTTTTTTTTT	PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding		2252		chr8	TogoVar
PABPC1_chr8_100697916_100727088	100700663	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAACAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	18	c.26 others(29): Show c.2697_*2698insGTTTGTTTTTTTTTTTTT	PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding		2252		chr8	TogoVar
PABPC1_chr8_100697916_100727088	100708881	A A	AAATAAAT others(11): Show AAATAAATAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02109.hp1 others(15): Show HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02622.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(12): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0003g0172	18	416	0.0433	18	c.133 others(35): Show c.1336+251_1336+252insATTTATTTATTATTTATT	PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding	9/14			chr8	TogoVar
PABPC4_chr1_39555816_39581790	39559004	T T	TCTATATT others(11): Show TCTATATTACAAACTACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	374	0.0027	18	c.21 others(29): Show c.2131_*2132insCTGTAGTTTGTAATATAG	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding		1811		chr1	TogoVar
PACC1_chr1_212358928_212419886	212381770	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00642.hp1 others(42): Show HG00099.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01981.hp1 HG02056.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02258.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02970.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03942.hp1 HG04204.hp1 NA18940.hp1 NA18975.hp2 NA18984.hp1 NA19003.hp1 NA19066.hp1 NA19240.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0006t0017	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0193 others(41): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0003g0007 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0065 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0004g0183 a0001c0001t0004g0185 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0294 a0001c0001t0005g0339 a0001c0001t0005g0343 a0001c0001t0005g0344 a0001c0001t0005g0345 a0001c0001t0010g0066 a0001c0006t0017g0315	45	374	0.1203	18	c.496 others(35): Show c.496-1751_496-1734dupGTGTGTGTGTGTGTGTGT	PACC1	ENSG00000065600.13	transcript	ENST00000261455.9	protein_coding	4/7			chr1	TogoVar
PACC1_chr1_212358928_212419886	212381770	G G	GACACAGT others(11): Show GACACAGTGACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02258.hp1 others(7): Show HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 others(4): Show a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0262 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0304	10	374	0.0267	18	c.496 others(35): Show c.496-1734_496-1733insGTGTGTGTGTCACTGTGT	PACC1	ENSG00000065600.13	transcript	ENST00000261455.9	protein_coding	4/7			chr1	TogoVar
PACRGL_chr4_20695458_20737557	20728972	A A	AGTTGTTG others(11): Show AGTTGTTGAGCACTTATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18981.hp1 NA18986.hp1 NA18981.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0006 a0001c0001t0016g0082 a0001c0001t0016g0006 a0001c0001t0016g0082	2	412	0.0049	18	c.16 others(29): Show c.1632_*1649dupGTTGTTGAGCACTTATTT	PACRGL	ENSG00000163138.19	transcript	ENST00000503585.6	protein_coding	9/9	1650	INFO_REALIGN_3_PRIME	chr4	TogoVar
PACRGL_chr4_20695458_20737557	20729471	C C	CTAATTTT others(11): Show CTAATTTTTAAATGTTTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG01106.hp2 others(12): Show HG00140.hp1 HG01081.hp1 HG01106.hp2 HG01346.hp2 HG02055.hp2 HG02109.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02809.hp1 HG02970.hp2 HG03041.hp2 HG03490.hp1 HG03927.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0040 others(4): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0053	a0001c0001t0008g0139 a0001c0001t0008g0140 a0001c0001t0008g0141 others(10): Show a0001c0001t0008g0139 a0001c0001t0008g0140 a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0008g0143 a0001c0001t0009g0026 a0001c0001t0009g0136 a0001c0001t0009g0138 a0001c0001t0040g0135 a0001c0001t0041g0133 a0001c0001t0042g0134 a0001c0001t0045g0130 a0001c0001t0053g0137	15	412	0.0364	18	c.21 others(29): Show c.2149_*2166dupTAATTTTTAAATGTTTAA	PACRGL	ENSG00000163138.19	transcript	ENST00000503585.6	protein_coding	9/9	2167	INFO_REALIGN_3_PRIME	chr4	TogoVar
PACRG_chr6_162722974_163320500	162787578	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	130	0.0077	18	c.157 others(37): Show c.157-26568_157-26567insATATATATATATATATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162947583	C C	CATATATA others(11): Show CATATATATAATCATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	130	0.0077	18	c.292 others(39): Show c.292-114559_292-114542dupTAATCATATATATATATA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162981305	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18522.hp2 HG02818.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0003g0014 a0001c0001t0001g0017 a0001c0001t0003g0014	2	130	0.0154	18	c.292 others(37): Show c.292-80844_292-80843insATATATATTTTTTTTTTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163122286	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG06807.hp1 HG02572.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0050 a0001c0001t0003g0119 a0001c0001t0002g0050 a0001c0001t0003g0119	2	130	0.0154	18	c.613 others(37): Show c.613+32879_613+32896dupACACACACACACACACAC	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163139695	T T	TAAAGTAA others(11): Show TAAAGTAATTGCAATTGCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03225.hp1 HG04184.hp2 others(1): Show HG01255.hp1 HG03225.hp1 HG04184.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0011	a0001c0001t0001g0031 a0001c0001t0002g0058 a0001c0001t0004g0070 others(1): Show a0001c0001t0001g0031 a0001c0001t0002g0058 a0001c0001t0004g0070 a0001c0004t0011g0034	4	130	0.0308	18	c.613 others(37): Show c.613+50299_613+50316dupAATTGCCAAAGTAATTGC	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163175744	A A	AAGGAGGA others(11): Show AAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp2 HG02451.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0003g0002 a0001c0001t0001g0089 a0001c0001t0003g0002	2	130	0.0154	18	c.613 others(37): Show c.613+86357_613+86374dupGAGGAGGAGGAGGAGGAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163177710	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18989.hp2 NA18522.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0060 a0001c0001t0013g0013 a0001c0001t0001g0060 a0001c0001t0013g0013	2	130	0.0154	18	c.613 others(37): Show c.613+88312_613+88329dupTTTTTTTTTTTTTTTTTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269762	G G	GAGAGAGA others(11): Show GAGAGAGAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp1 HG01346.hp2 others(16): Show HG00741.hp2 HG01255.hp1 HG01346.hp2 HG01361.hp2 HG01943.hp1 HG02004.hp2 HG02148.hp2 HG02572.hp2 HG02723.hp2 HG02809.hp2 HG03704.hp1 HG04184.hp2 NA18945.hp1 NA18955.hp2 NA18959.hp1 NA18965.hp2 NA18981.hp1 NA19063.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017	a0001c0001t0001g0092 a0001c0001t0001g0130 a0001c0001t0002g0041 others(16): Show a0001c0001t0001g0092 a0001c0001t0001g0130 a0001c0001t0002g0041 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0003g0007 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0082 a0001c0001t0004g0084 a0001c0001t0005g0072 a0001c0001t0006g0009 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0017g0085	19	130	0.1462	18	c.614 others(37): Show c.614-45062_614-45061insGAGAGACAGACAGACAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269867	G G	GAGAAAGA others(11): Show GAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	130	0.0077	18	c.614 others(37): Show c.614-44949_614-44948insGAAAGAAAGAAAGAAAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66136323	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01978.hp1 HG03579.hp1 others(1): Show HG01928.hp1 HG01978.hp1 HG03579.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0005g0207	4	322	0.0124	18	c.357 others(37): Show c.357-57149_357-57132dupACACACACACACACACAC	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202726	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	322	0.0031	18	c.445 others(35): Show c.445-7619_445-7618insAAAAAAAAAAAAAAAAAA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN1_chr6_34461076_34540223	34477358	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAGAAAGAG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	310	0.0032	18	c.-64 others(37): Show c.-64+11100_-64+11117dupGAAAGAGAGAAAGAAAGA	PACSIN1	ENSG00000124507.11	transcript	ENST00000244458.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACSIN1_chr6_34461076_34540223	34537644	C C	CCTCACTA others(11): Show CCTCACTAGCATCTCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	310	0.0032	18	c.51 others(29): Show c.5114_*5115insCTCACTAGCATCTCCCAG	PACSIN1	ENSG00000124507.11	transcript	ENST00000244458.7	protein_coding		2422		chr6	TogoVar
PACSIN2_chr22_42864773_43020149	42889373	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(47): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00597.hp1 HG01070.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01517.hp1 HG02015.hp1 HG02015.hp2 HG02135.hp1 HG02257.hp1 HG02293.hp1 HG02300.hp1 HG02683.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03017.hp1 HG03490.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18945.hp2 NA18971.hp1 NA18982.hp1 NA18995.hp2 NA19004.hp2 NA19030.hp1 NA19066.hp2 NA19068.hp2 NA19080.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0018 a0004c0007t0002	a0001c0001t0001g0043 a0001c0001t0001g0092 a0001c0001t0001g0096 others(47): Show a0001c0001t0001g0043 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0002g0067 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0116 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0257 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0015g0172 a0001c0001t0018g0101 a0004c0007t0002g0210	50	294	0.1701	18	c.454 others(33): Show c.454-593_454-576dupGTGTGTGTGTGTGTGTGT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	4/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42889373	T T	TACACACA others(11): Show TACACACACACATACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02717.hp1 NA21309.hp1 HG01433.hp2 HG02717.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0010 a0001c0003t0009 a0001c0003t0010	a0001c0003t0009g0085 a0001c0003t0010g0071 a0001c0003t0010g0125 a0001c0003t0009g0085 a0001c0003t0010g0071 a0001c0003t0010g0125	3	294	0.0102	18	c.454 others(33): Show c.454-576_454-575insGTGTGTATGTGTGTGTGT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	4/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42889398	A A	ACACACAC others(11): Show ACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0287 a0001c0001t0024g0287	1	294	0.0034	18	c.454 others(33): Show c.454-601_454-600insAGTGTGTGTGTGTGTGTG	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	4/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42982869	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	294	0.0034	18	c.-78 others(37): Show c.-78+32134_-78+32151dupTTTTTTTTTTTTTTTTTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42982888	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp1 HG01358.hp1 others(5): Show HG00741.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01993.hp1 HG03491.hp1 HG06807.hp1 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0014 a0001c0002t0003g0024 others(5): Show a0001c0002t0003g0011 a0001c0002t0003g0014 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0031 a0001c0002t0003g0034 a0001c0002t0003g0036 a0001c0002t0003g0037	8	294	0.0272	18	c.-78 others(37): Show c.-78+32132_-78+32133insGTTTTTTTTTTTTTTTTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42982888	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAACAAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA20752.hp1 HG00733.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0007 a0001c0002t0003g0008	2	294	0.0068	18	c.-78 others(37): Show c.-78+32132_-78+32133insGTTGTTTTTTTTTTTTTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar

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