Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MUC4_chr3_195741771_195816929	195776411	ACACCCAT others(113): Show ACACCCATACCTTCCACACCCATACCTTCCGCACCCATACCTTCCGCACC CATACCTTCCACACCCATACCTTCCGCATCCATACCTTCCACACCCATAC CTTCCACACCCATACCTTCCG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0110 a0110	a0110c0029 a0110c0029	a0110c0029t0005 a0110c0029t0005	a0110c0029t0005g0232 a0110c0029t0005g0232	1	249	0.0040	-120	c.129 others(21): Show c.12943+1772_12943+1891del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195777779	CCCATACC others(113): Show CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACATCCATACCTTCCACACCCATACCTTCCACACCCATACCTT CCACACCCATACCTTCCACAG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0105 a0105	a0105c0139 a0105c0139	a0105c0139t0001 a0105c0139t0001	a0105c0139t0001g0068 a0105c0139t0001g0068	1	249	0.0040	-120	c.129 others(19): Show c.12943+404_12943+523del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MXRA8_chr1_1347691_1363555	1351161	GGGGCTGG others(113): Show GGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02615.hp1 HG04184.hp1 HG01261.hp1 HG02615.hp1 HG04184.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0018 a0001c0001 a0010c0018	a0001c0001t0004 a0001c0001t0008 a0010c0018t0004 a0001c0001t0004 a0001c0001t0008 a0010c0018t0004	a0001c0001t0004g0016 a0001c0001t0008g0055 a0010c0018t0004g0029 a0001c0001t0004g0016 a0001c0001t0008g0055 a0010c0018t0004g0029	3	338	0.0089	-120	c.23 others(11): Show c.2323_*2442del		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					1529		chr1	TogoVar
MYZAP_chr15_57586904_57690364	57688184	TGTGTGTA others(113): Show TGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATATA TGTGTGTACAATATACACATATATTATGTGTGTACAATATACACATATAT TATGTGTGTACAATATACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA18965.hp2 NA19005.hp1 HG03540.hp1 NA18965.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0183 a0001c0001t0001g0253 a0001c0003t0004g0113 a0001c0001t0001g0183 a0001c0001t0001g0253 a0001c0003t0004g0113	3	352	0.0085	-120	c.36 others(11): Show c.3687_*3806del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2821		chr15	TogoVar
NACAD_chr7_45075437_45093969	45083410	CTGTCATA others(113): Show CTGTCATAGCGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGG GACACAGGCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGATCTGT GTCTTGTAGGGGCAGAGGCGG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG06807.hp1 NA18939.hp2 HG06807.hp1 NA18939.hp2	a0053 a0055 a0053 a0055	a0053c0054 a0055c0068 a0053c0054 a0055c0068	a0053c0054t0001 a0055c0068t0001 a0053c0054t0001 a0055c0068t0001	a0053c0054t0001g0085 a0055c0068t0001g0069 a0053c0054t0001g0085 a0055c0068t0001g0069	2	410	0.0049	-120	c.265 others(9): Show c.2650_2769del	p.Pro others(13): Show p.Pro884_Thr923del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2844/4836	2650/4689	884/1562			chr7	TogoVar
NACAD_chr7_45075437_45093969	45083587	GCGTGGCT others(113): Show GCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGATCTGTGTCTTGT AGGGGCAGAGGCGGTGTCATAGCGGAGTCCTGGGGTAAGGTGAGGCCCTC TTCAGCCTGCTGGGACACAAT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00738.hp1 HG01255.hp1 HG02738.hp1 others(2): Show HG00738.hp1 HG01255.hp1 HG02738.hp1 HG04115.hp1 NA20805.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0011 a0011c0012t0001g0011	5	410	0.0122	-120	c.247 others(9): Show c.2473_2592del	p.Ile others(13): Show p.Ile825_Thr864del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2667/4836	2473/4689	825/1562			chr7	TogoVar
NACAD_chr7_45075437_45093969	45083827	TCGTGGCT others(113): Show TCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGATCTGTGTCTTGT AGGGGCAGAGGCGGTGTCATAGCGGAGTCCTGGGGTAAGGTGAGGCCCTC TTCAGCCTGCTGGGACACAAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00423.hp2 HG03490.hp2 HG00423.hp2 HG03490.hp2	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0001 a0016c0020t0001	a0016c0020t0001g0021 a0016c0020t0001g0021	2	410	0.0049	-120	c.223 others(9): Show c.2233_2352del	p.Leu others(13): Show p.Leu745_Thr784del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2427/4836	2233/4689	745/1562			chr7	TogoVar
NACAD_chr7_45075437_45093969	45084104	ATCTGTGT others(113): Show ATCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCCTGGGGTA AGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAGCGTGGCTGCAGCCACA GGCTTTGGGGCTGACGAGAGT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02970.hp2 HG06807.hp1 HG02970.hp2 HG06807.hp1	a0044 a0053 a0044 a0053	a0044c0028 a0053c0054 a0044c0028 a0053c0054	a0044c0028t0002 a0053c0054t0001 a0044c0028t0002 a0053c0054t0001	a0044c0028t0002g0082 a0053c0054t0001g0085 a0044c0028t0002g0082 a0053c0054t0001g0085	2	410	0.0049	-120	c.195 others(9): Show c.1956_2075del	p.Glu others(13): Show p.Glu652_Thr691del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2150/4836	1956/4689	652/1562			chr7	TogoVar
NACAD_chr7_45075437_45093969	45084138	GCGGAGTC others(113): Show GCGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAG CGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGTTCTGTGTCTTGTA GGGGCAGAGGCGGTGTCATAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02698.hp1 HG03516.hp2 HG02698.hp1 HG03516.hp2	a0040 a0049 a0040 a0049	a0040c0057 a0049c0041 a0040c0057 a0049c0041	a0040c0057t0001 a0049c0041t0001 a0040c0057t0001 a0049c0041t0001	a0040c0057t0001g0057 a0049c0041t0001g0106 a0040c0057t0001g0057 a0049c0041t0001g0106	2	410	0.0049	-120	c.192 others(9): Show c.1922_2041del	p.Val others(13): Show p.Val641_Ser680del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2116/4836	1922/4689	641/1562			chr7	TogoVar
NACAD_chr7_45075437_45093969	45084218	CGAGAGTT others(113): Show CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCT GGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCA GCCACAGGCTTTGGGGCTGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02572.hp1 NA18992.hp1 HG02572.hp1 NA18992.hp1	a0036 a0062 a0036 a0062	a0036c0042 a0062c0045 a0036c0042 a0062c0045	a0036c0042t0001 a0062c0045t0001 a0036c0042t0001 a0062c0045t0001	a0036c0042t0001g0107 a0062c0045t0001g0035 a0036c0042t0001g0107 a0062c0045t0001g0035	2	410	0.0049	-120	c.184 others(9): Show c.1842_1961del	p.Ser others(13): Show p.Ser615_Ser654del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2036/4836	1842/4689	614/1562			chr7	TogoVar
NACAD_chr7_45075437_45093969	45084224	TTCTGTGT others(113): Show TTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTA AGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACA GGCTTTGGGGCTGATGAGAGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18960.hp2 NA18978.hp1 NA18960.hp2 NA18978.hp1	a0021 a0021	a0021c0019 a0021c0019	a0021c0019t0001 a0021c0019t0001	a0021c0019t0001g0020 a0021c0019t0001g0020	2	410	0.0049	-120	c.183 others(9): Show c.1836_1955del	p.Asp others(13): Show p.Asp612_Thr651del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2030/4836	1836/4689	612/1562			chr7	TogoVar
NACAD_chr7_45075437_45093969	45084258	ACGGAGTC others(113): Show ACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAT CGTGGCTGCAGCCACAGGCTTTGGGGCTGATGAGAGATCTGTGTCTTGTA GGGGCAGAGGCGGTGTCATAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01517.hp2 HG01517.hp2	a0028 a0028	a0028c0069 a0028c0069	a0028c0069t0001 a0028c0069t0001	a0028c0069t0001g0070 a0028c0069t0001g0070	1	410	0.0024	-120	c.180 others(9): Show c.1802_1921del	p.Ala others(13): Show p.Ala601_Ser640del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	1996/4836	1802/4689	601/1562			chr7	TogoVar
NFATC1_chr18_79390930_79534323	79444650	CGCACACA others(113): Show CGCACACACAGGCACCCCTGTGGGCACCCACGTGCCCGACCCCGCAGACC ACACCGGCACTGCACACACAGGCACCCCCGTGGGCACACACGTGCCCGAC CCCACAGACCACACCGGCGCT	C C	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0073	1	322	0.0031	-120	c.138 others(19): Show c.1387-4114_1387-3995del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532188	TCGGCAGA others(113): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01952.hp1 NA19004.hp2 others(1): Show HG01255.hp1 HG01952.hp1 NA19004.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0066 others(1): Show a0001c0001 a0001c0006 a0001c0066 a0002c0003	a0001c0001t0003 a0001c0006t0002 a0001c0066t0041 others(1): Show a0001c0001t0003 a0001c0006t0002 a0001c0066t0041 a0002c0003t0001	a0001c0001t0003g0145 a0001c0006t0002g0307 a0001c0066t0041g0007 others(1): Show a0001c0001t0003g0145 a0001c0006t0002g0307 a0001c0066t0041g0007 a0002c0003t0001g0209	4	322	0.0124	-120	c.46 others(11): Show c.4612_*4731del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding					2866		chr18	TogoVar
NINJ2_chr12_559296_668445	582274	TGTGAATG others(113): Show TGTGAATGAATGAATGGACGCAGGCAGGCAGGCATGCTAGAGTGAATGAA TGAATGGACGCAGGCAGGCAGGCATGCTAGAGTGAATGAATGAATGGGCG CAGGCAGGCAGGCATGCTAGA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG01081.hp2 others(30): Show HG00423.hp2 HG00609.hp2 HG01081.hp2 HG01168.hp2 HG01255.hp1 HG01261.hp1 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp2 HG02622.hp1 HG02818.hp2 HG02970.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03491.hp2 HG03540.hp1 HG03831.hp1 HG03942.hp1 HG04204.hp1 NA18953.hp1 NA18961.hp2 NA18983.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(30): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0107 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0247 a0001c0001t0001g0268 a0001c0001t0001g0337 a0001c0001t0001g0368 a0001c0001t0001g0382 a0001c0001t0001g0384 a0001c0001t0001g0396 a0001c0001t0001g0397 a0001c0001t0002g0057 a0001c0001t0002g0115 a0001c0001t0002g0118	33	404	0.0817	-120	c.34- others(17): Show c.34-16216_34-16097del		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NKAIN2_chr6_123798865_124830640	123976284	CATATATA others(113): Show CATATATATGTTTCCATATATATGTTTCCATATATATATATGTTCCCATA TATATATATGTTCCCATATATATATATATATATATTCCCATATATATATA TATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02615.hp2 others(6): Show HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02895.hp2 HG03041.hp2 HG03516.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0032 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0004g0061 a0001c0001t0006g0016 a0001c0001t0007g0046 a0001c0002t0001g0008 a0001c0002t0001g0025	9	66	0.1364	-120	c.54+ others(19): Show c.54+172039_54+172158del		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NKD1_chr16_50543396_50654249	50563728	GCATGGAG others(113): Show GCATGGAGAAGACCCTGTGTGTCAGGCTAAGCTCCATCCTCAGTGGGCAC AGCCCTGGATGCATGGAGAAGACCCTGTGTGTCAGGCTAAACTCCATCCT CAGTGGGCACAGCCCTGGATT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG06807.hp1 HG02451.hp2 HG02615.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0054 a0001c0002t0008 a0001c0002t0054	a0001c0002t0008g0024 a0001c0002t0008g0025 a0001c0002t0054g0026 a0001c0002t0008g0024 a0001c0002t0008g0025 a0001c0002t0054g0026	3	212	0.0142	-120	c.192 others(19): Show c.192+14203_192+14322del		NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
NKD2_chr5_1003802_1043943	1024924	GTGGGCGT others(113): Show GTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTC TCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGT TGTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01168.hp2 others(26): Show HG00140.hp2 HG00408.hp1 HG01168.hp2 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01978.hp1 HG02132.hp1 HG02145.hp2 HG02258.hp2 HG02622.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp2 HG03453.hp2 HG03579.hp2 HG03834.hp1 HG04228.hp1 NA18747.hp2 NA18951.hp2 NA18965.hp1 NA18984.hp1 NA18997.hp2 NA19009.hp2 NA19012.hp1 NA19054.hp1 NA19057.hp2 NA20805.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0010 a0001c0014 others(1): Show a0001c0001 a0001c0010 a0001c0014 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0010t0001 a0001c0014t0001 a0012c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0126 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0002g0042 a0001c0001t0003g0013 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0005g0081 a0001c0001t0006g0265 a0001c0001t0012g0123 a0001c0001t0014g0149 a0001c0010t0001g0187 a0001c0014t0001g0012 a0012c0021t0001g0036	29	319	0.0909	-120	c.142 others(17): Show c.142-7227_142-7108del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9						chr5	TogoVar
NLRP4_chr19_55831540_55886855	55850053	AGCTGCGG others(113): Show AGCTGCGGTGGAATTTCCGAGACTGCGGTGTAATTTCCGTGGCTGCGGTG TAATTACCGTAGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGA GGCTGCGGTGTAATTTCCGTG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18980.hp2 NA18945.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0271 a0001c0001t0002g0272	2	424	0.0047	-120	c.-65 others(17): Show c.-65-1953_-65-1834del		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850187	TTCCGTGG others(113): Show TTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGTGGCT GCGGTGTAATTTCCGAGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAAT GTCCGTGGCTGCGGTGTAATG	T T	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0379 a0002c0002t0008g0379	1	424	0.0024	-120	c.-65 others(17): Show c.-65-1804_-65-1685del		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850332	AGGCTGCG others(113): Show AGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAATTTCCGAGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATTTCCGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0017 a0001c0005t0009g0017	1	424	0.0024	-120	c.-65 others(17): Show c.-65-1569_-65-1450del		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850687	GTCCGTGG others(113): Show GTCCGTGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTTCCGAGGCT GCGGTGTACTTCCCGAGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAAT TCCCGAGGCTGCGGTGTAATT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0399 a0002c0002t0010g0399	1	424	0.0024	-120	c.-65 others(17): Show c.-65-1324_-65-1205del		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851232	AGGCTGCG others(113): Show AGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATGTCCGT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG00673.hp2 others(46): Show HG00544.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01106.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18968.hp1 NA18972.hp1 NA18978.hp2 NA18986.hp2 NA18993.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0005 a0001c0006 others(12): Show a0001c0001 a0001c0005 a0001c0006 a0001c0011 a0001c0025 a0002c0002 a0002c0009 a0002c0016 a0003c0007 a0003c0008 a0004c0004 a0004c0013 a0005c0010 a0005c0012 a0005c0020	a0001c0001t0002 a0001c0001t0004 a0001c0005t0002 others(22): Show a0001c0001t0002 a0001c0001t0004 a0001c0005t0002 a0001c0005t0003 a0001c0006t0002 a0001c0011t0004 a0001c0025t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0012 a0002c0002t0025 a0002c0009t0002 a0002c0016t0004 a0002c0016t0006 a0002c0016t0014 a0003c0007t0002 a0003c0008t0002 a0004c0004t0001 a0004c0013t0001 a0005c0010t0002 a0005c0012t0001 a0005c0012t0002 a0005c0020t0002 a0005c0020t0014	a0001c0001t0002g0260 a0001c0001t0004g0129 a0001c0005t0002g0136 others(46): Show a0001c0001t0002g0260 a0001c0001t0004g0129 a0001c0005t0002g0136 a0001c0005t0003g0207 a0001c0005t0003g0208 a0001c0006t0002g0266 a0001c0011t0004g0159 a0001c0011t0004g0173 a0001c0025t0001g0130 a0001c0025t0001g0132 a0002c0002t0002g0274 a0002c0002t0003g0187 a0002c0002t0003g0196 a0002c0002t0003g0205 a0002c0002t0003g0216 a0002c0002t0006g0254 a0002c0002t0006g0255 a0002c0002t0006g0256 a0002c0002t0006g0257 a0002c0002t0006g0258 a0002c0002t0006g0259 a0002c0002t0006g0263 a0002c0002t0006g0279 a0002c0002t0006g0281 a0002c0002t0006g0288 a0002c0002t0012g0220 a0002c0002t0025g0137 a0002c0009t0002g0276 a0002c0016t0004g0158 a0002c0016t0006g0133 a0002c0016t0006g0135 a0002c0016t0014g0215 a0003c0007t0002g0270 a0003c0008t0002g0253 a0004c0004t0001g0131 a0004c0013t0001g0076 a0004c0013t0001g0077 a0004c0013t0001g0081 a0004c0013t0001g0157 a0005c0010t0002g0244 a0005c0010t0002g0245 a0005c0010t0002g0247 a0005c0010t0002g0268 a0005c0010t0002g0269 a0005c0012t0001g0021 a0005c0012t0002g0264 a0005c0012t0002g0277 a0005c0020t0002g0316 a0005c0020t0014g0211	49	424	0.1156	-120	c.-65 others(15): Show c.-65-769_-65-650del		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993487	CTCTCCCC others(113): Show CTCTCCCCCCTCCCCTCCTCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCTCCCCTCCTCTCCT CCCCCCTCCTCCTCTCAACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01081.hp1 HG01123.hp1 others(8): Show HG00597.hp1 HG01081.hp1 HG01123.hp1 HG01952.hp2 HG02071.hp1 HG02486.hp1 HG03490.hp1 HG03654.hp1 HG03669.hp2 NA18978.hp2 NA18981.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0013 a0007c0009	a0001c0001t0005 a0001c0001t0009 a0001c0001t0018 others(5): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0018 a0001c0002t0020 a0002c0003t0001 a0003c0004t0005 a0004c0013t0001 a0007c0009t0002	a0001c0001t0005g0004 a0001c0001t0009g0083 a0001c0001t0018g0091 others(7): Show a0001c0001t0005g0004 a0001c0001t0009g0083 a0001c0001t0018g0091 a0001c0002t0020g0108 a0002c0003t0001g0275 a0002c0003t0001g0289 a0002c0003t0001g0327 a0003c0004t0005g0206 a0004c0013t0001g0005 a0007c0009t0002g0320	11	350	0.0314	-120	c.55 others(11): Show c.5575_*5694del		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4859		chr19	TogoVar
NPIPB11_chr16_29376310_29411711	29377676	CGAGACCA others(113): Show CGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACA AAAATTAGCTGGATGTGGTGGCAGGTTCCTGTAATTCCAGCTACTCAGGA AGCTGAGGCAGGAGAATTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0089 a0089	a0089c0153 a0089c0153	a0089c0153t0001 a0089c0153t0001	a0089c0153t0001g0071 a0089c0153t0001g0071	1	428	0.0023	-120	c.36 others(11): Show c.3650_*3769del		NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding					3633		chr16	TogoVar
NSMF_chr9_137442570_137464334	137450479	TGCCTCTT others(113): Show TGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTC CCCCACCACACACCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCC CCTTGATCTCCCCCACCACAC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02630.hp2 HG02647.hp1 others(10): Show HG02300.hp2 HG02630.hp2 HG02647.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03209.hp1 HG03453.hp1 HG03540.hp2 NA18946.hp2 NA19067.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0005g0113	13	414	0.0314	-120	c.123 others(17): Show c.1237-344_1237-225del		NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15						chr9	TogoVar
NTS_chr12_85869295_85887992	85871408	ATTTTCAG others(113): Show ATTTTCAGCAATTACCTAATAAAGGTCTGACATAAGTAACAGTACAAGCT TAGAAATCTACCTACTTTAGAGATGTTGTAATCAACAGGTACCTAACAGG TAACATCCACTTAAGAAGGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	420	0.0024	-120	c.-29 others(11): Show c.-2995_-2876del		NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding					2886		chr12	TogoVar
NUP62CL_chrX_107118427_107211433	107204773	TTTAAATA others(113): Show TTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAATTATT TAAATAAATTTTAAATAAATTATTTATTTAAATAAATTTTAAATAAATTA TTTAAATAAATTTTAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	280	0.0036	-120	c.-92 others(17): Show c.-92+1380_-92+1499del		NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8						chrX	TogoVar
NXN_chr17_794310_984776	894110	TCCCTGGA others(113): Show TCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAG CATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAG CCAGAGGAAGCATCTCAAACG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02155.hp1 HG02622.hp1 others(5): Show HG01243.hp2 HG02155.hp1 HG02622.hp1 HG02630.hp1 HG03130.hp2 HG03453.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0002t0009 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0009 a0001c0004t0001	a0001c0001t0001g0017 a0001c0001t0001g0069 a0001c0001t0001g0124 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0069 a0001c0001t0001g0124 a0001c0001t0001g0222 a0001c0001t0007g0023 a0001c0002t0009g0008 a0001c0002t0009g0009 a0001c0004t0001g0235	8	242	0.0331	-120	c.361 others(19): Show c.361-68152_361-68033del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OGFR_chr20_62799835_62819000	62813162	GGAGCCCA others(113): Show GGAGCCCATCGGAGACCCCAGGCCCCAGCCCAGCAGGACCTGCAGGGGAC GAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCAGCAGGACC TGCAGGGGACGAGCCAGCCGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00639.hp2 HG00642.hp2 HG03492.hp1 HG00639.hp2 HG00642.hp2 HG03492.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0002 a0007c0016t0002	a0007c0016t0002g0001 a0007c0016t0002g0033 a0007c0016t0002g0001 a0007c0016t0002g0033	3	422	0.0071	-120	c.157 others(9): Show c.1573_1692del	p.Ser others(13): Show p.Ser525_Pro564del	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding	7/7	1598/2410	1573/2034	525/677		INFO_REALIGN_3_PRIME	chr20	TogoVar
OGFR_chr20_62799835_62819000	62813193	AGCAGGAC others(113): Show AGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAG GCCCCCGCCCAGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCG GAGACCCCAGGCCCCCGCCCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01257.hp2 HG03491.hp1 HG01257.hp2 HG03491.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0002 a0007c0016t0002	a0007c0016t0002g0001 a0007c0016t0002g0001	2	422	0.0047	-120	c.163 others(9): Show c.1633_1752del	p.Arg others(13): Show p.Arg545_Pro584del	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding	7/7	1658/2410	1633/2034	545/677		INFO_REALIGN_3_PRIME	chr20	TogoVar
OGFR_chr20_62799835_62819000	62813271	CGAGCCAG others(113): Show CGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCGGCAGGAC CTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCAGC CCGGCAGGACCTACAAGGGAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00323.hp2 HG00609.hp1 others(49): Show HG00099.hp2 HG00323.hp2 HG00609.hp1 HG00738.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01993.hp2 HG02015.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp1 NA18944.hp2 NA18957.hp2 NA18960.hp1 NA18966.hp2 NA18995.hp1 NA18999.hp1 NA19011.hp2 NA19060.hp1 NA19079.hp1 NA19084.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0004 a0041 a0004 a0041	a0004c0004 a0004c0005 a0004c0026 others(1): Show a0004c0004 a0004c0005 a0004c0026 a0041c0060	a0004c0004t0001 a0004c0005t0001 a0004c0026t0001 others(1): Show a0004c0004t0001 a0004c0005t0001 a0004c0026t0001 a0041c0060t0001	a0004c0004t0001g0003 a0004c0004t0001g0039 a0004c0004t0001g0040 others(17): Show a0004c0004t0001g0003 a0004c0004t0001g0039 a0004c0004t0001g0040 a0004c0004t0001g0049 a0004c0004t0001g0069 a0004c0004t0001g0081 a0004c0004t0001g0088 a0004c0004t0001g0127 a0004c0005t0001g0012 a0004c0005t0001g0014 a0004c0005t0001g0037 a0004c0005t0001g0039 a0004c0005t0001g0045 a0004c0005t0001g0065 a0004c0005t0001g0092 a0004c0005t0001g0111 a0004c0005t0001g0132 a0004c0005t0001g0134 a0004c0026t0001g0055 a0041c0060t0001g0010	52	422	0.1232	-120	c.175 others(9): Show c.1753_1872del	p.Ser others(13): Show p.Ser585_Pro624del	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding	7/7	1778/2410	1753/2034	585/677		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPCML_chr11_132409981_133537501	133433145	TAAAAATA others(113): Show TAAAAATATTACTAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	68	0.0147	-120	c.61+ others(17): Show c.61+98999_61+99118del		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133458208	GTATATAT others(113): Show GTATATATACACATATATACACGTGTGTGTATATATACACATATATATAC ACGTGTGTGTATATATACACACATATATACACGTGTGTGTATATATATAC ACATATATACACGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG01891.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0030 a0001c0001t0009g0064 a0001c0001t0003g0030 a0001c0001t0009g0064	2	68	0.0294	-120	c.61+ others(17): Show c.61+73936_61+74055del		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OR2V2_chr5_181142586_181164285	181160698	TTGGGGGT others(113): Show TTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACG AGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGG GGCCAGGACGAGCATCGTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0077 a0003c0003t0014g0077	1	424	0.0024	-120	c.48 others(11): Show c.4809_*4928del		OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding					1414		chr5	TogoVar
OR2V2_chr5_181142586_181164285	181160788	CTGGGGGT others(113): Show CTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACG AGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTCGTTGGGGGTGG GGCCAGGACGAGCATCGTCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0003 a0002c0002t0006g0003	1	424	0.0024	-120	c.48 others(11): Show c.4899_*5018del		OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding					1504		chr5	TogoVar
OSBPL5_chr11_3082107_3170310	3103784	GTCCCTTC others(113): Show GTCCCTTCCTGCCTCTGCAGCCCTCTTCCTGCCTGCGCAGCCCCCTTCCA GCCTCTGCAGCCCCTTTCCAGTCTGCGCAGCCCCCTTCCTGCCTCTGTAG CCCCATTCCTGCCTCTGCAGC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA19070.hp2 HG02004.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0038 a0001c0001t0027g0101 a0001c0001t0001g0038 a0001c0001t0027g0101	2	326	0.0061	-120	c.124 others(17): Show c.1244+289_1244+408del		OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21						chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3103785	TCCCTTCC others(113): Show TCCCTTCCTGCCTCTGCAGCCCTCTTCCTGCCTGCGCAGCCCCCTTCCAG CCTCTGCAGCCCCTTTCCAGTCTGCGCAGCCCCCTTCCTGCCTCTGTAGC CCCATTCCTGCCTCTGCAGCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03579.hp1 HG02818.hp1 HG03579.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0017 a0005c0013t0017	a0005c0013t0017g0053 a0005c0013t0017g0120 a0005c0013t0017g0053 a0005c0013t0017g0120	2	326	0.0061	-120	c.124 others(17): Show c.1244+288_1244+407del		OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21						chr11	TogoVar
OSBPL6_chr2_178189512_178407893	178326989	GGAAACTT others(113): Show GGAAACTTTGGGGGCTCTGGGGAAAGGGTGGGGGGTGGCGAGGGATAAAA GACTACACAGTGGGTACATTGTACACTGCTTGGGTGATGGGTGCACCAAA GTCTCAGAAATCACCACTAAA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0086 a0001c0004t0086	a0001c0004t0086g0092 a0001c0004t0086g0092	1	200	0.0050	-120	c.196 others(17): Show c.196-1263_196-1144del		OSBPL6	ENSG00000079156.17	transcript	ENST00000190611.9	protein_coding	4/24					INFO_REALIGN_3_PRIME	chr2	TogoVar
P2RX5_chr17_3668227_3701155	3685986	CCAGCCTG others(113): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGG CCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	362	0.0028	-120	c.981 others(17): Show c.981+1906_981+2025del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RY8_chrX_1457581_1542185	1514431	CCTTCTCT others(113): Show CCTTCTCTTCCCTTCCCTTCCCTCCCTTCCCCTCCTTTTCCTTTCCTTTT CCTTTTCCTTTCCCTTCCCTCCCTTCCCTTCCCTTTCCTCCCCTCCCTTC CCTTCCCTTCCTTTCCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG03579.hp2 others(1): Show HG02451.hp1 HG03195.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0024 a0001c0001t0029 a0001c0003t0001 others(1): Show a0001c0001t0024 a0001c0001t0029 a0001c0003t0001 a0001c0003t0003	a0001c0001t0024g0070 a0001c0001t0029g0054 a0001c0003t0001g0048 others(1): Show a0001c0001t0024g0070 a0001c0001t0029g0054 a0001c0003t0001g0048 a0001c0003t0003g0041	4	114	0.0351	-120	c.-25 others(19): Show c.-25+22370_-25+22489del		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
PACRG_chr6_162722974_163320500	163269853	GAAAGAGA others(113): Show GAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02055.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0036 a0001c0001t0003g0016 a0001c0001t0003g0036	2	130	0.0154	-120	c.614 others(19): Show c.614-44972_614-44853del		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PAH_chr12_102831889_102922244	102835622	CATACATA others(113): Show CATACATATATGTGCATACGTACATATGCACATACATATATGTGCATACG TACATATGCATATACATATATGTGCATACGTACATATGCATATACATATA TGTGCATACGTACATATGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03471.hp1 HG03486.hp2 others(1): Show HG01109.hp1 HG03471.hp1 HG03486.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0017 a0001c0004 a0003c0017	a0001c0004t0001 a0003c0017t0001 a0001c0004t0001 a0003c0017t0001	a0001c0004t0001g0103 a0001c0004t0001g0143 a0001c0004t0001g0144 others(1): Show a0001c0004t0001g0103 a0001c0004t0001g0143 a0001c0004t0001g0144 a0003c0017t0001g0142	4	312	0.0128	-120	c.34 others(11): Show c.3433_*3552del		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding					1266		chr12	TogoVar
PAQR5_chr15_69293912_69412780	69300840	GTTTTCTT others(113): Show GTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTC TTTCTTTCCTTCTTTCTTTCT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03704.hp1 HG02602.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0007 a0001c0001t0001g0008	2	284	0.0070	-120	c.-27 others(19): Show c.-277+1787_-277+1906del		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69383764	CTCATGGT others(113): Show CTCATGGTGGAGGGTGAGTGGGCCTTTGTGTTCATGGTGGAGGGTGAGTG GGCCTTTGTGTTCATGGTGGAGGGTGAGTGGGCCTTTGTGTTCATGGTGG AGGGTGAGTGGGCCTTTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02572.hp1 HG02922.hp2 others(3): Show HG01496.hp1 HG02572.hp1 HG02922.hp2 HG03486.hp2 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0037 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0240 a0001c0001t0001g0241	6	284	0.0211	-120	c.180 others(15): Show c.180-832_180-713del		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PCNT_chr21_46319156_46450769	46413022	CCCCGGGA others(113): Show CCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG CACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACGAGGCCCA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0044 a0044	a0044c0094 a0044c0094	a0044c0094t0001 a0044c0094t0001	a0044c0094t0001g0068 a0044c0094t0001g0068	1	332	0.0030	-120	c.615 others(17): Show c.6150+112_6150+231del		PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413104	GGCAGCAA others(113): Show GGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGG CTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCAC CCGGGAGAGGCTGGACACGCA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0003 a0004c0022t0003	a0004c0022t0003g0093 a0004c0022t0003g0093	1	332	0.0030	-120	c.615 others(17): Show c.6150+131_6150+250del		PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413241	AGGGGGAA others(113): Show AGGGGGAAGGCGTGAGGCCCCCCTGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAACGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACAC GCGGCAGCAAGGTGTGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp2 HG01515.hp1 others(10): Show HG01069.hp1 HG01099.hp2 HG01515.hp1 HG01517.hp1 HG02004.hp2 HG02055.hp2 HG02486.hp2 HG02895.hp1 HG03195.hp2 HG03710.hp1 NA18906.hp2 NA20752.hp2 NA21309.hp2	a0004 a0006 a0009 others(3): Show a0004 a0006 a0009 a0010 a0012 a0016	a0004c0004 a0006c0008 a0006c0073 others(4): Show a0004c0004 a0006c0008 a0006c0073 a0009c0011 a0010c0010 a0012c0013 a0016c0024	a0004c0004t0001 a0006c0008t0001 a0006c0073t0001 others(4): Show a0004c0004t0001 a0006c0008t0001 a0006c0073t0001 a0009c0011t0001 a0010c0010t0001 a0012c0013t0004 a0016c0024t0001	a0004c0004t0001g0096 a0006c0008t0001g0083 a0006c0008t0001g0084 others(10): Show a0004c0004t0001g0096 a0006c0008t0001g0083 a0006c0008t0001g0084 a0006c0008t0001g0085 a0006c0008t0001g0086 a0006c0008t0001g0088 a0006c0073t0001g0095 a0009c0011t0001g0076 a0009c0011t0001g0077 a0010c0010t0001g0220 a0012c0013t0004g0331 a0016c0024t0001g0117 a0016c0024t0001g0118	13	332	0.0392	-120	c.615 others(17): Show c.6150+285_6150+404del		PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46					INFO_REALIGN_3_PRIME	chr21	TogoVar
PIEZO1_chr16_88710338_88790220	88771881	GTCCACCC others(113): Show GTCCACCCGCGGCCCCAGGCCCTCCTGAGACTCTATGCCCGTCCACCCGC GGCCCCAGGCCCACCTGAGACTCTATGCCCGTCCACCCGCGGCCCCAGGC CCTCCTGAGACTCTATGCCCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00642.hp2 others(15): Show HG00544.hp1 HG00609.hp1 HG00642.hp2 HG01243.hp2 HG01258.hp1 HG01496.hp2 HG01993.hp2 HG02132.hp1 NA18945.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18995.hp2 NA19010.hp2 NA19054.hp1 NA19070.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0012 others(2): Show a0001 a0002 a0012 a0031 a0099	a0001c0002 a0001c0005 a0001c0046 others(7): Show a0001c0002 a0001c0005 a0001c0046 a0002c0003 a0002c0009 a0002c0017 a0002c0094 a0012c0067 a0031c0024 a0099c0039	a0001c0002t0001 a0001c0002t0018 a0001c0005t0001 others(8): Show a0001c0002t0001 a0001c0002t0018 a0001c0005t0001 a0001c0046t0001 a0002c0003t0001 a0002c0009t0001 a0002c0017t0001 a0002c0094t0001 a0012c0067t0001 a0031c0024t0002 a0099c0039t0002	a0001c0002t0001g0052 a0001c0002t0001g0059 a0001c0002t0001g0060 others(15): Show a0001c0002t0001g0052 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0110 a0001c0002t0018g0063 a0001c0005t0001g0111 a0001c0046t0001g0108 a0002c0003t0001g0065 a0002c0009t0001g0056 a0002c0009t0001g0062 a0002c0017t0001g0213 a0002c0094t0001g0257 a0012c0067t0001g0107 a0031c0024t0002g0117 a0031c0024t0002g0118 a0099c0039t0002g0109	18	282	0.0638	-120	c.64+ others(17): Show c.64+12900_64+13019del		PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	1/50						chr16	TogoVar
PIGQ_chr16_564968_589109	579427	CCTAGAGG others(113): Show CCTAGAGGTGCCCCGGGCCCAGAGACTAGAGATGCCCCGGGCCCGGAGAC TAGAGGTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTA GAGGTGCCCCGGGCCCGGAGA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19080.hp2 NA19081.hp2 others(1): Show HG00609.hp1 NA19080.hp2 NA19081.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0275 a0001c0002t0002g0317 a0001c0002t0002g0010 a0001c0002t0002g0275 a0001c0002t0002g0317	4	408	0.0098	-120	c.133 others(17): Show c.1335+267_1335+386del		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr16	TogoVar

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