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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NAALADL2_chr3_174854334_175815548	175698215	ATATGTGT others(105): Show ATATGTGTATATATGTATGTATACATATATATGTGTATATATGTATGTAT ACATATATATGTGTATATATGTATGTATACATATATATGTGTATATATGT ATGTGTATTTATG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0010 a0006c0010t0010	a0006c0010t0010g0054 a0006c0010t0010g0054	1	63	0.0159	-112	c.189 others(21): Show c.1897-39071_1897-38960del	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCBP2L_chrX_107772733_107800829	107782214	TATATATA others(105): Show TATATATAAATATATATATATAAATATATATATATAAATATATATATAAA TATATATATATAAATATATATAAATATATATATATAAATATATATATAAA TATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02630.hp2 others(1): Show HG01109.hp1 HG02257.hp1 HG02630.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0199 a0001c0002t0004g0230 a0001c0002t0004g0231 others(1): Show a0001c0002t0004g0199 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0234	4	298	0.0134	-112	c.-73 others(17): Show c.-73+4364_-73+4475del	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCS1_chr9_130167404_130242303	130221771	CACATAAA others(105): Show CACATAAATATAAATTATGTATATATAAATATATATACATAAATATAAAT TATGTATATATAAATATATATACATAAATATAAATTATGTATATATAAAT ATATATACATAAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03486.hp2 NA21309.hp2 HG03195.hp2 HG03486.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0072 a0001c0002t0113 a0001c0002t0017 a0001c0002t0072 a0001c0002t0113	a0001c0002t0017g0317 a0001c0002t0072g0191 a0001c0002t0113g0292 a0001c0002t0017g0317 a0001c0002t0072g0191 a0001c0002t0113g0292	3	345	0.0087	-112	c.308 others(15): Show c.308-784_308-673del	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEDD8_chr14_24211857_24237367	24213988	ATGCACCT others(105): Show ATGCACCTGAAAATGCCTTCTTGATTTCCTTTCAGTTTAGGCCTCAAATG GGCTCTCCTCAAGGCTGGACCTCAAAGGCCCAGTTTGGGCCTTCGCAAAT GTCTCTAACCCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	416	0.0024	-112	c.30 others(11): Show c.3027_*3138del	NEDD8	ENSG00000129559.13	transcript	ENST00000250495.10	protein_coding		2868		chr14	TogoVar
NEU4_chr2_241804193_241822413	241806420	TCCCTCCC others(105): Show TCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	317	0.0032	-112	c.-28 others(11): Show c.-2857_-2746del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2772		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807383	CCTCACGC others(105): Show CCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0163 a0002c0003t0002g0163	1	316	0.0032	-112	c.-18 others(11): Show c.-1894_-1783del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1809		chr2	TogoVar
NPY4R2_chr10_47913662_47928524	47918749	GTGCGGCC others(105): Show GTGCGGCCGGGGGCGGGGCCGAGTGGGCCCCGGTACGAACCCTCCGGGAA GCCGGGCGCGCTGCCTGCCCTTGGCCCGGGGCGCAGAGCGTCACACTGGA TCTGGGGAGCATC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0005 a0007c0011t0005	a0007c0011t0005g0034 a0007c0011t0005g0034	1	276	0.0036	-112	c.-40 others(9): Show c.-408_-297del	NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding	1/3	3127		chr10	TogoVar
NTN5_chr19_48656407_48678017	48669573	CCATCACC others(105): Show CCATCACCACCACGACCACCATCACCACCACCACCATCATCACCACCATC ACCACCACCAGTCATCACCATCACCACCACCAACACCACCACCATCACCA TCATCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0097 a0007c0013t0002g0097	1	275	0.0036	-112	c.631 others(15): Show c.631+671_631+782del	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NXN_chr17_794310_984776	942476	ACCAAACA others(105): Show ACCAAACACCTCCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCA TGAACTCACATCACACCTTCCTGGATTTACGGTGAACAAGATTCCAGGGT GCAGCCATGAATT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0232 a0001c0003t0002g0232	1	240	0.0042	-112	c.360 others(19): Show c.360+36731_360+36842del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR2B11_chr1_247444182_247463104	247458393	TGTGTGTG others(105): Show TGTGTGTGTTGAACTCTTTAAGGCTGGTGCGTGGTGTGTGTGTGTGTGTT GAACTCTTTAGGGCTGGTGCATGGTGTGTGTGTGTGTTGAACTCTTTAGG GCTGGTGCGTGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0010 a0010	a0010c0032 a0010c0032	a0010c0032t0164 a0010c0032t0164	a0010c0032t0164g0214 a0010c0032t0164g0214	1	476	0.0021	-112	c.-39 others(11): Show c.-3949_-3838del	OR2B11	ENSG00000177535.10	transcript	ENST00000641149.2	protein_coding		290		chr1	TogoVar
OTUD7A_chr15_31470398_31875673	31511162	AACATACA others(105): Show AACATACATATGTATATCTATATGTAACACACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACATACATATGTATAT CTATATGTAACAC	A A	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0100 a0002c0003t0008g0100	1	221	0.0045	-112	c.894 others(17): Show c.894-7456_894-7345del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P4HA1_chr10_73002217_73101866	73017098	GATCTATA others(105): Show GATCTATATCTACAGATGTATATATAGATATCTATATCTACAGATGTATA TATAGATATCTATATCTACAGATGTATATATAGATATCTATATCTACAGA TGTATATATAGAT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG01891.hp1 others(16): Show HG00735.hp1 HG01243.hp1 HG01891.hp1 HG02145.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0013 a0001c0002t0004 a0001c0002t0013	a0001c0002t0004g0061 a0001c0002t0004g0062 a0001c0002t0004g0063 others(16): Show a0001c0002t0004g0061 a0001c0002t0004g0062 a0001c0002t0004g0063 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0004g0069 a0001c0002t0004g0070 a0001c0002t0004g0071 a0001c0002t0004g0072 a0001c0002t0004g0073 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0004g0076 a0001c0002t0004g0077 a0001c0002t0004g0078 a0001c0002t0013g0079	19	169	0.1124	-112	c.124 others(17): Show c.1249-311_1249-200del	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	10/14			chr10	TogoVar
PACRG_chr6_162722974_163320500	163269853	GAAAGAGA others(105): Show GAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19063.hp2 HG02572.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0108 a0001c0001t0001g0111	2	113	0.0177	-112	c.614 others(19): Show c.614-44972_614-44861del	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PAQR5_chr15_69293912_69412780	69300645	CTTTCTTT others(105): Show CTTTCTTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTC TCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCATTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0130 a0001c0001t0010g0130	1	278	0.0036	-112	c.-27 others(19): Show c.-277+1590_-277+1701del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8			chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300830	CCTTTAGT others(105): Show CCTTTAGTTCGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTC TCTCTCTCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	247	0.0040	-112	c.-27 others(19): Show c.-277+1779_-277+1890del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PCGF3_chr4_700832_775089	746123	CCCGGGGG others(105): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0048 a0001c0001t0013g0048	1	350	0.0029	-112	c.462 others(17): Show c.462+1438_462+1549del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746408	CCCCGGGG others(105): Show CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	363	0.0028	-112	c.462 others(17): Show c.462+1784_462+1895del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746920	CCCGGGGG others(105): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0063 a0001c0001t0014g0063	1	358	0.0028	-112	c.462 others(17): Show c.462+2235_462+2346del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCNT_chr21_46319156_46450769	46395394	GGGACTCA others(105): Show GGGACTCAGCAGCAGAGACTCCATCTCAGAAATAATAGTAATAAAATAGA GACTTCAGGACTCAGCAGCAGAGACTCCATCTCAGAAATAATAGTAATAA AATAGAGACTTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00597.hp1 others(100): Show HG00099.hp1 HG00140.hp1 HG00597.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02451.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19081.hp2 NA19085.hp1 NA19240.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0005 others(17): Show a0001 a0002 a0005 a0007 a0008 a0018 a0021 a0029 a0035 a0036 a0045 a0049 a0050 a0051 a0056 a0059 a0060 a0062 a0063 a0064	a0001c0001 a0002c0002 a0002c0018 others(27): Show a0001c0001 a0002c0002 a0002c0018 a0002c0022 a0002c0032 a0002c0036 a0002c0047 a0005c0006 a0005c0017 a0005c0027 a0005c0028 a0005c0040 a0007c0005 a0008c0007 a0018c0031 a0018c0050 a0021c0037 a0029c0049 a0035c0046 a0036c0042 a0045c0039 a0049c0077 a0050c0052 a0051c0043 a0056c0051 a0059c0078 a0060c0048 a0062c0044 a0063c0067 a0064c0045	a0001c0001t0001 a0002c0002t0001 a0002c0018t0001 others(27): Show a0001c0001t0001 a0002c0002t0001 a0002c0018t0001 a0002c0022t0001 a0002c0032t0001 a0002c0036t0001 a0002c0047t0001 a0005c0006t0001 a0005c0017t0001 a0005c0027t0001 a0005c0028t0001 a0005c0040t0001 a0007c0005t0001 a0008c0007t0001 a0018c0031t0001 a0018c0050t0001 a0021c0037t0001 a0029c0049t0001 a0035c0046t0001 a0036c0042t0001 a0045c0039t0001 a0049c0077t0001 a0050c0052t0001 a0051c0043t0001 a0056c0051t0001 a0059c0078t0001 a0060c0048t0001 a0062c0044t0001 a0063c0067t0001 a0064c0045t0001	a0001c0001t0001g0295 a0002c0002t0001g0036 a0002c0002t0001g0037 others(100): Show a0001c0001t0001g0295 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0083 a0002c0002t0001g0138 a0002c0002t0001g0146 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0187 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0018t0001g0002 a0002c0018t0001g0003 a0002c0018t0001g0051 a0002c0022t0001g0246 a0002c0022t0001g0258 a0002c0022t0001g0304 a0002c0032t0001g0043 a0002c0032t0001g0047 a0002c0036t0001g0178 a0002c0036t0001g0179 a0002c0047t0001g0140 a0005c0006t0001g0014 a0005c0006t0001g0016 a0005c0006t0001g0017 a0005c0006t0001g0020 a0005c0006t0001g0022 a0005c0006t0001g0034 a0005c0017t0001g0015 a0005c0017t0001g0021 a0005c0017t0001g0023 a0005c0027t0001g0018 a0005c0027t0001g0019 a0005c0028t0001g0326 a0005c0028t0001g0327 a0005c0040t0001g0013 a0007c0005t0001g0024 a0007c0005t0001g0025 a0007c0005t0001g0026 a0007c0005t0001g0027 a0007c0005t0001g0028 a0007c0005t0001g0029 a0007c0005t0001g0030 a0007c0005t0001g0031 a0007c0005t0001g0032 a0007c0005t0001g0033 a0008c0007t0001g0004 a0008c0007t0001g0005 a0008c0007t0001g0006 a0008c0007t0001g0008 a0008c0007t0001g0009 a0008c0007t0001g0010 a0008c0007t0001g0011 a0018c0031t0001g0044 a0018c0031t0001g0065 a0018c0050t0001g0184 a0021c0037t0001g0188 a0021c0037t0001g0189 a0029c0049t0001g0049 a0035c0046t0001g0007 a0036c0042t0001g0186 a0045c0039t0001g0012 a0049c0077t0001g0180 a0050c0052t0001g0035 a0051c0043t0001g0060 a0056c0051t0001g0190 a0059c0078t0001g0167 a0060c0048t0001g0185 a0062c0044t0001g0046 a0063c0067t0001g0314 a0064c0045t0001g0194	103	260	0.3962	-112	c.421 others(19): Show c.4217-1778_4217-1667del	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	21/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDCD6_chr5_266646_319974	302395	CTGTGTGT others(105): Show CTGTGTGTATGCCTCAGGTTCAGGTGCACCTGCCTTTGTGGGGAGAGCAC AGCTTCCCTGCATAACTGCTGGAGGGCGGGTCATGGAGTGCTGCTGCTGT GTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01109.hp1 others(11): Show HG00738.hp2 HG00741.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG02683.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0158 others(9): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0261 a0001c0001t0001g0262	14	358	0.0391	-112	c.164 others(17): Show c.164-1767_164-1656del	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE4DIP_chr1_148839428_149038016	149023667	CACATATA others(105): Show CACATATATATGTACATGTATATGTGTGCACATATATATGTACATGTATA TGTGTGCACATATATATGTACATGTATATGTGTGCACATATATATGTACA TGTATATGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0011 a0003c0015t0001g0011	1	22	0.0455	-112	c.628 others(17): Show c.6284-712_6284-601del	PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDZD2_chr5_31634131_32115932	31849883	TATATACA others(105): Show TATATACACATATATATATATACATATATATATATACATATATATATATA CACATATATATATATACATATATATATATACACATATATATATATACATA TATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02922.hp1 NA18968.hp2 others(1): Show HG00099.hp1 HG02922.hp1 NA18968.hp2 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0035 a0002c0063 others(1): Show a0001c0001 a0001c0035 a0002c0063 a0003c0004	a0001c0001t0001 a0001c0035t0039 a0002c0063t0002 others(1): Show a0001c0001t0001 a0001c0035t0039 a0002c0063t0002 a0003c0004t0026	a0001c0001t0001g0177 a0001c0035t0039g0209 a0002c0063t0002g0129 others(1): Show a0001c0001t0001g0177 a0001c0035t0039g0209 a0002c0063t0002g0129 a0003c0004t0026g0104	4	193	0.0207	-112	c.476 others(19): Show c.476+50165_476+50276del	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PEPD_chr19_33381950_33526791	33505797	CACCCTCA others(105): Show CACCCTCATCACAAACACCCTACACACTACACACACCCACACACAACACA GCATACTCACACCCACCACACCCCATCACAAACACCCTACACACTACTTA CACACCCACACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(15): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00621.hp1 HG01074.hp2 HG02040.hp1 HG02523.hp2 HG02698.hp2 HG02738.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp1 NA18940.hp1 NA18942.hp1 NA18953.hp2 NA18957.hp1 NA19010.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0094 a0001c0001t0001g0099 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0165 a0001c0003t0001g0108 a0001c0003t0001g0113 a0001c0003t0001g0115	18	312	0.0577	-112	c.330 others(17): Show c.330-4908_330-4797del	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	3/14			chr19	TogoVar
PIGG_chr4_494210_545200	519671	CACCTGGT others(105): Show CACCTGGTGCCGGCAGCAGTGGGGTGGGCCTGCAGGCGTGTGGGTTCATG CTTAGGGACTTGGTGCCTGCAGCAGTGGGGTGGGCCTGCAGGCGTGTGGG TTCACGCTCAGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00597.hp1 others(106): Show HG00099.hp2 HG00423.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp2 HG02258.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp2 NA18950.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp2 NA19068.hp1 NA19072.hp2 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0002 a0003 a0005 others(7): Show a0002 a0003 a0005 a0008 a0009 a0010 a0012 a0016 a0017 a0022	a0002c0002 a0002c0007 a0002c0028 others(12): Show a0002c0002 a0002c0007 a0002c0028 a0003c0003 a0005c0008 a0005c0009 a0005c0021 a0008c0012 a0009c0010 a0010c0011 a0012c0016 a0012c0018 a0016c0020 a0017c0017 a0022c0019	a0002c0002t0002 a0002c0007t0002 a0002c0028t0002 others(14): Show a0002c0002t0002 a0002c0007t0002 a0002c0028t0002 a0003c0003t0002 a0003c0003t0008 a0005c0008t0004 a0005c0009t0002 a0005c0009t0007 a0005c0021t0004 a0008c0012t0001 a0009c0010t0002 a0010c0011t0005 a0012c0016t0001 a0012c0018t0001 a0016c0020t0002 a0017c0017t0003 a0022c0019t0001	a0002c0002t0002g0017 a0002c0002t0002g0026 a0002c0002t0002g0029 others(98): Show a0002c0002t0002g0017 a0002c0002t0002g0026 a0002c0002t0002g0029 a0002c0002t0002g0075 a0002c0002t0002g0083 a0002c0002t0002g0102 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0125 a0002c0002t0002g0139 a0002c0002t0002g0155 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0177 a0002c0002t0002g0188 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0204 a0002c0002t0002g0209 a0002c0002t0002g0224 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0237 a0002c0002t0002g0239 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0281 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0322 a0002c0007t0002g0104 a0002c0007t0002g0108 a0002c0007t0002g0109 a0002c0007t0002g0127 a0002c0007t0002g0150 a0002c0028t0002g0270 a0003c0003t0002g0007 a0003c0003t0002g0021 a0003c0003t0002g0028 a0003c0003t0002g0211 a0003c0003t0002g0250 a0003c0003t0002g0264 a0003c0003t0002g0265 a0003c0003t0002g0304 a0003c0003t0008g0124 a0005c0008t0004g0038 a0005c0008t0004g0249 a0005c0008t0004g0275 a0005c0008t0004g0295 a0005c0008t0004g0297 a0005c0009t0002g0010 a0005c0009t0002g0129 a0005c0009t0002g0319 a0005c0009t0007g0280 a0005c0021t0004g0226 a0008c0012t0001g0180 a0008c0012t0001g0199 a0008c0012t0001g0277 a0008c0012t0001g0312 a0009c0010t0002g0284 a0009c0010t0002g0290 a0009c0010t0002g0291 a0009c0010t0002g0294 a0010c0011t0005g0212 a0010c0011t0005g0225 a0010c0011t0005g0234 a0010c0011t0005g0293 a0012c0016t0001g0126 a0012c0016t0001g0302 a0012c0018t0001g0195 a0016c0020t0002g0090 a0017c0017t0003g0292 a0022c0019t0001g0163	109	360	0.3028	-112	c.111 others(19): Show c.1115-1197_1115-1086del	PIGG	ENSG00000174227.16	transcript	ENST00000453061.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PJA2_chr5_109329722_109414974	109354457	TATGATAT others(105): Show TATGATATCTAGAGATATCTATAGATTAGATATCTATAATATCATAGATA TCTATATCGATATTAGATATCTATAATATCTATAGATATCTATATCGATA TTAGATATCTATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	344	0.0029	-112	c.176 others(19): Show c.1764+1346_1764+1457del	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PLD5_chr1_242077986_242529697	242393236	GTGTATAT others(105): Show GTGTATATATATGAGTATATATATGTGTATATATATGAGTATATATATGT GTATATATATGAGTATATATATGTGTATATATATGAGTATATATATGTGT ATATATATGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02965.hp1 HG03195.hp1 HG02895.hp2 HG02965.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0021 a0001c0002t0003 a0001c0001t0005 a0001c0001t0021 a0001c0002t0003	a0001c0001t0005g0038 a0001c0001t0021g0117 a0001c0002t0003g0139 a0001c0001t0005g0038 a0001c0001t0021g0117 a0001c0002t0003g0139	3	148	0.0203	-112	c.190 others(19): Show c.190-45106_190-44995del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242393562	ATATATGT others(105): Show ATATATGTGTATATATATGAGTATACATATGTGTATATATATGAGCATAT ATGTGTATATATATGAGTATATATATGTGTATATATATGAGTATATATGT GTATATATATGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0121 a0001c0001t0054g0121	1	186	0.0054	-112	c.190 others(19): Show c.190-45432_190-45321del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHG4B_chr5_87168_194966	165578	CCTCTGAC others(105): Show CCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGAGCTCAC ACTAATGCTCTGATGTGGCGGAGCTCACACTAATGCTCTGACGGGGCGGG GCTCACACTAATG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0099 a0002c0003t0001g0099	1	152	0.0066	-112	c.347 others(19): Show c.3476+2045_3476+2156del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165701	GCGGAGCT others(105): Show GCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCT GACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAA TGCTCTGATGGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00733.hp1 others(15): Show HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01261.hp1 HG01515.hp2 HG02602.hp2 HG03491.hp1 HG03669.hp1 HG03831.hp1 HG04115.hp2 HG04204.hp2 NA18954.hp1 NA18954.hp2 NA19066.hp1	a0002 a0004 a0024 a0002 a0004 a0024	a0002c0003 a0002c0005 a0004c0006 others(2): Show a0002c0003 a0002c0005 a0004c0006 a0004c0043 a0024c0050	a0002c0003t0033 a0002c0003t0097 a0002c0003t0099 others(11): Show a0002c0003t0033 a0002c0003t0097 a0002c0003t0099 a0002c0003t0100 a0002c0003t0101 a0002c0003t0102 a0002c0005t0001 a0002c0005t0063 a0002c0005t0096 a0004c0006t0001 a0004c0006t0059 a0004c0006t0093 a0004c0043t0094 a0024c0050t0001	a0002c0003t0033g0018 a0002c0003t0097g0030 a0002c0003t0099g0129 others(15): Show a0002c0003t0033g0018 a0002c0003t0097g0030 a0002c0003t0099g0129 a0002c0003t0100g0029 a0002c0003t0101g0127 a0002c0003t0102g0072 a0002c0005t0001g0066 a0002c0005t0001g0095 a0002c0005t0001g0166 a0002c0005t0063g0081 a0002c0005t0096g0123 a0004c0006t0001g0048 a0004c0006t0001g0052 a0004c0006t0001g0065 a0004c0006t0059g0192 a0004c0006t0093g0049 a0004c0043t0094g0100 a0024c0050t0001g0140	18	208	0.0865	-112	c.347 others(19): Show c.3476+2157_3476+2268del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165761	GGCTCACA others(105): Show GGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATG GGACGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCT CTGACGGGGCGGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp1 HG01069.hp1 HG01074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0008 a0002c0003t0001 a0002c0003t0008	a0002c0003t0001g0097 a0002c0003t0008g0209 a0002c0003t0001g0097 a0002c0003t0008g0209	2	196	0.0102	-112	c.347 others(19): Show c.3476+2221_3476+2332del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165970	GCTCTGAC others(105): Show GCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCAC ACTAATGCTCTGACGGGGCAGGGCTCACACTAATGCTCTGACGGGGCGGG GCTCACAGTAATC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03225.hp1 HG02683.hp1 HG03225.hp1	a0003 a0032 a0003 a0032	a0003c0056 a0032c0075 a0003c0056 a0032c0075	a0003c0056t0007 a0032c0075t0057 a0003c0056t0007 a0032c0075t0057	a0003c0056t0007g0080 a0032c0075t0057g0177 a0003c0056t0007g0080 a0032c0075t0057g0177	2	203	0.0099	-112	c.347 others(19): Show c.3476+2437_3476+2548del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	166209	GGCTCACA others(105): Show GGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACG GGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCT CTGACGGGGCGGA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0039 a0039	a0039c0047 a0039c0047	a0039c0047t0033 a0039c0047t0033	a0039c0047t0033g0068 a0039c0047t0033g0068	1	184	0.0054	-112	c.347 others(19): Show c.3476+2669_3476+2780del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	964622	AGGGGGGC others(105): Show AGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGG GTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGG GATGTGCTGCCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp1 others(56): Show HG00140.hp1 HG00323.hp2 HG00438.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02148.hp1 HG02293.hp2 HG02602.hp1 HG02698.hp2 HG02818.hp1 HG03017.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04228.hp2 HG06807.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18957.hp2 NA18966.hp2 NA18987.hp1 NA18990.hp1 NA18999.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp2 NA19075.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0013 a0014 a0019	a0001c0001 a0001c0010 a0001c0012 others(10): Show a0001c0001 a0001c0010 a0001c0012 a0002c0002 a0002c0006 a0002c0017 a0002c0041 a0003c0003 a0003c0005 a0005c0045 a0013c0039 a0014c0033 a0019c0035	a0001c0001t0001 a0001c0010t0003 a0001c0012t0003 others(15): Show a0001c0001t0001 a0001c0010t0003 a0001c0012t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0019 a0002c0002t0024 a0002c0006t0002 a0002c0017t0039 a0002c0041t0004 a0003c0003t0001 a0003c0005t0001 a0005c0045t0004 a0013c0039t0001 a0014c0033t0004 a0019c0035t0002	a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0010t0003g0082 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0010t0003g0082 a0001c0010t0003g0083 a0001c0012t0003g0032 a0002c0002t0001g0003 a0002c0002t0002g0003 a0002c0002t0002g0031 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0103 a0002c0002t0002g0119 a0002c0002t0002g0166 a0002c0002t0003g0003 a0002c0002t0004g0134 a0002c0002t0019g0116 a0002c0002t0019g0129 a0002c0002t0024g0148 a0002c0006t0002g0086 a0002c0017t0039g0084 a0002c0041t0004g0003 a0003c0003t0001g0008 a0003c0003t0001g0033 a0003c0005t0001g0008 a0003c0005t0001g0089 a0005c0045t0004g0117 a0013c0039t0001g0033 a0014c0033t0004g0003 a0019c0035t0002g0003	59	416	0.1418	-112	c.-19 others(11): Show c.-1909_-1798del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1859		chr1	TogoVar
PPP1R7_chr2_241145467_241188652	241161179	ACTTCTTC others(105): Show ACTTCTTCGAGATGAAAGTTTCCCAAGCCCAGCAAAGTGGTCACTTGGAG TGAACTGATGTACATACCGGGGCTTTAGAAAGCCTCTTGATCATGGTCAT CTTCTCTGGCATG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03942.hp2 HG03491.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0069 a0001c0001t0004g0043 a0001c0001t0004g0069	2	394	0.0051	-112	c.597 others(15): Show c.597+869_597+980del	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP6R2_chr22_50338327_50450090	50434594	GGCATGGA others(105): Show GGCATGGATGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGAGGGCCGGG GGCATGGATGCTGGGCAGGGGCCGGGCACTTGCCCTGGAGGTGAACCTGG AGGAGGGCCGGGT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG02083.hp2 others(1): Show HG00558.hp1 HG00558.hp2 HG02083.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0261 a0001c0001t0001g0290 a0001c0001t0007g0105 others(1): Show a0001c0001t0001g0261 a0001c0001t0001g0290 a0001c0001t0007g0105 a0001c0001t0007g0108	4	338	0.0118	-112	c.140 others(17): Show c.1401-369_1401-258del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50434627	TCTGGAGG others(105): Show TCTGGAGGAGGGCCGGGGGCATGGATGCTGGGCAGGGGCCGGGCACTTGC CCTGGAGGTGAACCTGGAGGAGGGCCGGGTGCGCGGACACTGGGCAGGGG CCGGGCACTTGCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG03041.hp2 HG01884.hp1 HG02572.hp2 HG03041.hp2	a0009 a0009	a0009c0016 a0009c0030 a0009c0016 a0009c0030	a0009c0016t0008 a0009c0030t0022 a0009c0016t0008 a0009c0030t0022	a0009c0016t0008g0223 a0009c0016t0008g0224 a0009c0030t0022g0038 a0009c0016t0008g0223 a0009c0016t0008g0224 a0009c0030t0022g0038	3	338	0.0089	-112	c.140 others(17): Show c.1401-331_1401-220del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM16_chr1_3064203_3443621	3181552	GCAGTCTT others(105): Show GCAGTCTTACACACGCAGTCTTACACACGGTCTTACATATGGTCTTACAC ATGCAGTCTTACACACGGTCTTACACATGCAGTCTTACACACGGTCTTAC ACACGGTCTTACA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18983.hp2 NA19067.hp1 others(2): Show HG01346.hp1 NA18983.hp2 NA19067.hp1 NA19067.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0001 a0001c0002t0018 a0001c0001t0033 a0001c0002t0001 a0001c0002t0018	a0001c0001t0033g0198 a0001c0002t0001g0114 a0001c0002t0001g0208 others(2): Show a0001c0001t0033g0198 a0001c0002t0001g0114 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0018g0197	5	55	0.0909	-112	c.38- others(15): Show c.38-4561_38-4450del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PREX2_chr8_67947046_68242032	67976596	AGACAGAG others(105): Show AGACAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGACGGGAGAGAGACA GAGAGAGAGAGACGGGAGAGAGACAGAGAGAGAGACAGGAGAGAGACAGA GAGAGAGAGACGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp2 HG02559.hp2 HG02970.hp2	a0001 a0004 a0001 a0004	a0001c0013 a0004c0069 a0001c0013 a0004c0069	a0001c0013t0003 a0004c0069t0045 a0001c0013t0003 a0004c0069t0045	a0001c0013t0003g0073 a0004c0069t0045g0187 a0001c0013t0003g0073 a0004c0069t0045g0187	2	188	0.0106	-112	c.141 others(19): Show c.141+24064_141+24175del	PREX2	ENSG00000046889.19	transcript	ENST00000288368.5	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr8	TogoVar
PRKCG_chr19_53877197_53912652	53880312	GTCAGAGA others(105): Show GTCAGAGAGACATAGAGAGACATTCATAGAGCCAGAGACACAGAGAGATT CATAGACATATAGAGAGATTCAGAGAGCCTGAATCACAGAGATTCACAGA GCCAAAGAGACAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(296): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0014 a0001c0017 a0001c0018 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0002c0013 a0003c0022 a0004c0019 a0005c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0008t0001 a0001c0009t0001 a0001c0014t0001 a0001c0017t0001 a0001c0018t0001 a0001c0020t0001 a0001c0021t0001 a0001c0023t0001 a0001c0024t0001 a0002c0013t0002 a0003c0022t0001 a0004c0019t0001 a0005c0015t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(285): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0003g0021 a0001c0001t0003g0316 a0001c0001t0004g0008 a0001c0001t0004g0212 a0001c0001t0004g0233 a0001c0001t0005g0270 a0001c0001t0007g0127 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0052 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0165 a0001c0002t0001g0176 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0002g0349 a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0010 a0001c0003t0001g0059 a0001c0003t0001g0161 a0001c0003t0001g0174 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0202 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0237 a0001c0003t0001g0242 a0001c0003t0001g0269 a0001c0003t0001g0272 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0307 a0001c0003t0001g0314 a0001c0003t0001g0317 a0001c0003t0001g0329 a0001c0003t0001g0330 a0001c0003t0001g0334 a0001c0003t0005g0205 a0001c0004t0001g0155 a0001c0004t0002g0335 a0001c0004t0002g0339 a0001c0005t0001g0325 a0001c0008t0001g0004 a0001c0008t0001g0068 a0001c0008t0001g0109 a0001c0008t0001g0120 a0001c0009t0001g0007 a0001c0009t0001g0167 a0001c0009t0001g0170 a0001c0014t0001g0025 a0001c0014t0001g0026 a0001c0017t0001g0019 a0001c0018t0001g0103 a0001c0020t0001g0102 a0001c0021t0001g0252 a0001c0023t0001g0288 a0001c0024t0001g0094 a0002c0013t0002g0017 a0002c0013t0002g0018 a0003c0022t0001g0181 a0004c0019t0001g0203 a0005c0015t0001g0081	299	360	0.8306	-112	c.-21 others(11): Show c.-2182_-2071del	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding		1884		chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2122226	AGGGTCGT others(105): Show AGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGT TAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAG GGTCGTGGCGGTG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0265 a0001c0003t0018g0265	1	282	0.0035	-112	c.335 others(19): Show c.335-13034_335-12923del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122991	AGGGTCGT others(105): Show AGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGT TAGGGTCGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGG TTAGGGTCACGGT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02970.hp2 HG01934.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0256 a0001c0002t0001g0158 a0001c0001t0001g0256 a0001c0002t0001g0158	2	236	0.0085	-112	c.335 others(19): Show c.335-12268_335-12157del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PSD3_chr8_18522303_19018703	18752505	TATATAAT others(105): Show TATATAATATATGTAATATATATAATTATATATTATATATATTATATATA ATTATATATATTATATATATAATTATATATATTATATATTATATATTATA TATAATACATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0146 a0001c0001t0025g0146	1	226	0.0044	-112	c.217 others(21): Show c.2172+12832_2172+12943del	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PTDSS2_chr11_445279_496399	491674	ACTGTGTT others(105): Show ACTGTGTTTGTCCCAGGCTGGCAGACACTGGGCAGTGGACACAGGATTCC TGGGGTGCTGTGTTTGTCCCAGGCTGGCAGACACTGGGCAGTGGACACAG GATTCCTGGGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00733.hp1 others(20): Show HG00099.hp1 HG00639.hp1 HG00733.hp1 HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp1 NA18948.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0002c0003t0005 others(2): Show a0001c0001t0001 a0001c0001t0006 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008	a0001c0001t0001g0025 a0001c0001t0001g0143 a0001c0001t0001g0215 others(17): Show a0001c0001t0001g0025 a0001c0001t0001g0143 a0001c0001t0001g0215 a0001c0001t0006g0027 a0001c0001t0006g0185 a0002c0003t0005g0020 a0002c0003t0005g0021 a0002c0003t0005g0184 a0002c0003t0005g0187 a0002c0003t0005g0188 a0002c0003t0005g0189 a0002c0003t0005g0190 a0002c0003t0005g0191 a0002c0003t0005g0193 a0002c0003t0006g0192 a0002c0003t0006g0194 a0002c0003t0008g0169 a0002c0003t0008g0170 a0002c0003t0008g0171 a0002c0003t0008g0172	23	227	0.1013	-112	c.10 others(11): Show c.1093_*1204del	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding		276		chr11	TogoVar
PXDNL_chr8_51314577_51814445	51378682	ACTTCACT others(105): Show ACTTCACTGCTGAGGCCAGCAAGACCAGGATCCCACTGGGACAGGACGGG AGGAACGAACAACTCCACACGTGCGGCCTTAAGAGCTGTAACACTCACTG CGAAGGTCTGCAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02896.hp1 others(2): Show HG02559.hp2 HG02615.hp2 HG02896.hp1 HG02897.hp2 HG03209.hp2	a0007 a0030 a0007 a0030	a0007c0006 a0030c0042 a0007c0006 a0030c0042	a0007c0006t0001 a0030c0042t0001 a0007c0006t0001 a0030c0042t0001	a0007c0006t0001g0042 a0007c0006t0001g0043 a0007c0006t0001g0045 others(2): Show a0007c0006t0001g0042 a0007c0006t0001g0043 a0007c0006t0001g0045 a0007c0006t0001g0046 a0030c0042t0001g0044	5	120	0.0417	-112	c.355 others(19): Show c.3558-4063_3558-3952del	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	17/22			chr8	TogoVar
PXYLP1_chr3_141226825_141299924	141248538	CACACACG others(105): Show CACACACGTATATATACACACGTGTATATATATACACACATGTATATATA CACACACGTGTATATATACACACGTATATATACACACACGTATATATACA CACGTGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp2 HG02976.hp1 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0003 a0004c0012t0003 a0001c0001t0003 a0004c0012t0003	a0001c0001t0003g0303 a0004c0012t0003g0304 a0001c0001t0003g0303 a0004c0012t0003g0304	2	382	0.0052	-112	c.-53 others(19): Show c.-53-11564_-53-11453del	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB40B_chr17_82649973_82703698	82696554	AAGCCCTG others(105): Show AAGCCCTGTCCTCCAGGCGCTCAATCTCCAGCCCTGTCCTCCAGGCGCTC AATCTCCAGCCCTGTCCTCCAGGCGCTCAATCTCCAGCCCTGTCCTCCAG GCGCTCAATCTCC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG02647.hp2 others(2): Show HG01255.hp1 HG01884.hp2 HG02647.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0042 a0001c0001t0001 a0001c0001t0007 a0001c0001t0042	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0007g0014 a0001c0001t0042g0016	5	53	0.0943	-112	c.142 others(17): Show c.142+1789_142+1900del	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RALGDS_chr9_133092722_133126240	133124028	GCACACAC others(105): Show GCACACACAGAGACACACAGAGAGACAGAGACACAGACACACACACACAC AGACACAAAGATACACAGAGATGCACACACAGACACACACATAGAGACAG AGACACAGACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02145.hp1 others(12): Show HG01109.hp2 HG01884.hp1 HG02145.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03471.hp2 HG03540.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0016 a0001c0005 a0002c0016	a0001c0005t0001 a0002c0016t0001 a0001c0005t0001 a0002c0016t0001	a0001c0005t0001g0008 a0001c0005t0001g0056 a0001c0005t0001g0154 others(5): Show a0001c0005t0001g0008 a0001c0005t0001g0056 a0001c0005t0001g0154 a0001c0005t0001g0239 a0001c0005t0001g0240 a0001c0005t0001g0241 a0001c0005t0001g0242 a0002c0016t0001g0243	15	422	0.0355	-112	c.-29 others(11): Show c.-2986_-2875del	RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding		2789		chr9	TogoVar
RBFOX1_chr16_6014024_7718340	7008909	ACTTCCTC others(105): Show ACTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTT CCTCCCTCCCTCC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0054 a0001c0001t0012g0054	1	58	0.0172	-112	c.-15 others(19): Show c.-15-43121_-15-43010del	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RERE_chr1_8347404_8822640	8668924	CTGTGTGT others(105): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTTTTTA AGACAGGGTCTCACTCTGTCTTCTGTGAATATTCTAAAATGCACTCAACT CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG06807.hp1 HG02145.hp1 HG02970.hp2 HG06807.hp1	a0001 a0008 a0001 a0008	a0001c0004 a0001c0009 a0008c0020 a0001c0004 a0001c0009 a0008c0020	a0001c0004t0040 a0001c0009t0041 a0008c0020t0039 a0001c0004t0040 a0001c0009t0041 a0008c0020t0039	a0001c0004t0040g0199 a0001c0009t0041g0198 a0008c0020t0039g0197 a0001c0004t0040g0199 a0001c0009t0041g0198 a0008c0020t0039g0197	3	114	0.0263	-112	c.-14 others(21): Show c.-144-12595_-144-12484del	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RGS17_chr6_152999459_153136282	153053922	TATGTATA others(105): Show TATGTATATATATGTATATATAATATATATACATATATATTATATACATA TATATGTATATATGTATATAATATATATACATATATACGTATATATGTAT ATAATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01943.hp1 others(22): Show HG01109.hp1 HG01167.hp2 HG01943.hp1 HG01952.hp1 HG01993.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02647.hp2 HG02886.hp1 HG03195.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp1 NA18747.hp1 NA18952.hp1 NA18955.hp2 NA18983.hp2 NA19003.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0027 a0001c0001t0035 a0001c0001t0045	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0088 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0088 a0001c0001t0001g0153 a0001c0001t0001g0305 a0001c0001t0003g0302 a0001c0001t0003g0313 a0001c0001t0004g0310 a0001c0001t0005g0094 a0001c0001t0005g0304 a0001c0001t0005g0306 a0001c0001t0005g0307 a0001c0001t0005g0309 a0001c0001t0006g0126 a0001c0001t0006g0301 a0001c0001t0017g0162 a0001c0001t0017g0221 a0001c0001t0018g0165 a0001c0001t0023g0161 a0001c0001t0023g0166 a0001c0001t0027g0275 a0001c0001t0035g0273 a0001c0001t0045g0163	25	331	0.0755	-112	c.-25 others(17): Show c.-25-9991_-25-9880del	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar

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