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
PRKAG2_chr7_151551127_151882115	151874156	GATGTATA others(119): Show GATGTATATGTATATGATGTATATGTATATGTATATGTATATGATGTATA TGTATATGTATATGATGTATATGTATATGATGTATATGTATATGTATATG ATGTATATGTATATGTATATGATATAT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0250 a0001c0001t0016g0250	1	252	0.0040	-126	c.114 others(17): Show c.114+2225_114+2350del	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2123427	GGTGGTTA others(119): Show GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGG TGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCG GTGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02109.hp1 HG02300.hp2 others(2): Show HG01975.hp2 HG02109.hp1 HG02300.hp2 HG02615.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0003t0001g0137 others(2): Show a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0003t0001g0137 a0001c0003t0003g0190 a0001c0003t0003g0200	5	286	0.0175	-126	c.335 others(19): Show c.335-11829_335-11704del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124069	GGTTAGGG others(119): Show GGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGACGGTTAGGGTCACGG CGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTC ACGGCGGTGGTTAGGGTCACGGCTGTA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	286	0.0035	-126	c.335 others(19): Show c.335-11178_335-11053del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124191	CTGTAGTT others(119): Show CTGTAGTTAGGGTCACGGCTGTAGTTAGCGTCACGGTGGTGGTTAGGGTC ACGGTGGTGGTTAGGGTCATGGCGGTAGTTAGGGTCACGGCTGTAGTTAG CGTCACGGTGGTAGTTAGGGTCACGGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18964.hp1 HG00408.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0225 a0001c0002t0001g0097 a0001c0002t0001g0225	2	286	0.0070	-126	c.335 others(19): Show c.335-11070_335-10945del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PROZ_chr13_113153648_113177386	113161840	GTCCCCCC others(119): Show GTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0269 a0001c0002t0004g0269	1	378	0.0027	-126	c.259 others(15): Show c.259+874_259+999del	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162218	GTCCCCCC others(119): Show GTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	378	0.0027	-126	c.260 others(15): Show c.260-785_260-660del	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162602	TCATCCTC others(119): Show TCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACCTCCCCA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG03471.hp1 others(3): Show HG00280.hp2 HG00408.hp2 HG03471.hp1 HG03831.hp1 NA19002.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0093 others(3): Show a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0121 a0003c0005t0001g0091	6	378	0.0159	-126	c.260 others(15): Show c.260-371_260-246del	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PRPSAP2_chr17_18853131_18936287	18934837	CACTGCAT others(119): Show CACTGCATCCAGCCAAGAATGGTGTTTTTAACAAATGGTACTAGGACAAC TAAAAATCCATACACAAAGAATGAAGGGCTAAAACTATAAAACTTTTAGA ATAAAACACAGGGATAAATCTTCATGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	392	0.0026	-126	c.41 others(11): Show c.4140_*4265del	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding		3551		chr17	TogoVar
PSEN1_chr14_73131507_73228691	73184375	CTGGCCGG others(119): Show CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCTCCGACGGGGCGGC TGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGG	C C	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	378	0.0027	-126	c.481 others(17): Show c.481-2477_481-2352del	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11			chr14	TogoVar
PSEN1_chr14_73131507_73228691	73184385	GGGGGGCT others(119): Show GGGGGGCTGACCCCCCCACCTCCCTCTCCGACGGGGCGGCTGGCCTGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	378	0.0027	-126	c.481 others(17): Show c.481-2462_481-2337del	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73184395	CCCCCCCA others(119): Show CCCCCCCACCTCCCTCTCCGACGGGGCGGCTGGCCTGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	378	0.0027	-126	c.481 others(17): Show c.481-2451_481-2326del	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGR1_chr9_111557567_111604647	111560958	TATATATA others(119): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGGTGGCAGTGAGTGGAGATCGCACCACTGCACTCCAGCCT GGGCAACAGAGTGAGACTCCATCTAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0230	1	408	0.0025	-126	c.20 others(11): Show c.2037_*2162del	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1608		chr9	TogoVar
PTGR1_chr9_111557567_111604647	111560984	GAGAGAGA others(119): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGTGGCAGTGAGTGGA GATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTAA AATATATATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	408	0.0025	-126	c.20 others(11): Show c.2011_*2136del	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1582		chr9	TogoVar
RAD54L2_chr3_51533719_51673660	51560041	CAGTTGTA others(119): Show CAGTTGTACAGATGAGAAACTAAGTGATTTGCTCCAGTTAAGTGGTGCTG TTAAACCAGGTATCTGACACCAAAGAGCTCCCACCCCATGATATACCTAT GGCCTCTTCAGCAGTGTTGATAGTAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0040 a0001c0010t0040	a0001c0010t0040g0009 a0001c0010t0040g0009	1	276	0.0036	-126	c.-55 others(19): Show c.-55+18394_-55+18519del	RAD54L2	ENSG00000164080.14	transcript	ENST00000684192.1	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
RASA3_chr13_113972783_114137623	114004866	TCCACGTG others(119): Show TCCACGTGTCCACCAACGGACGACTGGATAAAGAAAACGTGGCATAAATA CACCACGACATGCTACTCCACCATCAAGAGGAAGGAAATCTTATGTTTTC CAGCAACGTGAACGGAACTAGAGGTTG	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0063 a0001c0007t0002g0063	1	67	0.0149	-126	c.174 others(19): Show c.1742+2541_1742+2666del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RBFOX1_chr16_6014024_7718340	7229816	AAGGAAGG others(119): Show AAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGA GAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGA GAGAGAGGGAGGAAGGGAGAGAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0029 a0001c0001t0037g0029	1	68	0.0147	-126	c.27+ others(19): Show c.27+177772_27+177897del	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM20_chr10_110639336_110844468	110766861	GTGGCCGG others(119): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGTGACCC CCCCACCTCCCTCCCGGACGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02004.hp2 HG02015.hp2 others(10): Show HG01361.hp1 HG02004.hp2 HG02015.hp2 HG02257.hp1 HG02809.hp2 HG03130.hp1 HG03209.hp1 HG03471.hp1 HG03471.hp2 NA18906.hp2 NA19001.hp1 NA19084.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0003c0005 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0005 a0002c0004t0001 a0003c0005t0005 a0006c0013t0018	a0001c0001t0001g0063 a0001c0001t0001g0118 a0001c0001t0001g0161 others(10): Show a0001c0001t0001g0063 a0001c0001t0001g0118 a0001c0001t0001g0161 a0001c0001t0001g0211 a0001c0001t0001g0231 a0001c0001t0001g0247 a0001c0001t0002g0078 a0001c0001t0002g0183 a0002c0002t0001g0200 a0002c0002t0005g0093 a0002c0004t0001g0050 a0003c0005t0005g0202 a0006c0013t0018g0006	13	268	0.0485	-126	c.192 others(19): Show c.192-13811_192-13686del	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RNF135_chr17_30966039_31004911	30980133	CTCCTCAC others(119): Show CTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	266	0.0038	-126	c.373 others(17): Show c.373-4459_373-4334del	RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80260571	CCGGCGGC others(119): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01257.hp2 HG01517.hp1 others(9): Show HG00423.hp1 HG01257.hp2 HG01517.hp1 HG02074.hp1 HG02630.hp2 HG02970.hp2 HG03225.hp2 HG03688.hp2 NA18946.hp2 NA18963.hp2 NA18970.hp1 NA19070.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0013 a0023 a0044 a0080 a0098	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0060 a0003c0005 a0013c0118 a0023c0112 a0044c0051 a0080c0066 a0098c0070	a0001c0001t0002 a0001c0003t0034 a0001c0004t0071 others(9): Show a0001c0001t0002 a0001c0003t0034 a0001c0004t0071 a0002c0002t0009 a0002c0002t0010 a0002c0060t0005 a0003c0005t0011 a0013c0118t0057 a0023c0112t0079 a0044c0051t0013 a0080c0066t0040 a0098c0070t0009	a0001c0001t0002g0139 a0001c0003t0034g0004 a0001c0004t0071g0066 others(9): Show a0001c0001t0002g0139 a0001c0003t0034g0004 a0001c0004t0071g0066 a0002c0002t0009g0105 a0002c0002t0010g0154 a0002c0060t0005g0065 a0003c0005t0011g0135 a0013c0118t0057g0167 a0023c0112t0079g0276 a0044c0051t0013g0110 a0080c0066t0040g0030 a0098c0070t0009g0123	12	292	0.0411	-126	c.-43 others(9): Show c.-439_-314del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		280		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260601	CCGGCGGC others(119): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0036 a0036	a0036c0143 a0036c0143	a0036c0143t0013 a0036c0143t0013	a0036c0143t0013g0177 a0036c0143t0013g0177	1	292	0.0034	-126	c.-40 others(9): Show c.-409_-284del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		250		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260631	CCGGCGGC others(119): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01243.hp1 HG02015.hp1 others(10): Show HG00280.hp1 HG01243.hp1 HG02015.hp1 HG02056.hp2 HG02083.hp1 HG02258.hp1 HG03130.hp2 HG03516.hp1 NA18944.hp2 NA19062.hp1 NA19070.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0008 others(5): Show a0001 a0002 a0008 a0026 a0033 a0050 a0099 a0102	a0001c0003 a0001c0006 a0001c0125 others(9): Show a0001c0003 a0001c0006 a0001c0125 a0002c0002 a0002c0039 a0008c0013 a0008c0028 a0026c0034 a0033c0054 a0050c0059 a0099c0079 a0102c0127	a0001c0003t0001 a0001c0006t0005 a0001c0125t0011 others(10): Show a0001c0003t0001 a0001c0006t0005 a0001c0125t0011 a0002c0002t0003 a0002c0039t0014 a0008c0013t0044 a0008c0028t0018 a0026c0034t0006 a0026c0034t0012 a0033c0054t0008 a0050c0059t0060 a0099c0079t0001 a0102c0127t0016	a0001c0003t0001g0108 a0001c0006t0005g0161 a0001c0125t0011g0071 others(10): Show a0001c0003t0001g0108 a0001c0006t0005g0161 a0001c0125t0011g0071 a0002c0002t0003g0087 a0002c0039t0014g0240 a0008c0013t0044g0236 a0008c0028t0018g0028 a0026c0034t0006g0239 a0026c0034t0012g0237 a0033c0054t0008g0121 a0050c0059t0060g0137 a0099c0079t0001g0122 a0102c0127t0016g0062	13	292	0.0445	-126	c.-37 others(9): Show c.-379_-254del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		220		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260661	CCGGCGGC others(119): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG02055.hp2 others(2): Show HG01106.hp2 HG01109.hp1 HG02055.hp2 HG03540.hp2 NA18960.hp2	a0002 a0004 a0051 a0002 a0004 a0051	a0002c0002 a0004c0011 a0004c0044 others(2): Show a0002c0002 a0004c0011 a0004c0044 a0004c0045 a0051c0046	a0002c0002t0003 a0004c0011t0005 a0004c0044t0020 others(2): Show a0002c0002t0003 a0004c0011t0005 a0004c0044t0020 a0004c0045t0011 a0051c0046t0013	a0002c0002t0003g0230 a0004c0011t0005g0224 a0004c0044t0020g0197 others(2): Show a0002c0002t0003g0230 a0004c0011t0005g0224 a0004c0044t0020g0197 a0004c0045t0011g0202 a0051c0046t0013g0198	5	292	0.0171	-126	c.-34 others(9): Show c.-349_-224del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		190		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260691	CCGGCGGC others(119): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0074 a0074	a0074c0128 a0074c0128	a0074c0128t0008 a0074c0128t0008	a0074c0128t0008g0168 a0074c0128t0008g0168	1	292	0.0034	-126	c.-31 others(9): Show c.-319_-194del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		160		chr17	TogoVar
RNF213_chr17_80255852_80403794	80314427	CTGGAGGT others(119): Show CTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGT GGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGG TGGTGGTGAAGGTGATGGTGGAGGTAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG02145.hp2 others(4): Show HG00639.hp2 HG01243.hp1 HG02145.hp2 HG02622.hp2 HG02965.hp2 HG03130.hp2 HG03579.hp1	a0002 a0008 a0038 others(3): Show a0002 a0008 a0038 a0056 a0065 a0085	a0002c0039 a0008c0013 a0038c0137 others(3): Show a0002c0039 a0008c0013 a0038c0137 a0056c0134 a0065c0065 a0085c0135	a0002c0039t0014 a0008c0013t0028 a0008c0013t0044 others(4): Show a0002c0039t0014 a0008c0013t0028 a0008c0013t0044 a0038c0137t0016 a0056c0134t0008 a0065c0065t0025 a0085c0135t0078	a0002c0039t0014g0240 a0008c0013t0028g0241 a0008c0013t0044g0236 others(4): Show a0002c0039t0014g0240 a0008c0013t0028g0241 a0008c0013t0044g0236 a0038c0137t0016g0015 a0056c0134t0008g0014 a0065c0065t0025g0029 a0085c0135t0078g0016	7	292	0.0240	-126	c.281 others(19): Show c.2811+1276_2811+1401del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314884	TGGTGGAG others(119): Show TGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTG TTGGTGGAGGTACTGGAGGTGATGGTGGTCGTGTAGGTGATGGTGGAGGT GATGGTGGTGGTGAAGGTGATGGTGGA	T T	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0073 a0002c0002t0005g0073	1	292	0.0034	-126	c.281 others(19): Show c.2811+1721_2811+1846del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314902	AGGTACTG others(119): Show AGGTACTGGAGGTGATGGTGGTGGTGAAGGTGTTGGTGGAGGTACTGGAG GTGATGGTGGTCGTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGAAGGT GATGGTGGAGGTACTGGAGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03225.hp1 HG03579.hp2 others(1): Show HG01243.hp2 HG03225.hp1 HG03579.hp2 NA19030.hp1	a0016 a0096 a0016 a0096	a0016c0018 a0096c0097 a0016c0018 a0096c0097	a0016c0018t0022 a0016c0018t0062 a0096c0097t0022 a0016c0018t0022 a0016c0018t0062 a0096c0097t0022	a0016c0018t0022g0025 a0016c0018t0022g0085 a0016c0018t0062g0024 others(1): Show a0016c0018t0022g0025 a0016c0018t0022g0085 a0016c0018t0062g0024 a0096c0097t0022g0027	4	292	0.0137	-126	c.281 others(19): Show c.2811+1739_2811+1864del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315054	ATGGAGGT others(119): Show ATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGAT GGTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGTGA TGGTGGAGGTAATGGAGGTGATGGTGG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18990.hp2 HG04228.hp1 NA18990.hp2	a0003 a0088 a0003 a0088	a0003c0005 a0088c0042 a0003c0005 a0088c0042	a0003c0005t0007 a0088c0042t0008 a0003c0005t0007 a0088c0042t0008	a0003c0005t0007g0274 a0088c0042t0008g0208 a0003c0005t0007g0274 a0088c0042t0008g0208	2	292	0.0069	-126	c.281 others(19): Show c.2811+1892_2812-2004del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	264304	CGCAGCAC others(119): Show CGCAGCACGTTGACAGCAGGATTACCCTTCGGAGCCGTGCGCGCTGGATG GGGACTCAGAATCCGCAGCACGTTGACAGCAGGATTACCCTTCGGAGCCG TGCGCGCTGGATGGGGACTCAGAATCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(68): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG01070.hp2 HG01167.hp1 HG01167.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01943.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02976.hp1 HG03017.hp1 HG03453.hp2 HG03516.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18951.hp1 NA18951.hp2 NA18959.hp1 NA18963.hp2 NA18983.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19056.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0015 a0003c0005 a0004c0013 a0006c0007 a0007c0014 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0027 a0001c0001t0031 a0001c0001t0033 a0001c0001t0037 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0009 a0001c0003t0002 a0001c0003t0018 a0001c0003t0030 a0001c0004t0001 a0001c0004t0004 a0001c0004t0026 a0001c0008t0001 a0001c0015t0007 a0003c0005t0023 a0004c0013t0003 a0006c0007t0007 a0007c0014t0018 a0008c0010t0003	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 others(68): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0002g0010 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0079 a0001c0001t0002g0109 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0004g0096 a0001c0001t0005g0017 a0001c0001t0005g0100 a0001c0001t0006g0095 a0001c0001t0006g0105 a0001c0001t0006g0120 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0010g0015 a0001c0001t0010g0129 a0001c0001t0011g0003 a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0001t0013g0055 a0001c0001t0013g0108 a0001c0001t0014g0023 a0001c0001t0014g0106 a0001c0001t0015g0036 a0001c0001t0016g0082 a0001c0001t0016g0093 a0001c0001t0017g0099 a0001c0001t0021g0077 a0001c0001t0027g0118 a0001c0001t0031g0067 a0001c0001t0033g0063 a0001c0001t0037g0058 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0057 a0001c0002t0003g0090 a0001c0002t0006g0060 a0001c0002t0009g0126 a0001c0003t0002g0059 a0001c0003t0018g0019 a0001c0003t0030g0122 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0062 a0001c0004t0004g0014 a0001c0004t0026g0013 a0001c0008t0001g0044 a0001c0015t0007g0026 a0003c0005t0023g0125 a0004c0013t0003g0037 a0006c0007t0007g0117 a0007c0014t0018g0102 a0008c0010t0003g0085	71	133	0.5338	-126	c.439 others(19): Show c.439-17145_439-17020del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	264311	CGTTGACA others(119): Show CGTTGACAGCAGGATTACCCTTCGGAGCCGTGCGCGCTGGATGGGGACTC AGAATCCGCAGCACGTTGACAGCAGGATTACCCTTCGGAGCCGTGCGCGC TGGATGGGGACTCAGAATCTGCAGCAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp2 NA18947.hp2 others(1): Show HG00544.hp2 HG02027.hp2 NA18947.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0034	a0001c0001t0007g0032 a0001c0001t0008g0042 a0001c0001t0011g0056 others(1): Show a0001c0001t0007g0032 a0001c0001t0008g0042 a0001c0001t0011g0056 a0001c0001t0034g0018	4	133	0.0301	-126	c.439 others(19): Show c.439-17152_439-17027del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPS3_chr11_75394518_75411907	75409804	TGGGCGGG others(119): Show TGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCCGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19091.hp1 NA19086.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	412	0.0049	-126	c.41 others(11): Show c.4195_*4320del	RPS3	ENSG00000149273.15	transcript	ENST00000531188.6	protein_coding		2898		chr11	TogoVar
RPTOR_chr17_80539838_80971368	80743947	CCCTGGCT others(119): Show CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0077 a0001c0077	a0001c0077t0086 a0001c0077t0086	a0001c0077t0086g0195 a0001c0077t0086g0195	1	196	0.0051	-126	c.655 others(18): Show c.655-10057_655-9932del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744091	CCCTGGTT others(119): Show CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0186 a0001c0003t0001g0186	1	196	0.0051	-126	c.655 others(17): Show c.655-9913_655-9788del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744361	TCCTGGTT others(119): Show TCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0080 a0001c0059t0080	a0001c0059t0080g0006 a0001c0059t0080g0006	1	196	0.0051	-126	c.655 others(17): Show c.655-9643_655-9518del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744367	TTACGAGC others(119): Show TTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGC	T T	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0030 a0001c0001t0009g0030	1	196	0.0051	-126	c.655 others(17): Show c.655-9639_655-9514del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744379	CCCTGGTT others(119): Show CCCTGGTTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0079 a0001c0079	a0001c0079t0050 a0001c0079t0050	a0001c0079t0050g0097 a0001c0079t0050g0097	1	196	0.0051	-126	c.655 others(17): Show c.655-9615_655-9490del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744397	TCCTGGCT others(119): Show TCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACGAGCACAGC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02717.hp2 HG01071.hp2 HG02717.hp2	a0001 a0001	a0001c0043 a0001c0087 a0001c0043 a0001c0087	a0001c0043t0008 a0001c0087t0002 a0001c0043t0008 a0001c0087t0002	a0001c0043t0008g0176 a0001c0087t0002g0051 a0001c0043t0008g0176 a0001c0087t0002g0051	2	196	0.0102	-126	c.655 others(17): Show c.655-9579_655-9454del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744613	CCCTGGTT others(119): Show CCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGGTTACGAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0052 a0001c0025t0052	a0001c0025t0052g0181 a0001c0025t0052g0181	1	196	0.0051	-126	c.655 others(17): Show c.655-9391_655-9266del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744709	CTACTAGC others(119): Show CTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0107 a0001c0056t0001g0107	1	196	0.0051	-126	c.655 others(17): Show c.655-9265_655-9140del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80840796	GCACGGCA others(119): Show GCACGGCAGCTCACTCTCACCACGCCGCAGCTCACACTCACCGCACGGCA GCTCACACTCACCACACGGCAGCTCACTCTCACCACACGGCAGCTCACAC TCACCACACGGCAGCTCACTCTCACCA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0076 a0001c0006t0076	a0001c0006t0076g0192 a0001c0006t0076g0192	1	196	0.0051	-126	c.121 others(19): Show c.1212+2817_1212+2942del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SBNO2_chr19_1102638_1179268	1137182	TGGGGTGC others(119): Show TGGGGTGCGGTTGGGGGAGGCTGGCACTGGGGTGCAGTGGAGGAGAGGCT CGGGCTGGGGTACAGTGGGGGGAGGCTCAGGCTGGGGTGAGGCTCGGGCC GGGGTGCGGTGGGGGGAGGCTCGGGCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02258.hp1 others(8): Show HG01891.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG03195.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0007 a0001c0010 a0001c0011 others(5): Show a0001c0007 a0001c0010 a0001c0011 a0001c0020 a0001c0024 a0001c0035 a0004c0012 a0008c0031	a0001c0007t0001 a0001c0010t0001 a0001c0011t0001 others(5): Show a0001c0007t0001 a0001c0010t0001 a0001c0011t0001 a0001c0020t0001 a0001c0024t0001 a0001c0035t0001 a0004c0012t0002 a0008c0031t0001	a0001c0007t0001g0176 a0001c0010t0001g0003 a0001c0010t0001g0022 others(8): Show a0001c0007t0001g0176 a0001c0010t0001g0003 a0001c0010t0001g0022 a0001c0010t0001g0035 a0001c0011t0001g0073 a0001c0011t0001g0112 a0001c0020t0001g0028 a0001c0024t0001g0179 a0001c0035t0001g0158 a0004c0012t0002g0005 a0008c0031t0001g0196	11	203	0.0542	-126	c.280 others(17): Show c.280-9543_280-9418del	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SCAMP5_chr15_74990563_75026495	74990984	CTCTTTCT others(119): Show CTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02818.hp1 others(9): Show HG02257.hp1 HG02451.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp1 NA19091.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0004 a0001c0003t0012 a0001c0002t0002 a0001c0003t0004 a0001c0003t0012	a0001c0002t0002g0009 a0001c0003t0004g0025 a0001c0003t0004g0259 others(7): Show a0001c0002t0002g0009 a0001c0003t0004g0025 a0001c0003t0004g0259 a0001c0003t0004g0260 a0001c0003t0004g0261 a0001c0003t0004g0262 a0001c0003t0004g0263 a0001c0003t0004g0265 a0001c0003t0004g0266 a0001c0003t0012g0264	12	370	0.0324	-126	c.-47 others(11): Show c.-4737_-4612del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4578		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990996	CTTTCTTT others(119): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	370	0.0027	-126	c.-47 others(11): Show c.-4725_-4600del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4566		chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1288302	TGCTCCGT others(119): Show TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	290	0.0035	-126	c.166 others(17): Show c.1662+266_1662+391del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288647	CCGTGTCT others(119): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	290	0.0035	-126	c.166 others(17): Show c.1662+612_1662+737del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289453	CCGTGTCT others(119): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18964.hp1 HG03490.hp2 NA18964.hp1	a0002 a0020 a0002 a0020	a0002c0002 a0020c0026 a0002c0002 a0020c0026	a0002c0002t0001 a0020c0026t0001 a0002c0002t0001 a0020c0026t0001	a0002c0002t0001g0037 a0020c0026t0001g0014 a0002c0002t0001g0037 a0020c0026t0001g0014	2	290	0.0069	-126	c.166 others(17): Show c.1663-816_1663-691del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289471	CCCCGTGT others(119): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	290	0.0035	-126	c.166 others(17): Show c.1663-760_1663-635del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444800	TACACATA others(119): Show TACACATATATTCGTACGAATATATATACACATATATTCGTACGAATATA TATACACATATATTCGTACGAATATATATACACATATATTCGTACGAATA TATATACATATATTCGTACGAATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp2 HG01175.hp1 others(22): Show HG00140.hp1 HG01074.hp2 HG01175.hp1 HG01255.hp2 HG01433.hp2 HG02055.hp2 HG02080.hp2 HG02129.hp2 HG02293.hp1 HG02523.hp1 HG02717.hp1 HG02965.hp2 HG02970.hp1 HG03491.hp2 HG03704.hp2 HG03927.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp2 NA18947.hp1 NA18980.hp1 NA19043.hp2 NA19083.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0003t0001 a0002c0003t0004	a0001c0001t0001g0110 a0001c0001t0001g0131 a0001c0001t0001g0146 others(22): Show a0001c0001t0001g0110 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0238 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0003g0049 a0001c0001t0003g0091 a0001c0001t0004g0012 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0048 a0002c0003t0001g0096 a0002c0003t0001g0117 a0002c0003t0004g0014 a0002c0003t0004g0076	25	290	0.0862	-126	c.114 others(19): Show c.1140+1833_1140+1958del	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SELENOI_chr2_26341143_26400885	26370482	GGGGGGCT others(119): Show GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACGTCCCAGTAGGGGCCACCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCTGGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00735.hp2 others(66): Show HG00099.hp1 HG00280.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp1 HG02055.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02895.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18944.hp1 NA18957.hp2 NA18971.hp1 NA19004.hp1 NA19043.hp1 NA19068.hp2 NA19077.hp2 NA19081.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(3): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0003t0012	a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0052 others(63): Show a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0177 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0008g0240 a0001c0001t0008g0241 a0001c0001t0008g0242 a0001c0001t0008g0243 a0001c0001t0008g0244 a0001c0001t0009g0068 a0001c0001t0009g0069 a0001c0001t0009g0070 a0001c0001t0009g0082 a0001c0001t0009g0083 a0001c0001t0009g0097 a0001c0001t0017g0100 a0001c0001t0018g0004 a0001c0003t0012g0057	69	334	0.2066	-126	c.311 others(17): Show c.311-2763_311-2638del	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHC2_chr19_411589_466033	457064	CCTAGAAC others(119): Show CCTAGAACTCTGTCTGCAAACCCCACCACATCAGGCCTTTGCACCTGCAC CTGCTGTGCCCCGACTAGAACTCTGTCTGCAAACCCCACCACATCAGGCC TTTGCACCAGCACCTGCTGTGCCCCGA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02559.hp2 others(3): Show HG01884.hp2 HG02145.hp1 HG02559.hp2 HG02818.hp1 NA19030.hp2 NA19240.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0023 a0003c0008 others(1): Show a0001c0001 a0001c0023 a0003c0008 a0011c0022	a0001c0001t0002 a0001c0023t0007 a0003c0008t0003 others(3): Show a0001c0001t0002 a0001c0023t0007 a0003c0008t0003 a0003c0008t0005 a0003c0008t0006 a0011c0022t0002	a0001c0001t0002g0057 a0001c0023t0007g0186 a0003c0008t0003g0183 others(3): Show a0001c0001t0002g0057 a0001c0023t0007g0186 a0003c0008t0003g0183 a0003c0008t0005g0182 a0003c0008t0006g0185 a0011c0022t0002g0184	6	212	0.0283	-126	c.468 others(17): Show c.468+3339_468+3464del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1070003	GAGCCCCC others(119): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0030 a0002c0011t0002g0030	1	118	0.0085	-126	c.224 others(19): Show c.2241+3504_2241+3629del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar

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