Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
OXSR1_chr3_38160537_38260484	38161590	TATGTATA others(106): Show TATGTATATTTCATATACATATGTCATATATTATGTATATTTCATATACA TATGTCATATATTATGTATATTTCATATACATGTCATATATTATGTATAT TTCATATACATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	219	0.0046	-113	c.-42 others(11): Show c.-4286_-4174del		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding					3946		chr3	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(106): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01070.hp2 HG01123.hp1 others(8): Show HG00609.hp1 HG01070.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01952.hp1 HG02486.hp2 HG02735.hp1 HG03017.hp2 NA19007.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0074 others(8): Show a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0099 a0001c0001t0001g0227 a0001c0001t0001g0247 a0001c0001t0001g0260 a0002c0002t0001g0117 a0002c0002t0001g0201 a0002c0002t0002g0178 a0002c0002t0002g0299	11	229	0.0480	-113	c.981 others(17): Show c.981+2240_981+2352del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PCGF3_chr4_700832_775089	744813	CCCGGGGG others(106): Show CCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02523.hp1 HG00733.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0183 a0001c0001t0007g0301 a0001c0001t0002g0183 a0001c0001t0007g0301	2	361	0.0055	-113	c.462 others(15): Show c.462+128_462+240del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745268	CCCGGGGG others(106): Show CCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0342 a0001c0001t0009g0342	1	362	0.0028	-113	c.462 others(15): Show c.462+583_462+695del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745382	CCCGGGGG others(106): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0338 a0002c0002t0002g0338	1	361	0.0028	-113	c.462 others(15): Show c.462+697_462+809del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745439	CCCGGGGG others(106): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA20905.hp1 HG01168.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0022 a0001c0001t0013 a0001c0001t0022	a0001c0001t0013g0048 a0001c0001t0022g0049 a0001c0001t0013g0048 a0001c0001t0022g0049	2	359	0.0056	-113	c.462 others(15): Show c.462+754_462+866del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745553	CCCGGGGG others(106): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0141 a0001c0003t0005g0141	1	361	0.0028	-113	c.462 others(15): Show c.462+868_462+980del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745895	CCCGGGGG others(106): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	364	0.0027	-113	c.462 others(17): Show c.462+1210_462+1322del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746036	CTCCGTGG others(106): Show CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCT	C C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18968.hp2 NA18957.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0030 a0001c0003t0015 a0001c0001t0030 a0001c0003t0015	a0001c0001t0030g0108 a0001c0003t0015g0089 a0001c0001t0030g0108 a0001c0003t0015g0089	2	364	0.0055	-113	c.462 others(17): Show c.462+1349_462+1461del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10						chr4	TogoVar
PCGF3_chr4_700832_775089	746069	CGGGGTCG others(106): Show CGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19085.hp2 NA19079.hp1 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0015 a0001c0003t0005 a0001c0003t0015	a0001c0003t0005g0132 a0001c0003t0015g0090 a0001c0003t0005g0132 a0001c0003t0015g0090	2	314	0.0064	-113	c.462 others(17): Show c.462+1463_462+1575del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746866	GGGGGTCG others(106): Show GGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA19004.hp1 HG04204.hp2 NA19004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0053 a0001c0003t0005 a0001c0003t0053	a0001c0003t0005g0139 a0001c0003t0053g0134 a0001c0003t0005g0139 a0001c0003t0053g0134	2	359	0.0056	-113	c.462 others(17): Show c.462+2292_462+2404del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746980	GGGGTCGC others(106): Show GGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	363	0.0028	-113	c.462 others(17): Show c.462+2296_462+2408del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747261	CCCCGGGG others(106): Show CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0033 a0002c0002t0003g0033	1	355	0.0028	-113	c.462 others(17): Show c.462+2581_462+2693del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747436	GGGGGTCG others(106): Show GGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02886.hp2 HG03453.hp2 HG01433.hp2 HG02886.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0009 a0002c0002t0016 a0001c0001t0003 a0001c0001t0009 a0002c0002t0016	a0001c0001t0003g0162 a0001c0001t0009g0326 a0002c0002t0016g0077 a0001c0001t0003g0162 a0001c0001t0009g0326 a0002c0002t0016g0077	3	360	0.0083	-113	c.462 others(17): Show c.462+2862_462+2974del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747550	GGGGTCGC others(106): Show GGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02523.hp2 HG03831.hp1 HG00735.hp2 HG02523.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0045 a0001c0001t0003g0268 a0001c0001t0008g0349 a0001c0001t0003g0045 a0001c0001t0003g0268 a0001c0001t0008g0349	3	364	0.0082	-113	c.462 others(17): Show c.462+2866_462+2978del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE4D_chr5_58964038_59898726	59172032	TATATTAT others(106): Show TATATTATATATATAATATATATATATTATATATATAATAAATATATATT ATATATATAATAAATATATATTATATATATAATAAATATATATTATATAT ATAATAAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	74	0.0135	-113	c.808 others(17): Show c.808+8450_808+8562del		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14						chr5	TogoVar
PEX5_chr12_7184686_7216459	7196692	TGTCACAT others(106): Show TGTCACATATAATGTAATAATTATATATGTCACATATAATGTAATAATTA TATATGTCACATATAATGTAATAATTATATATGTCACATATAATGTAATA ATTATATATGTCAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0171 a0001c0001t0019g0171	1	426	0.0023	-113	c.449 others(17): Show c.449-2318_449-2206del		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15						chr12	TogoVar
PLEC_chr8_143910153_143944597	143931280	CTTGGCTG others(106): Show CTTGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCC CTCCAGTTGCCCCCTAGTCTCCAGAGTACCCATGCAGCCCAGAACATCCT GCCTCATTCCCGCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00597.hp1 others(77): Show HG00099.hp2 HG00323.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02027.hp2 HG02056.hp2 HG02145.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02922.hp1 HG03195.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18944.hp2 NA18945.hp1 NA18952.hp2 NA18954.hp2 NA18971.hp2 NA18977.hp1 NA18984.hp1 NA18986.hp1 NA18994.hp1 NA19000.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19067.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0002 a0010 a0014 others(20): Show a0002 a0010 a0014 a0015 a0017 a0018 a0025 a0029 a0034 a0036 a0038 a0042 a0043 a0048 a0056 a0065 a0080 a0083 a0085 a0086 a0096 a0102 a0105	a0002c0002 a0002c0005 a0002c0015 others(40): Show a0002c0002 a0002c0005 a0002c0015 a0002c0043 a0002c0048 a0002c0053 a0002c0054 a0002c0056 a0002c0058 a0002c0060 a0002c0062 a0002c0064 a0002c0069 a0002c0070 a0002c0071 a0002c0076 a0010c0017 a0010c0066 a0010c0067 a0014c0016 a0015c0073 a0015c0074 a0015c0075 a0017c0049 a0017c0063 a0018c0022 a0025c0023 a0029c0061 a0034c0077 a0036c0055 a0038c0068 a0042c0072 a0043c0059 a0048c0046 a0056c0078 a0065c0047 a0080c0050 a0083c0045 a0085c0057 a0086c0044 a0096c0052 a0102c0051 a0105c0065	a0002c0002t0002 a0002c0002t0014 a0002c0005t0002 others(42): Show a0002c0002t0002 a0002c0002t0014 a0002c0005t0002 a0002c0015t0007 a0002c0015t0010 a0002c0043t0002 a0002c0048t0002 a0002c0053t0007 a0002c0054t0002 a0002c0056t0002 a0002c0058t0001 a0002c0060t0002 a0002c0062t0002 a0002c0064t0002 a0002c0069t0002 a0002c0070t0002 a0002c0071t0007 a0002c0076t0002 a0010c0017t0002 a0010c0066t0002 a0010c0067t0002 a0014c0016t0002 a0015c0073t0001 a0015c0074t0001 a0015c0075t0001 a0017c0049t0002 a0017c0063t0002 a0018c0022t0002 a0025c0023t0003 a0029c0061t0002 a0034c0077t0002 a0036c0055t0002 a0038c0068t0002 a0042c0072t0002 a0043c0059t0002 a0048c0046t0002 a0056c0078t0003 a0065c0047t0002 a0080c0050t0002 a0083c0045t0002 a0085c0057t0002 a0086c0044t0002 a0096c0052t0002 a0102c0051t0002 a0105c0065t0002	a0002c0002t0002g0006 a0002c0002t0002g0013 a0002c0002t0002g0020 others(65): Show a0002c0002t0002g0006 a0002c0002t0002g0013 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0054 a0002c0002t0002g0057 a0002c0002t0002g0060 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0073 a0002c0002t0002g0077 a0002c0002t0002g0088 a0002c0002t0014g0093 a0002c0005t0002g0007 a0002c0005t0002g0050 a0002c0005t0002g0051 a0002c0005t0002g0091 a0002c0015t0007g0119 a0002c0015t0007g0122 a0002c0015t0010g0041 a0002c0043t0002g0045 a0002c0048t0002g0047 a0002c0053t0007g0121 a0002c0054t0002g0097 a0002c0056t0002g0062 a0002c0058t0001g0068 a0002c0060t0002g0085 a0002c0062t0002g0096 a0002c0064t0002g0079 a0002c0069t0002g0072 a0002c0070t0002g0092 a0002c0071t0007g0120 a0002c0076t0002g0094 a0010c0017t0002g0081 a0010c0017t0002g0086 a0010c0017t0002g0089 a0010c0066t0002g0082 a0010c0067t0002g0083 a0014c0016t0002g0055 a0014c0016t0002g0063 a0014c0016t0002g0069 a0015c0073t0001g0043 a0015c0074t0001g0067 a0015c0075t0001g0059 a0017c0049t0002g0090 a0017c0063t0002g0058 a0018c0022t0002g0019 a0025c0023t0003g0052 a0025c0023t0003g0098 a0029c0061t0002g0078 a0034c0077t0002g0095 a0036c0055t0002g0070 a0038c0068t0002g0046 a0042c0072t0002g0074 a0043c0059t0002g0071 a0048c0046t0002g0087 a0056c0078t0003g0053 a0065c0047t0002g0084 a0080c0050t0002g0061 a0083c0045t0002g0065 a0085c0057t0002g0056 a0086c0044t0002g0099 a0096c0052t0002g0076 a0102c0051t0002g0075 a0105c0065t0002g0080	80	356	0.2247	-113	c.230 others(17): Show c.2304+141_2304+253del		PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	19/31						chr8	TogoVar
PLEC_chr8_143910153_143944597	143931282	TGGCTGAC others(106): Show TGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCT CCAGTTGCCCCCTAGTCTCCAGAGTACCCATGCAGCCCAGAACATCCTGC CTCATTCCCGCTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02300.hp2 NA19012.hp1 others(1): Show HG00423.hp1 HG02300.hp2 NA19012.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0031 a0001c0197 a0001c0001 a0001c0031 a0001c0197	a0001c0001t0001 a0001c0031t0001 a0001c0197t0001 a0001c0001t0001 a0001c0031t0001 a0001c0197t0001	a0001c0001t0001g0001 a0001c0031t0001g0031 a0001c0197t0001g0170 a0001c0001t0001g0001 a0001c0031t0001g0031 a0001c0197t0001g0170	4	342	0.0117	-113	c.230 others(17): Show c.2304+139_2304+251del		PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	19/31						chr8	TogoVar
PLEC_chr8_143910153_143978529	143931280	CTTGGCTG others(106): Show CTTGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCC CTCCAGTTGCCCCCTAGTCTCCAGAGTACCCATGCAGCCCAGAACATCCT GCCTCATTCCCGCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00597.hp1 others(72): Show HG00099.hp2 HG00323.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02027.hp2 HG02056.hp2 HG02145.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02922.hp1 HG03195.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18944.hp2 NA18945.hp1 NA18952.hp2 NA18954.hp2 NA18971.hp2 NA18977.hp1 NA18982.hp2 NA18984.hp1 NA18994.hp1 NA19000.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19057.hp1 NA19067.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0002 a0008 a0013 others(18): Show a0002 a0008 a0013 a0014 a0017 a0018 a0019 a0025 a0028 a0033 a0036 a0040 a0041 a0046 a0053 a0062 a0074 a0076 a0085 a0092 a0095	a0002c0002 a0002c0005 a0002c0019 others(36): Show a0002c0002 a0002c0005 a0002c0019 a0002c0037 a0002c0041 a0002c0046 a0002c0047 a0002c0049 a0002c0051 a0002c0053 a0002c0058 a0002c0059 a0002c0060 a0002c0065 a0008c0011 a0008c0055 a0008c0056 a0013c0010 a0014c0062 a0014c0063 a0014c0064 a0017c0042 a0017c0052 a0018c0018 a0019c0017 a0025c0020 a0028c0050 a0033c0066 a0036c0057 a0040c0061 a0041c0048 a0046c0039 a0053c0067 a0062c0040 a0074c0043 a0076c0038 a0085c0045 a0092c0044 a0095c0054	a0002c0002t0002 a0002c0002t0013 a0002c0005t0002 others(37): Show a0002c0002t0002 a0002c0002t0013 a0002c0005t0002 a0002c0019t0007 a0002c0037t0002 a0002c0041t0002 a0002c0046t0007 a0002c0047t0002 a0002c0049t0002 a0002c0051t0002 a0002c0053t0002 a0002c0058t0002 a0002c0059t0002 a0002c0060t0007 a0002c0065t0002 a0008c0011t0002 a0008c0055t0002 a0008c0056t0002 a0013c0010t0002 a0014c0062t0001 a0014c0063t0001 a0014c0064t0001 a0017c0042t0002 a0017c0052t0002 a0018c0018t0002 a0019c0017t0002 a0025c0020t0003 a0028c0050t0002 a0033c0066t0002 a0036c0057t0002 a0040c0061t0002 a0041c0048t0002 a0046c0039t0002 a0053c0067t0003 a0062c0040t0002 a0074c0043t0002 a0076c0038t0002 a0085c0045t0002 a0092c0044t0002 a0095c0054t0002	a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0020 others(72): Show a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0028 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0045 a0002c0002t0002g0053 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0067 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0108 a0002c0002t0002g0111 a0002c0002t0002g0114 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0013g0117 a0002c0005t0002g0041 a0002c0005t0002g0042 a0002c0005t0002g0050 a0002c0005t0002g0055 a0002c0005t0002g0056 a0002c0005t0002g0069 a0002c0005t0002g0177 a0002c0019t0007g0038 a0002c0019t0007g0049 a0002c0037t0002g0065 a0002c0041t0002g0060 a0002c0046t0007g0054 a0002c0047t0002g0018 a0002c0049t0002g0047 a0002c0051t0002g0116 a0002c0053t0002g0068 a0002c0058t0002g0023 a0002c0059t0002g0033 a0002c0060t0007g0048 a0002c0065t0002g0022 a0008c0011t0002g0029 a0008c0011t0002g0030 a0008c0011t0002g0062 a0008c0055t0002g0051 a0008c0056t0002g0046 a0013c0010t0002g0040 a0013c0010t0002g0043 a0013c0010t0002g0075 a0014c0062t0001g0106 a0014c0063t0001g0110 a0014c0064t0001g0072 a0017c0042t0002g0176 a0017c0052t0002g0113 a0018c0018t0002g0016 a0018c0018t0002g0039 a0019c0017t0002g0019 a0019c0017t0002g0021 a0025c0020t0003g0092 a0025c0020t0003g0093 a0028c0050t0002g0037 a0033c0066t0002g0172 a0036c0057t0002g0024 a0040c0061t0002g0109 a0041c0048t0002g0025 a0046c0039t0002g0112 a0053c0067t0003g0091 a0062c0040t0002g0026 a0074c0043t0002g0044 a0076c0038t0002g0074 a0085c0045t0002g0027 a0092c0044t0002g0057 a0095c0054t0002g0052	75	300	0.2500	-113	c.226 others(17): Show c.2262+141_2262+253del		PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	19/31						chr8	TogoVar
PLEC_chr8_143910153_143978529	143931282	TGGCTGAC others(106): Show TGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCT CCAGTTGCCCCCTAGTCTCCAGAGTACCCATGCAGCCCAGAACATCCTGC CTCATTCCCGCTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02300.hp2 NA19012.hp1 HG00423.hp1 HG02300.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0106 a0001c0171 a0001c0001 a0001c0106 a0001c0171	a0001c0001t0001 a0001c0106t0001 a0001c0171t0001 a0001c0001t0001 a0001c0106t0001 a0001c0171t0001	a0001c0001t0001g0164 a0001c0106t0001g0244 a0001c0171t0001g0239 a0001c0001t0001g0164 a0001c0106t0001g0244 a0001c0171t0001g0239	3	287	0.0105	-113	c.226 others(17): Show c.2262+139_2262+251del		PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	19/31						chr8	TogoVar
PLEKHN1_chr1_961482_980865	964575	GGCTGTGG others(106): Show GGCTGTGGGAGGGGTCCGCGCGTCCGCAGTGGGGATGTGCTGCGGGGAGG GGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTC CGCAGTGGGGATGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02451.hp1 others(5): Show HG01884.hp2 HG02257.hp2 HG02451.hp1 HG02622.hp2 HG03041.hp1 HG03209.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0010 a0001c0012 others(3): Show a0001c0001 a0001c0010 a0001c0012 a0001c0049 a0002c0006 a0003c0003	a0001c0001t0017 a0001c0010t0018 a0001c0012t0001 others(4): Show a0001c0001t0017 a0001c0010t0018 a0001c0012t0001 a0001c0049t0018 a0002c0006t0007 a0003c0003t0005 a0003c0003t0017	a0001c0001t0017g0020 a0001c0010t0018g0045 a0001c0012t0001g0044 others(5): Show a0001c0001t0017g0020 a0001c0010t0018g0045 a0001c0012t0001g0044 a0001c0049t0018g0045 a0002c0006t0007g0104 a0003c0003t0005g0020 a0003c0003t0005g0044 a0003c0003t0017g0020	8	386	0.0207	-113	c.-19 others(11): Show c.-1956_-1844del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1906		chr1	TogoVar
PLEKHN1_chr1_961482_980865	964619	GGGAGGGG others(106): Show GGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCG CGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGT GGGGATGTGCTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0138 a0002c0002t0002g0138	1	420	0.0024	-113	c.-19 others(11): Show c.-1912_-1800del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1862		chr1	TogoVar
PLEKHN1_chr1_961482_980865	964631	CGGGTCCG others(106): Show CGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGT GGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTG CCGGGAGGGGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02717.hp2 HG02970.hp1 others(6): Show HG01192.hp2 HG02717.hp2 HG02970.hp1 HG03130.hp1 NA18947.hp2 NA19009.hp1 NA19057.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0007 a0001c0010 others(3): Show a0001c0001 a0001c0007 a0001c0010 a0002c0002 a0004c0028 a0009c0020	a0001c0001t0001 a0001c0001t0005 a0001c0007t0001 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0007t0001 a0001c0010t0003 a0002c0002t0002 a0004c0028t0003 a0004c0028t0035 a0009c0020t0003	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0005g0160 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0005g0160 a0001c0007t0001g0001 a0001c0010t0003g0079 a0002c0002t0002g0050 a0004c0028t0003g0002 a0004c0028t0035g0002 a0009c0020t0003g0002	9	393	0.0229	-113	c.-19 others(11): Show c.-1900_-1788del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1850		chr1	TogoVar
PLEKHN1_chr1_961482_980865	964661	GGGGGGCG others(106): Show GGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGG TCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGG ATGTGCTGCCGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	418	0.0024	-113	c.-18 others(11): Show c.-1870_-1758del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1820		chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122950	GTGGTAGT others(106): Show GTGGTAGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTG GTGGTTAGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGTCGT GGTGGTTAGGGTCA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18947.hp1 NA18954.hp1 others(3): Show HG04184.hp1 NA18947.hp1 NA18954.hp1 NA18983.hp1 NA19055.hp1 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 others(3): Show a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0210 a0001c0002t0001g0284	6	284	0.0211	-113	c.335 others(19): Show c.335-12311_335-12199del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PXMP2_chr12_132682587_132709985	132693613	GCCCTTGC others(106): Show GCCCTTGCCAGTCAGTGAGCGCCCTTGCCAGTTAGTGAGCGCCCTTGCCA GTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAG TTAGTTAGTGAGCT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG02717.hp1 others(1): Show HG01243.hp1 HG02630.hp1 HG02717.hp1 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0025 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0004g0025 a0001c0004t0004g0042 a0001c0004t0004g0043	4	318	0.0126	-113	c.237 others(17): Show c.237-2259_237-2147del		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB12_chr18_8604437_8644383	8634166	ATGGTGAC others(106): Show ATGGTGACTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAAGCAAGAG GATCACTTGAACCCAGGAGGTCGAGACCAGCCTGGGCAACATAGTGGGAC TCCATCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG04228.hp2 NA18955.hp1 others(2): Show HG00438.hp2 HG04228.hp2 NA18955.hp1 NA18985.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0090 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0090 a0001c0001t0001g0100	5	291	0.0172	-113	c.714 others(15): Show c.714+841_714+953del		RAB12	ENSG00000206418.5	transcript	ENST00000649141.2	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB39B_chrX_155253235_155269491	155256596	GGGAACAA others(106): Show GGGAACAAGGACTAGGGAGGCTAGTTAGGAAGATAGCGAAGTAAGAGTTC ATAGTGGCCTGGACAAACGTGGTATCAATGGAGATGGAGAAAAGTGGCAG ACACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG03195.hp2 HG03579.hp1 HG02451.hp1 HG03195.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0024 a0001c0001t0008g0013 a0001c0001t0001g0024 a0001c0001t0008g0013	3	290	0.0103	-113	c.40 others(11): Show c.4094_*4206del		RAB39B	ENSG00000155961.5	transcript	ENST00000369454.4	protein_coding					1638		chrX	TogoVar
RALA_chr7_39618572_39713120	39621153	TTTTATCC others(106): Show TTTTATCCTAGACAAATTGAGAATACTGTATTTAAATAATCTAAGACGTA AGTGAACGCGTTTCTCTTTTTTTGTGTGTTCAAAAATGCTGCTCTACAGG GATATAGAGTTAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02622.hp1 others(4): Show HG01891.hp2 HG02145.hp1 HG02622.hp1 HG02896.hp2 HG03453.hp1 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0236 a0001c0001t0001g0237 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0323	7	364	0.0192	-113	c.-27 others(11): Show c.-2709_-2597del		RALA	ENSG00000006451.8	transcript	ENST00000005257.7	protein_coding					2418		chr7	TogoVar
RAP1GDS1_chr4_98256384_98448858	98330526	GCGCTCCT others(106): Show GCGCTCCTCACCTCCCAGACGGGGCGGCCGGACAGAGGCGCTCCTCACAT CCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCCCAGACGATGGG CGGCCGGGCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	240	0.0042	-113	c.113 others(19): Show c.113-12602_113-12490del		RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr4	TogoVar
RASA3_chr13_113972783_114137623	114001397	GGGCAGTG others(106): Show GGGCAGTGGACGCTCACACACAGAGGACCTACGGCCGCGGGCTCGGGGTC AGGGTGGGCAGTGGACACTCACGCAACATGGAGGACCTACAGGCGCGGGC TCGGGGTCAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	66	0.0152	-113	c.174 others(17): Show c.1743-578_1743-466del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114001441	GGGGTCAG others(106): Show GGGGTCAGGGTGGGCAGTGGACACTCACGCAACATGGAGGACCTACAGGC GCGGGCTCGGGGTCAGGGCAGGCAGTGGACGCTCACACACAGAGGACCTA CAGCCGCGGGCTCA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0017 a0001c0005t0001g0017	1	66	0.0152	-113	c.174 others(17): Show c.1743-622_1743-510del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114072857	CGGGACAC others(106): Show CGGGACACTGTCTACACACAGAAAAATTCTCTACACGCGGGAAAATGGGA CAGTGATGTACACGCTCAGGACATTCTCTACACATGGGAAAATGGGACGG TGATATACACACTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03540.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0038 a0001c0001t0001g0039	2	66	0.0303	-113	c.173 others(15): Show c.173+750_173+862del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23						chr13	TogoVar
RBM26_chr13_79313868_79411255	79372814	TTTATAAT others(106): Show TTTATAATAAATATTTTATATAAATATATTATATATTATATAAATATAAA TATATTTATAATATTTTATATGCTATATAAAATATATCTTATATATTACA TATTTTATATAATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp2 HG02451.hp2 others(4): Show HG00735.hp2 HG01884.hp2 HG02451.hp2 HG02572.hp1 HG02717.hp1 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0204 others(4): Show a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0204 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0008g0203	7	317	0.0221	-113	c.328 others(15): Show c.328-997_328-885del		RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	3/21						chr13	TogoVar
RBM26_chr13_79313868_79411255	79373045	TATAAGAT others(106): Show TATAAGATATATCTTATATATTACATATTTTATATAATATATAAGATATA TCTTATATATTACATATTTTATATAATATATAAGATATATCTTATATATT ATATATTTTATGTA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01358.hp1 others(3): Show HG01256.hp1 HG01258.hp2 HG01358.hp1 HG02280.hp2 HG03688.hp2 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 others(3): Show a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287	6	326	0.0184	-113	c.328 others(17): Show c.328-1228_328-1116del		RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	3/21						chr13	TogoVar
RNF167_chr17_4935268_4950222	4944835	AAGAGGAG others(106): Show AAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGG ACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTT AGCCCCAGCTCCCC	A A	frameshift_variant frameshift_variant	HIGH	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0003 a0003c0006t0001g0003	1	438	0.0023	-113	c.873 others(7): Show c.873_985del	p.Gln others(5): Show p.Gln291fs	RNF167	ENSG00000108523.16	transcript	ENST00000262482.11	protein_coding	10/10	1389/1775	873/1053	291/350			chr17	TogoVar
RPH3AL_chr17_207389_357807	233839	CCCCTGAC others(106): Show CCCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTCCCCTGACCAACT TTCCCCCAAGCGGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAG GGAGCGGCTACTTA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	75	0.0133	-113	c.613 others(19): Show c.613+13159_613+13271del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	234196	AGGGAGCG others(106): Show AGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTAC TTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAA CTTTCCCCCAAGCG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	106	0.0094	-113	c.613 others(19): Show c.613+12802_613+12914del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	234228	TGAGCAGG others(106): Show TGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCG GCTACTTACCCTGACCAACTTTCCCCCAAGCGGGGAGCGGCTACTTACCC TGACCAACTTCCCC	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0007 a0001c0015t0007	a0001c0015t0007g0026 a0001c0015t0007g0026	1	51	0.0196	-113	c.613 others(19): Show c.613+12770_613+12882del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	234265	TGAGCAGG others(106): Show TGAGCAGGGAGCGGCTACTTACCCTGACCAACTTTCCCCCAAGCGGGGAG CGGCTACTTACCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTTACCC TGACCAACTTCCCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG03540.hp1 HG01243.hp2 HG02723.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0027 a0001c0001t0006 a0001c0001t0022 a0001c0001t0027	a0001c0001t0006g0072 a0001c0001t0022g0071 a0001c0001t0027g0118 a0001c0001t0006g0072 a0001c0001t0022g0071 a0001c0001t0027g0118	3	106	0.0283	-113	c.613 others(19): Show c.613+12733_613+12845del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPS23_chr5_82268320_82283354	82272836	GTGGGTGA others(106): Show GTGGGTGATCAGGCCACGCTTCCACTCAGATGGAGTGGGGCAAGTTCCAA AGACTAGTTTTACCAAGTCAAGCCAAGTCAAAACCAGAACAAAAGTGCCA ATACAGGCACACCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18987.hp2 NA18975.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	416	0.0048	-113	c.31 others(11): Show c.3160_*3272del		RPS23	ENSG00000186468.13	transcript	ENST00000296674.13	protein_coding					483		chr5	TogoVar
SARDH_chr9_133658560_133743352	133669035	TTCCCTCT others(106): Show TTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCC TCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTC CCTCTCCCTTACCC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG04115.hp1 HG01257.hp2 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0133 a0002c0002t0001g0204 a0001c0001t0001g0133 a0002c0002t0001g0204	2	218	0.0092	-113	c.249 others(19): Show c.2495+1436_2495+1548del		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133669067	CTCCATCT others(106): Show CTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTC CCTCTCCCTCACCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0122 a0001c0024t0001g0122	1	204	0.0049	-113	c.249 others(19): Show c.2495+1404_2495+1516del		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SCG3_chr15_51676503_51726026	51697177	TTCTTTCT others(106): Show TTCTTTCTCTTATATAACAAAAAATAAGCTCATATTACACATAGTGCTTT GGGGTCTACTTTATTGTTTTCACAGTAGACCAAAGACACTGTTTTCATAT CAATAACTTTCATA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01891.hp2 HG02055.hp2 others(21): Show HG01255.hp1 HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 NA18906.hp1 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0009 a0002c0003 a0002c0009	a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 others(2): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 a0002c0003t0011 a0002c0009t0003	a0002c0003t0001g0318 a0002c0003t0003g0002 a0002c0003t0003g0282 others(16): Show a0002c0003t0001g0318 a0002c0003t0003g0002 a0002c0003t0003g0282 a0002c0003t0003g0310 a0002c0003t0003g0312 a0002c0003t0003g0314 a0002c0003t0003g0315 a0002c0003t0003g0316 a0002c0003t0003g0317 a0002c0003t0003g0319 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0003g0323 a0002c0003t0003g0325 a0002c0003t0003g0326 a0002c0003t0005g0324 a0002c0003t0011g0002 a0002c0003t0011g0313 a0002c0009t0003g0320	24	400	0.0600	-113	c.985 others(17): Show c.985+1189_985+1301del		SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
SCN11A_chr3_38840764_39056944	38877021	GTATATAT others(106): Show GTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATAT ATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATATA TATGGTGTATATAC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	210	0.0048	-113	c.339 others(19): Show c.3393+2816_3393+2928del		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29						chr3	TogoVar
SELENOP_chr5_42794880_42816892	42813983	GGCGTGCC others(106): Show GGCGTGCCTGTATTGGCACTTTTGTTCTGGTTTTGACTTGGCTTGACTTG GTAAGACTAGTCTTTGGAACTTGCCCCACTCCATCTGAGTGGAAGTGTGG CCTGATCACCCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02486.hp1 others(5): Show HG01884.hp2 HG02451.hp2 HG02486.hp1 HG02896.hp1 HG02897.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0011 a0002c0003t0004g0051 a0002c0003t0004g0011 a0002c0003t0004g0051	8	394	0.0203	-113	c.-22 others(11): Show c.-2274_-2162del		SELENOP	ENSG00000250722.6	transcript	ENST00000514985.6	protein_coding					2092	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr5	TogoVar
SELENOP_chr5_42794880_42816892	42813993	TATTGGCA others(106): Show TATTGGCACTTTTGTTCTGGTTTTGACTTGGCTTGACTTGGTAAGACTAG TCTTTGGAACTTGCCCCACTCCATCTGAGTGGAAGTGTGGCCTGATCACC CACAGCGTGCCTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01123.hp2 HG01243.hp2 others(1): Show HG00423.hp2 HG01123.hp2 HG01243.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0074 a0001c0002t0003g0014 a0001c0001t0002g0074 a0001c0002t0003g0014	4	371	0.0108	-113	c.-22 others(11): Show c.-2284_-2172del		SELENOP	ENSG00000250722.6	transcript	ENST00000514985.6	protein_coding					2102	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr5	TogoVar
SGTA_chr19_2749715_2788273	2777271	AGGCGCAG others(106): Show AGGCGCAGTGGCTCACACCTGTGATCCCAGCAGCACTTCGGGAGGCCAAA GCGGGGGGATCACTTGAGCATAGGAATTCAAGAGCAGCCTGGGCAACATA GGGAGACCCCATCT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02895.hp1 HG02109.hp1 HG02615.hp2 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0013 a0001c0003t0012 a0001c0003t0013	a0001c0003t0012g0313 a0001c0003t0012g0314 a0001c0003t0013g0309 a0001c0003t0012g0313 a0001c0003t0012g0314 a0001c0003t0013g0309	3	391	0.0077	-113	c.-24 others(17): Show c.-24+5849_-24+5961del		SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11						chr19	TogoVar
SHROOM2_chrX_9781429_9954443	9792033	ATAGAATA others(106): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01361.hp2 HG01884.hp2 others(15): Show HG01256.hp1 HG01361.hp2 HG01884.hp2 HG02027.hp1 HG02145.hp1 HG02257.hp2 HG02293.hp1 HG02451.hp2 HG02683.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG03195.hp1 HG03492.hp1 HG03540.hp1 HG03704.hp2 HG06807.hp2 NA18989.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0017 a0021 a0032 a0040	a0001c0001 a0001c0013 a0002c0002 others(10): Show a0001c0001 a0001c0013 a0002c0002 a0002c0010 a0002c0011 a0002c0014 a0002c0017 a0002c0019 a0003c0004 a0017c0028 a0021c0038 a0032c0056 a0040c0042	a0001c0001t0001 a0001c0013t0001 a0002c0002t0002 others(10): Show a0001c0001t0001 a0001c0013t0001 a0002c0002t0002 a0002c0010t0008 a0002c0011t0002 a0002c0014t0023 a0002c0017t0007 a0002c0019t0006 a0003c0004t0003 a0017c0028t0001 a0021c0038t0001 a0032c0056t0008 a0040c0042t0003	a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0199 others(15): Show a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0219 a0001c0013t0001g0182 a0002c0002t0002g0256 a0002c0010t0008g0010 a0002c0011t0002g0101 a0002c0014t0023g0201 a0002c0017t0007g0009 a0002c0019t0006g0198 a0003c0004t0003g0177 a0003c0004t0003g0180 a0017c0028t0001g0139 a0021c0038t0001g0134 a0032c0056t0008g0138 a0040c0042t0003g0137	18	230	0.0783	-113	c.165 others(17): Show c.165+5324_165+5436del		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9						chrX	TogoVar

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