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
SAAL1_chr11_18075292_18111082	18076631	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03453.hp1 HG02145.hp1 HG03453.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0077 a0006c0006t0001g0063 a0001c0001t0001g0077 a0006c0006t0001g0063	2	222	0.0090	15	c.37 others(26): Show c.3767_*3768insCTTTCTTTCTTTCTT		SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding					3660		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0039 a0001c0002t0004g0039	1	53	0.0189	15	c.-28 others(26): Show c.-2803_-2802insTATATATATATATAT		SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding					2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0131 a0001c0002t0002g0131	1	53	0.0189	15	c.-28 others(26): Show c.-2803_-2802insTATATATTTTTTTTT		SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding					2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 NA19007.hp2 NA19010.hp2 HG03098.hp2 NA19007.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0007 a0001c0002t0004 a0001c0002t0007	a0001c0002t0004g0102 a0001c0002t0007g0243 a0001c0002t0007g0246 a0001c0002t0004g0102 a0001c0002t0007g0243 a0001c0002t0007g0246	3	55	0.0545	15	c.-28 others(26): Show c.-2803_-2802insTATATTTTTTTTTTT		SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding					2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 NA18747.hp1 NA19012.hp1 others(2): Show HG00597.hp2 NA18747.hp1 NA19012.hp1 NA19057.hp2 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0007 a0002c0001t0001 a0001c0002t0002 a0001c0002t0007 a0002c0001t0001	a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0007g0021 others(2): Show a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0007g0021 a0001c0002t0007g0245 a0002c0001t0001g0250	5	57	0.0877	15	c.-28 others(26): Show c.-2803_-2802insTATTTTTTTTTTTTT		SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding					2732		chr3	TogoVar
SACS_chr13_23323830_23438702	23399019	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18950.hp2 HG02145.hp1 NA18950.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0004 a0001c0002t0002 a0002c0001t0004	a0001c0002t0002g0016 a0002c0001t0004g0292 a0001c0002t0002g0016 a0002c0001t0004g0292	2	122	0.0164	15	c.20+ others(32): Show c.20+12186_20+12200dupTTTTTTTTTTTTTTT		SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9						chr13	TogoVar
SACS_chr13_23323830_23438702	23409040	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01943.hp1 HG01952.hp2 others(10): Show HG01106.hp1 HG01943.hp1 HG01952.hp2 HG02004.hp2 NA18942.hp2 NA18959.hp2 NA18966.hp1 NA18967.hp1 NA18974.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0003 a0001c0003t0001 a0002c0001t0001 a0001c0002t0003 a0001c0003t0001 a0002c0001t0001	a0001c0002t0003g0049 a0001c0002t0003g0060 a0001c0002t0003g0073 others(10): Show a0001c0002t0003g0049 a0001c0002t0003g0060 a0001c0002t0003g0073 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0172 a0001c0002t0003g0275 a0001c0002t0003g0287 a0001c0002t0003g0296 a0001c0002t0003g0343 a0001c0002t0003g0360 a0001c0003t0001g0340 a0002c0001t0001g0187	13	20	0.6500	15	c.20+ others(30): Show c.20+2165_20+2179dupAAAAAAAAAAAAAAA		SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9						chr13	TogoVar
SAE1_chr19_47125835_47215636	47186287	G G	GGATTTGG others(8): Show GGATTTGGGATTCTTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0343 a0001c0011t0001g0343	1	378	0.0026	15	c.734 others(34): Show c.734-10937_734-10923dupATTCTTAGATTTGGG		SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
SAE1_chr19_47125835_47215636	47201360	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	33	0.0303	15	c.879 others(32): Show c.879-2296_879-2282dupTTTTTTTTTTTTTTT		SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
SAFB_chr19_5618083_5673478	5660342	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	75	0.0133	15	c.186 others(34): Show c.1863-1163_1863-1149dupTTTTTTTTTTTTTTT		SAFB	ENSG00000160633.13	transcript	ENST00000588852.2	protein_coding	14/20					INFO_REALIGN_3_PRIME	chr19	TogoVar
SAGE1_chrX_135888716_135918062	135901209	C C	CAAGGGCT others(8): Show CAAGGGCTGAGACAAA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	247	0.0040	15	c.88- others(28): Show c.88-348_88-334dupAGGGCTGAGACAAAA		SAGE1	ENSG00000181433.12	transcript	ENST00000370709.4	protein_coding	2/19					INFO_REALIGN_3_PRIME	chrX	TogoVar
SAGSIN1_chr7_6324411_6353967	6347883	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01192.hp2 HG01496.hp1 others(7): Show HG00099.hp1 HG01192.hp2 HG01496.hp1 HG02109.hp1 HG02257.hp1 HG02735.hp1 HG02895.hp2 HG04199.hp1 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0303 a0001c0001t0001g0330 a0001c0001t0001g0383 others(6): Show a0001c0001t0001g0303 a0001c0001t0001g0330 a0001c0001t0001g0383 a0001c0001t0003g0011 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0099 a0001c0001t0005g0328 a0001c0001t0006g0356	10	46	0.2174	15	c.186 others(30): Show c.186+675_186+689dupTAATAATAATAATAA		SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	1/1						chr7	TogoVar
SAG_chr2_233302816_233352055	233304816	G G	GTCTTTTT others(8): Show GTCTTTTTTCTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 NA19086.hp1 HG02965.hp2 NA19086.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0072 a0002c0007t0001g0073 a0002c0007t0001g0072 a0002c0007t0001g0073	2	366	0.0055	15	c.-32 others(26): Show c.-3235_-3234insTCTTTTTTCTTTTTT		SAG	ENSG00000130561.17	transcript	ENST00000409110.6	protein_coding					2999		chr2	TogoVar
SALL1_chr16_51130982_51156270	51147780	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	39	0.0256	15	c.76+ others(30): Show c.76+3385_76+3386insGTGTGTGTGTGTGTG		SALL1	ENSG00000103449.13	transcript	ENST00000251020.9	protein_coding	1/2						chr16	TogoVar
SALL3_chr18_78974818_79003969	78992945	T T	TGCCCCCG others(8): Show TGCCCCCGCTGCCCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03225.hp1 HG03225.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0007 a0011c0020t0007	a0011c0020t0007g0006 a0011c0020t0007g0006	1	314	0.0032	15	c.960 others(22): Show c.960_974dupCGCTGCCCCCGCCCC	p.Pro others(28): Show p.Pro325_Ala326insAlaAlaProAlaPro	SALL3	ENSG00000256463.10	transcript	ENST00000537592.7	protein_coding	2/3	1432/6007	975/3903	325/1300		INFO_REALIGN_3_PRIME	chr18	TogoVar
SAMD12_chr8_118372984_118626963	118441980	A A	AATGAACA others(8): Show AATGAACAAGCCTCAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	186	0.0054	15	c.193 others(32): Show c.193-2034_193-2020dupCTGAGGCTTGTTCAT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3						chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469516	A A	AATATTAT others(8): Show AATATTATATTATTAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	159	0.0063	15	c.193 others(34): Show c.193-29556_193-29555insATAATAATATAATAT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3						chr8	TogoVar
SAMD13_chr1_84296708_84355798	84306830	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	77	0.0130	15	c.53+ others(30): Show c.53+3555_53+3569dupTAATAATAATAATAA		SAMD13	ENSG00000203943.9	transcript	ENST00000394834.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD14_chr17_50105040_50135160	50124771	G G	GCACCGCG others(8): Show GCACCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	69	0.0145	15	c.43+ others(28): Show c.43+145_43+146insTGTGCGCGCGCGGTG		SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding	2/9						chr17	TogoVar
SAMD4A_chr14_54562128_54798312	54675367	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01255.hp2 HG01517.hp1 others(11): Show HG01071.hp2 HG01255.hp2 HG01517.hp1 HG01978.hp1 HG02083.hp2 HG02155.hp1 HG02738.hp1 HG04184.hp2 HG04199.hp1 NA18947.hp2 NA18955.hp1 NA18963.hp2 NA18998.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0030 a0001c0001t0081 a0001c0002t0005	a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0081 others(11): Show a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0081 a0001c0001t0002g0131 a0001c0001t0002g0193 a0001c0001t0002g0239 a0001c0001t0004g0020 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0006g0163 a0001c0001t0008g0114 a0001c0001t0030g0072 a0001c0001t0081g0215 a0001c0002t0005g0115	14	84	0.1667	15	c.197 others(34): Show c.197-26689_197-26675dupAAAAAAAAAAAAAAA		SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	38	0.0263	15	c.197 others(34): Show c.197-23629_197-23628insGTGTGTGTGTGTGTG		SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12						chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724008	G G	GGAAGGAA others(8): Show GGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02258.hp2 HG02735.hp1 others(2): Show HG01074.hp1 HG02258.hp2 HG02735.hp1 NA18983.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0027	a0001c0001t0002g0199 a0001c0001t0003g0212 a0001c0001t0006g0211 others(2): Show a0001c0001t0002g0199 a0001c0001t0003g0212 a0001c0001t0006g0211 a0001c0001t0011g0160 a0001c0001t0027g0250	5	258	0.0194	15	c.716 others(34): Show c.716-13014_716-13000dupAAGGAAGGAAGGAAG		SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724008	G G	GGAAGGAA others(8): Show GGAAGGAAGGAAGGAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	254	0.0039	15	c.716 others(34): Show c.716-13002_716-13001insCGAAGGAAGGAAGGA		SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724008	G G	GGATGGAA others(8): Show GGATGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0157 a0001c0001t0011g0157	1	254	0.0039	15	c.716 others(34): Show c.716-13014_716-13013insTGGAAGGAAGGAAGA		SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54737561	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA19002.hp2 HG01928.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0046 a0001c0001t0012g0226 a0001c0001t0004g0046 a0001c0001t0012g0226	2	164	0.0122	15	c.979 others(30): Show c.979+274_979+275insTTTTTTTTTTTTTTG		SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	4/12						chr14	TogoVar
SAMD5_chr6_147503690_147575021	147517502	T T	TGATAAAT others(8): Show TGATAAATCAGTGGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(176): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp2 NA19070.hp1 NA19079.hp1 NA19080.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0004 a0004c0005 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(83): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0029 a0001c0001t0085 a0001c0001t0089 a0001c0001t0091 a0001c0001t0095 a0001c0001t0096 a0001c0001t0099 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0001t0113 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0064 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0068 a0001c0002t0069 a0001c0002t0070 a0001c0006t0015 a0001c0006t0053 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0018 a0002c0003t0031 a0002c0003t0032 a0002c0003t0033 a0002c0003t0073 a0003c0004t0001 a0003c0004t0016 a0003c0004t0020 a0003c0004t0077 a0003c0004t0093 a0003c0004t0107 a0003c0004t0110 a0004c0005t0012 a0004c0005t0029 a0004c0005t0034 a0005c0007t0011	a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0051 others(169): Show a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0060 a0001c0001t0009g0039 a0001c0001t0009g0053 a0001c0001t0009g0057 a0001c0001t0012g0033 a0001c0001t0012g0338 a0001c0001t0012g0344 a0001c0001t0017g0007 a0001c0001t0019g0040 a0001c0001t0019g0055 a0001c0001t0020g0152 a0001c0001t0021g0049 a0001c0001t0027g0036 a0001c0001t0029g0144 a0001c0001t0085g0061 a0001c0001t0089g0044 a0001c0001t0091g0034 a0001c0001t0095g0074 a0001c0001t0096g0054 a0001c0001t0099g0062 a0001c0001t0106g0058 a0001c0001t0108g0059 a0001c0001t0109g0037 a0001c0001t0113g0151 a0001c0002t0004g0001 a0001c0002t0004g0003 a0001c0002t0004g0073 a0001c0002t0004g0078 a0001c0002t0004g0083 a0001c0002t0004g0084 a0001c0002t0004g0089 a0001c0002t0004g0093 a0001c0002t0004g0100 a0001c0002t0004g0108 a0001c0002t0004g0109 a0001c0002t0004g0115 a0001c0002t0004g0119 a0001c0002t0004g0127 a0001c0002t0004g0129 a0001c0002t0004g0130 a0001c0002t0004g0148 a0001c0002t0004g0161 a0001c0002t0004g0168 a0001c0002t0004g0171 a0001c0002t0004g0176 a0001c0002t0007g0096 a0001c0002t0007g0099 a0001c0002t0007g0105 a0001c0002t0007g0114 a0001c0002t0007g0116 a0001c0002t0007g0122 a0001c0002t0007g0134 a0001c0002t0007g0147 a0001c0002t0007g0153 a0001c0002t0008g0110 a0001c0002t0008g0111 a0001c0002t0008g0138 a0001c0002t0008g0139 a0001c0002t0008g0150 a0001c0002t0008g0173 a0001c0002t0008g0174 a0001c0002t0008g0179 a0001c0002t0008g0180 a0001c0002t0008g0181 a0001c0002t0008g0340 a0001c0002t0008g0342 a0001c0002t0010g0097 a0001c0002t0010g0101 a0001c0002t0010g0113 a0001c0002t0010g0145 a0001c0002t0010g0163 a0001c0002t0010g0165 a0001c0002t0010g0170 a0001c0002t0010g0177 a0001c0002t0013g0106 a0001c0002t0013g0120 a0001c0002t0013g0123 a0001c0002t0013g0137 a0001c0002t0014g0003 a0001c0002t0014g0080 a0001c0002t0014g0102 a0001c0002t0014g0164 a0001c0002t0015g0166 a0001c0002t0015g0172 a0001c0002t0022g0086 a0001c0002t0022g0167 a0001c0002t0023g0082 a0001c0002t0023g0088 a0001c0002t0024g0112 a0001c0002t0024g0162 a0001c0002t0025g0085 a0001c0002t0025g0341 a0001c0002t0026g0087 a0001c0002t0026g0343 a0001c0002t0036g0132 a0001c0002t0037g0081 a0001c0002t0038g0149 a0001c0002t0039g0133 a0001c0002t0040g0136 a0001c0002t0041g0128 a0001c0002t0042g0131 a0001c0002t0044g0098 a0001c0002t0045g0091 a0001c0002t0046g0178 a0001c0002t0047g0118 a0001c0002t0048g0001 a0001c0002t0049g0117 a0001c0002t0050g0146 a0001c0002t0051g0104 a0001c0002t0052g0095 a0001c0002t0054g0154 a0001c0002t0055g0182 a0001c0002t0056g0092 a0001c0002t0057g0169 a0001c0002t0058g0126 a0001c0002t0059g0079 a0001c0002t0060g0124 a0001c0002t0061g0125 a0001c0002t0062g0121 a0001c0002t0064g0103 a0001c0002t0065g0135 a0001c0002t0066g0094 a0001c0002t0067g0175 a0001c0002t0068g0067 a0001c0002t0069g0107 a0001c0002t0070g0143 a0001c0006t0015g0140 a0001c0006t0015g0141 a0001c0006t0053g0142 a0002c0003t0001g0016 a0002c0003t0001g0021 a0002c0003t0001g0023 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0002g0017 a0002c0003t0002g0022 a0002c0003t0002g0026 a0002c0003t0002g0028 a0002c0003t0003g0024 a0002c0003t0003g0029 a0002c0003t0018g0004 a0002c0003t0018g0015 a0002c0003t0031g0018 a0002c0003t0031g0019 a0002c0003t0032g0027 a0002c0003t0032g0030 a0002c0003t0033g0025 a0002c0003t0073g0020 a0003c0004t0001g0068 a0003c0004t0016g0071 a0003c0004t0016g0072 a0003c0004t0020g0077 a0003c0004t0077g0076 a0003c0004t0093g0075 a0003c0004t0107g0069 a0003c0004t0110g0070 a0004c0005t0012g0048 a0004c0005t0029g0043 a0004c0005t0034g0046 a0004c0005t0034g0047 a0005c0007t0011g0090	179	362	0.4945	15	c.459 others(32): Show c.459+8118_459+8119insAAATCAGTGGTAGAT		SAMD5	ENSG00000203727.4	transcript	ENST00000367474.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr6	TogoVar
SAMD8_chr10_75106656_75187123	75109811	G G	GTGTTTTG others(8): Show GTGTTTTGTTTTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG03195.hp2 HG03225.hp2 others(3): Show HG00558.hp2 HG03195.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0061 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102	6	320	0.0188	15	c.-19 others(26): Show c.-1927_-1926insTGTTTTGTTTTGTTT		SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding					1844		chr10	TogoVar
SAMD8_chr10_75106656_75187123	75109818	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp2 others(83): Show HG00099.hp1 HG00280.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02698.hp2 HG03041.hp1 HG03516.hp1 HG03654.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18961.hp2 NA18966.hp2 NA18973.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19055.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0002c0008t0002	a0001c0001t0001g0099 a0001c0001t0002g0001 a0001c0001t0002g0112 others(78): Show a0001c0001t0001g0099 a0001c0001t0002g0001 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0006g0147 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0008g0219 a0001c0001t0008g0221 a0001c0001t0008g0223 a0001c0001t0018g0210 a0001c0001t0019g0114 a0001c0001t0021g0169 a0001c0001t0022g0222 a0001c0001t0028g0205 a0002c0008t0002g0201	86	232	0.3707	15	c.-19 others(26): Show c.-1920_-1919insTTTTGTTTTGTTTTG		SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding					1837		chr10	TogoVar
SAMD8_chr10_75106656_75187123	75123162	T T	TCACCCCA others(8): Show TCACCCCACCCCACCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02896.hp1 HG02897.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0003 a0001c0001t0001 a0001c0005t0003	a0001c0001t0001g0022 a0001c0005t0003g0217 a0001c0005t0003g0218 a0001c0001t0001g0022 a0001c0005t0003g0217 a0001c0005t0003g0218	3	67	0.0448	15	c.-16 others(34): Show c.-16+11476_-16+11490dupCACCCCACCCCACCC		SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMD8_chr10_75106656_75187123	75148346	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19043.hp1 HG02809.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0137 a0001c0001t0004g0134 a0001c0001t0004g0137	2	65	0.0308	15	c.-15 others(32): Show c.-15-2157_-15-2143dupTTTTTTTTTTTTTTT		SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMHD1_chr20_36885229_36956708	36890419	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0061 a0001c0001t0019g0061	1	334	0.0030	15	c.25 others(26): Show c.2512_*2513insGAAAGAAAGAAAGAA		SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16				2512		chr20	TogoVar
SAMM50_chr22_43950442_44001529	43962881	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0199 a0002c0001t0001g0199	1	131	0.0076	15	c.22- others(28): Show c.22-386_22-372dupTTTTTTTTTTTTTTT		SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMSN1_chr21_14480228_14551315	14481572	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03486.hp1 HG03130.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0188 a0001c0001t0001g0073 a0001c0001t0001g0188	2	23	0.0870	15	c.43 others(26): Show c.4339_*4340insTTTTTTTTTTTTTTT		SAMSN1	ENSG00000155307.19	transcript	ENST00000400566.6	protein_coding					3655		chr21	TogoVar
SAMSN1_chr21_14480228_14551315	14487889	C C	CATGGAAG others(8): Show CATGGAAGCATTTTGT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0318 a0001c0002t0001g0318	1	406	0.0025	15	c.920 others(32): Show c.920-1790_920-1776dupACAAAATGCTTCCAT		SAMSN1	ENSG00000155307.19	transcript	ENST00000400566.6	protein_coding	7/7						chr21	TogoVar
SANBR_chr2_61060871_61129280	61072821	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0324 a0001c0002t0001g0324	1	82	0.0122	15	c.338 others(30): Show c.338-622_338-608dupTTTTTTTTTTTTTTT		SANBR	ENSG00000162929.14	transcript	ENST00000402291.6	protein_coding	4/21					INFO_REALIGN_3_PRIME	chr2	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02165.hp2 HG02683.hp1 others(1): Show HG01993.hp1 HG02165.hp2 HG02683.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0043 others(1): Show a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0002t0001g0044	4	77	0.0519	15	c.870 others(32): Show c.870-3518_870-3504dupAAAAAAAAAAAAAAA		SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20						chr2	TogoVar
SAP130_chr2_127936222_128033059	128018483	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0094 a0001c0004t0001g0094	1	78	0.0128	15	c.113 others(30): Show c.113-583_113-569dupTTTTTTTTTTTTTTT		SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	2/20						chr2	TogoVar
SAR1A_chr10_70142289_70175514	70149547	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG03225.hp2 others(8): Show HG00741.hp2 HG01261.hp2 HG03225.hp2 NA18522.hp2 NA18940.hp1 NA18970.hp2 NA18991.hp1 NA18994.hp2 NA18999.hp2 NA19010.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0059 a0001c0001t0060 others(4): Show a0001c0001t0016 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0126 a0001c0001t0154	a0001c0001t0016g0010 a0001c0001t0016g0065 a0001c0001t0016g0066 others(6): Show a0001c0001t0016g0010 a0001c0001t0016g0065 a0001c0001t0016g0066 a0001c0001t0059g0067 a0001c0001t0060g0061 a0001c0001t0061g0060 a0001c0001t0062g0058 a0001c0001t0126g0180 a0001c0001t0154g0112	11	34	0.3235	15	c.29 others(26): Show c.2914_*2928dupAAAAAAAAAAAAAAA		SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7				2928		chr10	TogoVar
SAR1A_chr10_70142289_70175514	70151259	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0249 a0001c0001t0147g0249	1	17	0.0588	15	c.12 others(26): Show c.1202_*1216dupTTTTTTTTTTTTTTT		SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7				1216		chr10	TogoVar
SAR1B_chr5_134596149_134637828	134612641	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02258.hp1 NA18969.hp2 others(1): Show HG00621.hp2 HG02258.hp1 NA18969.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0216 a0001c0001t0001g0280 a0001c0001t0002g0224 others(1): Show a0001c0001t0001g0216 a0001c0001t0001g0280 a0001c0001t0002g0224 a0001c0001t0009g0015	4	14	0.2857	15	c.244 others(28): Show c.244+35_244+49dupTTTTTTTTTTTTTTT		SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	4/6						chr5	TogoVar
SARAF_chr8_30058003_30088064	30064559	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	88	0.0114	15	c.995 others(30): Show c.995-647_995-646insAAAAAAAAAAAAAAA		SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5						chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	13	0.0769	15	c.995 others(30): Show c.995-649_995-648insAAAAAAAAAAATATA		SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5						chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0194 a0001c0004t0001g0194	1	13	0.0769	15	c.995 others(30): Show c.995-649_995-648insAAAAAAAAAAAAATA		SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5						chr8	TogoVar
SARAF_chr8_30058003_30088064	30064562	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0070 a0001c0001t0012g0070	1	358	0.0028	15	c.995 others(30): Show c.995-650_995-649insTATATATATATATAT		SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5						chr8	TogoVar
SARDH_chr9_133658560_133743352	133668832	C C	CCCTCACC others(8): Show CCCTCACCTTCCCTCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0250 a0003c0009t0001g0250	1	216	0.0046	15	c.249 others(34): Show c.2495+1751_2495+1752insAGAGGGAAGGTGAGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133669010	C C	CCCTCACC others(8): Show CCCTCACCTTCCCTCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0002 a0002c0060t0002	a0002c0060t0002g0023 a0002c0060t0002g0023	1	247	0.0040	15	c.249 others(34): Show c.2495+1573_2495+1574insAGAGGGAAGGTGAGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133669010	C C	CCCTCTCC others(8): Show CCCTCTCCTTCCCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 NA20129.hp1 HG02109.hp1 NA18522.hp1 NA20129.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0036 a0001c0001 a0003c0003 a0007c0036	a0001c0001t0001 a0003c0003t0001 a0007c0036t0001 a0001c0001t0001 a0003c0003t0001 a0007c0036t0001	a0001c0001t0001g0256 a0003c0003t0001g0238 a0007c0036t0001g0058 a0001c0001t0001g0256 a0003c0003t0001g0238 a0007c0036t0001g0058	3	249	0.0120	15	c.249 others(34): Show c.2495+1573_2495+1574insAGAGGGAAGGAGAGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133669252	C C	CCCTTACC others(8): Show CCCTTACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0001 a0002c0053t0001	a0002c0053t0001g0031 a0002c0053t0001g0031	1	256	0.0039	15	c.249 others(34): Show c.2495+1331_2495+1332insAGAGGGAGGGTAAGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133669269	C C	CTCTCTCC others(8): Show CTCTCTCCTTCCCTCT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0095 a0002c0005t0002g0095	1	256	0.0039	15	c.249 others(34): Show c.2495+1314_2495+1315insAGAGGGAAGGAGAGA		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133726368	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03471.hp1 NA18747.hp1 others(2): Show HG01891.hp2 HG03471.hp1 NA18747.hp1 NA18960.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0064 a0002c0005 a0003c0028 others(2): Show a0001c0064 a0002c0005 a0003c0028 a0003c0029 a0007c0036	a0001c0064t0004 a0002c0005t0001 a0003c0028t0001 others(2): Show a0001c0064t0004 a0002c0005t0001 a0003c0028t0001 a0003c0029t0001 a0007c0036t0004	a0001c0064t0004g0057 a0002c0005t0001g0086 a0003c0028t0001g0087 others(2): Show a0001c0064t0004g0057 a0002c0005t0001g0086 a0003c0028t0001g0087 a0003c0029t0001g0091 a0007c0036t0004g0056	5	148	0.0338	15	c.915 others(32): Show c.915+3382_915+3396dupATTATTATTATTATT		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20						chr9	TogoVar

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