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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLX1B_chr16_29449533_29463219	29450757	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	121	0.0083	28	c.-39 others(39): Show c.-3986_-3985insATATATATATATATATATATATATATAT	SLX1B	ENSG00000181625.18	transcript	ENST00000330181.10	protein_coding		3775		chr16	TogoVar
SLX4IP_chr20_10430305_10633030	10444207	A A	AGGGGTGT others(21): Show AGGGGTGTCCTCAGGATAACCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00621.hp2 others(93): Show HG00323.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02056.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18951.hp1 NA18954.hp2 NA18965.hp2 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19060.hp2 NA19082.hp1 NA19082.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0008 a0001c0011 others(5): Show a0001c0001 a0001c0008 a0001c0011 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0056 a0001c0001t0058 a0001c0001t0061 a0001c0008t0007 a0001c0011t0010 a0002c0002t0005 a0002c0002t0032 a0003c0003t0007 a0003c0003t0019 a0004c0004t0027 a0004c0004t0054 a0005c0005t0017 a0006c0009t0028	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 others(93): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0035 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0251 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0003g0026 a0001c0001t0003g0217 a0001c0001t0003g0228 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0263 a0001c0001t0004g0001 a0001c0001t0004g0021 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0038 a0001c0001t0004g0258 a0001c0001t0004g0261 a0001c0001t0006g0013 a0001c0001t0006g0220 a0001c0001t0007g0230 a0001c0001t0007g0231 a0001c0001t0009g0203 a0001c0001t0011g0024 a0001c0001t0011g0034 a0001c0001t0011g0236 a0001c0001t0012g0238 a0001c0001t0012g0240 a0001c0001t0013g0227 a0001c0001t0014g0225 a0001c0001t0015g0002 a0001c0001t0015g0004 a0001c0001t0015g0011 a0001c0001t0015g0260 a0001c0001t0016g0040 a0001c0001t0018g0223 a0001c0001t0019g0022 a0001c0001t0020g0020 a0001c0001t0022g0221 a0001c0001t0022g0222 a0001c0001t0022g0229 a0001c0001t0023g0031 a0001c0001t0025g0245 a0001c0001t0025g0246 a0001c0001t0026g0219 a0001c0001t0028g0226 a0001c0001t0037g0239 a0001c0001t0040g0029 a0001c0001t0041g0039 a0001c0001t0047g0255 a0001c0001t0049g0030 a0001c0001t0051g0256 a0001c0001t0052g0206 a0001c0001t0053g0208 a0001c0001t0056g0218 a0001c0001t0058g0262 a0001c0001t0061g0023 a0001c0008t0007g0015 a0001c0011t0010g0224 a0002c0002t0005g0032 a0002c0002t0005g0036 a0002c0002t0005g0244 a0002c0002t0005g0250 a0002c0002t0032g0243 a0003c0003t0007g0009 a0003c0003t0019g0008 a0004c0004t0027g0042 a0004c0004t0054g0209 a0005c0005t0017g0242 a0005c0005t0017g0249 a0005c0005t0017g0254 a0006c0009t0028g0207	96	264	0.3636	28	c.-30 others(45): Show c.-30+8759_-30+8760insGTCCTCAGGATAACCCTTTCTTTGGGGT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMAD1_chr4_145476853_145564176	145477926	T T	TATGTACA others(21): Show TATGTACATGTATATACATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0047 a0001c0001t0005g0047	1	273	0.0037	28	c.-42 others(39): Show c.-4289_-4288insATGTACATGTATATACATATATATACAC	SMAD1	ENSG00000170365.10	transcript	ENST00000302085.9	protein_coding		3926		chr4	TogoVar
SMAD1_chr4_145476853_145564176	145477954	C C	CACATGTA others(21): Show CACATGTACATATGTATATACATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02040.hp1 HG02132.hp1 others(12): Show HG00438.hp1 HG02040.hp1 HG02132.hp1 HG02145.hp1 HG02486.hp2 HG03130.hp2 HG03471.hp2 HG03516.hp1 HG06807.hp2 NA18964.hp2 NA18979.hp2 NA18988.hp1 NA19010.hp2 NA19090.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0012 a0001c0001t0005 a0001c0002t0012	a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0027 others(12): Show a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0039 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0002t0012g0052	15	299	0.0502	28	c.-42 others(39): Show c.-4261_-4260insACATGTACATATGTATATACATATATAT	SMAD1	ENSG00000170365.10	transcript	ENST00000302085.9	protein_coding		3898		chr4	TogoVar
SMAD2_chr18_47803957_47935659	47850506	A A	ATATATAA others(21): Show ATATATAACATATAATGTATAATATATGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19060.hp2 HG01069.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0136 a0001c0001t0089 a0001c0001t0136	a0001c0001t0089g0243 a0001c0001t0136g0206 a0001c0001t0089g0243 a0001c0001t0136g0206	2	302	0.0066	28	c.784 others(43): Show c.784+767_784+768insACATATATTATACATTATATGTTATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG04115.hp1 NA19057.hp1 others(1): Show HG02074.hp1 HG04115.hp1 NA19057.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0019 a0001c0001t0091 others(1): Show a0001c0001t0016 a0001c0001t0019 a0001c0001t0091 a0001c0001t0121	a0001c0001t0016g0292 a0001c0001t0019g0116 a0001c0001t0091g0297 others(1): Show a0001c0001t0016g0292 a0001c0001t0019g0116 a0001c0001t0091g0297 a0001c0001t0121g0225	4	43	0.0930	28	c.237 others(47): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67183031	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0232 a0001c0001t0007g0232	1	125	0.0080	28	c.871 others(45): Show c.871+1579_871+1580insATATATATATATATATATATATATTTTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67183031	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0210 a0001c0001t0007g0210	1	125	0.0080	28	c.871 others(45): Show c.871+1579_871+1580insATATATATATATATATATATATTTTTTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD9_chr13_36839831_36925238	36893389	C C	CATATATA others(21): Show CATATATATATATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0237 a0001c0001t0011g0237	1	356	0.0028	28	c.-18 others(49): Show c.-186-13515_-186-13514insATATATATTTATATATATATATAT ATAT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMARCA4_chr19_10956030_11067273	11061202	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	195	0.0051	28	c.491 others(45): Show c.4912-581_4912-580insTATATATATATATATATATATATATATA	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCC1_chr3_47580269_47786893	47749670	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18970.hp2 HG02451.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0179 a0001c0002t0002g0102 a0001c0001t0002g0179 a0001c0002t0002g0102	2	29	0.0690	28	c.316 others(45): Show c.316-3678_316-3677insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG01884.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0131 a0001c0001t0001g0112 a0001c0001t0001g0131	2	11	0.1818	28	c.242 others(45): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC2_chr9_104089309_104146419	104126849	A A	AGATGTTT others(21): Show AGATGTTTGACTTTAGTGTTCTCAGTCTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0037 a0001c0003t0003g0037	1	276	0.0036	28	c.259 others(43): Show c.2595+66_2595+93dupGATGTTTGACTTTAGTGTTCTCAGTCTT	SMC2	ENSG00000136824.19	transcript	ENST00000374793.8	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC6_chr2_17658812_17758810	17726087	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	71	0.0141	28	c.624 others(43): Show c.624+301_624+302insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	8/27			chr2	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(21): Show TATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0003 a0013c0019t0003	a0013c0019t0003g0074 a0013c0019t0003g0074	1	66	0.0152	28	c.226 others(45): Show c.2260+988_2260+989insTATATATATATATATATATATATAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03579.hp2 NA18979.hp1 others(1): Show HG02273.hp2 HG03579.hp2 NA18979.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0001 a0001c0004t0003 a0002c0006t0001 a0001c0004t0001 a0001c0004t0003 a0002c0006t0001	a0001c0004t0001g0115 a0001c0004t0001g0155 a0001c0004t0003g0089 others(1): Show a0001c0004t0001g0115 a0001c0004t0001g0155 a0001c0004t0003g0089 a0002c0006t0001g0125	4	69	0.0580	28	c.226 others(45): Show c.2260+988_2260+989insTATATATATATATATATATATATATAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2709232	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18962.hp2 HG01978.hp1 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0167 a0001c0002t0002g0172 a0001c0002t0002g0167 a0001c0002t0002g0172	2	254	0.0079	28	c.226 others(47): Show c.2260+1313_2260+1314insGTATATATATATATATATATATATAT AT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2709232	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	253	0.0040	28	c.226 others(47): Show c.2260+1313_2260+1314insGTGTATATATATATATATATATATAT AT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMG1_chr16_18799860_18931408	18844570	T T	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG03491.hp2 HG00741.hp2 HG01081.hp1 HG03491.hp2	a0001 a0001	a0001c0007 a0001c0010 a0001c0007 a0001c0010	a0001c0007t0003 a0001c0010t0003 a0001c0007t0003 a0001c0010t0003	a0001c0007t0003g0213 a0001c0007t0003g0214 a0001c0010t0003g0180 a0001c0007t0003g0213 a0001c0007t0003g0214 a0001c0010t0003g0180	3	142	0.0211	28	c.621 others(45): Show c.6219+858_6219+859insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG6_chr17_2054843_2308785	2114959	T T	TAAAATAA others(21): Show TAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03490.hp2 HG03492.hp2 others(3): Show HG01074.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp1 HG04204.hp2 NA20300.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0003 a0005c0006 a0002c0002 a0003c0003 a0005c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0003c0003t0001 a0005c0006t0004	a0002c0002t0001g0032 a0002c0002t0001g0050 a0002c0002t0002g0042 others(3): Show a0002c0002t0001g0032 a0002c0002t0001g0050 a0002c0002t0002g0042 a0002c0002t0005g0036 a0003c0003t0001g0167 a0005c0006t0004g0027	6	99	0.0606	28	c.335 others(49): Show c.3358-29059_3358-29058insTTTATTTTATTTTATTTTATTTTA TTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	87	0.0115	28	c.335 others(49): Show c.3357+42391_3357+42392insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG7_chr1_183467499_183559191	183477419	T T	TGTGCATA others(21): Show TGTGCATATGTGTATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0057 a0002c0002t0002g0057	1	358	0.0028	28	c.29+ others(43): Show c.29+4770_29+4771insGTGCATATGTGTATATATACATATATAC	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22			chr1	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(21): Show TATATATATATATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02486.hp2 HG03579.hp2 HG00323.hp1 HG02486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0026 a0001c0001t0003 a0001c0001t0008 a0001c0001t0026	a0001c0001t0003g0023 a0001c0001t0008g0019 a0001c0001t0026g0099 a0001c0001t0003g0023 a0001c0001t0008g0019 a0001c0001t0026g0099	3	75	0.0400	28	c.67 others(39): Show c.6765_*6766insGTGTGTGTGTGTATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(21): Show TATATATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 NA20300.hp2 HG03041.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0080 a0001c0001t0003g0023 a0001c0001t0003g0080	2	74	0.0270	28	c.67 others(39): Show c.6765_*6766insGTGTGTGTGTATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0201 a0001c0001t0060g0201	1	73	0.0137	28	c.67 others(39): Show c.6765_*6766insGTGTGTGTATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43752902	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0068 a0001c0001t0029g0068	1	198	0.0051	28	c.-7+ others(43): Show c.-7+1751_-7+1752insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	1/13			chr19	TogoVar
SMIM14_chr4_39541336_39643865	39619408	C C	CTATATAT others(21): Show CTATATATCAATAAATATAATTTATTCTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	332	0.0030	28	c.-35 others(47): Show c.-35-14229_-35-14228insTAGAATAAATTATATTTATTGATATA TA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39619728	T T	TTATATAT others(21): Show TTATATATATCAATAAATATAATTTATTA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0267 a0001c0001t0004g0267	1	342	0.0029	28	c.-35 others(47): Show c.-35-14576_-35-14549dupTAATAAATTATATTTATTGATATATA TA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39619860	T T	TTATGTAT others(21): Show TTATGTATATATATATTTATATATATTTA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0110 a0001c0001t0010g0110	1	220	0.0045	28	c.-35 others(47): Show c.-35-14681_-35-14680insTAAATATATATAAATATATATATACA TA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM1_chr1_3767749_3780956	3774065	T T	TGGGGCCT others(21): Show TGGGGCCTGAGTTTCTGAGCTGGCTTCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp1 HG02922.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	418	0.0048	28	c.-76 others(43): Show c.-76+911_-76+912insCGGGGCCTGAGTTTCTGAGCTGGCTTCT	SMIM1	ENSG00000235169.11	transcript	ENST00000642557.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM24_chr19_3468986_3485525	3484148	G G	GCCTCCTG others(21): Show GCCTCCTGCGCCCGGCCTGGTCTTTCTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	420	0.0024	28	c.-36 others(39): Show c.-3686_-3685insTAAGAAAGACCAGGCCGGGCGCAGGAGG	SMIM24	ENSG00000095932.7	transcript	ENST00000215531.6	protein_coding		3624		chr19	TogoVar
SMIM2_chr13_44138150_44166257	44163631	T T	TAGATAGA others(21): Show TAGATAGATAGATAGATAGATAGATAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00733.hp2 HG02155.hp2 others(6): Show HG00323.hp1 HG00733.hp2 HG02155.hp2 HG02965.hp2 HG03017.hp2 HG03710.hp1 NA18944.hp2 NA18950.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0069 a0001c0001t0002g0034 a0001c0001t0003g0006 a0001c0001t0003g0021 a0001c0001t0003g0042	9	42	0.2143	28	c.-25 others(39): Show c.-2564_-2563insGTCTATCTATCTATCTATCTATCTATCT	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		2375		chr13	TogoVar
SMIM36_chr17_55444856_55516452	55448034	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	153	0.0065	28	c.27 others(39): Show c.2795_*2796insTATATATATATATATATATATATATAAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding		1821		chr17	TogoVar
SMIM45_chr22_41947150_41963939	41958483	G G	GGAGAGAG others(21): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 NA19043.hp2 HG00639.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0010 a0001c0001t0013g0010	2	181	0.0110	28	c.61 others(37): Show c.616_*617insAGAGAGAGAGAGAGAGAGAGAGAGAGAG	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	2/2	617	INFO_REALIGN_3_PRIME	chr22	TogoVar
SMOC2_chr6_168436184_168672992	168614718	A A	AGCCTCTT others(21): Show AGCCTCTTCACACCTACAGCCAGCACAGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 NA18945.hp1 others(2): Show HG02896.hp2 HG02897.hp1 NA18945.hp1 NA18945.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0001t0001 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0089 a0001c0001t0001g0178 a0001c0001t0001g0179 others(2): Show a0001c0001t0001g0089 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0004g0129 a0001c0002t0002g0015	5	97	0.0515	28	c.907 others(45): Show c.907+6545_907+6572dupCACCTACAGCCAGCACAGGGCCTCTTCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168615661	G G	GGGCCTCT others(21): Show GGGCCTCTTCACACCTACAGCCAGCACAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0163 a0001c0001t0015g0163	1	178	0.0056	28	c.907 others(45): Show c.907+7424_907+7425insCCTCTTCACACCTACAGCCAGCACATGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168615662	G G	GGGGCCTC others(21): Show GGGGCCTCTTCATACCTACAGCCAGCACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02056.hp2 HG02083.hp2 others(8): Show HG01261.hp1 HG02056.hp2 HG02083.hp2 HG02602.hp1 HG02976.hp1 HG03834.hp1 HG06807.hp1 NA18944.hp1 NA18950.hp2 NA18983.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0013 a0001c0001t0001 a0001c0002t0002 a0001c0002t0013	a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0095 others(8): Show a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0002t0002g0017 a0001c0002t0002g0022 a0001c0002t0002g0034 a0001c0002t0002g0067 a0001c0002t0013g0062	11	172	0.0640	28	c.907 others(45): Show c.907+7434_907+7435insTACCTACAGCCAGCACAGGGCCTCTTCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPD2_chr6_109435724_109448919	109448097	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG00733.hp2 others(36): Show HG00609.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp2 HG01891.hp1 HG01934.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02109.hp2 HG02165.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02896.hp2 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03654.hp1 HG03654.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 NA18962.hp1 NA19006.hp1 NA19064.hp2 NA19083.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0002c0001 others(2): Show a0001c0002 a0001c0004 a0002c0001 a0003c0003 a0004c0005	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0003 a0002c0001t0001 a0003c0003t0002 a0004c0005t0001	a0001c0002t0001g0003 a0001c0002t0002g0002 a0001c0004t0001g0003 others(4): Show a0001c0002t0001g0003 a0001c0002t0002g0002 a0001c0004t0001g0003 a0001c0004t0003g0003 a0002c0001t0001g0001 a0003c0003t0002g0001 a0004c0005t0001g0003	39	213	0.1831	28	c.41 others(39): Show c.4192_*4193insACACACACACACACACACACACACACAC	SMPD2	ENSG00000135587.9	transcript	ENST00000258052.8	protein_coding		4179		chr6	TogoVar
SMPDL3A_chr6_122784258_122814720	122808605	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	278	0.0036	28	c.104 others(45): Show c.1045-483_1045-482insTCCTTCCTTCCTTCCTTCCTTCCTTCCT	SMPDL3A	ENSG00000172594.13	transcript	ENST00000368440.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPX_chrX_21700978_21763116	21731420	C C	CACACATA others(21): Show CACACATATATGTGTGTATGTGTACACAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	287	0.0035	28	c.14 others(45): Show c.14+6101_*14+6128dupATGTGTACACATACACACATATATGTGT	SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4			chrX	TogoVar
SMR3B_chr4_70378131_70395244	70391020	C C	CACACACA others(21): Show CACACACACACACACACACATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	280	0.0036	28	c.11 others(39): Show c.1172_*1173insACACACACACACACACACATATACACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		777		chr4	TogoVar
SMR3B_chr4_70378131_70395244	70391020	C C	CACACACA others(21): Show CACACACACACACACACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01884.hp1 HG02717.hp1 others(8): Show HG01192.hp1 HG01884.hp1 HG02717.hp1 HG02922.hp2 HG03041.hp1 HG03225.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0037 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0008g0026	11	290	0.0379	28	c.11 others(39): Show c.1172_*1173insACACACACACACACACATATATACACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		777		chr4	TogoVar
SMS_chrX_21935709_21999837	21944544	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00438.hp2 HG00544.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0235 a0002c0004t0001g0231 a0001c0001t0001g0235 a0002c0004t0001g0231	2	248	0.0081	28	c.49+ others(43): Show c.49+3672_49+3673insAAAAAAAAAAAAAAAAAAAAAGAAAAGA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMU1_chr9_33036765_33081674	33039536	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02083.hp1 HG02683.hp2 others(4): Show HG00280.hp2 HG02083.hp1 HG02683.hp2 HG02717.hp1 NA19010.hp2 NA19011.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0002 a0001c0001t0005 a0001c0003t0071 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0071 a0002c0006t0002	a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0002g0105 others(4): Show a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0005g0310 a0001c0001t0005g0312 a0001c0003t0071g0273 a0002c0006t0002g0247	7	307	0.0228	28	c.77 others(39): Show c.7756_*7757insATATATATATATATATATATATATATAT	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding		2228		chr9	TogoVar
SMUG1_chr12_54175366_54193985	54193401	A A	AGGCAGCA others(21): Show AGGCAGCACAACCTAGCTTTATGGATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	436	0.0023	28	c.-45 others(39): Show c.-4555_-4554insATAATCCATAAAGCTAGGTTGTGCTGCC	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding		4417		chr12	TogoVar
SMURF2_chr17_64537282_64667307	64566561	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG03492.hp2 HG01069.hp1 HG01069.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0007 a0002c0004t0001 a0001c0001t0001 a0001c0001t0007 a0002c0004t0001	a0001c0001t0001g0090 a0001c0001t0007g0017 a0002c0004t0001g0101 a0001c0001t0001g0090 a0001c0001t0007g0017 a0002c0004t0001g0101	3	44	0.0682	28	c.101 others(47): Show c.1017-3623_1017-3596dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	10/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64605744	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0133 a0001c0001t0002g0114 a0001c0001t0002g0133	2	39	0.0513	28	c.91+ others(41): Show c.91+830_91+857dupATATATATATATATATATATATATATAT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	2/18			chr17	TogoVar
SMYD2_chr1_214276159_214342131	214299465	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18955.hp1 NA18975.hp2 HG02040.hp2 NA18955.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0228 a0001c0001t0001g0247 a0001c0001t0001g0248	3	234	0.0128	28	c.174 others(45): Show c.174-5704_174-5703insTATATATATATATATATATATATATATA	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245765077	C C	CACACACA others(21): Show CACACACACACAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03471.hp1 HG02965.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0001 a0002c0003t0001 a0001c0006t0001 a0002c0003t0001	a0001c0006t0001g0081 a0002c0003t0001g0127 a0001c0006t0001g0081 a0002c0003t0001g0127	2	138	0.0145	28	c.107 others(45): Show c.1077-929_1077-928insTTTTTTTTTTTTTTTTTTGTGTGTGTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245833073	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAACACAAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp2 HG00544.hp1 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0092 a0001c0002t0002g0041 a0001c0001t0001g0092 a0001c0002t0002g0041	2	71	0.0282	28	c.107 others(49): Show c.1076+25422_1076+25423insGTTGTGTTTTTTTTTTTTTTTTTT TTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar

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