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
SMARCC1_chr3_47580269_47786893	47747440	A A	AAAATATA others(17): Show AAAATATAAATATAAATATAAATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG00639.hp2 others(28): Show HG00280.hp1 HG00597.hp2 HG00639.hp2 HG00741.hp2 HG01123.hp1 HG01255.hp2 HG01891.hp1 HG01943.hp2 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02280.hp1 HG02922.hp1 HG02970.hp2 HG03834.hp2 HG03942.hp2 NA18747.hp1 NA18967.hp1 NA18970.hp2 NA18998.hp1 NA19007.hp2 NA19012.hp1 NA19065.hp2 NA19079.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0008 a0001c0001 a0001c0002 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0002t0002 a0006c0008t0002	a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0067 others(28): Show a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0214 a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0108 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0177 a0001c0001t0007g0210 a0001c0001t0008g0205 a0001c0002t0002g0102 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0155 a0006c0008t0002g0086	31	48	0.6458	24	c.316 others(41): Show c.316-1471_316-1448dupATATTTATATTTATATTTATATTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47749670	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00597.hp1 others(56): Show HG00099.hp1 HG00280.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp2 HG01884.hp2 HG01943.hp2 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02083.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02970.hp2 HG03239.hp1 HG03491.hp1 HG03688.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA18941.hp2 NA18942.hp1 NA18952.hp1 NA18955.hp1 NA18967.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18997.hp2 NA18999.hp2 NA19005.hp2 NA19012.hp1 NA19030.hp2 NA19065.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014	a0001c0001t0001g0100 a0001c0001t0001g0128 a0001c0001t0001g0181 others(56): Show a0001c0001t0001g0100 a0001c0001t0001g0128 a0001c0001t0001g0181 a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0012g0136 a0001c0002t0002g0085 a0001c0002t0002g0091 a0001c0002t0002g0101 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0141 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0155 a0001c0002t0002g0160 a0001c0002t0002g0170 a0001c0002t0010g0104 a0001c0002t0013g0151 a0001c0002t0014g0219	59	86	0.6860	24	c.316 others(41): Show c.316-3678_316-3677insGTGTGTGTGTGTGTGTGTGTGTGT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMARCD1_chr12_50080342_50105707	50086479	T T	TTGGTGGT others(17): Show TTGGTGGTGGTAGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03688.hp2 NA21309.hp2 HG02965.hp1 HG03688.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0094 a0001c0001t0001g0143 a0001c0001t0001g0144	3	109	0.0275	24	c.366 others(39): Show c.366-132_366-131insAGTGGTGGTGGTGGTGGTGGTGGT	SMARCD1	ENSG00000066117.15	transcript	ENST00000394963.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMARCD1_chr12_50080342_50105707	50086479	T T	TTGGTGGT others(17): Show TTGGTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG03209.hp2 HG02486.hp2 HG02559.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0034 a0001c0001t0006g0034 a0001c0001t0001g0034 a0001c0001t0006g0034	3	109	0.0275	24	c.366 others(39): Show c.366-120_366-119insGGTGGTGGTGGTGGTGGTGGTGGT	SMARCD1	ENSG00000066117.15	transcript	ENST00000394963.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02615.hp2 HG02647.hp1 others(7): Show HG00673.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG03516.hp1 HG03516.hp2 NA18966.hp1 NA19043.hp1 NA19062.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0051 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0004g0099 a0001c0001t0006g0130	10	19	0.5263	24	c.242 others(41): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	72	0.0139	24	c.125 others(41): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMC4_chr3_160394650_160439953	160409265	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0055 a0001c0001t0006g0055	1	126	0.0079	24	c.688 others(41): Show c.688-2651_688-2628dupAAAAAAAAAAAAAAAAAAAAAAAA	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMC5_chr9_70253978_70359873	70258992	C C	CGGGGCGC others(17): Show CGGGGCGCCTGGGTGGATGGGCGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0059 a0002c0002t0010g0059	1	364	0.0027	24	c.-86 others(31): Show c.-86_-63dupGGGGCGCCTGGGTGGATGGGCGCT	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	1/25	62	INFO_REALIGN_3_PRIME	chr9	TogoVar
SMCHD1_chr18_2650726_2810017	2684700	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0099 a0003c0003t0003g0099	1	38	0.0263	24	c.639 others(41): Show c.639-3684_639-3661dupTGTGTGTGTGTGTGTGTGTGTGTG	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708867	C C	CATATATA others(17): Show CATATATATATATGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0016 a0001c0012t0016	a0001c0012t0016g0021 a0001c0012t0016g0021	1	275	0.0036	24	c.226 others(41): Show c.2260+959_2260+960insGTGTATATATATATATATATATAT	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(17): Show TATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0101 a0003c0003t0003g0101	1	66	0.0152	24	c.226 others(41): Show c.2260+988_2260+989insTATATATATATATATATATAAAAA	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(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG01243.hp1 others(18): Show HG00323.hp1 HG00423.hp2 HG01243.hp1 HG01952.hp2 HG01975.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02572.hp1 HG03486.hp1 HG04228.hp2 NA18941.hp2 NA18949.hp1 NA18952.hp1 NA18957.hp2 NA18965.hp1 NA18986.hp2 NA19002.hp1 NA19067.hp2 NA19081.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0001c0004 a0001c0005 others(7): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0030 a0002c0001 a0002c0006 a0003c0003 a0006c0017	a0001c0002t0001 a0001c0004t0001 a0001c0005t0002 others(9): Show a0001c0002t0001 a0001c0004t0001 a0001c0005t0002 a0001c0005t0013 a0001c0007t0007 a0001c0009t0002 a0001c0030t0001 a0002c0001t0002 a0002c0001t0006 a0002c0006t0001 a0003c0003t0003 a0006c0017t0013	a0001c0002t0001g0333 a0001c0004t0001g0038 a0001c0004t0001g0057 others(18): Show a0001c0002t0001g0333 a0001c0004t0001g0038 a0001c0004t0001g0057 a0001c0004t0001g0064 a0001c0004t0001g0112 a0001c0004t0001g0156 a0001c0005t0002g0257 a0001c0005t0013g0314 a0001c0007t0007g0231 a0001c0009t0002g0254 a0001c0009t0002g0262 a0001c0030t0001g0069 a0002c0001t0002g0312 a0002c0001t0002g0313 a0002c0001t0002g0322 a0002c0001t0006g0218 a0002c0006t0001g0123 a0002c0006t0001g0130 a0003c0003t0003g0061 a0003c0003t0003g0143 a0006c0017t0013g0324	21	86	0.2442	24	c.226 others(41): Show c.2260+988_2260+989insTATATATATATATATATATATAAA	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(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01168.hp1 others(9): Show HG00738.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01258.hp2 HG01433.hp2 HG01943.hp2 HG01978.hp2 HG02148.hp2 HG03239.hp2 HG03704.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0032 a0001c0002t0001 a0001c0002t0032	a0001c0002t0001g0162 a0001c0002t0001g0183 a0001c0002t0001g0185 others(9): Show a0001c0002t0001g0162 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0195 a0001c0002t0001g0204 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0032g0181	12	264	0.0455	24	c.226 others(43): Show c.2260+1313_2260+1314insGTATATATATATATATATATATAT	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(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02683.hp1 HG03491.hp2 HG00733.hp2 HG02683.hp1 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0037 a0001c0002t0001g0177 a0001c0002t0001g0180	3	255	0.0118	24	c.226 others(43): Show c.2260+1313_2260+1314insGTGTATATATATATATATATATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2748378	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0247 a0001c0005t0004g0247	1	268	0.0037	24	c.392 others(41): Show c.3927+736_3927+737insGTGTGTGTGTGTGTGTGTATGTGT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	30/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMG1_chr16_18799860_18931408	18844570	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG01175.hp1 others(9): Show HG00423.hp1 HG00544.hp1 HG01175.hp1 HG01515.hp1 HG01975.hp1 HG02056.hp2 HG02602.hp1 HG03098.hp1 HG03540.hp2 NA18993.hp1 NA19043.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0016 a0001c0025 others(1): Show a0001c0007 a0001c0016 a0001c0025 a0002c0005	a0001c0007t0003 a0001c0007t0023 a0001c0016t0003 others(2): Show a0001c0007t0003 a0001c0007t0023 a0001c0016t0003 a0001c0025t0003 a0002c0005t0003	a0001c0007t0003g0175 a0001c0007t0003g0187 a0001c0007t0003g0209 others(9): Show a0001c0007t0003g0175 a0001c0007t0003g0187 a0001c0007t0003g0209 a0001c0007t0003g0210 a0001c0007t0023g0027 a0001c0016t0003g0190 a0001c0016t0003g0191 a0001c0025t0003g0189 a0002c0005t0003g0176 a0002c0005t0003g0177 a0002c0005t0003g0193 a0002c0005t0003g0208	12	151	0.0795	24	c.621 others(41): Show c.6219+858_6219+859insTGTGTGTGTGTGTGTGTGTGTGTG	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18914999	G G	GTGCAATG others(17): Show GTGCAATGGCATCATCTCCACTCAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp2 others(21): Show HG00423.hp1 HG00544.hp1 HG00558.hp2 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01361.hp1 HG01993.hp2 HG02083.hp1 HG02135.hp2 HG03490.hp2 HG03492.hp1 HG04184.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18945.hp1 NA18962.hp2 NA18969.hp2 NA18973.hp1 NA18990.hp1 NA18993.hp1 NA19009.hp2 NA19077.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0006 a0003c0017 a0002c0005 a0003c0006 a0003c0017	a0002c0005t0003 a0003c0006t0003 a0003c0017t0003 a0002c0005t0003 a0003c0006t0003 a0003c0017t0003	a0002c0005t0003g0176 a0002c0005t0003g0182 a0002c0005t0003g0184 others(21): Show a0002c0005t0003g0176 a0002c0005t0003g0182 a0002c0005t0003g0184 a0002c0005t0003g0185 a0002c0005t0003g0186 a0002c0005t0003g0193 a0002c0005t0003g0194 a0002c0005t0003g0195 a0002c0005t0003g0197 a0002c0005t0003g0208 a0002c0005t0003g0211 a0003c0006t0003g0181 a0003c0006t0003g0183 a0003c0006t0003g0192 a0003c0006t0003g0196 a0003c0006t0003g0198 a0003c0006t0003g0199 a0003c0006t0003g0200 a0003c0006t0003g0201 a0003c0006t0003g0202 a0003c0006t0003g0203 a0003c0006t0003g0207 a0003c0006t0003g0212 a0003c0017t0003g0204	24	298	0.0805	24	c.92+ others(41): Show c.92+10927_92+10950dupGTGAGTGGAGATGATGCCATTGCA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	1/62			chr16	TogoVar
SMG6_chr17_2054843_2308785	2066652	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0180 a0003c0003t0002g0180	1	6	0.1667	24	c.383 others(41): Show c.3836-997_3836-974dupGTGTGTGTGTGTGTGTGTGTGTGT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	16/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	87	0.0115	24	c.335 others(45): Show c.3357+42391_3357+42392insTTTTTTTTTTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(17): Show TATATATATATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	73	0.0137	24	c.67 others(35): Show c.6765_*6766insGTGTGTGTGTGTGTATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(17): Show TATATATATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG03139.hp1 others(1): Show HG01243.hp1 HG02572.hp1 HG03139.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0023 a0001c0001t0002 a0001c0001t0008 a0001c0001t0023	a0001c0001t0002g0040 a0001c0001t0008g0193 a0001c0001t0023g0025 a0001c0001t0002g0040 a0001c0001t0008g0193 a0001c0001t0023g0025	4	76	0.0526	24	c.67 others(35): Show c.6765_*6766insGTGTGTGTGTGTATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(17): Show TATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	73	0.0137	24	c.67 others(35): Show c.6765_*6766insGTGTGTGTGTATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(17): Show TATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA19060.hp2 NA18979.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0009 a0001c0001t0002g0011	2	74	0.0270	24	c.67 others(35): Show c.6765_*6766insGTGTGTGTATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA19064.hp2 NA19074.hp2 NA18964.hp2 NA19064.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0160 a0001c0001t0002g0062 a0001c0001t0001g0001 a0001c0001t0001g0160 a0001c0001t0002g0062	3	75	0.0400	24	c.67 others(35): Show c.6765_*6766insGTGTGTATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43752902	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01884.hp2 others(13): Show HG00408.hp1 HG00558.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp2 HG02083.hp2 HG02572.hp1 HG02723.hp1 HG03041.hp2 HG03209.hp1 NA18941.hp2 NA18948.hp1 NA18965.hp1 NA18979.hp1 NA18982.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0030 a0003c0005t0037	a0001c0001t0002g0009 a0001c0001t0002g0038 a0001c0001t0002g0040 others(10): Show a0001c0001t0002g0009 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0069 a0001c0001t0003g0039 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0009g0042 a0001c0001t0017g0034 a0001c0001t0018g0085 a0001c0001t0030g0043 a0003c0005t0037g0084	16	213	0.0751	24	c.-7+ others(39): Show c.-7+1751_-7+1752insTTTTTTTTTTTTTTTTTTTTTTTT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	1/13			chr19	TogoVar
SMIM14_chr4_39541336_39643865	39576660	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18961.hp2 HG00544.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0246 a0001c0001t0002g0004 a0001c0001t0002g0246	2	64	0.0313	24	c.76- others(39): Show c.76-4198_76-4197insTATATATATATATATATATACACA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39584481	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp2 HG02165.hp1 others(1): Show HG00642.hp1 HG01071.hp2 HG02165.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0001 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0289 a0001c0001t0001g0309 a0001c0001t0004g0195 others(1): Show a0001c0001t0001g0289 a0001c0001t0001g0309 a0001c0001t0004g0195 a0001c0001t0013g0003	4	39	0.1026	24	c.76- others(41): Show c.76-12042_76-12019dupTTTTTTTTTTTTTTTTTTTTTTTT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39619384	A A	ATATATCA others(17): Show ATATATCAATAAATATAATTTATTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01255.hp2 HG02647.hp2 others(1): Show HG01169.hp1 HG01255.hp2 HG02647.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0035	a0001c0001t0001g0285 a0001c0001t0003g0008 a0001c0001t0019g0009 others(1): Show a0001c0001t0001g0285 a0001c0001t0003g0008 a0001c0001t0019g0009 a0001c0001t0035g0308	4	340	0.0118	24	c.-35 others(43): Show c.-35-14228_-35-14205dupGAATAAATTATATTTATTGATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39619552	C C	CTATATAT others(17): Show CTATATATCAATAAATATAATTTAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03579.hp2 HG02145.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0197 a0001c0001t0001g0198	2	338	0.0059	24	c.-35 others(43): Show c.-35-14396_-35-14373dupATAAATTATATTTATTGATATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56658693	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0079 a0001c0001t0006g0079	1	273	0.0037	24	c.34 others(35): Show c.3480_*3481insAAAAAAAAAAAAAAAAAAAAGAAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		1447		chr19	TogoVar
SMIM2_chr13_44138150_44166257	44163631	T T	TAGATAGA others(17): Show TAGATAGATAGATAGATAGATAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00609.hp1 others(75): Show HG00099.hp2 HG00140.hp1 HG00609.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG02055.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02922.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18975.hp2 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19080.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0002g0010 a0001c0001t0003g0006 a0001c0001t0003g0042 a0001c0001t0003g0057 a0001c0001t0003g0066 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0100 a0001c0001t0003g0137 a0001c0001t0007g0105	78	111	0.7027	24	c.-25 others(35): Show c.-2564_-2563insGTCTATCTATCTATCTATCTATCT	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		2375		chr13	TogoVar
SMIM35_chr11_117998634_118091963	118045330	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19002.hp1 NA18959.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0021 a0002c0002t0005g0318 a0001c0001t0001g0021 a0002c0002t0005g0318	2	114	0.0175	24	c.8-2 others(39): Show c.8-29545_8-29522dupTGTGTGTGTGTGTGTGTGTGTGTG	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118051825	G G	GATACTAA others(17): Show GATACTAATACTAATACTAATACTA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03579.hp1 NA20129.hp1 HG01975.hp2 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0009g0369 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0009g0369	3	180	0.0167	24	c.7+3 others(39): Show c.7+34902_7+34925dupTAGTATTAGTATTAGTATTAGTAT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM44_chr19_3477110_3488441	3486240	A A	AGATTCTC others(17): Show AGATTCTCTCTCTTTTCCTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	24	c.-28 others(35): Show c.-2838_-2837insAGGAGGAGGAAAAGAGAGAGAATC	SMIM44	ENSG00000284638.2	transcript	ENST00000641816.2	protein_coding		2800		chr19	TogoVar
SMIM45_chr22_41947150_41963939	41958483	G G	GGAGAGAG others(17): Show GGAGAGAGAGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0010 a0001c0001t0023g0010	1	180	0.0056	24	c.59 others(33): Show c.593_*616dupAGAGAGAGAGAGAGAGAGAGAGAG	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	2/2	617	INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM46_chr19_14107324_14117476	14109999	T T	TATATACA others(17): Show TATATACATACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	233	0.0043	24	c.23 others(35): Show c.2324_*2325insGTGTGTGTGTGTGTGTATGTATAT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2324		chr19	TogoVar
SMIM46_chr19_14107324_14117476	14109999	T T	TATATATA others(17): Show TATATATACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	233	0.0043	24	c.23 others(35): Show c.2324_*2325insGTGTGTGTGTGTGTGTGTATATAT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2324		chr19	TogoVar
SMIM5_chr17_75628434_75646404	75642620	T T	TGATGACG others(17): Show TGATGACGATGATCATGAGGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 NA20300.hp2 HG02615.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	410	0.0049	24	c.17 others(35): Show c.1723_*1724insGATGACGATGATCATGAGGAGGAG	SMIM5	ENSG00000204323.5	transcript	ENST00000375215.3	protein_coding		1217		chr17	TogoVar
SMIM5_chr17_75628434_75646404	75645184	G G	GTTTTTAC others(17): Show GTTTTTACAAAATGTCCCTGATGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	410	0.0024	24	c.42 others(35): Show c.4287_*4288insTTTTTACAAAATGTCCCTGATGTT	SMIM5	ENSG00000204323.5	transcript	ENST00000375215.3	protein_coding		3781		chr17	TogoVar
SMIM6_chr17_75641251_75652974	75642620	T T	TGATGACG others(17): Show TGATGACGATGATCATGAGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 NA20300.hp1 HG02615.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	414	0.0048	24	c.-41 others(35): Show c.-4173_-4172insGATGACGATGATCATGAGGAGGAG	SMIM6	ENSG00000259120.3	transcript	ENST00000579469.2	protein_coding		3630		chr17	TogoVar
SMNDC1_chr10_110285730_110309920	110286930	G G	GAAAAACA others(17): Show GAAAAACAGGACAAAACAATTTACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	390	0.0026	24	c.72 others(35): Show c.7219_*7220insGGTAAATTGTTTTGTCCTGTTTTT	SMNDC1	ENSG00000119953.14	transcript	ENST00000369603.10	protein_coding		3799		chr10	TogoVar
SMOC1_chr14_69874416_70037366	69965404	T T	TAATAATA others(17): Show TAATAATAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19066.hp1 NA20129.hp2 NA18944.hp1 NA19066.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0006 a0001c0002t0002 a0001c0004t0006	a0001c0002t0002g0139 a0001c0002t0002g0195 a0001c0004t0006g0202 a0001c0002t0002g0139 a0001c0002t0002g0195 a0001c0004t0006g0202	3	229	0.0131	24	c.379 others(43): Show c.379-10309_379-10308insTAATAATAATAATAATAATAAAAA	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168599581	A A	ACACACAC others(17): Show ACACACACCCACACACACATACCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(154): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02293.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0002c0010 a0003c0009 a0004c0012 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0016 a0001c0003t0001 a0001c0003t0004 a0001c0004t0005 a0001c0005t0001 a0001c0007t0005 a0001c0011t0006 a0002c0010t0001 a0003c0009t0003 a0004c0012t0010 a0005c0006t0012	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(154): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0090 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0003g0149 a0001c0001t0003g0169 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0004g0129 a0001c0001t0006g0160 a0001c0001t0009g0161 a0001c0001t0011g0119 a0001c0001t0015g0163 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0180 a0001c0002t0007g0016 a0001c0002t0007g0053 a0001c0002t0008g0045 a0001c0002t0008g0047 a0001c0002t0013g0062 a0001c0002t0016g0046 a0001c0003t0001g0155 a0001c0003t0004g0100 a0001c0003t0004g0101 a0001c0003t0004g0102 a0001c0004t0005g0048 a0001c0004t0005g0049 a0001c0004t0005g0051 a0001c0005t0001g0126 a0001c0007t0005g0050 a0001c0011t0006g0167 a0002c0010t0001g0130 a0003c0009t0003g0086 a0004c0012t0010g0076 a0005c0006t0012g0018	157	168	0.9345	24	c.824 others(39): Show c.824+591_824+592insCACATACCCCCACACACCCACACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168599589	C C	CCACACAC others(17): Show CCACACACACATACCCCCACACACC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03516.hp1 HG02109.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0005 a0001c0013t0002 a0001c0002t0005 a0001c0013t0002	a0001c0002t0005g0069 a0001c0013t0002g0033 a0001c0002t0005g0069 a0001c0013t0002g0033	2	169	0.0118	24	c.824 others(39): Show c.824+591_824+592insCACATACCCCCACACACCCACACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168613854	G G	GGCCTCTT others(17): Show GGCCTCTTCTCCTAGAGCCAGCACA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	178	0.0056	24	c.907 others(41): Show c.907+5616_907+5617insCCTCTTCTCCTAGAGCCAGCACAG	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(17): Show GACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01081.hp1 HG01255.hp2 others(16): Show HG00673.hp2 HG01081.hp1 HG01255.hp2 HG02615.hp2 HG03041.hp2 HG03130.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG04204.hp2 NA18950.hp1 NA18992.hp2 NA19070.hp2 NA19078.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp1 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0004 a0003c0003 others(1): Show a0001c0002 a0001c0004 a0003c0003 a0004c0005	a0001c0002t0001 a0001c0002t0002 a0001c0004t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0003 a0003c0003t0002 a0003c0003t0006 a0004c0005t0001	a0001c0002t0001g0003 a0001c0002t0002g0002 a0001c0002t0002g0011 others(5): Show a0001c0002t0001g0003 a0001c0002t0002g0002 a0001c0002t0002g0011 a0001c0004t0003g0003 a0001c0004t0003g0008 a0003c0003t0002g0001 a0003c0003t0006g0001 a0004c0005t0001g0003	19	193	0.0984	24	c.41 others(35): Show c.4192_*4193insACACACACACACACACACACACAC	SMPD2	ENSG00000135587.9	transcript	ENST00000258052.8	protein_coding		4179		chr6	TogoVar
SMR3B_chr4_70378131_70395244	70391020	C C	CACACACA others(17): Show CACACACACACACACATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp1 others(67): Show HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG01081.hp1 HG01123.hp1 HG01255.hp2 HG01257.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01952.hp2 HG02004.hp1 HG02055.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02615.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03669.hp1 HG03831.hp2 HG04199.hp2 NA18906.hp2 NA18939.hp2 NA18945.hp2 NA18948.hp1 NA18952.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18972.hp1 NA18973.hp1 NA18977.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19012.hp2 NA19054.hp1 NA19063.hp2 NA19067.hp2 NA19070.hp2 NA19077.hp1 NA19081.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0028 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0007g0042 a0001c0001t0007g0043	70	349	0.2006	24	c.11 others(35): Show c.1172_*1173insACACACACACACACATATACACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		777		chr4	TogoVar
SMR3B_chr4_70378131_70395244	70391020	C C	CACACACA others(17): Show CACACACACACACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01069.hp1 others(30): Show HG00140.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02647.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp2 HG03579.hp2 HG04184.hp2 NA18522.hp1 NA18939.hp1 NA18957.hp1 NA18963.hp1 NA18990.hp1 NA19030.hp2 NA19079.hp2 NA19082.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0004g0008 a0001c0001t0005g0055	33	312	0.1058	24	c.11 others(35): Show c.1172_*1173insACACACACACACATATATACACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		777		chr4	TogoVar
SMS_chrX_21935709_21999837	21936104	G G	GTATTTAT others(17): Show GTATTTATTTATTTATTTATTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA19074.hp1 HG02165.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0198 a0001c0001t0002g0193 a0001c0001t0002g0198	2	89	0.0225	24	c.-47 others(35): Show c.-4721_-4720insTATTTATTTATTTATTTATTTATT	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding		4604		chrX	TogoVar
SMS_chrX_21935709_21999837	21944544	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02129.hp1 HG02165.hp2 others(15): Show HG01168.hp2 HG02129.hp1 HG02165.hp2 HG02273.hp1 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 NA18612.hp1 NA18961.hp1 NA18971.hp1 NA18972.hp2 NA18981.hp2 NA18999.hp1 NA19057.hp1 NA19068.hp1 NA19077.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0120 a0001c0001t0001g0227 a0001c0001t0001g0229 others(15): Show a0001c0001t0001g0120 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0296 a0001c0001t0004g0121 a0001c0001t0004g0145 a0001c0001t0004g0166	18	264	0.0682	24	c.49+ others(39): Show c.49+3672_49+3673insAAAAAAAAAAAAAAAAAGAAAAGA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar

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