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
SERPIND1_chr22_20769113_20792720	20780775	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18952.hp1 NA18974.hp2 others(2): Show HG02027.hp1 NA18952.hp1 NA18974.hp2 NA19007.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0014 a0001c0001t0001g0048 a0001c0001t0001g0049	5	175	0.0286	26	c.889 others(41): Show c.889+590_889+591insAAAAAAAAAAAAAAAAAAAAAAAAAA	SERPIND1	ENSG00000099937.11	transcript	ENST00000215727.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERPINE1_chr7_101122104_101144247	101136456	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG03669.hp2 others(1): Show HG01516.hp2 HG01517.hp1 HG03669.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0162 others(1): Show a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0162 a0001c0001t0024g0147	4	244	0.0164	26	c.108 others(43): Show c.1088-536_1088-535insAAGAAAGAAAGAAAGACAAAGAAAGA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINE2_chr2_223970045_224044286	224005065	T T	TTATATAT others(19): Show TTATATATTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 NA18939.hp1 others(4): Show HG03491.hp2 HG03492.hp2 NA18939.hp1 NA18966.hp2 NA18969.hp1 NA18982.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0044 others(4): Show a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0160 a0001c0002t0001g0163 a0001c0002t0001g0167	7	258	0.0271	26	c.-22 others(43): Show c.-22-3144_-22-3143insTATATATATATATATATAAATATATA	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	1/8			chr2	TogoVar
SERPINE3_chr13_51334691_51369735	51355223	T T	TTCCACAG others(19): Show TTCCACAGAGCCTTCAGTGGTAAACAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00438.hp2 others(88): Show HG00099.hp2 HG00140.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18956.hp1 NA18957.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18997.hp1 NA18998.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19059.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0008 a0003c0003 others(1): Show a0001c0001 a0001c0008 a0003c0003 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0008t0002 a0003c0003t0005 a0003c0003t0010 a0006c0007t0002	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0019 others(52): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0021 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0007g0004 a0001c0008t0002g0115 a0003c0003t0005g0020 a0003c0003t0005g0060 a0003c0003t0010g0084 a0006c0007t0002g0063	91	430	0.2116	26	c.100 others(41): Show c.1000+82_1000+83insCACAGAGCCTTCAGTGGTAAACAATC	SERPINE3	ENSG00000253309.7	transcript	ENST00000681248.1	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
SERPINI1_chr3_167730721_167830569	167759400	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp2 NA18945.hp1 others(1): Show HG00639.hp2 HG01175.hp2 NA18945.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0111 a0002c0002t0001g0064 a0002c0002t0001g0085 others(1): Show a0001c0001t0001g0111 a0002c0002t0001g0064 a0002c0002t0001g0085 a0004c0005t0001g0134	4	125	0.0320	26	c.-19 others(45): Show c.-19+23598_-19+23599insATATATATATATATATATATATATAT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167772864	C C	CTCTCTCT others(19): Show CTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	95	0.0105	26	c.-18 others(45): Show c.-18-16246_-18-16245insCTCTCTATATATATATATATATATAT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167829345	C C	CTATGTGT others(19): Show CTATGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02615.hp1 HG01123.hp1 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0209 a0002c0002t0001g0014 a0001c0001t0001g0209 a0002c0002t0001g0014	2	104	0.0192	26	c.40 others(37): Show c.4022_*4023insTATGTGTGTGTGTGTGTGTGTGTGTG	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding		3777		chr3	TogoVar
SERTAD1_chr19_40416589_40430992	40419253	A A	AGAGAGAG others(19): Show AGAGAGAGAGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0005 a0001c0003t0003g0005	1	276	0.0036	26	c.35 others(37): Show c.3582_*3583insACACACACACACACACACTCTCTCTC	SERTAD1	ENSG00000197019.5	transcript	ENST00000357949.5	protein_coding		2335		chr19	TogoVar
SERTM1_chr13_36669020_36702839	36678679	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03453.hp2 HG02976.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0031 a0001c0001t0009g0031	2	378	0.0053	26	c.-17 others(45): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SESN3_chr11_95160513_95236202	95186194	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18957.hp2 NA18961.hp2 others(2): Show HG02132.hp2 NA18957.hp2 NA18961.hp2 NA18966.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017	a0001c0001t0002g0083 a0001c0001t0002g0142 a0001c0001t0007g0118 others(2): Show a0001c0001t0002g0083 a0001c0001t0002g0142 a0001c0001t0007g0118 a0001c0001t0009g0059 a0001c0001t0017g0164	5	37	0.1351	26	c.526 others(41): Show c.526-728_526-703dupCACACACACACACACACACACACACA	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	4/9			chr11	TogoVar
SESTD1_chr2_179096678_179269832	179185682	T T	TATATATA others(19): Show TATATATAATATAGTATATTATATACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(72): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01081.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp2 HG02523.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03139.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04199.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 others(17): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0001t0053 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0066 a0001c0001t0067 a0001c0002t0010 a0001c0002t0024 a0001c0002t0039 a0001c0002t0041 a0001c0002t0045 a0001c0006t0001	a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0201 others(72): Show a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0011g0153 a0001c0001t0021g0222 a0001c0001t0027g0228 a0001c0001t0027g0231 a0001c0001t0028g0002 a0001c0001t0053g0150 a0001c0001t0057g0251 a0001c0001t0059g0252 a0001c0001t0060g0238 a0001c0001t0061g0210 a0001c0001t0062g0221 a0001c0001t0063g0229 a0001c0001t0066g0272 a0001c0001t0067g0273 a0001c0002t0010g0037 a0001c0002t0010g0105 a0001c0002t0010g0106 a0001c0002t0010g0107 a0001c0002t0010g0110 a0001c0002t0010g0111 a0001c0002t0010g0112 a0001c0002t0024g0146 a0001c0002t0024g0147 a0001c0002t0039g0109 a0001c0002t0041g0108 a0001c0002t0045g0145 a0001c0006t0001g0198 a0001c0006t0001g0199 a0001c0006t0001g0200	75	272	0.2757	26	c.56- others(41): Show c.56-2520_56-2495dupTGTATATAATATACTATATTATATAT	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	2/17			chr2	TogoVar
SESTD1_chr2_179096678_179269832	179185690	A A	ATATAGTA others(19): Show ATATAGTATATTATATACAATATATAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0202 a0001c0001t0064g0202	1	272	0.0037	26	c.56- others(41): Show c.56-2503_56-2502insGTATATATTGTATATAATATACTATA	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	2/17			chr2	TogoVar
SESTD1_chr2_179096678_179269832	179229749	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0172 a0001c0001t0019g0172	1	146	0.0068	26	c.-26 others(45): Show c.-26+34724_-26+34749dupTATATATATATATATATATATATATA	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	1/17			chr2	TogoVar
SETBP1_chr18_44675888_45073510	44679937	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01934.hp2 HG01255.hp1 HG01934.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0002 a0002c0002t0002 a0001c0005t0002 a0002c0002t0002	a0001c0005t0002g0031 a0002c0002t0002g0042 a0001c0005t0002g0031 a0002c0002t0002g0042	2	11	0.1818	26	c.-12 others(37): Show c.-1257_-1256insATATATATATATATATATATATATAT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding		950		chr18	TogoVar
SETBP1_chr18_44675888_45073510	44787860	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02723.hp1 HG03579.hp1 HG00735.hp1 HG02723.hp1 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0003 a0001c0001 a0001c0009 a0003c0003	a0001c0001t0002 a0001c0009t0002 a0003c0003t0008 a0001c0001t0002 a0001c0009t0002 a0003c0003t0008	a0001c0001t0002g0127 a0001c0009t0002g0106 a0003c0003t0008g0009 a0001c0001t0002g0127 a0001c0009t0002g0106 a0003c0003t0008g0009	3	8	0.3750	26	c.487 others(45): Show c.487-81350_487-81349insAAAAAAAAAAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44885842	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0132 a0002c0002t0014g0132	1	78	0.0128	26	c.540 others(45): Show c.540+16573_540+16574insAAAAAAAAAAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG02257.hp1 others(6): Show HG01081.hp1 HG01192.hp1 HG02257.hp1 HG02622.hp2 HG02698.hp2 HG03225.hp1 HG04184.hp1 NA18612.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0051 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0102	9	33	0.2727	26	c.676 others(43): Show c.676-9680_676-9655dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD3_chr14_99392748_99485859	99444631	G G	GTAGGATC others(19): Show GTAGGATCCGCACTTGGGAGGCTAGGC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	288	0.0035	26	c.675 others(45): Show c.675+13647_675+13648insGCCTAGCCTCCCAAGTGCGGATCCTA	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD5_chr3_9392615_9483154	9437522	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0166	1	137	0.0073	26	c.567 others(43): Show c.567+1619_567+1644dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD5_chr3_9392615_9483154	9445965	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0201 a0003c0005t0009g0201	1	147	0.0068	26	c.152 others(43): Show c.1524+248_1524+249insTTTTTTTTTTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD7_chr4_139501038_139561219	139502836	G G	GAGGAGGT others(19): Show GAGGAGGTGGAAGTTCGGGATCAGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	314	0.0032	26	c.88 others(37): Show c.8801_*8826dupATCCTGATCCCGAACTTCCACCTCCT	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding		3201		chr4	TogoVar
SETDB2_chr13_49439274_49500003	49441221	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG03041.hp2 others(1): Show HG02109.hp2 HG02145.hp2 HG03041.hp2 NA21309.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0032 a0003c0004t0005 a0003c0004t0032	a0003c0004t0005g0208 a0003c0004t0005g0221 a0003c0004t0005g0223 others(1): Show a0003c0004t0005g0208 a0003c0004t0005g0221 a0003c0004t0005g0223 a0003c0004t0032g0222	4	247	0.0162	26	c.-39 others(37): Show c.-3978_-3977insTATATATATATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3052		chr13	TogoVar
SETDB2_chr13_49439274_49500003	49441221	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02896.hp2 HG02257.hp2 HG02896.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0075 a0004c0005t0006g0076 a0004c0005t0006g0075 a0004c0005t0006g0076	2	245	0.0082	26	c.-39 others(37): Show c.-3978_-3977insTGTATATATATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3052		chr13	TogoVar
SETX_chr9_132256356_132359986	132271661	A A	AAGCAACA others(19): Show AAGCAACAATGTATACAAGTATAAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03540.hp2 HG06807.hp1 HG01361.hp1 HG03540.hp2 HG06807.hp1	a0020 a0025 a0020 a0025	a0020c0018 a0025c0043 a0020c0018 a0025c0043	a0020c0018t0012 a0025c0043t0012 a0020c0018t0012 a0025c0043t0012	a0020c0018t0012g0145 a0020c0018t0012g0146 a0025c0043t0012g0359 a0020c0018t0012g0145 a0020c0018t0012g0146 a0025c0043t0012g0359	3	360	0.0083	26	c.719 others(41): Show c.7199+23_7199+48dupCTTTTATACTTGTATACATTGTTGCT	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	24/25			chr9	TogoVar
SEZ6L_chr22_26164462_26388596	26333547	A A	AGTCTACT others(19): Show AGTCTACTCTGTGCAAGATCTGAGCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02717.hp1 HG03209.hp1 others(4): Show HG01109.hp1 HG02717.hp1 HG03209.hp1 HG03225.hp2 NA18906.hp2 NA19240.hp1 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0012 a0003c0004 a0002c0002 a0002c0012 a0003c0004	a0002c0002t0001 a0002c0002t0009 a0002c0012t0001 others(2): Show a0002c0002t0001 a0002c0002t0009 a0002c0012t0001 a0002c0012t0004 a0003c0004t0002	a0002c0002t0001g0004 a0002c0002t0001g0088 a0002c0002t0001g0092 others(4): Show a0002c0002t0001g0004 a0002c0002t0001g0088 a0002c0002t0001g0092 a0002c0002t0009g0192 a0002c0012t0001g0150 a0002c0012t0004g0148 a0003c0004t0002g0189	7	238	0.0294	26	c.201 others(45): Show c.2016-6887_2016-6862dupTCTACTCTGTGCAAGATCTGAGCCCG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348612	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	164	0.0061	26	c.240 others(43): Show c.2407+700_2407+701insGAAAGAAAGAAAGAAAGAAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02647.hp2 HG01361.hp2 HG02647.hp2	a0002 a0009 a0002 a0009	a0002c0012 a0009c0028 a0002c0012 a0009c0028	a0002c0012t0004 a0009c0028t0016 a0002c0012t0004 a0009c0028t0016	a0002c0012t0004g0147 a0009c0028t0016g0139 a0002c0012t0004g0147 a0009c0028t0016g0139	2	71	0.0282	26	c.240 others(43): Show c.2407+734_2407+735insGAAAGAAAGAAAGAAAGAAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp2 HG01981.hp2 others(7): Show HG00140.hp1 HG01243.hp2 HG01981.hp2 HG02630.hp1 HG03486.hp2 HG03654.hp2 HG04204.hp2 NA18962.hp1 NA18962.hp2 NA19076.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0008 others(2): Show a0001c0001 a0001c0007 a0001c0008 a0001c0009 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0007t0003 a0001c0008t0005 a0001c0009t0002 a0002c0002t0001	a0001c0001t0002g0054 a0001c0001t0002g0201 a0001c0001t0002g0223 others(7): Show a0001c0001t0002g0054 a0001c0001t0002g0201 a0001c0001t0002g0223 a0001c0001t0003g0143 a0001c0001t0005g0066 a0001c0007t0003g0231 a0001c0008t0005g0082 a0001c0009t0002g0170 a0002c0002t0001g0022 a0002c0002t0001g0087	10	94	0.1064	26	c.279 others(45): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTTTTTTTTTTTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3A3_chr1_37951975_37995022	37983586	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0319 a0001c0001t0004g0319	1	2	0.5000	26	c.468 others(41): Show c.468+582_468+583insTTTTTTTTTTTTTTTTTTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	6/16			chr1	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	12	0.0833	26	c.495 others(41): Show c.495+249_495+274dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATAATATA others(19): Show ATAATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	77	0.0130	26	c.124 others(45): Show c.1249-1638_1249-1637insAATATATATATATATATATATTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582237	T T	TATATATA others(19): Show TATATATATATATTATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0063 a0014c0015t0001g0063	1	299	0.0033	26	c.124 others(45): Show c.1249-1638_1249-1637insATATATATATATTATATATATATATA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32			chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp2 HG01261.hp1 others(11): Show HG00438.hp1 HG00733.hp2 HG01261.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02132.hp2 HG02698.hp1 HG03239.hp1 HG03688.hp1 HG03834.hp2 NA18940.hp2 NA18953.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0021 others(11): Show a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0223 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0242 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0005g0171 a0001c0003t0001g0187	14	131	0.1069	26	c.124 others(43): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFRP1_chr8_41256962_41314473	41311572	C C	CCCGAACT others(19): Show CCCGAACTGCACGCACTAACCGAGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0327 a0002c0002t0003g0327	1	382	0.0026	26	c.-24 others(37): Show c.-2414_-2413insAAACTCGGTTAGTGCGTGCAGTTCGG	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding		2100		chr8	TogoVar
SFRP2_chr4_153775591_153794083	153789505	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	21	0.0476	26	c.-67 others(35): Show c.-671_-670insACACACACACACACACACACACACAC	SFRP2	ENSG00000145423.5	transcript	ENST00000274063.5	protein_coding		423		chr4	TogoVar
SFRP4_chr7_37900932_37921817	37911917	A A	ATACTCAT others(19): Show ATACTCATATTTTGATTTTTCCTTCAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp1 others(90): Show HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01256.hp1 HG01515.hp1 HG01928.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02886.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp1 NA19001.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19075.hp1 NA19079.hp1 NA19081.hp2 NA19090.hp1 NA20129.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0001 a0001c0001t0003 a0004c0012t0001 a0001c0001t0001 a0001c0001t0003 a0004c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0003g0047 a0004c0012t0001g0077	93	470	0.1979	26	c.791 others(41): Show c.791+176_791+201dupATGAAGGAAAAATCAAAATATGAGTA	SFRP4	ENSG00000106483.12	transcript	ENST00000436072.7	protein_coding	4/5			chr7	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02148.hp2 NA18941.hp1 others(2): Show HG01517.hp2 HG02148.hp2 NA18941.hp1 NA18969.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0143 a0001c0001t0001g0228 others(2): Show a0001c0001t0001g0113 a0001c0001t0001g0143 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0265	5	37	0.1351	26	c.240 others(45): Show c.2409-2666_2409-2641dupTATATATATATATATATATATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFT2D1_chr6_166314728_166347545	166318129	G G	GCCCGGAT others(19): Show GCCCGGATGTGATGCTTTTCAAGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02145.hp2 HG02717.hp1 others(15): Show HG02015.hp2 HG02145.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02970.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03710.hp2 HG06807.hp1 HG06807.hp2 NA18955.hp2 NA18971.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005	a0001c0002t0003g0020 a0001c0002t0003g0047 a0001c0002t0003g0171 others(10): Show a0001c0002t0003g0020 a0001c0002t0003g0047 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0177 a0001c0002t0004g0044 a0001c0002t0004g0161 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0164 a0001c0002t0005g0063 a0001c0002t0005g0159	18	386	0.0466	26	c.20 others(37): Show c.2087_*2088insTGAGCTTGAAAAGCATCACATCCGGG	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding		1598		chr6	TogoVar
SFT2D2_chr1_168221004_168258021	168229689	T T	TAGTTCTT others(19): Show TAGTTCTTTTCGCACCTTGGCAAGGTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG03130.hp1 others(2): Show HG02572.hp1 HG02717.hp2 HG03130.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0065 a0001c0001t0074 a0001c0001t0018 a0001c0001t0065 a0001c0001t0074	a0001c0001t0018g0018 a0001c0001t0018g0073 a0001c0001t0065g0101 others(1): Show a0001c0001t0018g0018 a0001c0001t0018g0073 a0001c0001t0065g0101 a0001c0001t0074g0018	5	350	0.0143	26	c.64- others(41): Show c.64-1816_64-1791dupTCGCACCTTGGCAAGGTAAGTTCTTT	SFT2D2	ENSG00000213064.10	transcript	ENST00000271375.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SFT2D3_chr2_127696497_127710242	127700138	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	223	0.0045	26	c.-13 others(37): Show c.-1391_-1390insTATATATATATATATATATATATATT	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding		1358		chr2	TogoVar
SFTPC_chr8_22156798_22169479	22165882	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18747.hp2 HG00438.hp2 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0005 a0002c0002t0002g0001 a0001c0001t0001g0005 a0002c0002t0002g0001	2	48	0.0417	26	c.16 others(37): Show c.1635_*1636insGTGTGTGTGTGTGTGTGTGTGTGTGT	SFTPC	ENSG00000168484.13	transcript	ENST00000679463.1	protein_coding		1404		chr8	TogoVar
SFXN5_chr2_72937036_73076712	73047249	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02258.hp2 HG03704.hp2 others(1): Show HG01169.hp2 HG02258.hp2 HG03704.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0158 others(1): Show a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0158 a0001c0001t0002g0142	4	236	0.0169	26	c.172 others(43): Show c.172-6319_172-6318insGTGTGTATATATATATATATATATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047251	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp2 HG01192.hp2 others(7): Show HG00597.hp2 HG00741.hp2 HG01192.hp2 HG01361.hp1 HG01433.hp2 HG02165.hp2 HG03017.hp2 HG03942.hp1 HG04204.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0122 a0001c0001t0001g0148 a0001c0001t0001g0149 others(7): Show a0001c0001t0001g0122 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0002g0140 a0001c0001t0008g0138 a0001c0002t0001g0167	10	237	0.0422	26	c.172 others(43): Show c.172-6321_172-6320insGTGTGTATATATATATATATATATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047283	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	234	0.0043	26	c.172 others(43): Show c.172-6353_172-6352insGTGTGTATATATATATATATATATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCACAC others(19): Show GCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	71	0.0141	26	c.171 others(43): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGTGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCAC others(19): Show GCGCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp2 HG01975.hp1 others(5): Show HG00741.hp1 HG01256.hp2 HG01975.hp1 HG01978.hp1 HG02074.hp1 NA18952.hp1 NA19070.hp1 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0013 a0001c0002t0001 a0001c0002t0013	a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 others(5): Show a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0236 a0001c0002t0013g0075 a0001c0002t0013g0076	8	78	0.1026	26	c.171 others(43): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCGC others(19): Show GCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	71	0.0141	26	c.171 others(43): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGCGCGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03453.hp1 HG02145.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0053 a0001c0001t0001 a0001c0002t0053	a0001c0001t0001g0146 a0001c0002t0053g0085 a0001c0001t0001g0146 a0001c0002t0053g0085	2	74	0.0270	26	c.192 others(43): Show c.192+5587_192+5588insATATATATATATATATATATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156406018	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0144 a0001c0001t0016g0144	1	22	0.0455	26	c.192 others(45): Show c.192+61357_192+61358insAAAAAAAAAAAAAAAAAAAAAAAAAA	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156406790	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA19011.hp1 HG01258.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0061 a0001c0002t0024 a0001c0002t0061	a0001c0002t0024g0100 a0001c0002t0061g0103 a0001c0002t0024g0100 a0001c0002t0061g0103	2	19	0.1053	26	c.192 others(45): Show c.192+62118_192+62143dupTATATATATATATATATATATATATA	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar

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