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
SATB1_chr3_18340377_18430339	18346578	TTGTGTGT others(1): Show TTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01934.hp1 HG02809.hp2 others(3): Show HG01109.hp1 HG01934.hp1 HG02809.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0043 a0001c0002t0030 a0001c0002t0043 others(1): Show a0001c0001t0043 a0001c0002t0030 a0001c0002t0043 a0001c0002t0114	a0001c0001t0043g0131 a0001c0002t0030g0019 a0001c0002t0030g0231 others(2): Show a0001c0001t0043g0131 a0001c0002t0030g0019 a0001c0002t0030g0231 a0001c0002t0043g0186 a0001c0002t0114g0315	6	352	0.0171	-8	c.25 others(19): Show c.2584_*2591delCACACACA	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding	11/11	2584		chr3	TogoVar
SATB2_chr2_199264505_199462939	199346858	CTTTTTTT others(1): Show CTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02145.hp1 HG02965.hp1 others(5): Show HG01070.hp1 HG02145.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0007 a0001c0003t0003 a0001c0001t0006 a0001c0001t0007 a0001c0003t0003	a0001c0001t0006g0140 a0001c0001t0006g0200 a0001c0001t0006g0202 others(5): Show a0001c0001t0006g0140 a0001c0001t0006g0200 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0251 a0001c0001t0007g0201 a0001c0003t0003g0148	8	254	0.0315	-8	c.117 others(27): Show c.1173+1835_1173+1842delAAAAAAAA	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	7/10			chr2	TogoVar
SATB2_chr2_199264505_199462939	199386694	AAGCGCGC others(1): Show AAGCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp2 HG03139.hp2 HG02145.hp1 HG02809.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0219 a0001c0001t0006g0202 a0001c0001t0006g0251 a0001c0001t0001g0219 a0001c0001t0006g0202 a0001c0001t0006g0251	3	254	0.0118	-8	c.347 others(25): Show c.347-4882_347-4875delCGCGCGCT	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	3/10			chr2	TogoVar
SATB2_chr2_199264505_199462939	199426692	CAAAAAAA others(1): Show CAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02896.hp2 NA18612.hp2 others(5): Show HG00621.hp1 HG02896.hp2 NA18612.hp2 NA18966.hp2 NA19009.hp1 NA19060.hp2 NA19068.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(5): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0231 a0001c0001t0001g0232	8	254	0.0315	-8	c.346 others(25): Show c.346+6638_346+6645delTTTTTTTT	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	3/10			chr2	TogoVar
SATL1_chrX_85087284_85248779	85088126	ATACATAT others(1): Show ATACATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	232	0.0043	-8	c.42 others(19): Show c.4257_*4264delAATATGTA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4157		chrX	TogoVar
SATL1_chrX_85087284_85248779	85125519	AGTGTGTG others(1): Show AGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0059 a0008c0011t0001g0059	1	232	0.0043	-8	c.-31 others(29): Show c.-312-16247_-312-16240delACACACAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SATL1_chrX_85087284_85248779	85156813	TTATATAT others(1): Show TTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01074.hp1 others(8): Show HG00558.hp1 HG00673.hp1 HG01074.hp1 HG01106.hp1 HG01255.hp1 HG02486.hp1 HG02723.hp1 HG02965.hp1 HG03486.hp1 HG03831.hp1 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0005c0005t0002	a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0100 others(8): Show a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0100 a0001c0001t0001g0105 a0002c0002t0001g0144 a0002c0002t0001g0149 a0002c0002t0001g0160 a0002c0002t0003g0010 a0002c0002t0003g0012 a0003c0003t0001g0070 a0005c0005t0002g0044	11	232	0.0474	-8	c.-31 others(29): Show c.-312-47541_-312-47534delTATATATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SATL1_chrX_85087284_85248779	85166935	ATGTGTAT others(1): Show ATGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG02723.hp2 others(3): Show HG01891.hp2 HG02559.hp1 HG02723.hp2 HG02970.hp2 HG03486.hp2 HG03516.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0015 a0001c0001 a0002c0002 a0007c0015	a0001c0001t0003 a0002c0002t0003 a0007c0015t0002 a0001c0001t0003 a0002c0002t0003 a0007c0015t0002	a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 others(3): Show a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0002c0002t0003g0017 a0002c0002t0003g0018 a0007c0015t0002g0048	6	232	0.0259	-8	c.-31 others(29): Show c.-313+57262_-313+57269delCATACACA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SATL1_chrX_85087284_85248779	85166941	ATGTGTGT others(1): Show ATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp1 HG01169.hp1 others(7): Show HG00738.hp1 HG01167.hp1 HG01169.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03225.hp1 HG06807.hp1 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0049 a0004c0004t0002g0050 a0004c0004t0002g0051 others(7): Show a0004c0004t0002g0049 a0004c0004t0002g0050 a0004c0004t0002g0051 a0004c0004t0002g0052 a0004c0004t0002g0053 a0004c0004t0002g0054 a0004c0004t0002g0055 a0004c0004t0002g0056 a0004c0004t0002g0057 a0004c0004t0002g0058	10	232	0.0431	-8	c.-31 others(29): Show c.-313+57256_-313+57263delCACACACA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SATL1_chrX_85087284_85248779	85220644	TAAAAAAA others(1): Show TAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	232	0.0043	-8	c.-31 others(27): Show c.-313+3553_-313+3560delTTTTTTTT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SAV1_chr14_50628580_50673306	50662159	GTTATTTA others(1): Show GTTATTTAT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG02630.hp2 others(1): Show HG01261.hp1 HG01496.hp2 HG02630.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0132 a0001c0001t0007g0133 a0001c0001t0007g0134 others(1): Show a0001c0001t0007g0132 a0001c0001t0007g0133 a0001c0001t0007g0134 a0001c0001t0007g0194	4	390	0.0103	-8	c.535 others(25): Show c.535+3012_535+3019delATAAATAA	SAV1	ENSG00000151748.15	transcript	ENST00000324679.5	protein_coding	2/4			chr14	TogoVar
SBF2_chr11_9773668_10299219	9942901	GAGAAAGA others(1): Show GAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp2 HG02723.hp2 others(6): Show HG01109.hp1 HG02572.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG03209.hp2 HG03453.hp1 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0009 a0001c0001 a0001c0005 a0006c0009	a0001c0001t0005 a0001c0001t0018 a0001c0005t0001 others(2): Show a0001c0001t0005 a0001c0001t0018 a0001c0005t0001 a0001c0005t0009 a0006c0009t0001	a0001c0001t0005g0202 a0001c0001t0018g0222 a0001c0005t0001g0195 others(6): Show a0001c0001t0005g0202 a0001c0001t0018g0222 a0001c0005t0001g0195 a0001c0005t0001g0201 a0001c0005t0001g0204 a0001c0005t0009g0198 a0001c0005t0009g0203 a0006c0009t0001g0197 a0006c0009t0001g0199	9	224	0.0402	-8	c.186 others(29): Show c.1860+19048_1860+19055delTTCTTTCT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	16/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9942980	GAAGAAAG others(1): Show GAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02027.hp1 HG02109.hp2 others(11): Show HG00558.hp2 HG02027.hp1 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG04115.hp2 NA19240.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0010 a0001c0001 a0001c0003 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0004c0010t0001	a0001c0001t0001g0017 a0001c0001t0002g0044 a0001c0001t0002g0089 others(11): Show a0001c0001t0001g0017 a0001c0001t0002g0044 a0001c0001t0002g0089 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0189 a0001c0001t0005g0192 a0001c0003t0002g0184 a0001c0003t0004g0205 a0001c0003t0005g0186 a0004c0010t0001g0169 a0004c0010t0001g0183	14	224	0.0625	-8	c.186 others(29): Show c.1860+18969_1860+18976delTCTTTCTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	16/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9952241	TAAATACA others(1): Show TAAATACAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01975.hp2 HG02004.hp2 others(10): Show HG00673.hp2 HG01975.hp2 HG02004.hp2 HG03540.hp1 NA18946.hp1 NA18951.hp2 NA18966.hp2 NA19005.hp1 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0003c0004t0003	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0039 others(10): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0002g0023 a0001c0001t0002g0033 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0051 a0001c0001t0003g0116 a0001c0001t0003g0153 a0001c0001t0012g0001 a0003c0004t0003g0009 a0003c0004t0003g0026	13	224	0.0580	-8	c.186 others(27): Show c.1860+9708_1860+9715delGTGTATTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	16/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9952245	TACACAAA others(1): Show TACACAAAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00735.hp2 others(18): Show HG00423.hp1 HG00558.hp1 HG00735.hp2 HG01099.hp2 HG01243.hp1 HG01361.hp1 HG01981.hp2 HG02135.hp2 HG02148.hp1 HG03516.hp1 HG03704.hp1 NA18939.hp1 NA18948.hp2 NA18969.hp2 NA18973.hp1 NA18995.hp1 NA18999.hp1 NA19066.hp1 NA19068.hp2 NA19082.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0004t0003	a0001c0001t0001g0035 a0001c0001t0002g0037 a0001c0001t0003g0021 others(18): Show a0001c0001t0001g0035 a0001c0001t0002g0037 a0001c0001t0003g0021 a0001c0001t0003g0034 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0003g0036 a0002c0002t0004g0010 a0002c0002t0004g0014 a0002c0002t0004g0020 a0003c0004t0003g0011 a0003c0004t0003g0022 a0003c0004t0003g0028 a0003c0004t0003g0032 a0003c0004t0003g0052 a0003c0004t0003g0138	21	224	0.0938	-8	c.186 others(27): Show c.1860+9704_1860+9711delGTTTGTGT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	16/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9952247	CACAAACA others(1): Show CACAAACAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00733.hp2 others(43): Show HG00558.hp2 HG00609.hp2 HG00733.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp1 HG02074.hp2 HG02148.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03453.hp2 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18946.hp2 NA18952.hp1 NA18960.hp2 NA18969.hp1 NA18973.hp2 NA18986.hp1 NA18995.hp2 NA19005.hp2 NA19012.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19082.hp2 NA19085.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0001c0003 a0001c0012 others(6): Show a0001c0001 a0001c0003 a0001c0012 a0001c0019 a0001c0020 a0002c0002 a0003c0004 a0004c0010 a0011c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0012t0005 a0001c0019t0002 a0001c0020t0005 a0002c0002t0001 a0003c0004t0003 a0004c0010t0001 a0011c0021t0001	a0001c0001t0001g0017 a0001c0001t0001g0077 a0001c0001t0001g0082 others(43): Show a0001c0001t0001g0017 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0003g0076 a0001c0001t0003g0091 a0001c0001t0003g0100 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0005g0187 a0001c0001t0005g0202 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0003t0002g0019 a0001c0003t0002g0184 a0001c0003t0004g0205 a0001c0003t0005g0162 a0001c0012t0005g0194 a0001c0019t0002g0090 a0001c0020t0005g0149 a0002c0002t0001g0119 a0003c0004t0003g0121 a0004c0010t0001g0169 a0004c0010t0001g0183 a0011c0021t0001g0101	46	224	0.2054	-8	c.186 others(27): Show c.1860+9702_1860+9709delTTGTTTGT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	16/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9967971	CTATATAT others(1): Show CTATATATA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01071.hp2 others(5): Show HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp1 NA19005.hp1 NA19063.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0003t0004 a0001c0001t0002 a0001c0003t0002 a0001c0003t0004	a0001c0001t0002g0033 a0001c0003t0002g0154 a0001c0003t0002g0159 others(5): Show a0001c0001t0002g0033 a0001c0003t0002g0154 a0001c0003t0002g0159 a0001c0003t0002g0163 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158	8	224	0.0357	-8	c.160 others(25): Show c.1600+362_1600+369delTATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	14/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9999279	CTGTATGT others(1): Show CTGTATGTA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp2 HG01884.hp1 others(13): Show HG01109.hp1 HG01346.hp2 HG01884.hp1 HG01943.hp2 HG02145.hp2 HG02572.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp1 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0001c0018 others(1): Show a0001c0001 a0001c0005 a0001c0018 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0005t0001 a0001c0005t0009 a0001c0018t0001 a0006c0009t0001	a0001c0001t0001g0147 a0001c0001t0001g0179 a0001c0001t0002g0196 others(13): Show a0001c0001t0001g0147 a0001c0001t0001g0179 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0005g0187 a0001c0001t0005g0202 a0001c0001t0007g0188 a0001c0001t0018g0222 a0001c0005t0001g0195 a0001c0005t0001g0201 a0001c0005t0001g0204 a0001c0005t0009g0198 a0001c0005t0009g0203 a0001c0018t0001g0050 a0006c0009t0001g0197 a0006c0009t0001g0199	16	224	0.0714	-8	c.862 others(23): Show c.862-908_862-901delTACATACA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	8/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10055524	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00673.hp2 others(30): Show HG00609.hp1 HG00609.hp2 HG00673.hp2 HG01109.hp1 HG01168.hp2 HG01261.hp2 HG01346.hp2 HG01943.hp2 HG02004.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 NA18522.hp2 NA18939.hp2 NA18944.hp1 NA18951.hp2 NA18966.hp1 NA18969.hp1 NA18973.hp2 NA19005.hp2 NA19012.hp2 NA19056.hp2 NA19066.hp2 NA19085.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0018 a0002c0002 a0003c0004 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0003t0005 a0001c0005t0001 a0001c0005t0009 a0001c0018t0001 a0002c0002t0001 a0003c0004t0003 a0006c0009t0001	a0001c0001t0001g0029 a0001c0001t0001g0077 a0001c0001t0001g0136 others(30): Show a0001c0001t0001g0029 a0001c0001t0001g0077 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0177 a0001c0001t0002g0109 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0161 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0003g0025 a0001c0001t0003g0076 a0001c0001t0003g0091 a0001c0001t0003g0100 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0005g0202 a0001c0001t0006g0140 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0001t0018g0222 a0001c0003t0005g0186 a0001c0005t0001g0195 a0001c0005t0001g0201 a0001c0005t0001g0204 a0001c0005t0009g0198 a0001c0005t0009g0203 a0001c0018t0001g0050 a0002c0002t0001g0098 a0003c0004t0003g0009 a0006c0009t0001g0197 a0006c0009t0001g0199	33	224	0.1473	-8	c.142 others(27): Show c.142-12551_142-12544delGTGTGTGT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10098679	GCACACAC others(1): Show GCACACACA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp1 others(31): Show HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00673.hp2 HG00735.hp2 HG01099.hp2 HG01243.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02135.hp1 HG02148.hp1 HG02683.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp1 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19005.hp1 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0004t0003	a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0030 others(31): Show a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0002g0023 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0034 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0051 a0001c0001t0003g0153 a0001c0001t0003g0191 a0001c0001t0004g0218 a0001c0001t0012g0001 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0003g0036 a0002c0002t0004g0010 a0002c0002t0004g0020 a0003c0004t0003g0009 a0003c0004t0003g0011 a0003c0004t0003g0022 a0003c0004t0003g0026 a0003c0004t0003g0028 a0003c0004t0003g0032 a0003c0004t0003g0052	34	224	0.1518	-8	c.142 others(27): Show c.142-55706_142-55699delTGTGTGTG	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10101659	CTGTGTGT others(1): Show CTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02615.hp1 others(6): Show HG01884.hp1 HG02109.hp2 HG02615.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG03225.hp1 HG04115.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0012 others(1): Show a0001c0001 a0001c0003 a0001c0012 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0003t0002 a0001c0003t0004 a0001c0012t0005 a0004c0010t0001	a0001c0001t0001g0193 a0001c0001t0002g0190 a0001c0001t0005g0192 others(6): Show a0001c0001t0001g0193 a0001c0001t0002g0190 a0001c0001t0005g0192 a0001c0001t0007g0188 a0001c0003t0002g0184 a0001c0003t0004g0205 a0001c0012t0005g0194 a0004c0010t0001g0169 a0004c0010t0001g0183	9	224	0.0402	-8	c.142 others(27): Show c.142-58686_142-58679delCACACACA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10223399	TTATATAT others(1): Show TTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00673.hp2 others(19): Show HG00544.hp2 HG00558.hp1 HG00673.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02148.hp1 HG02559.hp1 HG03098.hp2 NA18946.hp1 NA18951.hp2 NA18966.hp2 NA18969.hp2 NA18986.hp2 NA19005.hp1 NA19056.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0001c0018 others(1): Show a0001c0001 a0001c0007 a0001c0018 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0007t0016 a0001c0018t0001 a0003c0004t0003	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0002g0023 others(19): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0002g0023 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0176 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0031 a0001c0001t0003g0038 a0001c0001t0012g0001 a0001c0001t0013g0173 a0001c0001t0015g0108 a0001c0007t0016g0180 a0001c0018t0001g0050 a0003c0004t0003g0009 a0003c0004t0003g0011 a0003c0004t0003g0026 a0003c0004t0003g0028 a0003c0004t0003g0032 a0003c0004t0003g0052	22	224	0.0982	-8	c.56- others(25): Show c.56-29420_56-29413delTATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10254900	CAAAAAAA others(1): Show CAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02897.hp2 HG03130.hp2 others(2): Show HG01169.hp2 HG02897.hp2 HG03130.hp2 NA19030.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0097 a0001c0001t0002g0084 a0001c0001t0005g0171 others(2): Show a0001c0001t0001g0097 a0001c0001t0002g0084 a0001c0001t0005g0171 a0001c0001t0011g0223 a0001c0001t0011g0224	5	224	0.0223	-8	c.55+ others(25): Show c.55+39107_55+39114delTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10291657	AACACACA others(1): Show AACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp1 others(24): Show HG00280.hp2 HG00323.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01123.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG01975.hp1 HG01993.hp1 HG02602.hp1 HG02738.hp2 HG02965.hp1 HG03490.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp2 NA19240.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0009	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0005c0006 a0007c0008 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0002c0002t0004 a0003c0004t0003 a0005c0006t0002 a0007c0008t0005 a0009c0014t0002	a0001c0001t0001g0054 a0001c0001t0001g0168 a0001c0001t0002g0043 others(24): Show a0001c0001t0001g0054 a0001c0001t0001g0168 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0004g0053 a0001c0001t0004g0067 a0001c0001t0006g0007 a0002c0002t0004g0069 a0003c0004t0003g0182 a0005c0006t0002g0045 a0007c0008t0005g0062 a0007c0008t0005g0063 a0009c0014t0002g0071	27	224	0.1205	-8	c.55+ others(23): Show c.55+2350_55+2357delGTGTGTGT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK1_chr16_28287525_28328849	28321182	AACACACA others(1): Show AACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG01891.hp2 others(10): Show HG00544.hp1 HG00673.hp2 HG01891.hp2 HG02280.hp1 HG02976.hp1 HG03139.hp1 HG03471.hp2 NA18522.hp2 NA18956.hp2 NA18980.hp2 NA19005.hp2 NA19066.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0125 a0001c0001t0126 others(9): Show a0001c0001t0053 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0192	a0001c0001t0053g0216 a0001c0001t0053g0297 a0001c0001t0125g0020 others(10): Show a0001c0001t0053g0216 a0001c0001t0053g0297 a0001c0001t0125g0020 a0001c0001t0126g0071 a0001c0001t0127g0164 a0001c0001t0128g0202 a0001c0001t0129g0245 a0001c0001t0130g0003 a0001c0001t0131g0212 a0001c0001t0132g0161 a0001c0001t0133g0193 a0001c0001t0134g0190 a0001c0001t0192g0183	13	384	0.0339	-8	c.31 others(17): Show c.310_*317delACACACAC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	310	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28322923	TCTCTCTC others(1): Show TCTCTCTCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01255.hp1 others(7): Show HG00735.hp2 HG01081.hp2 HG01255.hp1 HG02523.hp1 HG02698.hp1 HG02809.hp2 HG03688.hp1 HG04228.hp2 NA18522.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0096 a0001c0001t0134 others(2): Show a0001c0001t0010 a0001c0001t0096 a0001c0001t0134 a0001c0001t0151 a0001c0001t0152	a0001c0001t0010g0015 a0001c0001t0010g0030 a0001c0001t0010g0274 others(6): Show a0001c0001t0010g0015 a0001c0001t0010g0030 a0001c0001t0010g0274 a0001c0001t0010g0283 a0001c0001t0010g0310 a0001c0001t0096g0221 a0001c0001t0134g0190 a0001c0001t0151g0295 a0001c0001t0152g0296	10	384	0.0260	-8	c.20 others(19): Show c.2010_*2017delCCTCTCTC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	2010	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28322931	CCTCTCTC others(1): Show CCTCTCTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00639.hp1 others(5): Show HG00280.hp1 HG00423.hp2 HG00639.hp1 HG01346.hp1 HG02273.hp2 HG02280.hp2 HG02809.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0066 a0001c0001t0072 others(4): Show a0001c0001t0038 a0001c0001t0066 a0001c0001t0072 a0001c0001t0091 a0001c0001t0098 a0001c0001t0111 a0001c0001t0150	a0001c0001t0038g0013 a0001c0001t0038g0314 a0001c0001t0066g0041 others(5): Show a0001c0001t0038g0013 a0001c0001t0038g0314 a0001c0001t0066g0041 a0001c0001t0072g0227 a0001c0001t0091g0198 a0001c0001t0098g0018 a0001c0001t0111g0003 a0001c0001t0150g0172	8	384	0.0208	-8	c.20 others(19): Show c.2052_*2059delTCTCTCTC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	2052	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBNO1_chr12_123284109_123369847	123311720	CTATATAT others(1): Show CTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03471.hp2 HG03491.hp2 others(7): Show HG02602.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG04199.hp1 NA18951.hp2 NA18977.hp1 NA19005.hp1 NA19057.hp2 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0007 a0001c0006 a0003c0007	a0001c0006t0010 a0001c0006t0011 a0003c0007t0008 others(2): Show a0001c0006t0010 a0001c0006t0011 a0003c0007t0008 a0003c0007t0039 a0003c0007t0042	a0001c0006t0010g0007 a0001c0006t0011g0023 a0003c0007t0008g0001 others(7): Show a0001c0006t0010g0007 a0001c0006t0011g0023 a0003c0007t0008g0001 a0003c0007t0008g0016 a0003c0007t0008g0017 a0003c0007t0008g0018 a0003c0007t0008g0020 a0003c0007t0008g0021 a0003c0007t0039g0005 a0003c0007t0042g0015	10	260	0.0385	-8	c.322 others(25): Show c.3221-599_3221-592delTATATATA	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	24/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123313201	AAAATAAA others(1): Show AAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01069.hp2 others(38): Show HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01175.hp2 HG01243.hp2 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02148.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03491.hp1 HG03516.hp1 HG03942.hp1 NA18747.hp1 NA18942.hp2 NA18957.hp2 NA19043.hp1 NA19055.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(22): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0056 a0001c0001t0084 a0001c0002t0003 a0001c0002t0022 a0001c0002t0034 a0001c0003t0019 a0001c0003t0066 a0001c0003t0067 a0001c0003t0071 a0001c0003t0073 a0001c0003t0076 a0001c0003t0077 a0001c0003t0078 a0001c0005t0025 a0001c0006t0010 a0001c0006t0011 a0001c0008t0024 a0002c0004t0002 a0002c0004t0020	a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0135 others(38): Show a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0004g0210 a0001c0001t0004g0214 a0001c0001t0007g0151 a0001c0001t0007g0215 a0001c0001t0013g0127 a0001c0001t0017g0185 a0001c0001t0018g0144 a0001c0001t0018g0194 a0001c0001t0056g0157 a0001c0001t0084g0150 a0001c0002t0003g0237 a0001c0002t0022g0256 a0001c0002t0034g0217 a0001c0002t0034g0218 a0001c0003t0019g0064 a0001c0003t0019g0065 a0001c0003t0019g0080 a0001c0003t0066g0069 a0001c0003t0067g0066 a0001c0003t0071g0067 a0001c0003t0073g0070 a0001c0003t0076g0071 a0001c0003t0077g0063 a0001c0003t0078g0077 a0001c0005t0025g0094 a0001c0006t0010g0007 a0001c0006t0011g0002 a0001c0006t0011g0003 a0001c0006t0011g0004 a0001c0008t0024g0100 a0001c0008t0024g0112 a0002c0004t0002g0054 a0002c0004t0020g0078 a0002c0004t0020g0091	41	260	0.1577	-8	c.322 others(25): Show c.3220+411_3220+418delATTTATTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	24/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123367335	CTTATTTA others(1): Show CTTATTTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01167.hp1 others(2): Show HG01070.hp1 HG01071.hp1 HG01167.hp1 HG02922.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0002c0004	a0001c0001t0058 a0001c0002t0085 a0001c0010t0061 others(2): Show a0001c0001t0058 a0001c0002t0085 a0001c0010t0061 a0002c0004t0002 a0002c0004t0031	a0001c0001t0058g0196 a0001c0002t0085g0209 a0001c0010t0061g0119 others(2): Show a0001c0001t0058g0196 a0001c0002t0085g0209 a0001c0010t0061g0119 a0002c0004t0002g0061 a0002c0004t0031g0060	5	260	0.0192	-8	c.-26 others(19): Show c.-2643_-2636delATAAATAA	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding		2489		chr12	TogoVar
SBNO2_chr19_1102638_1179268	1166617	GCACACAC others(1): Show GCACACACA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19080.hp1 HG00423.hp1 NA19080.hp1	a0001 a0001	a0001c0005 a0001c0013 a0001c0005 a0001c0013	a0001c0005t0001 a0001c0013t0001 a0001c0005t0001 a0001c0013t0001	a0001c0005t0001g0024 a0001c0013t0001g0080 a0001c0005t0001g0024 a0001c0013t0001g0080	2	203	0.0099	-8	c.-12 others(27): Show c.-127+7547_-127+7554delTGTGTGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBSPON_chr8_73059543_73098172	73084749	GACACACA others(1): Show GACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02132.hp1 HG02622.hp1 others(5): Show HG00423.hp2 HG02132.hp1 HG02622.hp1 HG03098.hp1 HG03130.hp2 NA18943.hp2 NA19003.hp2 NA19240.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0003 a0003c0005 others(2): Show a0001c0001 a0003c0003 a0003c0005 a0004c0004 a0006c0007	a0001c0001t0001 a0003c0003t0002 a0003c0003t0011 others(3): Show a0001c0001t0001 a0003c0003t0002 a0003c0003t0011 a0003c0005t0002 a0004c0004t0001 a0006c0007t0006	a0001c0001t0001g0226 a0003c0003t0002g0108 a0003c0003t0011g0107 others(4): Show a0001c0001t0001g0226 a0003c0003t0002g0108 a0003c0003t0011g0107 a0003c0005t0002g0303 a0004c0004t0001g0290 a0004c0004t0001g0322 a0006c0007t0006g0020	8	414	0.0193	-8	c.215 others(25): Show c.215-3544_215-3537delGTGTGTGT	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	1/4			chr8	TogoVar
SC5D_chr11_121287771_121318410	121314315	ATTTTTTT others(1): Show ATTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG00673.hp1 others(37): Show HG00438.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01081.hp1 HG01099.hp1 HG01175.hp1 HG01496.hp2 HG01978.hp1 HG02055.hp1 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02809.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03225.hp1 HG03486.hp2 HG03704.hp2 HG03834.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18945.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp1 NA18975.hp1 NA18986.hp2 NA18987.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19055.hp2 NA19062.hp1 NA19079.hp2 NA19090.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0002 a0001c0001 a0005c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0024 a0001c0001t0041 a0001c0001t0046 a0001c0001t0050 a0005c0002t0004	a0001c0001t0003g0003 a0001c0001t0004g0004 a0001c0001t0004g0009 others(12): Show a0001c0001t0003g0003 a0001c0001t0004g0004 a0001c0001t0004g0009 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0033 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0105 a0001c0001t0014g0010 a0001c0001t0024g0010 a0001c0001t0041g0099 a0001c0001t0046g0004 a0001c0001t0050g0004 a0005c0002t0004g0009	40	424	0.0943	-8	c.68 others(19): Show c.6804_*6811delTTTTTTTT	SC5D	ENSG00000109929.10	transcript	ENST00000264027.9	protein_coding		906		chr11	TogoVar
SCAF11_chr12_45914131_45995574	45972963	TATATATA others(1): Show TATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 NA18957.hp1 others(1): Show HG01167.hp2 HG01169.hp1 NA18957.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0003 a0001c0001t0003 a0001c0007t0003	a0001c0001t0003g0180 a0001c0001t0003g0188 a0001c0007t0003g0022 a0001c0001t0003g0180 a0001c0001t0003g0188 a0001c0007t0003g0022	4	344	0.0116	-8	c.-21 others(25): Show c.-21-8783_-21-8776delCTATATAT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF11_chr12_45914131_45995574	45973005	TATATATA others(1): Show TATATATAG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02602.hp2 NA18962.hp2 others(3): Show HG00673.hp2 HG02602.hp2 NA18962.hp2 NA19070.hp1 NA19082.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0001 a0001c0001t0003 a0001c0006t0001	a0001c0001t0003g0003 a0001c0001t0003g0173 a0001c0001t0003g0204 others(1): Show a0001c0001t0003g0003 a0001c0001t0003g0173 a0001c0001t0003g0204 a0001c0006t0001g0252	6	344	0.0174	-8	c.-21 others(25): Show c.-21-8825_-21-8818delCTATATAT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF1_chr19_49637209_49663642	49659984	TACACACA others(1): Show TACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01981.hp1 HG02080.hp2 others(10): Show HG01243.hp2 HG01981.hp1 HG02080.hp2 HG02145.hp2 HG03927.hp2 HG04199.hp1 NA18960.hp1 NA18969.hp2 NA18981.hp1 NA18989.hp2 NA18997.hp2 NA18998.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0003 a0001c0002t0001g0018 a0001c0002t0001g0019 others(8): Show a0001c0002t0001g0003 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0047 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0115 a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0095	13	382	0.0340	-8	c.15 others(19): Show c.1586_*1593delACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF4_chr21_31666000_31737118	31717866	CACACATA others(1): Show CACACATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp2 HG02809.hp1 others(6): Show HG01243.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG03471.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0017t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0106 others(6): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0106 a0001c0001t0001g0154 a0001c0002t0001g0146 a0001c0002t0001g0150 a0001c0002t0001g0202 a0001c0002t0002g0139 a0001c0017t0001g0147	9	352	0.0256	-8	c.31- others(25): Show c.31-11517_31-11510delATATGTGT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	1/19			chr21	TogoVar
SCAF4_chr21_31666000_31737118	31717880	TATATACA others(1): Show TATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02965.hp2 HG03130.hp2 others(2): Show HG02615.hp2 HG02965.hp2 HG03130.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0127 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130	5	352	0.0142	-8	c.31- others(25): Show c.31-11531_31-11524delGTGTATAT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	1/19			chr21	TogoVar
SCAF4_chr21_31666000_31737118	31717896	CACATATA others(1): Show CACATATAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0001 a0001c0002t0002 a0001c0017t0001 a0001c0002t0001 a0001c0002t0002 a0001c0017t0001	a0001c0002t0001g0146 a0001c0002t0001g0202 a0001c0002t0002g0139 others(1): Show a0001c0002t0001g0146 a0001c0002t0001g0202 a0001c0002t0002g0139 a0001c0017t0001g0147	4	352	0.0114	-8	c.31- others(25): Show c.31-11547_31-11540delATATATGT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	1/19			chr21	TogoVar
SCAF4_chr21_31666000_31737118	31717904	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03831.hp1 NA19055.hp2 others(1): Show HG00140.hp1 HG03831.hp1 NA19055.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0137 a0001c0001t0001g0238 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0137 a0001c0001t0001g0238 a0001c0001t0001g0251	4	352	0.0114	-8	c.31- others(25): Show c.31-11555_31-11548delGTGTGTGT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	1/19			chr21	TogoVar
SCAF4_chr21_31666000_31737118	31717940	CACACACA others(1): Show CACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG02976.hp1 others(1): Show HG02717.hp1 HG02922.hp2 HG02976.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0129 a0001c0001t0001g0178 a0001c0002t0001g0149 others(1): Show a0001c0001t0001g0129 a0001c0001t0001g0178 a0001c0002t0001g0149 a0001c0002t0001g0168	4	352	0.0114	-8	c.31- others(25): Show c.31-11591_31-11584delATGTGTGT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	1/19			chr21	TogoVar
SCAF8_chr6_154728416_154839221	154747896	CTGTGTGT others(1): Show CTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03017.hp1 HG03139.hp2 others(6): Show HG02145.hp1 HG03017.hp1 HG03139.hp2 HG03516.hp2 HG03942.hp1 HG04204.hp2 NA18522.hp1 NA18994.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0011 a0002c0004 others(1): Show a0001c0001 a0001c0011 a0002c0004 a0006c0009	a0001c0001t0001 a0001c0001t0005 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0011t0001 a0002c0004t0001 a0006c0009t0001	a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0005g0152 others(6): Show a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0005g0152 a0001c0001t0005g0196 a0001c0001t0005g0209 a0001c0011t0001g0208 a0002c0004t0001g0186 a0002c0004t0001g0188 a0006c0009t0001g0128	9	282	0.0319	-8	c.30+ others(25): Show c.30+14000_30+14007delGTGTGTGT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154779781	GTATATAT others(1): Show GTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01167.hp1 HG01433.hp1 others(18): Show HG00621.hp2 HG01167.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp2 HG01975.hp2 HG02055.hp1 HG02080.hp2 HG02258.hp1 HG02647.hp2 HG02965.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG06807.hp1 NA19043.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0001c0013 others(1): Show a0001c0001 a0001c0012 a0001c0013 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0012t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0012t0002 a0001c0013t0002 a0003c0003t0002	a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 others(18): Show a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0012t0002g0279 a0001c0013t0002g0106 a0003c0003t0002g0272	21	282	0.0745	-8	c.159 others(25): Show c.159+1749_159+1756delTATATATA	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154784120	GATATATA others(1): Show GATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp1 HG03098.hp2 others(2): Show HG02258.hp2 HG02630.hp1 HG03098.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 others(2): Show a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084	5	282	0.0177	-8	c.160 others(25): Show c.160-3710_160-3703delATATATAT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154794778	GGGGTGTG others(1): Show GGGGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp2 HG01167.hp1 others(8): Show HG00408.hp2 HG01074.hp2 HG01167.hp1 HG01975.hp2 HG02071.hp1 HG02257.hp2 HG03041.hp2 HG03195.hp1 HG03486.hp2 HG03704.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0132 a0001c0001t0001g0181 a0001c0001t0001g0194 others(8): Show a0001c0001t0001g0132 a0001c0001t0001g0181 a0001c0001t0001g0194 a0001c0001t0001g0226 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0006t0001g0223 a0001c0006t0001g0254	11	282	0.0390	-8	c.476 others(23): Show c.476-229_476-222delGGTGTGTG	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154799775	CTATTTAT others(1): Show CTATTTATT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03453.hp1 NA19043.hp1 HG03195.hp2 HG03453.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0272 a0003c0003t0002g0273 a0003c0003t0002g0274 a0003c0003t0002g0272 a0003c0003t0002g0273 a0003c0003t0002g0274	3	282	0.0106	-8	c.607 others(25): Show c.607-2177_607-2170delTTTATTTA	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154831703	TAAAAAAA others(1): Show TAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01433.hp2 HG02055.hp1 others(5): Show HG01361.hp2 HG01433.hp2 HG02055.hp1 HG02135.hp2 HG02896.hp1 HG02897.hp2 NA19043.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0001c0001t0001 a0001c0001t0002 a0003c0003t0002	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0246 others(5): Show a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0246 a0001c0001t0002g0014 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0275 a0003c0003t0002g0272	8	282	0.0284	-8	c.236 others(25): Show c.2360-204_2360-197delAAAAAAAA	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	124981867	ACTCTTGG others(1): Show ACTCTTGGC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02895.hp1 HG02897.hp1 others(2): Show HG01167.hp2 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0073 a0001c0003t0012 a0001c0003t0073	a0001c0003t0012g0204 a0001c0003t0012g0205 a0001c0003t0012g0208 others(2): Show a0001c0003t0012g0204 a0001c0003t0012g0205 a0001c0003t0012g0208 a0001c0003t0012g0209 a0001c0003t0073g0210	5	306	0.0163	-8	c.132 others(27): Show c.1327-5689_1327-5682delGCCAAGAG	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	14/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004734	CATATATA others(1): Show CATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG02083.hp2 others(7): Show HG00140.hp1 HG01069.hp2 HG02083.hp2 HG02486.hp1 HG02559.hp1 HG02723.hp2 HG03831.hp2 NA18995.hp1 NA19030.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0001t0050 a0001c0003t0004 others(4): Show a0001c0001t0010 a0001c0001t0050 a0001c0003t0004 a0001c0003t0033 a0001c0003t0034 a0001c0003t0048 a0001c0003t0069	a0001c0001t0010g0211 a0001c0001t0010g0216 a0001c0001t0050g0179 others(7): Show a0001c0001t0010g0211 a0001c0001t0010g0216 a0001c0001t0050g0179 a0001c0003t0004g0072 a0001c0003t0004g0073 a0001c0003t0004g0124 a0001c0003t0033g0054 a0001c0003t0034g0184 a0001c0003t0048g0029 a0001c0003t0069g0090	10	306	0.0327	-8	c.862 others(25): Show c.862-1172_862-1165delATATATAT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125077710	CATTTATT others(1): Show CATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02895.hp1 HG02897.hp1 others(4): Show HG01167.hp2 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03540.hp2 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0056 a0001c0001t0060 a0001c0003t0012 others(1): Show a0001c0001t0056 a0001c0001t0060 a0001c0003t0012 a0001c0003t0073	a0001c0001t0056g0206 a0001c0001t0060g0207 a0001c0003t0012g0204 others(4): Show a0001c0001t0056g0206 a0001c0001t0060g0207 a0001c0003t0012g0204 a0001c0003t0012g0205 a0001c0003t0012g0208 a0001c0003t0012g0209 a0001c0003t0073g0210	7	306	0.0229	-8	c.99- others(25): Show c.99-21711_99-21704delAAATAAAT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar

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