Joint Open Genome and Omics Platform (JoGo)

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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
SNAPC1_chr14_61757420_61801428	61786530	TGAAAAGA others(16): Show TGAAAAGATGCTCTGCATCTTTAG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03579.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0148 a0001c0001t0003g0128 a0001c0001t0002g0148 a0001c0001t0003g0128	2	354	0.0056	-23	c.976 others(40): Show c.976+4134_976+4156delGAAAAGATGCTCTGCATCTTTAG	SNAPC1	ENSG00000023608.5	transcript	ENST00000216294.5	protein_coding	8/9			chr14	TogoVar
SNCAIP_chr5_122307237_122469219	122358112	CTAAACAG others(16): Show CTAAACAGAGTTAATTTTCAGGAT	C C	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	220	0.0045	-23	c.-46 others(42): Show c.-46-32976_-46-32954delTAAACAGAGTTAATTTTCAGGAT	SNCAIP	ENSG00000064692.20	transcript	ENST00000261368.13	protein_coding	1/10			chr5	TogoVar
SNRNP25_chr16_48828_62669	52446	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01517.hp1 HG02040.hp1 others(30): Show HG01192.hp1 HG01517.hp1 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02559.hp2 HG02698.hp2 HG02717.hp2 HG03130.hp1 HG03486.hp1 NA18906.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA19002.hp1 NA19006.hp2 NA19010.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0003c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0002g0002 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0002g0002 a0001c0001t0004g0024 a0003c0006t0003g0029	33	54	0.6111	-23	c.-15 others(34): Show c.-1570_-1548delAAAAAAAAAAAAAAAAAAAAAAA	SNRNP25	ENSG00000161981.11	transcript	ENST00000293861.8	protein_coding		1381		chr16	TogoVar
SNRPE_chr1_203856599_203876152	203869289	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	6	0.1667	-23	c.224 others(38): Show c.224-576_224-554delTTTTTTTTTTTTTTTTTTTTTTT	SNRPE	ENSG00000182004.13	transcript	ENST00000414487.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNTB1_chr8_120530756_120817046	120549903	CAGAAAGC others(16): Show CAGAAAGCAACACTTTACAATTTA	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	252	0.0040	-23	c.113 others(40): Show c.1137-968_1137-946delTAAATTGTAAAGTGTTGCTTTCT	SNTB1	ENSG00000172164.15	transcript	ENST00000517992.2	protein_coding	4/6			chr8	TogoVar
SNTB2_chr16_69182164_69314052	69292405	TATTATAT others(16): Show TATTATATATATATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00609.hp1 others(13): Show HG00408.hp1 HG00597.hp1 HG00609.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG02015.hp1 NA18968.hp1 NA18973.hp2 NA18983.hp2 NA19010.hp1 NA19060.hp1 NA19064.hp1 NA19077.hp1 NA19084.hp1 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0022 a0003c0004t0001 a0001c0001t0001 a0001c0001t0022 a0003c0004t0001	a0001c0001t0001g0124 a0001c0001t0001g0162 a0001c0001t0001g0182 others(13): Show a0001c0001t0001g0124 a0001c0001t0001g0162 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0022g0195 a0001c0001t0022g0196 a0003c0004t0001g0192	16	216	0.0741	-23	c.134 others(42): Show c.1346-7184_1346-7162delATTATATATATATTATATATATA	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6			chr16	TogoVar
SNTB2_chr16_69182164_69314052	69310070	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01361.hp2 HG01891.hp2 others(9): Show HG01346.hp2 HG01361.hp2 HG01891.hp2 HG02630.hp1 HG03579.hp2 HG04199.hp2 HG06807.hp2 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA19007.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 a0001c0003t0005	a0001c0001t0001g0180 a0001c0001t0005g0120 a0001c0001t0005g0147 others(9): Show a0001c0001t0001g0180 a0001c0001t0005g0120 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0208 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0025g0152 a0001c0003t0005g0209 a0001c0003t0005g0214 a0001c0003t0005g0215	12	30	0.4000	-23	c.91 others(34): Show c.9147_*9169delTTTTTTTTTTTTTTTTTTTTTTT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding		1019		chr16	TogoVar
SNTG1_chr8_49906407_50801692	50259509	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG03453.hp1 others(1): Show HG02886.hp1 HG03098.hp2 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0002t0044	a0001c0001t0004g0072 a0001c0001t0008g0071 a0001c0001t0015g0001 others(1): Show a0001c0001t0004g0072 a0001c0001t0008g0071 a0001c0001t0015g0001 a0001c0002t0044g0047	4	98	0.0408	-23	c.-28 others(42): Show c.-28+86877_-28+86899delGAAAGAAAGAAAGAAAGAAAGAA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50287496	ACAAGCAC others(16): Show ACAAGCACAAAGGTGCCCTGGGGT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG06807.hp1 NA21309.hp2 HG03490.hp2 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0021 a0001c0002t0025 a0001c0001t0012 a0001c0002t0021 a0001c0002t0025	a0001c0001t0012g0049 a0001c0002t0021g0073 a0001c0002t0025g0090 a0001c0001t0012g0049 a0001c0002t0021g0073 a0001c0002t0025g0090	3	106	0.0283	-23	c.-27 others(44): Show c.-27-106709_-27-106687delCAAAGGTGCCCTGGGGTCAAGCA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1279054	CACCCCTC others(16): Show CACCCCTCTGTCAGTGCGCGAATG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(40): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG01081.hp2 HG01106.hp2 HG01256.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01975.hp1 HG02015.hp1 HG02071.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp2 HG02293.hp1 HG02486.hp1 HG02602.hp1 HG02615.hp1 HG02735.hp2 HG02738.hp2 HG02970.hp1 HG03017.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18942.hp1 NA18943.hp2 NA18963.hp1 NA18969.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA19084.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0014 a0018 a0020	a0001c0001 a0002c0003 a0002c0005 others(7): Show a0001c0001 a0002c0003 a0002c0005 a0002c0022 a0003c0007 a0003c0026 a0006c0009 a0014c0032 a0018c0035 a0020c0021	a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 others(8): Show a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 a0002c0022t0001 a0003c0007t0001 a0003c0007t0002 a0003c0026t0001 a0006c0009t0001 a0014c0032t0001 a0018c0035t0001 a0020c0021t0001	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0027 others(40): Show a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0178 a0002c0003t0001g0015 a0002c0003t0001g0029 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0064 a0002c0003t0001g0089 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0108 a0002c0003t0001g0122 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0005t0001g0013 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0107 a0002c0005t0001g0121 a0002c0005t0001g0156 a0002c0005t0001g0164 a0002c0005t0001g0168 a0002c0022t0001g0155 a0003c0007t0001g0007 a0003c0007t0001g0080 a0003c0007t0001g0104 a0003c0007t0002g0075 a0003c0007t0002g0077 a0003c0026t0001g0097 a0006c0009t0001g0162 a0014c0032t0001g0062 a0018c0035t0001g0071 a0020c0021t0001g0119	43	188	0.2287	-23	c.128 others(44): Show c.1284+11506_1284+11528delGACCCCTCTGTCAGTGCGCGAAT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX20_chr16_50666629_50686312	50683845	TGGCCTGC others(16): Show TGGCCTGCTAGCTGGGGCACCCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	414	0.0024	-23	c.-26 others(34): Show c.-2688_-2666delCGGGGTGCCCCAGCTAGCAGGCC	SNX20	ENSG00000167208.16	transcript	ENST00000330943.9	protein_coding		2534		chr16	TogoVar
SNX27_chr1_151607050_151704080	151676270	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02559.hp2 others(6): Show HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02647.hp1 HG02818.hp2 HG03453.hp2 HG03579.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 others(2): Show a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0038 a0001c0001t0084	a0001c0001t0015g0353 a0001c0001t0016g0105 a0001c0001t0016g0108 others(6): Show a0001c0001t0015g0353 a0001c0001t0016g0105 a0001c0001t0016g0108 a0001c0001t0016g0110 a0001c0001t0016g0113 a0001c0001t0019g0330 a0001c0001t0038g0109 a0001c0001t0038g0111 a0001c0001t0084g0107	9	10	0.9000	-23	c.115 others(42): Show c.1150-7055_1150-7033delTTTTTTTTTTTTTTTTTTTTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12461973	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0015 a0001c0001t0040g0015	1	169	0.0059	-23	c.203 others(44): Show c.2038-15744_2038-15722delAAAAATATATATATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12476378	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0002 a0006c0017t0002	a0006c0017t0002g0024 a0006c0017t0002g0024	1	169	0.0059	-23	c.203 others(42): Show c.2038-1339_2038-1317delAAAAATATATATATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12512395	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02015.hp2 HG02523.hp1 others(7): Show HG01261.hp2 HG02015.hp2 HG02523.hp1 HG03209.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA19009.hp2 NA19070.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0018 a0001c0021	a0001c0001t0008 a0001c0001t0034 a0001c0002t0024 others(7): Show a0001c0001t0008 a0001c0001t0034 a0001c0002t0024 a0001c0003t0016 a0001c0003t0100 a0001c0003t0102 a0001c0004t0005 a0001c0004t0090 a0001c0018t0008 a0001c0021t0109	a0001c0001t0008g0175 a0001c0001t0034g0030 a0001c0002t0024g0050 others(7): Show a0001c0001t0008g0175 a0001c0001t0034g0030 a0001c0002t0024g0050 a0001c0003t0016g0005 a0001c0003t0100g0154 a0001c0003t0102g0080 a0001c0004t0005g0171 a0001c0004t0090g0102 a0001c0018t0008g0057 a0001c0021t0109g0035	10	173	0.0578	-23	c.217 others(44): Show c.2179-12306_2179-12284delATATATATATATATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	19/20			chr16	TogoVar
SNX7_chr1_98656721_98765500	98663252	GGTTTTTT others(16): Show GGTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18989.hp2 NA19058.hp1 others(3): Show NA18959.hp2 NA18989.hp2 NA19058.hp1 NA19064.hp1 NA19070.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0050 a0002c0003t0001g0132 a0002c0003t0001g0133 others(3): Show a0001c0001t0001g0050 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0135 a0002c0003t0001g0144 a0002c0003t0001g0156	6	16	0.3750	-23	c.180 others(40): Show c.180+1342_180+1364delGTTTTTTTTTTTTTTTTTTTTTT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding	1/8			chr1	TogoVar
SNX8_chr7_2246770_2319441	2317251	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01192.hp1 HG02622.hp1 others(1): Show HG01109.hp1 HG01192.hp1 HG02622.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0004t0005	a0001c0001t0003g0140 a0001c0001t0005g0013 a0001c0001t0008g0268 others(1): Show a0001c0001t0003g0140 a0001c0001t0005g0013 a0001c0001t0008g0268 a0002c0004t0005g0004	4	14	0.2857	-23	c.-28 others(34): Show c.-2853_-2831delAAAAAAAAAAAAAAAAAAAAAAA	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding		2811		chr7	TogoVar
SOAT1_chr1_179288797_179363680	179344352	GGTTTTTT others(16): Show GGTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01070.hp1 others(43): Show HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01433.hp1 HG01496.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp2 NA18979.hp1 NA18989.hp1 NA18991.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19079.hp2 NA20805.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0007 a0008	a0001c0004 a0001c0005 a0001c0013 others(5): Show a0001c0004 a0001c0005 a0001c0013 a0001c0014 a0003c0020 a0005c0010 a0007c0018 a0008c0019	a0001c0004t0011 a0001c0004t0012 a0001c0004t0016 others(22): Show a0001c0004t0011 a0001c0004t0012 a0001c0004t0016 a0001c0004t0017 a0001c0004t0022 a0001c0004t0026 a0001c0004t0030 a0001c0004t0035 a0001c0004t0040 a0001c0004t0041 a0001c0004t0042 a0001c0004t0046 a0001c0004t0064 a0001c0004t0065 a0001c0004t0066 a0001c0004t0077 a0001c0005t0007 a0001c0013t0017 a0001c0013t0067 a0001c0014t0045 a0003c0020t0030 a0005c0010t0022 a0005c0010t0035 a0007c0018t0022 a0008c0019t0007	a0001c0004t0011g0138 a0001c0004t0011g0140 a0001c0004t0011g0141 others(42): Show a0001c0004t0011g0138 a0001c0004t0011g0140 a0001c0004t0011g0141 a0001c0004t0011g0142 a0001c0004t0011g0231 a0001c0004t0011g0245 a0001c0004t0012g0002 a0001c0004t0012g0078 a0001c0004t0016g0246 a0001c0004t0016g0248 a0001c0004t0017g0080 a0001c0004t0017g0081 a0001c0004t0017g0082 a0001c0004t0022g0360 a0001c0004t0026g0002 a0001c0004t0026g0077 a0001c0004t0030g0244 a0001c0004t0035g0361 a0001c0004t0040g0146 a0001c0004t0041g0002 a0001c0004t0042g0079 a0001c0004t0046g0145 a0001c0004t0064g0139 a0001c0004t0065g0143 a0001c0004t0066g0144 a0001c0004t0077g0362 a0001c0005t0007g0009 a0001c0005t0007g0334 a0001c0005t0007g0343 a0001c0005t0007g0345 a0001c0005t0007g0346 a0001c0005t0007g0348 a0001c0005t0007g0349 a0001c0005t0007g0351 a0001c0005t0007g0353 a0001c0005t0007g0354 a0001c0005t0007g0356 a0001c0013t0017g0335 a0001c0013t0067g0266 a0001c0014t0045g0155 a0003c0020t0030g0023 a0005c0010t0022g0363 a0005c0010t0035g0365 a0007c0018t0022g0364 a0008c0019t0007g0344	46	54	0.8519	-23	c.988 others(38): Show c.988-594_988-572delGTTTTTTTTTTTTTTTTTTTTTT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	10/15			chr1	TogoVar
SON_chr21_33538038_33582481	33577666	CACACACA others(16): Show CACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0200 a0002c0003t0001g0200	1	352	0.0028	-23	c.12 others(34): Show c.1243_*1265delACACACACACACACACACACACA	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		186		chr21	TogoVar
SON_chr21_33538038_33582481	33577679	ACACACAC others(16): Show ACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	362	0.0028	-23	c.12 others(34): Show c.1256_*1278delCACACACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		199		chr21	TogoVar
SORBS2_chr4_185580523_185817194	185791238	AATATGGG others(16): Show AATATGGGCAATACATTTATGAAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02145.hp1 HG02615.hp2 others(1): Show HG00735.hp1 HG02145.hp1 HG02615.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0010 a0001c0001t0011 a0001c0001t0057 others(1): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0057 a0001c0013t0007	a0001c0001t0010g0106 a0001c0001t0011g0032 a0001c0001t0057g0035 others(1): Show a0001c0001t0010g0106 a0001c0001t0011g0032 a0001c0001t0057g0035 a0001c0013t0007g0093	4	310	0.0129	-23	c.-23 others(44): Show c.-236-15895_-236-15873delATTCATAAATGTATTGCCCATAT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7294491	CTGCCCCA others(16): Show CTGCCCCAGGGAGCTCCTCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02258.hp1 HG02300.hp2 others(4): Show HG01167.hp1 HG02258.hp1 HG02300.hp2 HG02922.hp1 HG03139.hp2 HG03540.hp2 HG03579.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0015	a0001c0002 a0001c0003 a0001c0009 others(4): Show a0001c0002 a0001c0003 a0001c0009 a0001c0028 a0003c0013 a0005c0018 a0015c0054	a0001c0002t0001 a0001c0003t0016 a0001c0009t0037 others(4): Show a0001c0002t0001 a0001c0003t0016 a0001c0009t0037 a0001c0028t0027 a0003c0013t0018 a0005c0018t0043 a0015c0054t0020	a0001c0002t0001g0123 a0001c0003t0016g0023 a0001c0009t0037g0042 others(4): Show a0001c0002t0001g0123 a0001c0003t0016g0023 a0001c0009t0037g0042 a0001c0028t0027g0152 a0003c0013t0018g0100 a0005c0018t0043g0145 a0015c0054t0020g0113	7	168	0.0417	-23	c.480 others(44): Show c.480+101399_480+101421delAGCTCCTCCTCCATGCCCCAGGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403981	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0161 a0001c0001t0058g0161	1	162	0.0062	-23	c.548 others(40): Show c.548+7628_548+7650delATATATATATATATATTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7514533	TGGTTATA others(16): Show TGGTTATAGAGTCATGGCAGGGCA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0056 a0005c0021t0056	a0005c0021t0056g0103 a0005c0021t0056g0103	1	168	0.0060	-23	c.549 others(42): Show c.549-16995_549-16973delGTTATAGAGTCATGGCAGGGCAG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01515.hp1 HG03098.hp1 others(1): Show HG01175.hp2 HG01515.hp1 HG03098.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0015t0002 a0001c0001t0001 a0001c0001t0002 a0001c0015t0002	a0001c0001t0001g0106 a0001c0001t0001g0124 a0001c0001t0002g0133 others(1): Show a0001c0001t0001g0106 a0001c0001t0001g0124 a0001c0001t0002g0133 a0001c0015t0002g0130	4	24	0.1667	-23	c.627 others(42): Show c.627+42857_627+42879delTTTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOWAHB_chr4_76889152_76903144	76900844	AAAAAAAA others(16): Show AAAAAAAACAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01168.hp1 others(14): Show HG00280.hp2 HG00639.hp2 HG01168.hp1 HG01261.hp2 HG01496.hp1 HG02109.hp2 HG02280.hp2 HG02615.hp1 HG02698.hp2 HG02818.hp2 HG03017.hp1 HG03688.hp1 HG03942.hp1 HG04204.hp2 NA19043.hp2 NA19062.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0009c0018	a0001c0001t0005 a0002c0002t0003 a0004c0004t0005 others(2): Show a0001c0001t0005 a0002c0002t0003 a0004c0004t0005 a0004c0004t0017 a0009c0018t0005	a0001c0001t0005g0000 a0002c0002t0003g0000 a0004c0004t0005g0000 others(2): Show a0001c0001t0005g0000 a0002c0002t0003g0000 a0004c0004t0005g0000 a0004c0004t0017g0000 a0009c0018t0005g0000	17	436	0.0390	-23	c.-30 others(34): Show c.-3018_-2996delGTTTTTTTTTTTTTTGTTTTTTT	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding		2701		chr4	TogoVar
SOX11_chr2_5687384_5706385	5699665	AAAATTTA others(16): Show AAAATTTATGAAACTGAGCTCTCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0000 a0001c0001t0065g0000	1	432	0.0023	-23	c.56 others(34): Show c.5619_*5641delAAATTTATGAAACTGAGCTCTCT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding	1/1	5619		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706208	GGGAGGCC others(16): Show GGGAGGCCAGGGTGGAGGAGTTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	-23	c.12 others(36): Show c.12162_*12184delGGAGGCCAGGGTGGAGGAGTTGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4824		chr2	TogoVar
SOX12_chr20_320552_335224	332270	TTTCCACA others(16): Show TTTCCACAGTGCTCCCAAGCCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG03490.hp2 HG03492.hp2 others(1): Show HG01167.hp2 HG03490.hp2 HG03492.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	398	0.0101	-23	c.53 others(34): Show c.5399_*5421delTTCCACAGTGCTCCCAAGCCTGC	SOX12	ENSG00000177732.9	transcript	ENST00000342665.5	protein_coding		2047		chr20	TogoVar
SOX2_chr3_181706925_181719436	181715432	GGTTTTTT others(16): Show GGTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	409	0.0024	-23	c.21 others(34): Show c.2119_*2141delGTTTTTTTTTTTTTTTTTTTTTT	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		997		chr3	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG03139.hp1 NA19065.hp2 HG01978.hp1 HG03139.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0001g0000 a0001c0001t0004g0000	3	8	0.3750	-23	c.21 others(34): Show c.2120_*2142delTTTTTTTTTTTTTTTTTTTTTTT	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		998		chr3	TogoVar
SOX5_chr12_23524504_23954670	23570923	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG03130.hp2 others(2): Show HG02647.hp2 HG02965.hp2 HG03130.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0042 a0001c0001t0003 a0001c0001t0004 a0001c0001t0042	a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0208 others(2): Show a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0208 a0001c0001t0004g0148 a0001c0001t0042g0077	5	204	0.0245	-23	c.134 others(42): Show c.1342+4715_1342+4737delATATATATATATATATTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570925	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02970.hp2 NA19010.hp1 HG00597.hp1 HG02970.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0001t0121 a0001c0002t0005 a0001c0001t0041 a0001c0001t0121 a0001c0002t0005	a0001c0001t0041g0010 a0001c0001t0121g0186 a0001c0002t0005g0125 a0001c0001t0041g0010 a0001c0001t0121g0186 a0001c0002t0005g0125	3	195	0.0154	-23	c.134 others(42): Show c.1342+4713_1342+4735delATATATATATATATATATTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570929	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03704.hp1 HG03225.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0054 a0001c0001t0029 a0001c0001t0054	a0001c0001t0029g0027 a0001c0001t0054g0154 a0001c0001t0029g0027 a0001c0001t0054g0154	2	204	0.0098	-23	c.134 others(42): Show c.1342+4709_1342+4731delATATATATATATATATATATATT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570931	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18957.hp1 NA19003.hp1 others(2): Show HG03491.hp1 NA18957.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0033 a0001c0001t0037 others(2): Show a0001c0001t0019 a0001c0001t0033 a0001c0001t0037 a0001c0001t0040 a0001c0001t0108	a0001c0001t0019g0075 a0001c0001t0033g0065 a0001c0001t0037g0081 others(2): Show a0001c0001t0019g0075 a0001c0001t0033g0065 a0001c0001t0037g0081 a0001c0001t0040g0046 a0001c0001t0108g0050	5	150	0.0333	-23	c.134 others(42): Show c.1342+4707_1342+4729delATATATATATATATATATATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16132421	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18991.hp2 HG02258.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0107 a0001c0001t0003g0032 a0001c0001t0002g0107 a0001c0001t0003g0032	2	210	0.0095	-23	c.778 others(42): Show c.778-20521_778-20499delTTTCTTTCTTTCTTTCTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX8_chr16_976770_991979	978105	ACACACCA others(16): Show ACACACCACACACCATACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	-23	c.-38 others(34): Show c.-3817_-3795delCACACCACACACCATACACACAC	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		3664		chr16	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0054 a0001c0001t0008g0054	1	2	0.5000	-23	c.205 others(40): Show c.2053-615_2053-593delTTTTTTTTTTTTTTTTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP4_chr7_21423083_21519822	21510361	TAGTTAAC others(16): Show TAGTTAACATTAAACTAGCTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG03098.hp2 others(4): Show HG02055.hp1 HG02630.hp1 HG03098.hp2 HG03453.hp1 HG03516.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 others(2): Show a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0048 a0001c0001t0050	a0001c0001t0019g0247 a0001c0001t0019g0248 a0001c0001t0023g0244 others(4): Show a0001c0001t0019g0247 a0001c0001t0019g0248 a0001c0001t0023g0244 a0001c0001t0023g0245 a0001c0001t0024g0339 a0001c0001t0048g0246 a0001c0001t0050g0337	7	424	0.0165	-23	c.210 others(40): Show c.2108-660_2108-638delAGTTAACATTAAACTAGCTTTTA	SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding	5/5			chr7	TogoVar
SPACA4_chr19_48601742_48612714	48602705	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02723.hp2 HG03098.hp2 HG02647.hp2 HG02723.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	267	0.0112	-23	c.-42 others(34): Show c.-4273_-4251delTATATATATATATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4036		chr19	TogoVar
SPACA7_chr13_112371355_112439689	112383175	AAGAAAGA others(16): Show AAGAAAGAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp2 HG03195.hp2 others(1): Show HG01243.hp1 HG02970.hp2 HG03195.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 others(1): Show a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271	4	390	0.0103	-23	c.94+ others(38): Show c.94+6698_94+6720delGAAAGAAAGAAAGAAAGAAAAGA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG16_chr2_213279464_214415501	213342329	GTATATAT others(16): Show GTATATATATATTACATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01256.hp1 HG01361.hp1 others(9): Show HG00673.hp1 HG01256.hp1 HG01361.hp1 HG01516.hp1 HG02293.hp2 HG03831.hp2 NA18968.hp1 NA18977.hp1 NA18992.hp1 NA19000.hp2 NA19086.hp2 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0030 a0001c0001t0001g0042 a0002c0002t0001g0049 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0042 a0002c0002t0001g0049 a0002c0002t0001g0076 a0003c0003t0001g0026 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0040 a0003c0003t0001g0045 a0003c0003t0001g0047	12	86	0.1395	-23	c.644 others(40): Show c.644+2069_644+2091delATTACATATATGTATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214261107	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01891.hp1 HG01361.hp2 HG01891.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0068 a0004c0004t0001g0020 a0001c0001t0001g0068 a0004c0004t0001g0020	2	47	0.0426	-23	c.172 others(46): Show c.1720+111865_1720+111887delAAAAAAAAAAAAAAAAAAAAAA A	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPARCL1_chr4_87468335_87534376	87506759	TATCTATA others(16): Show TATCTATATCTCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0108 a0003c0004t0003g0108	1	388	0.0026	-23	c.-11 others(40): Show c.-11-7197_-11-7175delGATAGATAGATAGAGATATAGAT	SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	1/10			chr4	TogoVar
SPARCL1_chr4_87468335_87534376	87506766	ATCTCTAT others(16): Show ATCTCTATCTATCTATCATCTATC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01261.hp2 HG03239.hp1 HG01099.hp1 HG01261.hp2 HG03239.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0001 a0003c0004t0003 a0003c0004t0006 a0002c0001t0001 a0003c0004t0003 a0003c0004t0006	a0002c0001t0001g0121 a0003c0004t0003g0135 a0003c0004t0006g0344 a0002c0001t0001g0121 a0003c0004t0003g0135 a0003c0004t0006g0344	3	358	0.0084	-23	c.-11 others(40): Show c.-11-7204_-11-7182delGATAGATGATAGATAGATAGAGA	SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	1/10			chr4	TogoVar
SPARCL1_chr4_87468335_87534376	87506768	CTCTATCT others(16): Show CTCTATCTATCTATCATCTATCTA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01516.hp2 HG02055.hp1 others(11): Show HG01099.hp2 HG01516.hp2 HG02055.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02970.hp1 HG03516.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04204.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0001c0002t0001 a0002c0001t0001 a0002c0001t0002	a0001c0002t0001g0248 a0002c0001t0001g0007 a0002c0001t0001g0069 others(10): Show a0001c0002t0001g0248 a0002c0001t0001g0007 a0002c0001t0001g0069 a0002c0001t0001g0070 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0078 a0002c0001t0001g0169 a0002c0001t0001g0170 a0002c0001t0002g0262 a0002c0001t0002g0283 a0002c0001t0002g0303 a0002c0001t0002g0316	14	237	0.0591	-23	c.-11 others(40): Show c.-11-7206_-11-7184delTAGATAGATGATAGATAGATAGA	SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	1/10			chr4	TogoVar
SPAST_chr2_32058556_32162637	32083731	CTATATAT others(16): Show CTATATATATTTATATATACTATA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA20905.hp2 HG03831.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0023 a0001c0001t0003g0013 a0001c0001t0003g0023	2	319	0.0063	-23	c.416 others(40): Show c.416-3751_416-3729delTTATATATACTATATATATATAT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA16_chr3_172884357_173146235	172961062	TCTTCTTT others(16): Show TCTTCTTTCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp2 HG02622.hp2 HG03471.hp2	a0009 a0010 a0009 a0010	a0009c0018 a0010c0011 a0009c0018 a0010c0011	a0009c0018t0003 a0010c0011t0003 a0009c0018t0003 a0010c0011t0003	a0009c0018t0003g0179 a0010c0011t0003g0009 a0009c0018t0003g0179 a0010c0011t0003g0009	2	197	0.0102	-23	c.934 others(40): Show c.934-4261_934-4239delGAAGGAAGGAAGGAAGAAAGAAG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	5/10			chr3	TogoVar
SPATA17_chr1_217626344_217876696	217671083	ATGGGGAT others(16): Show ATGGGGATGCCCCACTTTTTTACC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	250	0.0040	-23	c.291 others(40): Show c.291+2002_291+2024delGGGGATGCCCCACTTTTTTACCT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA18_chr4_52046304_52102299	52097995	TCAGAATA others(16): Show TCAGAATAAGATTCTGTCCTGTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	306	0.0033	-23	c.31 others(34): Show c.3109_*3131delCAGAATAAGATTCTGTCCTGTTC	SPATA18	ENSG00000163071.11	transcript	ENST00000295213.9	protein_coding		697		chr4	TogoVar

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