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
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(43): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02145.hp2 HG02602.hp1 others(9): Show HG01928.hp2 HG02145.hp2 HG02602.hp1 HG02622.hp1 HG02735.hp1 HG02735.hp2 HG02976.hp2 HG03654.hp1 HG03704.hp1 NA18961.hp1 NA18991.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0038 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0132 a0001c0001t0002g0017 a0001c0001t0002g0126 a0001c0001t0003g0006 a0001c0001t0003g0022 a0001c0001t0003g0039	12	380	0.0316	-50	c.17 others(61): Show c.1736_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMOC2_chr6_168436184_168672992	168560622	GCATTCTT others(43): Show GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA C	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18990.hp2 HG00609.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0143 a0001c0001t0001g0158	2	180	0.0111	-50	c.637 others(69): Show c.637+11420_637+11469delCATTCTTGGAGGAGGTGTCATTTTCA TACCCTGAGACACGAGGCTCTCAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560882	GCATTCTT others(43): Show GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA C	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	180	0.0056	-50	c.637 others(69): Show c.637+11680_637+11729delCATTCTTGGAGGAGGTGTCATTTTCA TACCCTGAGACACGAGGCTCTCAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561974	GCATTCTT others(43): Show GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCTCTCA C	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02129.hp1 others(7): Show HG01243.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02738.hp2 HG03490.hp1 NA18941.hp2 NA18963.hp1 NA19000.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0003t0001 a0001c0004t0005 a0001c0013t0002	a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0002t0002g0021 others(7): Show a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0002t0002g0021 a0001c0002t0002g0055 a0001c0002t0002g0065 a0001c0002t0002g0180 a0001c0002t0008g0047 a0001c0003t0001g0155 a0001c0004t0005g0051 a0001c0013t0002g0033	10	180	0.0556	-50	c.637 others(69): Show c.637+12772_637+12821delCATTCTTGGAGGAGGTGTCATTTTCA TACCCTGAGACACAAGGCTCTCAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMURF1_chr7_99022440_99149108	99063237	TTATTTAT others(43): Show TTATTTATATATATATATATATATATATATATATATATATATATATATAT A	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG03471.hp2 others(2): Show HG02809.hp1 HG02896.hp2 HG03471.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0026 a0001c0001t0003 a0001c0001t0015 a0001c0001t0026	a0001c0001t0003g0012 a0001c0001t0003g0115 a0001c0001t0003g0165 others(2): Show a0001c0001t0003g0012 a0001c0001t0003g0115 a0001c0001t0003g0165 a0001c0001t0015g0214 a0001c0001t0026g0014	5	264	0.0189	-50	c.56- others(65): Show c.56-1450_56-1401delTATATATATATATATATATATATATATATA TATATATATATATATAAATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD1_chr2_88062825_88118384	88065222	CCCCCTCC others(43): Show CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02647.hp1 others(4): Show HG02280.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG03209.hp2 HG03491.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0014 a0002c0006 others(1): Show a0001c0003 a0001c0014 a0002c0006 a0002c0010	a0001c0003t0004 a0001c0014t0006 a0002c0006t0001 others(1): Show a0001c0003t0004 a0001c0014t0006 a0002c0006t0001 a0002c0010t0002	a0001c0003t0004g0286 a0001c0014t0006g0027 a0001c0014t0006g0290 others(3): Show a0001c0003t0004g0286 a0001c0014t0006g0027 a0001c0014t0006g0290 a0002c0006t0001g0295 a0002c0006t0001g0296 a0002c0010t0002g0287	7	338	0.0207	-50	c.-26 others(61): Show c.-2642_-2593delCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCCTCCCCTCCCCT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2602		chr2	TogoVar
SMYD3_chr1_245744347_246512279	246484285	GCACTAGT others(43): Show GCACTAGTTACACCTAAAAACACATCACTTCAACCAAAATACCTAAACCA C	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	150	0.0067	-50	c.164 others(69): Show c.164+22719_164+22768delGTGGTTTAGGTATTTTGGTTGAAGTG ATGTGTTTTTAGGTGTAACTAGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNPH_chr20_1261294_1314327	1278046	CTGTGTGT others(43): Show CTGTGTGTGTGTGTCTGTGTGTGTATCTGTGTGTGTCTCTGTGTGTGCCT A	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02572.hp2 others(2): Show HG02258.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0041 a0001c0002t0005 others(2): Show a0001c0001t0011 a0001c0001t0041 a0001c0002t0005 a0001c0002t0016 a0001c0002t0040	a0001c0001t0011g0033 a0001c0001t0041g0035 a0001c0002t0005g0038 others(2): Show a0001c0001t0011g0033 a0001c0001t0041g0035 a0001c0002t0005g0038 a0001c0002t0016g0036 a0001c0002t0040g0034	5	350	0.0143	-50	c.-49 others(71): Show c.-493+11296_-493+11345delGTGTCTGTGTGTGTATCTGTGTGT GTCTCTGTGTGTGCCTATGTGTGTGT	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNTG1_chr8_49906407_50801692	50734800	TATATATA others(43): Show TATATATAGATATCTATATATATGGACATATATATATCTATATATATGGA C	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00741.hp2 others(17): Show HG00280.hp1 HG00280.hp2 HG00741.hp2 HG02451.hp1 HG02647.hp1 HG02698.hp1 HG02896.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03669.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA18944.hp2 NA18952.hp1 NA18968.hp1 NA18992.hp2 NA19068.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0001t0026 a0001c0001t0040 a0001c0001t0046	a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0017 others(17): Show a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0067 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0090 a0001c0001t0004g0094 a0001c0001t0009g0085 a0001c0001t0011g0097 a0001c0001t0011g0099 a0001c0001t0012g0049 a0001c0001t0012g0063 a0001c0001t0022g0004 a0001c0001t0026g0095 a0001c0001t0040g0005 a0001c0001t0046g0104	20	106	0.1887	-50	c.128 others(71): Show c.1285-17193_1285-17144delGATATCTATATATATGGACATATA TATATCTATATATATGGACATATATA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1005806	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00735.hp2 others(53): Show HG00099.hp1 HG00140.hp2 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01257.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 NA18522.hp2 NA18969.hp2 NA19000.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0013 a0014 a0015 a0016 a0017 a0020 a0022	a0001c0001 a0001c0002 a0002c0003 others(16): Show a0001c0001 a0001c0002 a0002c0003 a0003c0007 a0003c0008 a0003c0026 a0004c0004 a0004c0014 a0005c0006 a0006c0010 a0006c0028 a0009c0013 a0013c0020 a0014c0035 a0015c0036 a0016c0034 a0017c0031 a0020c0032 a0022c0021	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(19): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0002c0003t0001 a0003c0007t0001 a0003c0008t0001 a0003c0026t0001 a0004c0004t0001 a0004c0014t0001 a0004c0014t0002 a0005c0006t0002 a0006c0010t0001 a0006c0028t0001 a0009c0013t0001 a0013c0020t0001 a0014c0035t0001 a0015c0036t0001 a0016c0034t0001 a0017c0031t0001 a0020c0032t0001 a0022c0021t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(53): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0001g0126 a0001c0002t0001g0133 a0001c0002t0001g0145 a0001c0002t0002g0002 a0001c0002t0004g0053 a0002c0003t0001g0030 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0061 a0002c0003t0001g0064 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0003t0001g0183 a0003c0007t0001g0055 a0003c0007t0001g0080 a0003c0008t0001g0060 a0003c0008t0001g0106 a0003c0008t0001g0190 a0003c0026t0001g0097 a0004c0004t0001g0065 a0004c0004t0001g0116 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0014t0001g0054 a0004c0014t0002g0001 a0005c0006t0002g0003 a0006c0010t0001g0043 a0006c0028t0001g0117 a0009c0013t0001g0042 a0009c0013t0001g0132 a0013c0020t0001g0142 a0013c0020t0001g0143 a0014c0035t0001g0071 a0015c0036t0001g0070 a0016c0034t0001g0146 a0017c0031t0001g0110 a0020c0032t0001g0059 a0022c0021t0001g0111	56	190	0.2947	-50	c.72+ others(67): Show c.72+54758_72+54807delTATATATATATATATATATATATATATA TATATATATATATATATATATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1255845	TATATATA others(43): Show TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA A	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0043 a0006c0010t0001g0043	1	190	0.0053	-50	c.100 others(69): Show c.1006-3517_1006-3468delAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842534	GAAAACGA others(43): Show GAAAACGAGCGAGGGAGAGAGCGAGAGCGAGAGAGAGAGAGAGAGAGCGT C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA20905.hp1 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0219 a0001c0001t0002g0176 a0001c0001t0002g0219	2	306	0.0065	-50	c.-55 others(59): Show c.-559_-510delGACGCTCTCTCTCTCTCTCTCTCGCTCTCGCTCTCT CCCTCGCTCGTTTT	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		350		chr8	TogoVar
SNX25_chr4_185204598_185368966	185224521	ATATATAC others(43): Show ATATATACATATATATAAATATATATACATATATATAAATATATATAAGT G	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	276	0.0036	-50	c.429 others(69): Show c.429+14273_429+14322delCATATATATAAATATATATACATATA TATAAATATATATAAGTGTATATA	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNX27_chr1_151607050_151704080	151651319	GGGCGGGG others(43): Show GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC T	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0102 a0001c0001t0012g0102	1	366	0.0027	-50	c.544 others(67): Show c.544-6880_544-6831delTGGGGCGGCTGGCCTGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGA	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX4_chr3_125441650_125525202	125458831	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAGAAAAGAAAAGATTCTAATACAGCAATGCACAAAG T	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG01891.hp2 others(26): Show HG00733.hp1 HG00735.hp2 HG01891.hp2 HG02257.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02895.hp1 HG02965.hp2 HG03139.hp2 HG03209.hp2 HG03669.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18950.hp1 NA18963.hp1 NA18966.hp2 NA18992.hp1 NA19002.hp2 NA19004.hp2 NA19064.hp1 NA19088.hp2 NA19240.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(26): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0132 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0195 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0331	29	360	0.0806	-50	c.945 others(67): Show c.945-1516_945-1467delACTTTGTGCATTGCTGTATTAGAATCTT TTCTTTTCTTTTTTTTTTTTTT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	10/13			chr3	TogoVar
SNX8_chr7_2246770_2319441	2268135	TGGCCAGC others(43): Show TGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGCGTCAGCCCTCCGCC C	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG03831.hp1 others(2): Show HG00735.hp2 HG01069.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0039 a0001c0006t0013 a0001c0006t0039	a0001c0006t0013g0194 a0001c0006t0013g0233 a0001c0006t0013g0234 others(2): Show a0001c0006t0013g0194 a0001c0006t0013g0233 a0001c0006t0013g0234 a0001c0006t0013g0276 a0001c0006t0039g0144	5	370	0.0135	-50	c.621 others(67): Show c.621+1374_621+1423delGGGCGGAGGGCTGACGCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	5/10			chr7	TogoVar
SNX8_chr7_2246770_2319441	2268853	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp1 HG03516.hp1 HG03098.hp1 HG03225.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0083 a0001c0001t0002g0132 a0001c0001t0008g0162 a0001c0001t0002g0083 a0001c0001t0002g0132 a0001c0001t0008g0162	3	370	0.0081	-50	c.621 others(65): Show c.621+656_621+705delCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	5/10			chr7	TogoVar
SOD1_chr21_31654693_31673931	31658035	GGGCCCAG others(43): Show GGGCCCAGTAAAGCATGGGGCCTGGGGCCAGGGACCCCCTTGTTCAGGTG T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(25): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02145.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG04228.hp2 NA19056.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0026 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0075	28	426	0.0657	-50	c.-17 others(61): Show c.-1734_-1685delGGCCCAGTAAAGCATGGGGCCTGGGGCCAGGGAC CCCCTTGTTCAGGTGT	SOD1	ENSG00000142168.15	transcript	ENST00000270142.11	protein_coding		1657		chr21	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACACACACACACACACA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02735.hp2 others(3): Show HG01168.hp1 HG01169.hp1 HG02735.hp2 HG04115.hp2 NA18959.hp1 NA19068.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0003 a0003c0004 a0007c0007 a0002c0003 a0003c0004 a0007c0007	a0002c0003t0001 a0003c0004t0001 a0007c0007t0001 a0002c0003t0001 a0003c0004t0001 a0007c0007t0001	a0002c0003t0001g0004 a0003c0004t0001g0026 a0003c0004t0001g0197 others(3): Show a0002c0003t0001g0004 a0003c0004t0001g0026 a0003c0004t0001g0197 a0003c0004t0001g0204 a0003c0004t0001g0215 a0007c0007t0001g0064	6	364	0.0165	-50	c.11 others(61): Show c.1181_*1230delACACACACACACACACACACACACACACACACAC ACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SORBS2_chr4_185580523_185817194	185731493	TCTCTCTC others(43): Show TCTCTCTCCCTCCCTCCCTGCCTATCTCTCTCCCCCTCCCTCTCTCCCTG C	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0009 a0009	a0009c0036 a0009c0036	a0009c0036t0070 a0009c0036t0070	a0009c0036t0070g0218 a0009c0036t0070g0218	1	312	0.0032	-50	c.-41 others(67): Show c.-41+2556_-41+2605delGCAGGGAGAGAGGGAGGGGGAGAGAGAT AGGCAGGGAGGGAGGGAGAGAG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185796840	GGGCTGGG others(43): Show GGGCTGGGCATGCCTGGGCTCTGTGGCCACGCTGTTCCCTGGTCACGGTG A	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00735.hp2 others(21): Show HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG02723.hp2 HG03516.hp1 HG03579.hp2 HG03942.hp2 HG04115.hp2 NA18952.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0022 a0001c0023 a0001c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0026 a0001c0001t0039 a0001c0001t0061 a0001c0002t0002 a0001c0003t0001 a0001c0009t0001 a0001c0022t0007 a0001c0023t0043 a0001c0025t0063	a0001c0001t0001g0023 a0001c0001t0001g0160 a0001c0001t0001g0163 others(21): Show a0001c0001t0001g0023 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0002g0014 a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0009g0196 a0001c0001t0011g0202 a0001c0001t0011g0297 a0001c0001t0011g0307 a0001c0001t0012g0298 a0001c0001t0012g0299 a0001c0001t0019g0302 a0001c0001t0026g0015 a0001c0001t0039g0009 a0001c0001t0061g0191 a0001c0002t0002g0131 a0001c0003t0001g0278 a0001c0003t0001g0301 a0001c0009t0001g0221 a0001c0022t0007g0193 a0001c0023t0043g0005 a0001c0025t0063g0213	24	312	0.0769	-50	c.-23 others(71): Show c.-237+14774_-237+14823delTCACCGTGACCAGGGAACAGCGTG GCCACAGAGCCCAGGCATGCCCAGCC	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SOX5_chr12_23524504_23954670	23837257	TTATATAA others(43): Show TTATATAATATATAATATGTATTTATATTTATATTTATATAATATATAAG A	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01071.hp2 others(8): Show HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01175.hp2 HG01261.hp2 HG01517.hp2 HG01934.hp2 HG02976.hp2 HG03239.hp2 HG04204.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0021 a0001c0001t0032 others(8): Show a0001c0001t0015 a0001c0001t0021 a0001c0001t0032 a0001c0001t0039 a0001c0001t0055 a0001c0001t0056 a0001c0001t0061 a0001c0001t0063 a0001c0001t0070 a0001c0001t0092 a0001c0002t0006	a0001c0001t0015g0091 a0001c0001t0021g0139 a0001c0001t0032g0141 others(8): Show a0001c0001t0015g0091 a0001c0001t0021g0139 a0001c0001t0032g0141 a0001c0001t0039g0004 a0001c0001t0055g0135 a0001c0001t0056g0142 a0001c0001t0061g0136 a0001c0001t0063g0140 a0001c0001t0070g0137 a0001c0001t0092g0152 a0001c0002t0006g0019	11	212	0.0519	-50	c.481 others(67): Show c.481+8676_481+8725delTCTTATATATTATATAAATATAAATATA AATACATATTATATATTATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SP100_chr2_230411201_230550606	230497524	GAGGAGAG others(43): Show GAGGAGAGGAGAGGAGAGGAGAGGAAAGGAAAGGAAAGGAAAGGAAAGGA A	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0122 a0005c0008t0002g0122	1	290	0.0035	-50	c.164 others(67): Show c.1646-932_1646-883delGAGGAGAGGAGAGGAGAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497534	GAGGAGAG others(43): Show GAGGAGAGGAGAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA A	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	290	0.0035	-50	c.164 others(67): Show c.1646-922_1646-873delGAGGAGAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPACA7_chr13_112371355_112439689	112382885	AGGCTGAG others(43): Show AGGCTGAGGCAGGAGAATCAGTTGAACCTGGGAGGCAGCAGTTGCAGTAA G	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	391	0.0026	-50	c.94+ others(65): Show c.94+6407_94+6456delGGCTGAGGCAGGAGAATCAGTTGAACCTGG GAGGCAGCAGTTGCAGTAAG	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6			chr13	TogoVar
SPAG16_chr2_213279464_214415501	213468484	TATATATG others(43): Show TATATATGTATTTATATATAGATATATATATATCTATGTATTTATATATA G	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02559.hp1 HG02717.hp2 others(6): Show HG02293.hp1 HG02559.hp1 HG02717.hp2 HG02895.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp2 HG06807.hp1 NA20129.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0005c0005t0001 a0008c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0002g0001 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0002g0001 a0001c0001t0002g0008 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0011 a0005c0005t0001g0005 a0008c0010t0001g0004	9	86	0.1047	-50	c.943 others(69): Show c.943-21472_943-21423delGTATTTATATATAGATATATATATAT CTATGTATTTATATATAGATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA5_chr4_122918078_123324433	123015814	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA C	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01071.hp2 others(17): Show HG00099.hp2 HG00733.hp1 HG01071.hp2 HG01109.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG01516.hp2 HG01884.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02818.hp1 HG02976.hp2 HG03471.hp2 HG03486.hp2 HG04204.hp2 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0027 a0001c0001t0043 a0001c0001t0051	a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 others(17): Show a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0003g0096 a0001c0001t0003g0101 a0001c0001t0004g0102 a0001c0001t0004g0170 a0001c0001t0004g0239 a0001c0001t0006g0098 a0001c0001t0006g0240 a0001c0001t0027g0106 a0001c0001t0043g0172 a0001c0001t0051g0174	20	262	0.0763	-50	c.187 others(71): Show c.1870-12365_1870-12316delCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCC	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6_chr1_48290373_48477204	48382802	GGGGGGCT others(43): Show GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC A	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00597.hp2 others(67): Show HG00280.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp2 HG02083.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG06807.hp1 NA18940.hp1 NA18941.hp2 NA18952.hp1 NA18961.hp1 NA18968.hp1 NA18977.hp1 NA18980.hp1 NA18998.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19070.hp2 NA19085.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(7): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0035 a0004c0004t0002	a0001c0001t0002g0100 a0001c0001t0002g0152 a0001c0001t0002g0153 others(67): Show a0001c0001t0002g0100 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0215 a0001c0001t0002g0253 a0001c0001t0008g0235 a0001c0001t0008g0236 a0001c0001t0008g0239 a0001c0001t0008g0242 a0001c0001t0008g0243 a0001c0001t0008g0244 a0001c0001t0008g0249 a0001c0001t0008g0250 a0001c0001t0008g0251 a0001c0001t0011g0237 a0001c0001t0011g0238 a0001c0001t0011g0240 a0001c0001t0011g0245 a0001c0001t0011g0247 a0001c0001t0011g0252 a0001c0001t0013g0161 a0001c0001t0013g0162 a0001c0001t0013g0164 a0001c0001t0017g0241 a0001c0001t0017g0246 a0001c0001t0017g0248 a0001c0001t0021g0157 a0001c0001t0021g0159 a0001c0001t0023g0096 a0001c0001t0023g0099 a0001c0001t0024g0182 a0001c0001t0024g0185 a0001c0001t0035g0160 a0004c0004t0002g0097 a0004c0004t0002g0098	70	322	0.2174	-50	c.909 others(67): Show c.909+2457_909+2506delTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384329	GGACAGGG others(43): Show GGACAGGGACAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGGGAGAGGG A	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02257.hp2 HG02895.hp1 others(5): Show HG01943.hp1 HG02257.hp2 HG02895.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0236 a0001c0001t0008g0239 a0001c0001t0008g0244 others(5): Show a0001c0001t0008g0236 a0001c0001t0008g0239 a0001c0001t0008g0244 a0001c0001t0008g0249 a0001c0001t0008g0250 a0001c0001t0011g0237 a0001c0001t0011g0238 a0001c0001t0011g0247	8	322	0.0248	-50	c.909 others(65): Show c.909+930_909+979delTCCCTCTCCCTCTCCCTCTCCCTCTCCCTG TCCCTGTCCCTGTCCCTGTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPDYE10_chr7_73099008_73160431	73156136	ACACTCTC others(43): Show ACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCTCTC T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0214 a0001c0005t0014g0214	1	216	0.0046	-50	c.-15 others(61): Show c.-1503_-1454delAGAGAGAGAGAGAGAGAGACAGACAGAGAGAGAG AGAGAGAGAGAGAGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		706		chr7	TogoVar
SPHKAP_chr2_227974955_228186687	228092432	TATATATG others(43): Show TATATATGTGCCATATATATGTATACATATATGTGCCATATATATGTATA C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(71): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG01978.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02280.hp2 HG02683.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG04184.hp1 NA18522.hp1 NA18747.hp1 NA18944.hp2 NA18946.hp2 NA18949.hp1 NA18960.hp1 NA18966.hp1 NA18968.hp1 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA19001.hp2 NA19005.hp1 NA19006.hp1 NA19058.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19090.hp1 NA19091.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0018	a0001c0001 a0003c0005 a0004c0004 others(7): Show a0001c0001 a0003c0005 a0004c0004 a0004c0020 a0005c0003 a0006c0007 a0008c0009 a0010c0011 a0011c0016 a0018c0021	a0001c0001t0002 a0003c0005t0001 a0003c0005t0006 others(11): Show a0001c0001t0002 a0003c0005t0001 a0003c0005t0006 a0004c0004t0003 a0004c0004t0016 a0004c0020t0003 a0005c0003t0001 a0005c0003t0002 a0005c0003t0003 a0006c0007t0001 a0008c0009t0003 a0010c0011t0001 a0011c0016t0001 a0018c0021t0001	a0001c0001t0002g0005 a0001c0001t0002g0081 a0001c0001t0002g0225 others(71): Show a0001c0001t0002g0005 a0001c0001t0002g0081 a0001c0001t0002g0225 a0001c0001t0002g0241 a0001c0001t0002g0254 a0003c0005t0001g0076 a0003c0005t0001g0077 a0003c0005t0001g0078 a0003c0005t0001g0079 a0003c0005t0001g0080 a0003c0005t0001g0260 a0003c0005t0001g0307 a0003c0005t0006g0108 a0004c0004t0003g0003 a0004c0004t0003g0020 a0004c0004t0003g0021 a0004c0004t0003g0048 a0004c0004t0003g0056 a0004c0004t0003g0068 a0004c0004t0003g0069 a0004c0004t0003g0070 a0004c0004t0003g0071 a0004c0004t0003g0072 a0004c0004t0003g0113 a0004c0004t0003g0123 a0004c0004t0003g0131 a0004c0004t0003g0141 a0004c0004t0003g0150 a0004c0004t0003g0179 a0004c0004t0003g0194 a0004c0004t0003g0206 a0004c0004t0003g0211 a0004c0004t0003g0215 a0004c0004t0003g0227 a0004c0004t0003g0231 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0235 a0004c0004t0003g0236 a0004c0004t0003g0240 a0004c0004t0003g0243 a0004c0004t0003g0244 a0004c0004t0003g0245 a0004c0004t0003g0253 a0004c0004t0003g0277 a0004c0004t0003g0278 a0004c0004t0003g0279 a0004c0004t0003g0304 a0004c0004t0016g0060 a0004c0020t0003g0142 a0005c0003t0001g0017 a0005c0003t0001g0133 a0005c0003t0001g0280 a0005c0003t0001g0281 a0005c0003t0001g0282 a0005c0003t0001g0283 a0005c0003t0001g0284 a0005c0003t0001g0285 a0005c0003t0002g0054 a0005c0003t0002g0067 a0005c0003t0002g0193 a0005c0003t0002g0229 a0005c0003t0002g0250 a0005c0003t0002g0272 a0005c0003t0003g0238 a0006c0007t0001g0134 a0006c0007t0001g0135 a0006c0007t0001g0201 a0008c0009t0003g0033 a0008c0009t0003g0154 a0008c0009t0003g0251 a0010c0011t0001g0176 a0011c0016t0001g0074 a0018c0021t0001g0275	74	322	0.2298	-50	c.246 others(69): Show c.246+16350_246+16399delGTATACATATATATGGCACATATATG TATACATATATATGGCACATATAT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPIDR_chr8_47255938_47741306	47588026	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	C C	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	216	0.0046	-50	c.109 others(69): Show c.1098-7773_1098-7724delTATATATATATATATATATATATATA TATATATATATATATATATATATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINK6_chr5_148198042_148220137	148210246	ATTTCTGC others(43): Show ATTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATATGTAT G	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	438	0.0023	-50	c.82- others(65): Show c.82-3616_82-3567delATGTTTCTGCATACATATATATGTATGTGT TTCTGCATACATATATATGT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPON2_chr4_1161932_1177583	1176580	TCACACAG others(43): Show TCACACAGTACATTCAATCATCCATTCACACAGTACATTCATGCAGTCAT C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG03491.hp2 HG03710.hp1 others(1): Show HG02040.hp2 HG03491.hp2 HG03710.hp1 HG04204.hp1	a0002 a0004 a0002 a0004	a0002c0007 a0004c0016 a0002c0007 a0004c0016	a0002c0007t0003 a0002c0007t0006 a0004c0016t0003 a0002c0007t0003 a0002c0007t0006 a0004c0016t0003	a0002c0007t0003g0022 a0002c0007t0006g0074 a0004c0016t0003g0073 a0002c0007t0003g0022 a0002c0007t0006g0074 a0004c0016t0003g0073	4	432	0.0093	-50	c.-40 others(61): Show c.-4090_-4041delGATGACTGCATGAATGTACTGTGTGAATGGATGA TTGAATGTACTGTGTG	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		3998		chr4	TogoVar
SRBD1_chr2_45383680_45616267	45415667	GGGAGGGG others(43): Show GGGAGGGGAGGGGAGGGGACGGGAGAGGAGAGGAGAGGAGAGGAGAGGAG A	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0178 a0001c0014t0001g0178	1	358	0.0028	-50	c.233 others(69): Show c.2334-2424_2334-2375delTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCCGTCCCCTCCCCTCCCCTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415677	GGGAGGGG others(43): Show GGGAGGGGACGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG A	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 HG02965.hp2 others(1): Show HG02145.hp2 HG02922.hp1 HG02965.hp2 HG03516.hp1	a0002 a0008 a0002 a0008	a0002c0004 a0008c0009 a0002c0004 a0008c0009	a0002c0004t0001 a0008c0009t0001 a0002c0004t0001 a0008c0009t0001	a0002c0004t0001g0106 a0002c0004t0001g0110 a0002c0004t0001g0115 others(1): Show a0002c0004t0001g0106 a0002c0004t0001g0110 a0002c0004t0001g0115 a0008c0009t0001g0108	4	358	0.0112	-50	c.233 others(69): Show c.2334-2434_2334-2385delTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCCTCTCCCGTCCCCTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45586988	ATTTTAAA others(43): Show ATTTTAAATATTTAATTATTTTAAATTATAAATATTAAAATATTTAAAAA T	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18991.hp2 NA18971.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	358	0.0056	-50	c.649 others(67): Show c.649-1264_649-1215delATTTTTAAATATTTTAATATTTATAATT TAAAATAATTAAATATTTAAAA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45587037	ATTTTTAA others(43): Show ATTTTTAAATATTTAATTATTTTAAATTATAAATATTAAAATATTTAAAA T	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp2 HG03471.hp1 others(1): Show HG02922.hp2 HG03098.hp2 HG03471.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0014 a0002c0002 a0001c0014 a0002c0002	a0001c0014t0001 a0002c0002t0001 a0001c0014t0001 a0002c0002t0001	a0001c0014t0001g0178 a0002c0002t0001g0006 a0002c0002t0001g0009 others(1): Show a0001c0014t0001g0178 a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0010	4	358	0.0112	-50	c.649 others(67): Show c.649-1313_649-1264delATTTTAAATATTTTAATATTTATAATTT AAAATAATTAAATATTTAAAAA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRGAP2C_chr1_121179975_121397874	121239196	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATACTATATATATATATATA C	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0268 a0001c0003t0004g0268	1	274	0.0037	-50	c.68- others(67): Show c.68-45586_68-45537delTATATATATATACTATATATATATATAT ACTATATATATATATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239239	ATATATAC others(43): Show ATATATACTATATATATATATATATATACTATATATATATATACTATATA T	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0262 a0001c0003t0004g0262	1	274	0.0037	-50	c.68- others(67): Show c.68-45563_68-45514delTATATACTATATATATATATATATATAC TATATATATATATACTATATAT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54233496	CAGCCCCC others(43): Show CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT A	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0086 a0001c0004t0020g0086	1	280	0.0036	-50	c.928 others(67): Show c.928-4720_928-4671delTACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54240059	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGTGTGCGTG C	T T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	280	0.0036	-50	c.856 others(65): Show c.856+796_856+845delGCACGCACACGCGCGCGCGCGCACACACAC ACACACACACACACACACAC	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17			chr1	TogoVar
ST3GAL1_chr8_133449848_133576887	133540756	TATATAGA others(43): Show TATATAGACATATATATATAGAGACATATATATATATAGACATATATATA G	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0147 a0001c0001t0032g0147	1	332	0.0030	-50	c.-42 others(69): Show c.-429+4968_-429+5017delCTATATATATGTCTATATATATATAT GTCTCTATATATATATGTCTATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST6GAL1_chr3_186925526_187083553	186938970	GTAGGGAG others(43): Show GTAGGGAGGATTGGGAGTCAGGAGAGAGACAGAAAGTCAACCTAGGACCT T	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01071.hp2 others(13): Show HG00642.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01358.hp1 HG02145.hp1 HG02148.hp2 HG02622.hp2 HG02723.hp1 HG02976.hp1 HG03471.hp2 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0001t0016 a0001c0001t0066 others(7): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0002t0020 a0001c0002t0026 a0001c0002t0027 a0001c0003t0025 a0001c0004t0038	a0001c0001t0004g0006 a0001c0001t0004g0013 a0001c0001t0016g0008 others(13): Show a0001c0001t0004g0006 a0001c0001t0004g0013 a0001c0001t0016g0008 a0001c0001t0016g0009 a0001c0001t0016g0010 a0001c0001t0016g0011 a0001c0001t0016g0018 a0001c0001t0066g0005 a0001c0001t0067g0017 a0001c0001t0068g0012 a0001c0002t0020g0019 a0001c0002t0026g0007 a0001c0002t0026g0020 a0001c0002t0027g0014 a0001c0003t0025g0015 a0001c0004t0038g0016	16	362	0.0442	-50	c.-32 others(69): Show c.-325+8154_-325+8203delCAGGAGAGAGACAGAAAGTCAACCTA GGACCTTTAGGGAGGATTGGGAGT	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76277540	ATATATAT others(43): Show ATATATATATATATATATATATATATATACACACACACATATGTTTATGT G	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	102	0.0098	-50	c.19- others(67): Show c.19-36242_19-36193delTATATACACACACACATATGTTTATGTG TATATATATATATATATATATA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST7L_chr1_112518514_112624141	112610701	ACATCACA others(43): Show ACATCACATTGGTGATTAGAATTTTGGGGGAAACACAAACATGCACACCA C	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	364	0.0028	-50	c.451 others(64): Show c.451+90_451+139delGTGGTGTGCATGTTTGTGTTTCCCCCAAAAT TCTAATCACCAATGTGATG	ST7L	ENSG00000007341.19	transcript	ENST00000358039.9	protein_coding	3/14			chr1	TogoVar
STIM1_chr11_3850664_4098208	3895709	TCTTTCTT others(43): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTT C	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0194 a0001c0001t0005g0194	1	300	0.0033	-50	c.139 others(69): Show c.139+39304_139+39353delTCTTTCTTTCTTTCTTTCTTTCTTTT TCTTTCTTCCTTCCTTCCTTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895717	TCTTTCTT others(43): Show TCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTT C	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0297 a0001c0001t0009g0297	1	300	0.0033	-50	c.139 others(69): Show c.139+39312_139+39361delTCTTTCTTTCTTTCTTTTTCTTTCTT CCTTCCTTCCTTCCTTCCTTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STK31_chr7_23705219_23837513	23752560	CAAACTTC others(43): Show CAAACTTCTGAGCTCAAACCATCTGTCCTCCTTGGCCTCCCAAAGTGTTG G	C C	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	404	0.0025	-50	c.101 others(67): Show c.1018-154_1018-105delACTTCTGAGCTCAAACCATCTGTCCTCC TTGGCCTCCCAAAGTGTTGGAA	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32B_chr4_5046480_5505989	5316388	AATATATT others(43): Show AATATATTACATATATAATATATAATATATATTACATATATAATATATAA T	A A	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19087.hp1 NA19087.hp2 NA18966.hp2 NA19087.hp1 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0043 a0002c0002t0001g0096 a0002c0002t0003g0101 a0002c0002t0001g0043 a0002c0002t0001g0096 a0002c0002t0003g0101	3	170	0.0177	-50	c.261 others(69): Show c.261-14658_261-14609delATATATATTACATATATAATATATAA TATATATTACATATATAATATATA	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar

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