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
SCYL2_chr12_100262177_100346715	100294691	CGGGGGGC others(42): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02257.hp1 HG01928.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0002 a0001c0002t0003 a0001c0003t0002	a0001c0002t0003g0018 a0001c0003t0002g0172 a0001c0002t0003g0018 a0001c0003t0002g0172	2	217	0.0092	-49	c.335 others(66): Show c.335+3068_335+3116delTGGCTGGCCGGGTGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SDK1_chr7_3296252_4274000	4146106	ATTCACAC others(42): Show ATTCACACCTTCAGCCTCACACCTGCTCTCTCAGACACGTGAGCACTGCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG00408.hp2 HG00738.hp1	a0002 a0002	a0002c0053 a0002c0054 a0002c0053 a0002c0054	a0002c0053t0067 a0002c0054t0002 a0002c0053t0067 a0002c0054t0002	a0002c0053t0067g0034 a0002c0054t0002g0101 a0002c0053t0067g0034 a0002c0054t0002g0101	2	116	0.0172	-49	c.442 others(66): Show c.4423+222_4423+270delAGACACGTGAGCACTGCGTTCACACCTT CAGCCTCACACCTGCTCTCTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	29/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4146138	AGACACGT others(42): Show AGACACGTGAGCACTGCGTTCACACCTTCAGCCTCACACCTGCTCTCTCC	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0029 a0029	a0029c0084 a0029c0084	a0029c0084t0045 a0029c0084t0045	a0029c0084t0045g0011 a0029c0084t0045g0011	1	116	0.0086	-49	c.442 others(66): Show c.4423+235_4423+283delCTGCGTTCACACCTTCAGCCTCACACCT GCTCTCTCCGACACGTGAGCA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	29/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4248913	GCACACAT others(42): Show GCACACATACACATATGTACATACATGCACAACACATACATACCTAAATA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG02809.hp2 others(7): Show HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 NA20129.hp1	a0001 a0004 a0021 others(2): Show a0001 a0004 a0021 a0022 a0025	a0001c0011 a0001c0025 a0001c0031 others(6): Show a0001c0011 a0001c0025 a0001c0031 a0001c0037 a0001c0067 a0004c0080 a0021c0068 a0022c0094 a0025c0081	a0001c0011t0008 a0001c0011t0039 a0001c0025t0024 others(7): Show a0001c0011t0008 a0001c0011t0039 a0001c0025t0024 a0001c0031t0001 a0001c0037t0002 a0001c0067t0068 a0004c0080t0014 a0021c0068t0014 a0022c0094t0025 a0025c0081t0008	a0001c0011t0008g0028 a0001c0011t0039g0061 a0001c0025t0024g0089 others(7): Show a0001c0011t0008g0028 a0001c0011t0039g0061 a0001c0025t0024g0089 a0001c0031t0001g0018 a0001c0037t0002g0077 a0001c0067t0068g0001 a0004c0080t0014g0078 a0021c0068t0014g0014 a0022c0094t0025g0049 a0025c0081t0008g0075	10	95	0.1053	-49	c.638 others(68): Show c.6381+3165_6381+3213delACACATATGTACATACATGCACAACA CATACATACCTAAATACACACAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDR16C5_chr8_56295005_56325175	56310268	AGGAGGAG others(42): Show AGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAG	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	395	0.0025	-49	c.466 others(66): Show c.466-1290_466-1242delCTCCTCCTTCCTCCTCCTCCTCCTTCCT CCTCCTCCTCCTTCCTCCTCC	SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6			chr8	TogoVar
SEH1L_chr18_12943011_12992531	12979687	TGGGCGGG others(42): Show TGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	322	0.0031	-49	c.761 others(64): Show c.761+842_761+890delGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTG	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12979734	GCCGGGCG others(42): Show GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGT	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19074.hp1 NA19057.hp2 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0199 a0002c0002t0001g0125 a0002c0002t0001g0199	2	386	0.0052	-49	c.761 others(64): Show c.761+849_761+897delGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGTCCGGGC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12980424	CCCCCCAA others(42): Show CCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0212 a0002c0002t0001g0212	1	362	0.0028	-49	c.761 others(66): Show c.761+1581_761+1629delTCCCCCAACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGA	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12980479	AACCTCCC others(42): Show AACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp2 others(92): Show HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18940.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18965.hp1 NA18969.hp2 NA18979.hp1 NA18986.hp2 NA18990.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp1 NA19079.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 a0001c0001t0001 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(88): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0317 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0379 a0002c0002t0001g0110 a0003c0005t0001g0083 a0003c0005t0001g0084	95	358	0.2654	-49	c.761 others(66): Show c.761+1657_761+1705delGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SELENBP1_chr1_151359304_151377705	151374819	TTAATTTT others(42): Show TTAATTTTGGATTTTTAAAAAAATAATAAGTACTGCTTTTGTAACTAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	436	0.0023	-49	c.-22 others(60): Show c.-2227_-2179delTTTTAGTTACAAAAGCAGTACTTATTATTTTTTT AAAAATCCAAAATTA	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding		2115		chr1	TogoVar
SELENOI_chr2_26341143_26400885	26370821	GGGCGGGG others(42): Show GGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0147 a0001c0004t0004g0147	1	332	0.0030	-49	c.311 others(66): Show c.311-2497_311-2449delAGGCGGGGGGCTGACACCCCCACCTCCC TCCCGGACGGGGCGGCTGGCC	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENOI_chr2_26341143_26400885	26370905	CGGGGCGG others(42): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(70): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01081.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02602.hp2 HG02717.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18946.hp1 NA18954.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18979.hp1 NA18980.hp2 NA18988.hp1 NA18991.hp2 NA18994.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0030 a0001c0002t0031 others(1): Show a0001c0002t0001 a0001c0002t0030 a0001c0002t0031 a0001c0002t0032	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0012 others(52): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0163 a0001c0002t0001g0173 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0030g0133 a0001c0002t0031g0140 a0001c0002t0032g0001	73	332	0.2199	-49	c.311 others(66): Show c.311-2413_311-2365delTGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGA	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN12_chr16_4772606_4793345	4774950	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01256.hp2 HG01516.hp1 others(6): Show HG01081.hp1 HG01256.hp2 HG01516.hp1 HG01517.hp1 NA18946.hp1 NA18975.hp2 NA19078.hp2 NA19081.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0046 a0001c0002t0002g0056 others(4): Show a0001c0002t0002g0015 a0001c0002t0002g0046 a0001c0002t0002g0056 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0196 a0001c0002t0002g0207	9	420	0.0214	-49	c.27 others(60): Show c.2798_*2846delGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGG	SEPTIN12	ENSG00000140623.14	transcript	ENST00000268231.13	protein_coding		2655		chr16	TogoVar
SFI1_chr22_31491536_31623588	31592361	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18971.hp1 NA18972.hp1 others(2): Show NA18953.hp2 NA18971.hp1 NA18972.hp1 NA19079.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0237 others(2): Show a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0243	5	320	0.0156	-49	c.154 others(68): Show c.1544+2824_1544+2872delAGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGC	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31592978	CGGGGGGC others(42): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	320	0.0031	-49	c.154 others(68): Show c.1544+3447_1544+3495delAGGTGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGCACGGCTGGCC	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFXN1_chr5_175473560_175534742	175516033	TAATGCGG others(42): Show TAATGCGGTCGCTGACCTGACAGGAGGCAGAGCTCAGGCGTAATGCAAGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02615.hp1 others(5): Show HG02257.hp1 HG02280.hp1 HG02615.hp1 HG02622.hp1 HG02886.hp1 HG02886.hp2 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0015 a0001c0002t0039 a0001c0002t0041 others(2): Show a0001c0002t0015 a0001c0002t0039 a0001c0002t0041 a0001c0002t0042 a0001c0007t0040	a0001c0002t0015g0081 a0001c0002t0015g0082 a0001c0002t0015g0085 others(5): Show a0001c0002t0015g0081 a0001c0002t0015g0082 a0001c0002t0015g0085 a0001c0002t0015g0096 a0001c0002t0039g0024 a0001c0002t0041g0151 a0001c0002t0042g0084 a0001c0007t0040g0181	8	370	0.0216	-49	c.725 others(64): Show c.725-576_725-528delCGGTCGCTGACCTGACAGGAGGCAGAGCTC AGGCGTAATGCAAGCAATG	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGIP1_chr1_66529153_66756139	66736405	ATATGTGA others(42): Show ATATGTGAATATAATATATTGCGTATTATATGTGAATATAATATATTGCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00609.hp2 others(4): Show HG00408.hp1 HG00438.hp2 HG00609.hp2 HG02258.hp2 NA19012.hp1 NA19065.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0001 a0001c0001t0002 a0001c0001t0020	a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0002g0031 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0056 a0001c0001t0002g0298 a0001c0001t0020g0258	7	219	0.0320	-49	c.203 others(68): Show c.2031+2529_2031+2577delGTGAATATAATATATTGCGTATTATA TGTGAATATAATATATTGCGTAT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGSM2_chr17_2332501_2386054	2354989	GGGGGAAG others(42): Show GGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA20752.hp2 HG02486.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0002 a0001c0003t0002 a0002c0002t0002	a0001c0003t0002g0104 a0002c0002t0002g0099 a0001c0003t0002g0104 a0002c0002t0002g0099	2	418	0.0048	-49	c.134 others(66): Show c.134-6594_134-6546delAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356029	GGTTGGGG others(42): Show GGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGA	G G	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0250 a0001c0003t0002g0250	1	417	0.0024	-49	c.134 others(66): Show c.134-5600_134-5552delAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGAGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D4B_chr10_80532902_80651560	80534224	CAGCCCCC others(42): Show CAGCCCCCCGCCCGGCCAGCCGCCCTGTCCAGAAGGGAGGTGGGGGGGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00673.hp1 others(66): Show HG00558.hp1 HG00597.hp1 HG00673.hp1 HG00738.hp2 HG01243.hp1 HG01257.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp2 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG03209.hp2 HG03471.hp1 HG03654.hp2 HG03704.hp2 HG04204.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18960.hp2 NA18963.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18977.hp1 NA18983.hp2 NA18990.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0006 a0002c0002 others(6): Show a0001c0001 a0001c0006 a0002c0002 a0002c0012 a0002c0021 a0003c0003 a0004c0004 a0004c0016 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0001 a0001c0006t0002 a0001c0006t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0012t0001 a0002c0021t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0011 a0004c0004t0001 a0004c0004t0013 a0004c0016t0001 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0015	a0001c0001t0001g0065 a0001c0001t0002g0092 a0001c0001t0002g0108 others(65): Show a0001c0001t0001g0065 a0001c0001t0002g0092 a0001c0001t0002g0108 a0001c0001t0003g0080 a0001c0006t0001g0052 a0001c0006t0001g0096 a0001c0006t0001g0097 a0001c0006t0001g0115 a0001c0006t0002g0087 a0001c0006t0002g0093 a0001c0006t0008g0101 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0110 a0002c0002t0002g0051 a0002c0002t0002g0054 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0003g0109 a0002c0002t0003g0318 a0002c0002t0004g0085 a0002c0002t0004g0086 a0002c0012t0001g0003 a0002c0012t0001g0095 a0002c0012t0001g0099 a0002c0021t0001g0003 a0003c0003t0001g0002 a0003c0003t0001g0055 a0003c0003t0001g0057 a0003c0003t0001g0062 a0003c0003t0001g0064 a0003c0003t0001g0068 a0003c0003t0001g0076 a0003c0003t0001g0088 a0003c0003t0001g0091 a0003c0003t0001g0094 a0003c0003t0001g0100 a0003c0003t0001g0102 a0003c0003t0002g0058 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0098 a0003c0003t0002g0107 a0003c0003t0011g0067 a0004c0004t0001g0075 a0004c0004t0013g0056 a0004c0016t0001g0070 a0005c0005t0001g0053 a0005c0005t0001g0078 a0005c0005t0001g0079 a0005c0005t0001g0081 a0005c0005t0001g0082 a0005c0005t0001g0083 a0005c0005t0001g0084 a0005c0005t0001g0089 a0005c0005t0001g0090 a0005c0005t0002g0113 a0005c0005t0003g0111 a0005c0005t0003g0112 a0005c0005t0015g0114	69	320	0.2156	-49	c.-41 others(60): Show c.-4107_-4059delAGCCCCCCGCCCGGCCAGCCGCCCTGTCCAGAAG GGAGGTGGGGGGGTT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding		3677		chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80534621	AGGTCAGC others(42): Show AGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGCGGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	320	0.0031	-49	c.-37 others(60): Show c.-3710_-3662delGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGCGGGGG	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding		3280		chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80534782	AGGAGGGA others(42): Show AGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03098.hp2 HG03453.hp2 others(1): Show HG02572.hp2 HG03098.hp2 HG03453.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0025 a0001c0001t0001 a0002c0002t0025	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0207 others(1): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0207 a0002c0002t0025g0197	4	320	0.0125	-49	c.-35 others(60): Show c.-3549_-3501delGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGC CAGCCGCCCCATCCG	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding		3119		chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80534924	TGTCCGGG others(42): Show TGTCCGGGAGGGAGGCGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0056 a0004c0004t0013g0056	1	320	0.0031	-49	c.-34 others(60): Show c.-3407_-3359delGTCCGGGAGGGAGGCGGGGGGGTCAGCCCCCTGC CCGGCCAGCCGCCCC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding		2977		chr10	TogoVar
SH3RF3_chr2_109124205_109509634	109170270	TTCTCTTC others(42): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00639.hp1 others(1): Show HG00438.hp1 HG00544.hp2 HG00639.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0054 a0001c0001t0002 a0001c0001t0011 a0001c0001t0054	a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0011g0091 others(1): Show a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0011g0091 a0001c0001t0054g0107	4	172	0.0233	-49	c.573 others(68): Show c.573+40163_573+40211delTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTCTCTCCTCTCTCT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109199461	AATGGAAT others(42): Show AATGGAATGGAATGGAATGGAATGGAATGGAATGGATGGAATGGAATGGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG02647.hp2 HG02280.hp2 HG02622.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0007 a0001c0003t0014 a0001c0001t0003 a0001c0001t0007 a0001c0003t0014	a0001c0001t0003g0124 a0001c0001t0007g0145 a0001c0003t0014g0078 a0001c0001t0003g0124 a0001c0001t0007g0145 a0001c0003t0014g0078	3	172	0.0174	-49	c.573 others(68): Show c.573+69384_573+69432delTGGAATGGAATGGGATGGAATGGAAT GGAATGGAATGGAATGGAATGGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHC2_chr19_411589_466033	429128	TGTGTGGA others(42): Show TGTGTGGATGATGCAGTACCTATATCCAACATGCACAGAAACCTAACACC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG06807.hp1 NA18906.hp1 HG03209.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0013 a0001c0006t0001g0016 a0001c0006t0001g0017 a0001c0006t0001g0013 a0001c0006t0001g0016 a0001c0006t0001g0017	3	210	0.0143	-49	c.117 others(68): Show c.1174+1507_1174+1555delGGTGTTAGGTTTCTGTGCATGTTGGA TATAGGTACTGCATCATCCACAC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC2_chr19_411589_466033	429581	GCAGTACC others(42): Show GCAGTACCTATACCCAACATGCAGAGAAACCTAATACCGTGTGGATGACA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02258.hp1 others(1): Show HG01884.hp1 HG02055.hp2 HG02258.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0005t0006	a0001c0001t0002g0076 a0001c0001t0003g0032 a0001c0001t0013g0072 others(1): Show a0001c0001t0002g0076 a0001c0001t0003g0032 a0001c0001t0013g0072 a0001c0005t0006g0009	4	210	0.0190	-49	c.117 others(68): Show c.1174+1054_1174+1102delTGTCATCCACACGGTATTAGGTTTCT CTGCATGTTGGGTATAGGTACTG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC2_chr19_411589_466033	429613	AATACCGT others(42): Show AATACCGTGTGGATGACACAGTACCTATACCCAACATGCACGGAAATCTC	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19240.hp1 NA19240.hp2 others(1): Show NA18522.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0005 a0011 a0001 a0005 a0011	a0001c0001 a0005c0009 a0011c0022 a0001c0001 a0005c0009 a0011c0022	a0001c0001t0003 a0005c0009t0005 a0005c0009t0014 others(1): Show a0001c0001t0003 a0005c0009t0005 a0005c0009t0014 a0011c0022t0002	a0001c0001t0003g0070 a0005c0009t0005g0047 a0005c0009t0014g0036 others(1): Show a0001c0001t0003g0070 a0005c0009t0005g0047 a0005c0009t0014g0036 a0011c0022t0002g0185	4	210	0.0190	-49	c.117 others(68): Show c.1174+1022_1174+1070delGAGATTTCCGTGCATGTTGGGTATAG GTACTGTGTCATCCACACGGTAT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC2_chr19_411589_466033	429664	TACCGTGT others(42): Show TACCGTGTGGATGACGCAGTACCTATACCCAACATGCACGGAAACCTAAC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0206 a0002c0004t0001g0206	1	210	0.0048	-49	c.117 others(67): Show c.1174+971_1174+1019delGTTAGGTTTCCGTGCATGTTGGGTATA GGTACTGCGTCATCCACACGGT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC3_chr9_89000771_89183818	89028689	CTATATCT others(42): Show CTATATCTATATATTCTATATATATCTATATAGAGAATATATATTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp2 HG02886.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0023 a0001c0003t0047 a0001c0001t0023 a0001c0003t0047	a0001c0001t0023g0024 a0001c0003t0047g0007 a0001c0001t0023g0024 a0001c0003t0047g0007	2	186	0.0108	-49	c.165 others(68): Show c.1656+9255_1656+9303delTAGAGAATATATATTCTCTATATAGA TATATATAGAATATATAGATATA	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	11/11			chr9	TogoVar
SHISA5_chr3_48462876_48509174	48483711	TGGGGGGC others(42): Show TGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0135 a0001c0001t0008g0135	1	282	0.0035	-49	c.234 others(66): Show c.234-4503_234-4455delGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISAL1_chr22_44238665_44317951	44256120	TGGCTCTC others(42): Show TGGCTCTCCTGGGTCTCAGGCCCTTGACTCATAGTGGAACTCACACCATC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp2 HG03041.hp2 others(1): Show HG02145.hp2 HG02886.hp2 HG03041.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0017 a0001c0002t0040 a0001c0002t0078 others(1): Show a0001c0001t0017 a0001c0002t0040 a0001c0002t0078 a0001c0003t0017	a0001c0001t0017g0036 a0001c0002t0040g0034 a0001c0002t0078g0246 others(1): Show a0001c0001t0017g0036 a0001c0002t0040g0034 a0001c0002t0078g0246 a0001c0003t0017g0035	4	378	0.0106	-49	c.600 others(66): Show c.600-6484_600-6436delGATGGTGTGAGTTCCACTATGAGTCAAG GGCCTGAGACCCAGGAGAGCC	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SIL1_chr5_138941724_139203368	139056518	AGGCCAGC others(42): Show AGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGACC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	198	0.0051	-49	c.245 others(66): Show c.245-5521_245-5473delGGTCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	3/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139056584	CGGGAGGG others(42): Show CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02559.hp1 others(7): Show HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02970.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0012 a0001c0001 a0001c0002 a0006c0012	a0001c0001t0001 a0001c0002t0001 a0006c0012t0001 a0001c0001t0001 a0001c0002t0001 a0006c0012t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0032 others(7): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0104 a0001c0002t0001g0185 a0006c0012t0001g0095	10	198	0.0505	-49	c.245 others(66): Show c.245-5587_245-5539delTGATGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	3/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139056634	AGGAGGGA others(42): Show AGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02723.hp1 others(3): Show HG01891.hp1 HG02615.hp1 HG02723.hp1 HG02895.hp2 NA18522.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0001 a0002c0006t0001 a0002c0003t0001 a0002c0006t0001	a0002c0003t0001g0034 a0002c0003t0001g0134 a0002c0003t0001g0160 others(3): Show a0002c0003t0001g0034 a0002c0003t0001g0134 a0002c0003t0001g0160 a0002c0003t0001g0161 a0002c0006t0001g0097 a0002c0006t0001g0103	6	198	0.0303	-49	c.245 others(66): Show c.245-5637_245-5589delCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	3/9			chr5	TogoVar
SIM1_chr6_100380009_100469921	100412595	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0294 a0001c0001t0061g0294	1	302	0.0033	-49	c.116 others(68): Show c.1167+8146_1167+8194delTTTCTTTTCTTTCTTTCTTTCCTTCT TTCTTTCCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIMC1_chr5_176233424_176350989	176305708	GGGGGGTC others(42): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18971.hp1 NA18991.hp2 others(4): Show HG03688.hp1 NA18971.hp1 NA18991.hp2 NA18992.hp2 NA19064.hp1 NA19080.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0062 a0001c0001t0001g0079 a0001c0001t0001g0082 others(4): Show a0001c0001t0001g0062 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0273 a0001c0001t0001g0360 a0001c0010t0001g0036	7	349	0.0201	-49	c.173 others(68): Show c.1735-7967_1735-7919delGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGAGGGGGTCAGCCCCCC	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLAIN2_chr4_48336529_48431201	48363409	CCCTCCCG others(42): Show CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTA	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	346	0.0029	-49	c.390 others(66): Show c.390-6414_390-6366delGCGGGGGGCTGACACCCCCACCTACCTC CCGGACGGGGCGGCTGGCCGG	SLAIN2	ENSG00000109171.15	transcript	ENST00000264313.11	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLAIN2_chr4_48336529_48431201	48363574	ACCCCCCA others(42): Show ACCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0163 a0001c0001t0029g0163	1	346	0.0029	-49	c.390 others(66): Show c.390-6253_390-6205delAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGAC	SLAIN2	ENSG00000109171.15	transcript	ENST00000264313.11	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02735.hp2 HG03710.hp2 others(2): Show HG01081.hp1 HG02735.hp2 HG03710.hp2 NA19007.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0043 a0001c0001t0006g0248 a0001c0001t0006g0249 others(1): Show a0001c0001t0006g0043 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0006g0251	5	6	0.8333	-49	c.177 others(66): Show c.177-3574_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1063641	CTCCCCCT others(42): Show CTCCCCCTCCACCCCCACCTCACGAGGCCACAGCCCTCCCGATCTCCACT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00733.hp2 others(65): Show HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01106.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01517.hp1 HG01517.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA18942.hp2 NA18954.hp1 NA18954.hp2 NA18967.hp1 NA18967.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0005 others(23): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0017 a0001c0020 a0001c0028 a0001c0029 a0001c0030 a0001c0035 a0002c0002 a0002c0004 a0002c0008 a0002c0011 a0002c0022 a0002c0025 a0002c0034 a0003c0027 a0004c0033 a0006c0019 a0007c0021 a0008c0036	a0001c0001t0001 a0001c0001t0007 a0001c0001t0018 others(30): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0018 a0001c0001t0019 a0001c0003t0003 a0001c0005t0002 a0001c0006t0001 a0001c0006t0021 a0001c0007t0006 a0001c0009t0002 a0001c0009t0006 a0001c0010t0005 a0001c0013t0003 a0001c0017t0004 a0001c0020t0001 a0001c0028t0002 a0001c0029t0007 a0001c0030t0001 a0001c0035t0001 a0002c0002t0002 a0002c0002t0008 a0002c0004t0001 a0002c0004t0022 a0002c0008t0004 a0002c0011t0002 a0002c0022t0016 a0002c0025t0004 a0002c0034t0002 a0003c0027t0004 a0004c0033t0004 a0006c0019t0009 a0007c0021t0004 a0008c0036t0001	a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0039 others(65): Show a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0007g0090 a0001c0001t0018g0096 a0001c0001t0019g0035 a0001c0003t0003g0002 a0001c0005t0002g0043 a0001c0005t0002g0050 a0001c0006t0001g0028 a0001c0006t0001g0048 a0001c0006t0021g0104 a0001c0007t0006g0023 a0001c0009t0002g0114 a0001c0009t0006g0064 a0001c0010t0005g0009 a0001c0010t0005g0024 a0001c0010t0005g0025 a0001c0010t0005g0026 a0001c0013t0003g0046 a0001c0017t0004g0020 a0001c0017t0004g0021 a0001c0020t0001g0089 a0001c0028t0002g0107 a0001c0029t0007g0012 a0001c0030t0001g0105 a0001c0035t0001g0054 a0002c0002t0002g0040 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0088 a0002c0002t0002g0098 a0002c0002t0002g0102 a0002c0002t0002g0106 a0002c0002t0002g0110 a0002c0002t0008g0099 a0002c0002t0008g0100 a0002c0004t0001g0037 a0002c0004t0001g0070 a0002c0004t0001g0092 a0002c0004t0022g0087 a0002c0008t0004g0080 a0002c0011t0002g0030 a0002c0011t0002g0031 a0002c0011t0002g0034 a0002c0022t0016g0065 a0002c0025t0004g0061 a0002c0034t0002g0091 a0003c0027t0004g0029 a0004c0033t0004g0072 a0006c0019t0009g0013 a0007c0021t0004g0084 a0008c0036t0001g0097	68	101	0.6733	-49	c.273 others(66): Show c.2739+154_2739+202delAGTGGAGATCGGGAGGGCTGTGGCCTCG TGAGGTGGGGGTGGAGGGGGA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC15A1_chr13_98678801_98757672	98729109	CCCAGATT others(42): Show CCCAGATTTGATATTAACTGTAAAATATTGTATTAATATTAATATTAAAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0016 a0007c0013t0016	a0007c0013t0016g0052 a0007c0013t0016g0052	1	405	0.0025	-49	c.5-2 others(62): Show c.5-2299_5-2251delATTTAATATTAATATTAATACAATATTTTACA GTTAATATCAAATCTGG	SLC15A1	ENSG00000088386.17	transcript	ENST00000376503.10	protein_coding	1/22			chr13	TogoVar
SLC15A5_chr12_16183485_16282685	16205555	TATATTCC others(42): Show TATATTCCATAAGAAGGGAAAGGTGCATATATATATACATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	291	0.0034	-49	c.148 others(70): Show c.1484-11151_1484-11103delGTGTGTGTATATGTATATATATAT GCACCTTTCCCTTCTTATGGAATAT	SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	7/8			chr12	TogoVar
SLC16A2_chrX_74416493_74538916	74420675	GCCCGGCC others(42): Show GCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG03041.hp2 others(1): Show HG02615.hp1 HG02809.hp1 HG03041.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0094 a0001c0001t0003g0092 a0001c0001t0006g0013 others(1): Show a0001c0001t0001g0094 a0001c0001t0003g0092 a0001c0001t0006g0013 a0001c0001t0006g0091	4	233	0.0172	-49	c.-96 others(58): Show c.-962_-914delCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCT GGCCCGGCCCAGA	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding		817		chrX	TogoVar
SLC17A6_chr11_22333381_22384503	22339102	TGTTATAT others(42): Show TGTTATATATATATGTTATATATATATGTTATATATATATGTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp1 HG03516.hp1 HG03139.hp2 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0005 a0001c0011t0001 a0001c0001t0001 a0001c0002t0005 a0001c0011t0001	a0001c0001t0001g0304 a0001c0002t0005g0305 a0001c0011t0001g0190 a0001c0001t0001g0304 a0001c0002t0005g0305 a0001c0011t0001g0190	3	448	0.0067	-49	c.86+ others(62): Show c.86+513_86+561delATATATATATGTTATATATAGTTATATATATA TGTTATATATATATGTT	SLC17A6	ENSG00000091664.9	transcript	ENST00000263160.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC17A7_chr19_49424401_49446527	49444282	CTCTGTCT others(42): Show CTCTGTCTTCCTTCCTTTCCCCTTCCTCCTTCCTTTTTCTTTCTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01070.hp2 others(26): Show HG00642.hp2 HG00738.hp1 HG01070.hp2 HG01255.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp2 HG01975.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp2 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp1 HG03225.hp2 HG03516.hp1 HG06807.hp1 NA18941.hp2 NA18980.hp2 NA19057.hp2 NA19060.hp2 NA19080.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0052 others(15): Show a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0113 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0002g0016 a0001c0001t0002g0025 a0001c0001t0002g0038 a0001c0001t0002g0114 a0001c0001t0003g0162	29	226	0.1283	-49	c.-29 others(60): Show c.-2952_-2904delAAGAAGAGAAAGAAAAAGGAAGGAGGAAGGGGAA AGGAAGGAAGACAGA	SLC17A7	ENSG00000104888.10	transcript	ENST00000221485.8	protein_coding		2756		chr19	TogoVar
SLC22A12_chr11_64586220_64607344	64595163	GGATGGAT others(42): Show GGATGGATGGATGGATGGATGGATGGACGGATGGATGGATGTTTGGAATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0197 a0001c0003t0001g0197	1	388	0.0026	-49	c.830 others(66): Show c.830+1387_830+1435delCGGATGGATGGATGTTTGGAATAGATGG ATGGATGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC24A3_chr20_19207642_19727926	19364452	AGTTAACT others(42): Show AGTTAACTTTTTTTTCTTTCTTGAGATAGGGTGTCACTCTGTCACCCAGG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0088 a0002c0019t0001g0088	1	160	0.0063	-49	c.271 others(68): Show c.271+83366_271+83414delGTTAACTTTTTTTTCTTTCTTGAGAT AGGGTGTCACTCTGTCACCCAGG	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	2/16			chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19531085	CACCAATT others(42): Show CACCAATTCTGAACCTGTCCACATGCATCAGGATGGGAGTTGAGCAGAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03195.hp1 HG02572.hp2 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0117 a0002c0002t0001g0078 a0002c0002t0001g0117	2	160	0.0125	-49	c.348 others(68): Show c.348+15522_348+15570delACCAATTCTGAACCTGTCCACATGCA TCAGGATGGGAGTTGAGCAGAAA	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	3/16			chr20	TogoVar
SLC24A4_chr14_92318165_92506481	92392786	ACTGTGTG others(42): Show ACTGTGTGAGGTCACATGGGAGGCGCCATCTGTGAGGAATACCTCTTCCT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG04204.hp2 HG01515.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0098 a0001c0001t0049 a0001c0001t0098	a0001c0001t0049g0180 a0001c0001t0098g0134 a0001c0001t0049g0180 a0001c0001t0098g0134	2	280	0.0071	-49	c.242 others(68): Show c.242-41095_242-41047delGTGAGGAATACCTCTTCCTCTGTGTG AGGTCACATGGGAGGCGCCATCT	SLC24A4	ENSG00000140090.18	transcript	ENST00000532405.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr14	TogoVar

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