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
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0085 a0002c0002t0018g0085	1	217	0.0046	47	c.142 others(64): Show c.142-8255_142-8254insTCTCTCTCTCCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RORA_chr15_60483284_61234302	61053863	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0117 a0001c0001t0022g0117	1	117	0.0085	47	c.166 others(68): Show c.166+175189_166+175190insATATATATATATATATATATATAT ATATATATATATATATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	155	0.0065	47	c.-17 others(58): Show c.-1706_-1705insTATATATATATATATATATATATATATATATATT TTTTTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPS15A_chr16_18776295_18795334	18779470	C C	CCCCCCAC others(40): Show CCCCCCACCCCCCATCCCCCCCCCCCCCCCCCCCCCCCCCCCAACCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	348	0.0029	47	c.35 others(58): Show c.3538_*3539insTGGGTTGGGGGGGGGGGGGGGGGGGGGGGGGGGA TGGGGGGTGGGGG	RPS15A	ENSG00000134419.15	transcript	ENST00000322989.8	protein_coding		1824		chr16	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0247 a0001c0001t0043g0247	1	253	0.0040	47	c.-15 others(58): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CGCTCTCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80634268	T T	TGTGTGCA others(40): Show TGTGTGCATACTGTGTGTGTGCGTACTGTGTGTGTGCGTACTGTGTGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00544.hp2 others(34): Show HG00140.hp2 HG00423.hp1 HG00544.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01168.hp2 HG01175.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG02015.hp2 HG02129.hp2 HG02258.hp1 HG02486.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02895.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03491.hp2 HG03669.hp1 NA18944.hp1 NA18963.hp1 NA18980.hp1 NA19009.hp1 NA19057.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0024 a0001c0026 a0001c0027 a0001c0031 a0001c0033 a0001c0044 a0001c0049 a0001c0055 a0001c0070 a0001c0076 a0001c0078 a0001c0079 a0001c0080 a0002c0063 a0003c0069	a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 others(33): Show a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 a0001c0002t0040 a0001c0003t0014 a0001c0003t0038 a0001c0004t0014 a0001c0004t0023 a0001c0006t0022 a0001c0007t0084 a0001c0008t0021 a0001c0010t0056 a0001c0010t0071 a0001c0011t0047 a0001c0013t0021 a0001c0015t0046 a0001c0017t0015 a0001c0019t0042 a0001c0020t0048 a0001c0021t0065 a0001c0022t0022 a0001c0024t0037 a0001c0026t0043 a0001c0027t0016 a0001c0031t0011 a0001c0033t0023 a0001c0044t0045 a0001c0049t0011 a0001c0055t0049 a0001c0070t0020 a0001c0076t0011 a0001c0078t0041 a0001c0079t0050 a0001c0080t0011 a0002c0063t0020 a0003c0069t0044	a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0039g0091 others(34): Show a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0039g0091 a0001c0002t0040g0108 a0001c0003t0014g0105 a0001c0003t0038g0090 a0001c0004t0014g0084 a0001c0004t0014g0101 a0001c0004t0023g0077 a0001c0006t0022g0093 a0001c0007t0084g0007 a0001c0008t0021g0094 a0001c0010t0056g0187 a0001c0010t0071g0188 a0001c0011t0047g0079 a0001c0013t0021g0096 a0001c0015t0046g0082 a0001c0017t0015g0085 a0001c0019t0042g0092 a0001c0020t0048g0097 a0001c0021t0065g0112 a0001c0022t0022g0098 a0001c0024t0037g0095 a0001c0026t0043g0099 a0001c0027t0016g0189 a0001c0031t0011g0073 a0001c0033t0023g0078 a0001c0044t0045g0083 a0001c0049t0011g0081 a0001c0055t0049g0086 a0001c0070t0020g0003 a0001c0076t0011g0087 a0001c0078t0041g0103 a0001c0079t0050g0100 a0001c0080t0011g0080 a0002c0063t0020g0001 a0003c0069t0044g0102	37	194	0.1907	47	c.265 others(64): Show c.265+8481_265+8482insATACTGTGTGTGTGCGTACTGTGTGTGT GCGTACTGTGTGCGTGTGC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80634305	G G	GTACTGTG others(40): Show GTACTGTGTGCGTGTGCGTACTGTGCGTGTGCGTACTGTGCGTGTGCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01516.hp1 HG02273.hp2 others(4): Show HG00438.hp2 HG01516.hp1 HG02273.hp2 HG03195.hp2 HG03831.hp1 HG03834.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0018 others(3): Show a0001c0003 a0001c0008 a0001c0018 a0001c0030 a0001c0051 a0001c0052	a0001c0003t0004 a0001c0008t0036 a0001c0018t0016 others(3): Show a0001c0003t0004 a0001c0008t0036 a0001c0018t0016 a0001c0030t0003 a0001c0051t0060 a0001c0052t0003	a0001c0003t0004g0119 a0001c0008t0036g0002 a0001c0018t0016g0120 others(4): Show a0001c0003t0004g0119 a0001c0008t0036g0002 a0001c0018t0016g0120 a0001c0030t0003g0116 a0001c0030t0003g0117 a0001c0051t0060g0115 a0001c0052t0003g0149	7	158	0.0443	47	c.265 others(64): Show c.265+8519_265+8520insTGCGTGTGCGTACTGTGCGTGTGCGTAC TGTGCGTGTGCATACTGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864386	C C	CTTCTCAC others(40): Show CTTCTCACAGATTTCCTACAGATGGAAAAGGTGAGCGTGATGGCAGGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02165.hp1 NA19070.hp2 HG01934.hp1 HG02165.hp1 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0023 a0001c0003 a0001c0023	a0001c0003t0013 a0001c0003t0038 a0001c0023t0007 a0001c0003t0013 a0001c0003t0038 a0001c0023t0007	a0001c0003t0013g0045 a0001c0003t0038g0090 a0001c0023t0007g0132 a0001c0003t0013g0045 a0001c0003t0038g0090 a0001c0023t0007g0132	3	194	0.0155	47	c.150 others(66): Show c.1509+6517_1509+6563dupTGAGCGTGATGGCAGGTTTCTCACAG ATTTCCTACAGATGGAAAAGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSRP1_chr1_25237249_25252454	25240848	A A	ATGGAGCA others(40): Show ATGGAGCAAGAAACCCCTTCTCTAAAAAATAAAGTGTCTATCCCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	342	0.0029	47	c.17 others(58): Show c.1740_*1741insGCCTGGGATAGACACTTTATTTTTTAGAGAAGGG GTTTCTTGCTCCA	RSRP1	ENSG00000117616.18	transcript	ENST00000243189.12	protein_coding		1400		chr1	TogoVar
RTL8A_chrX_135045932_135057135	135050313	T T	TTATAATA others(40): Show TTATAATACAATTATATAATTGTATTATAATTGTATTATATACAATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	316	0.0032	47	c.14 others(58): Show c.1453_*1454insCAATTGTATATAATACAATTATAATACAATTATA TAATTGTATTATA	RTL8A	ENSG00000203950.7	transcript	ENST00000370775.3	protein_coding		618		chrX	TogoVar
RTP5_chr2_241864729_241878823	241877971	G G	GCCCCCCA others(40): Show GCCCCCCAACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19030.hp2 NA19000.hp2 NA19030.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0009 a0001c0001 a0010c0009	a0001c0001t0031 a0010c0009t0004 a0001c0001t0031 a0010c0009t0004	a0001c0001t0031g0006 a0010c0009t0004g0004 a0001c0001t0031g0006 a0010c0009t0004g0004	2	363	0.0055	47	c.46 others(58): Show c.4697_*4698insCCCCCCAACCCCATCCCTCTCCTCGCTCCCCTCC CTCTCCTGGCCGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4149		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878014	G G	GCCGCCCC others(40): Show GCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	350	0.0029	47	c.47 others(58): Show c.4740_*4741insCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCC TCCCTCTCCCGGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4192		chr2	TogoVar
RXFP2_chr13_31734526_31808389	31759375	G G	GAGAAAGA others(40): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0337 a0001c0002t0002g0337	1	34	0.0294	47	c.241 others(63): Show c.241+973_241+1019dupGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(40): Show CCCTTTCCTTTCCCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0008 a0007c0033t0008	a0007c0033t0008g0049 a0007c0033t0008g0049	1	9	0.1111	47	c.49- others(64): Show c.49-32540_49-32539insCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473442	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG02922.hp2 HG03195.hp1	a0001 a0005 a0001 a0005	a0001c0007 a0005c0046 a0001c0007 a0005c0046	a0001c0007t0016 a0005c0046t0012 a0001c0007t0016 a0005c0046t0012	a0001c0007t0016g0042 a0005c0046t0012g0080 a0001c0007t0016g0042 a0005c0046t0012g0080	2	69	0.0290	47	c.170 others(66): Show c.1708+4275_1708+4276insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCTTTCTTTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33794109	T T	TATACATA others(40): Show TATACATAAATAAATATATATAAATATATACATAATATATATTATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02451.hp1 others(1): Show HG02145.hp2 HG02258.hp1 HG02451.hp1 NA20129.hp1	a0025 a0026 a0028 others(1): Show a0025 a0026 a0028 a0051	a0025c0036 a0026c0117 a0028c0114 others(1): Show a0025c0036 a0026c0117 a0028c0114 a0051c0033	a0025c0036t0010 a0026c0117t0002 a0028c0114t0003 others(1): Show a0025c0036t0010 a0026c0117t0002 a0028c0114t0003 a0051c0033t0003	a0025c0036t0010g0088 a0026c0117t0002g0123 a0028c0114t0003g0011 others(1): Show a0025c0036t0010g0088 a0026c0117t0002g0123 a0028c0114t0003g0011 a0051c0033t0003g0152	4	152	0.0263	47	c.983 others(66): Show c.9830+5652_9830+5653insTACATAAATAAATATATATAAATATA TACATAATATATATTATATAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
SAMHD1_chr20_36885229_36956708	36894453	G G	GAACTCCT others(40): Show GAACTCCTGACCTCAGTAAAGGCAATCATTTAGGCCAGGATGGTCTCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0333 a0001c0002t0015g0333	1	338	0.0030	47	c.174 others(66): Show c.1747-1388_1747-1387insTGAGACCATCCTGGCCTAAATGATTG CCTTTACTGAGGTCAGGAGTT	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	15/15			chr20	TogoVar
SARDH_chr9_133658560_133743352	133668443	T T	TCCCTCCC others(40): Show TCCCTCCCTCTCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0167 a0002c0002t0002g0167	1	217	0.0046	47	c.249 others(66): Show c.2496-1574_2496-1573insGAGGGAGAGAGAGGGTGAGGGGAGAG GGAGGGTGAGGAGAGGGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669252	C C	CCCTCACC others(40): Show CCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCTTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0194 a0003c0003t0001g0194	1	256	0.0039	47	c.249 others(66): Show c.2495+1331_2495+1332insAGAGGGAGGGTGAAGGAGAGGGAAGG AGAGAGAGAGGGAGGGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0022 a0001c0007t0022	a0001c0007t0022g0304 a0001c0007t0022g0304	1	49	0.0204	47	c.98+ others(64): Show c.98+36510_98+36511insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCCTT others(40): Show CCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	165	0.0061	47	c.852 others(64): Show c.852+1461_852+1462insCCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCARF1_chr17_1628858_1650732	1638608	T T	TGGGCGAC others(40): Show TGGGCGACAAGGCCAGCCCTCCCCACCCCCATCACCTCTGACCCACGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00639.hp2 others(41): Show HG00099.hp1 HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02132.hp1 HG02698.hp2 HG02735.hp1 HG03098.hp1 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18948.hp2 NA18956.hp1 NA18964.hp2 NA18979.hp2 NA18985.hp1 NA19055.hp2 NA19058.hp2 NA19066.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0012 a0016	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0006c0014 a0012c0015 a0016c0022	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0004c0004t0002 a0006c0014t0002 a0012c0015t0002 a0016c0022t0002	a0001c0001t0001g0001 a0002c0002t0001g0167 a0002c0002t0002g0008 others(25): Show a0001c0001t0001g0001 a0002c0002t0001g0167 a0002c0002t0002g0008 a0002c0002t0002g0020 a0002c0002t0002g0027 a0002c0002t0002g0045 a0002c0002t0002g0063 a0002c0002t0002g0083 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0162 a0002c0002t0002g0165 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0003g0164 a0002c0002t0005g0046 a0002c0002t0005g0119 a0002c0002t0005g0163 a0002c0002t0005g0174 a0004c0004t0002g0010 a0004c0004t0002g0021 a0004c0004t0002g0048 a0004c0004t0002g0115 a0004c0004t0002g0116 a0004c0004t0002g0120 a0006c0014t0002g0198 a0012c0015t0002g0047 a0016c0022t0002g0062	44	376	0.1170	47	c.136 others(64): Show c.1364+151_1364+197dupCCGTGGGTCAGAGGTGATGGGGGTGGGG AGGGCTGGCCTTGTCGCCC	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCARF1_chr17_1628858_1650732	1638655	G G	GGGGCGAC others(40): Show GGGGCGACAAGGCCAGCCCTCCCCACCCCCCTCACCTCTGACCCACGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0151 a0005c0005t0003g0151	1	389	0.0026	47	c.136 others(64): Show c.1364+150_1364+151insACGTGGGTCAGAGGTGAGGGGGGTGGGG AGGGCTGGCCTTGTCGCCC	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCARF1_chr17_1628858_1650732	1638685	A A	ATCACCTC others(40): Show ATCACCTCTGACCCACGGGGGCGACAAGGCCAGCCCTCCCCACCCCCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01167.hp1 HG02109.hp2 others(22): Show HG00597.hp2 HG01167.hp1 HG02109.hp2 HG02155.hp2 HG02280.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03471.hp2 HG03486.hp1 NA18612.hp1 NA18946.hp1 NA18951.hp2 NA18955.hp2 NA18961.hp2 NA18966.hp1 NA18970.hp2 NA18974.hp1 NA18987.hp2 NA19000.hp2 NA19010.hp1 NA19059.hp1 NA19064.hp2 NA19240.hp1	a0003 a0008 a0026 others(1): Show a0003 a0008 a0026 a0028	a0003c0003 a0008c0008 a0026c0026 others(1): Show a0003c0003 a0008c0008 a0026c0026 a0028c0025	a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 others(3): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0008c0008t0002 a0026c0026t0002 a0028c0025t0002	a0003c0003t0002g0009 a0003c0003t0002g0030 a0003c0003t0002g0035 others(17): Show a0003c0003t0002g0009 a0003c0003t0002g0030 a0003c0003t0002g0035 a0003c0003t0002g0053 a0003c0003t0002g0056 a0003c0003t0002g0060 a0003c0003t0002g0069 a0003c0003t0002g0090 a0003c0003t0002g0094 a0003c0003t0002g0156 a0003c0003t0002g0157 a0003c0003t0002g0176 a0003c0003t0002g0188 a0003c0003t0003g0070 a0003c0003t0003g0088 a0003c0003t0003g0146 a0003c0003t0004g0075 a0008c0008t0002g0076 a0026c0026t0002g0189 a0028c0025t0002g0081	25	394	0.0635	47	c.136 others(64): Show c.1364+120_1364+121insGGGGGGTGGGGAGGGCTGGCCTTGTCGC CCCCGTGGGTCAGAGGTGA	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCARF1_chr17_1628858_1650732	1638685	A A	ATCACCTC others(40): Show ATCACCTCTGACCCACGTGGGCAACAAGGCCAGCCCTCCCCACCCCCC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	370	0.0027	47	c.136 others(64): Show c.1364+120_1364+121insGGGGGGTGGGGAGGGCTGGCCTTGTTGC CCACGTGGGTCAGAGGTGA	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCHIP1_chr3_159268244_159902359	159468756	A A	AATATATA others(40): Show AATATATATATATATATATATAATATAATATATAATATATAATATAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	83	0.0120	47	c.63+ others(66): Show c.63+194894_63+194895insATATAATATATAATATATAATATAAT ATATATATATATATATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963352	G G	GATATATA others(40): Show GATATATATATATATATATATATATATATATATATATGATGGAGATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	195	0.0051	47	c.-27 others(66): Show c.-279-2930_-279-2929insATATCTCCATCATATATATATATATA TATATATATATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN2A_chr2_165234414_165397304	165291519	C C	CTTTTTCT others(40): Show CTTTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18992.hp1 NA18961.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0194 a0001c0001t0002g0098 a0001c0001t0002g0194	2	268	0.0075	47	c.-51 others(64): Show c.-51-4254_-51-4253insTTTTTCTTTCTTTCTTTCTTTTCTTTCT TTCTTTTCTTTCTTTCTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTCTTT others(40): Show CTTTCTTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTCCT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	280	0.0036	47	c.-51 others(64): Show c.-51-4245_-51-4244insTTTCTTTTCTTTCTTTCTTTTCTTTCTT TCTTTCTTTCTTTCTTCCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43339677	C C	CTCTATGC others(40): Show CTCTATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0004 a0004	a0004c0048 a0004c0048	a0004c0048t0066 a0004c0048t0066	a0004c0048t0066g0241 a0004c0048t0066g0241	1	234	0.0043	47	c.89- others(60): Show c.89-443_89-442insATGAGGAGAGTGGGGGAGGGTTGGAGCAATGC TTGTGGGGGCATAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339743	A A	AGCTCCAA others(40): Show AGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCACT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0223 a0002c0002t0002g0223	1	201	0.0050	47	c.89- others(60): Show c.89-509_89-508insAGTGCTTGTGGGGGGATAGAATGAGGAGAGTG GGGGAGGGTTGGAGC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339818	T T	TTCTATCC others(40): Show TTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02809.hp1 others(3): Show HG02109.hp2 HG02630.hp1 HG02809.hp1 HG02897.hp2 HG03098.hp2 HG03486.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0004 a0001c0012 a0001c0021 others(2): Show a0001c0004 a0001c0012 a0001c0021 a0002c0002 a0007c0023	a0001c0004t0005 a0001c0012t0090 a0001c0021t0021 others(3): Show a0001c0004t0005 a0001c0012t0090 a0001c0021t0021 a0002c0002t0002 a0002c0002t0089 a0007c0023t0076	a0001c0004t0005g0077 a0001c0012t0090g0277 a0001c0021t0021g0075 others(3): Show a0001c0004t0005g0077 a0001c0012t0090g0277 a0001c0021t0021g0075 a0002c0002t0002g0072 a0002c0002t0089g0278 a0007c0023t0076g0071	6	127	0.0472	47	c.89- others(60): Show c.89-584_89-583insGTGAGGAGAGTAGGGGAGGGTTGGAGCGATGC TTGTGGGGGGATAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339868	T T	TCCCCCCA others(40): Show TCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0183 a0002c0005t0001g0183	1	278	0.0036	47	c.89- others(60): Show c.89-680_89-634dupGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGT GATGCTTGTGGGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDCCAG8_chr1_243251041_243505091	243327434	T T	TAATTATA others(40): Show TAATTATAATTTTATAGAAATTAAAATTATAATTTATAATTTTATAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	170	0.0059	47	c.106 others(66): Show c.1069-3102_1069-3101insATAATTTTATAGAAATTAAAATTATA ATTTATAATTTTATAGAAATT	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(40): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	3	0.3333	47	c.-19 others(58): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(40): Show ATATATATATATATATATGTATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0013 a0013	a0013c0077 a0013c0077	a0013c0077t0036 a0013c0077t0036	a0013c0077t0036g0188 a0013c0077t0036g0188	1	52	0.0192	47	c.559 others(66): Show c.5594-2538_5594-2537insAAAAAAATATATATATATATATATAT ATACATATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30454536	A A	AATAATAT others(40): Show AATAATATTATTATATATAATCTATAATAATATTATTATATATAATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02572.hp2 others(9): Show HG02257.hp2 HG02280.hp1 HG02572.hp2 HG02723.hp2 HG02886.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03486.hp1 HG06807.hp1 NA19030.hp1	a0004 a0006 a0011 a0004 a0006 a0011	a0004c0004 a0006c0006 a0011c0013 a0004c0004 a0006c0006 a0011c0013	a0004c0004t0001 a0006c0006t0001 a0011c0013t0001 a0004c0004t0001 a0006c0006t0001 a0011c0013t0001	a0004c0004t0001g0013 a0004c0004t0001g0064 a0006c0006t0001g0058 others(2): Show a0004c0004t0001g0013 a0004c0004t0001g0064 a0006c0006t0001g0058 a0006c0006t0001g0059 a0011c0013t0001g0152	12	119	0.1008	47	c.54 others(58): Show c.5484_*5485insAGATTATATATAATAATATTATTATAGATTATAT ATAATAATATTAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4692		chr22	TogoVar
SEMA5A_chr5_9030033_9551075	9353098	G G	GAAAGGAA others(40): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0049 a0001c0004t0010g0049	1	38	0.0263	47	c.125 others(66): Show c.125-15287_125-15286insTCCTTTCCTTTCCTTTCCCTTTCCTT TCCTTTCCTTTCCTTTCCTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353162	G G	GGAAAGGA others(40): Show GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0027 a0001c0008t0027	a0001c0008t0027g0035 a0001c0008t0027g0035	1	96	0.0104	47	c.125 others(66): Show c.125-15351_125-15350insTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SERAC1_chr6_158104519_158173262	158169751	A A	AATATATT others(40): Show AATATATTGTATATTATATATTGTATATTATATAATATATTGTATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01891.hp2 HG02922.hp2 HG01346.hp2 HG01891.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0131 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0001g0131 a0001c0001t0002g0143 a0001c0001t0002g0144	3	274	0.0109	47	c.-16 others(58): Show c.-1614_-1613insAATATACAATATATTATATAATATACAATATATA ATATACAATATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1490		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA21309.hp2 HG02071.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0044 a0001c0001t0024 a0001c0001t0044	a0001c0001t0024g0219 a0001c0001t0044g0068 a0001c0001t0024g0219 a0001c0001t0044g0068	2	96	0.0208	47	c.92 others(58): Show c.9279_*9280insATATATATATATATATATATATATATATATTTTT TTTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERPINB7_chr18_63770418_63810370	63786140	T T	TAATATAA others(40): Show TAATATAAGTATATATATATGTATATATGTATATATATACGTATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(54): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00733.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02083.hp2 HG02145.hp1 HG02148.hp2 HG02293.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG03041.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp2 HG03831.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18974.hp2 NA18980.hp2 NA18988.hp2 NA18989.hp1 NA19001.hp1 NA19001.hp2 NA19006.hp2 NA19010.hp1 NA19062.hp1 NA19076.hp2 NA19078.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0235 a0001c0001t0004g0081 a0002c0002t0003g0045 others(34): Show a0001c0001t0001g0235 a0001c0001t0004g0081 a0002c0002t0003g0045 a0002c0002t0003g0137 a0002c0002t0003g0160 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0196 a0002c0002t0003g0236 a0002c0002t0003g0308 a0002c0002t0004g0003 a0002c0002t0004g0009 a0002c0002t0004g0010 a0002c0002t0004g0011 a0002c0002t0004g0026 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0002t0004g0029 a0002c0002t0004g0076 a0002c0002t0004g0077 a0002c0002t0004g0078 a0002c0002t0004g0079 a0002c0002t0004g0080 a0002c0002t0004g0082 a0002c0002t0004g0084 a0002c0002t0004g0085 a0002c0002t0004g0086 a0002c0002t0004g0087 a0002c0002t0004g0088 a0002c0002t0004g0089 a0002c0002t0004g0090 a0002c0002t0004g0091 a0002c0002t0004g0092 a0002c0002t0004g0093 a0002c0002t0004g0094 a0002c0002t0004g0109	57	430	0.1326	47	c.168 others(64): Show c.168+3601_168+3602insATATAAGTATATATATATGTATATATGT ATATATATACGTATATACA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINF2_chr17_1737871_1760265	1739476	G G	GACAGTGA others(40): Show GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 NA19065.hp2 HG02523.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	2	366	0.0055	47	c.-34 others(58): Show c.-3437_-3436insACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCGGGAC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3394		chr17	TogoVar
SGCZ_chr8_14079845_15243431	14325582	A A	ATATATAA others(40): Show ATATATAATCACATATAGTTGATTATATATAATATATAGTTGATCATG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0062 a0001c0001t0056g0062	1	102	0.0098	47	c.235 others(64): Show c.235-1425_235-1379dupCATGATCAACTATATATTATATATAATC AACTATATGTGATTATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15009305	C C	CCAGATCT others(40): Show CCAGATCTCGTGAGAACTCACTCACTATCCAACACACTTTCAAACCAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG00738.hp2 others(64): Show HG00438.hp2 HG00642.hp1 HG00738.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA18951.hp2 NA18959.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(61): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0072 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0091 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009	a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0003g0019 others(64): Show a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0005g0072 a0001c0001t0005g0090 a0001c0001t0006g0091 a0001c0001t0010g0002 a0001c0001t0012g0004 a0001c0001t0013g0026 a0001c0001t0014g0024 a0001c0001t0017g0011 a0001c0001t0018g0037 a0001c0001t0019g0028 a0001c0001t0020g0025 a0001c0001t0021g0015 a0001c0001t0023g0029 a0001c0001t0024g0031 a0001c0001t0025g0021 a0001c0001t0026g0035 a0001c0001t0027g0010 a0001c0001t0028g0006 a0001c0001t0029g0018 a0001c0001t0030g0034 a0001c0001t0031g0013 a0001c0001t0032g0016 a0001c0001t0033g0003 a0001c0001t0034g0030 a0001c0001t0035g0014 a0001c0001t0036g0012 a0001c0001t0037g0032 a0001c0001t0040g0039 a0001c0001t0041g0009 a0001c0001t0045g0008 a0001c0001t0046g0017 a0001c0001t0048g0051 a0001c0001t0050g0045 a0001c0001t0051g0074 a0001c0001t0052g0077 a0001c0001t0053g0055 a0001c0001t0054g0058 a0001c0001t0056g0062 a0001c0001t0057g0087 a0001c0001t0059g0056 a0001c0001t0060g0071 a0001c0001t0061g0049 a0001c0001t0062g0082 a0001c0001t0064g0069 a0001c0001t0065g0047 a0001c0001t0066g0099 a0001c0001t0067g0068 a0001c0001t0068g0064 a0001c0001t0070g0081 a0001c0001t0072g0066 a0001c0001t0075g0044 a0001c0001t0076g0073 a0001c0001t0078g0093 a0001c0001t0079g0052 a0001c0001t0081g0085 a0001c0001t0083g0057 a0001c0001t0085g0059 a0001c0001t0086g0078 a0001c0001t0088g0054 a0001c0001t0091g0102 a0002c0002t0004g0038 a0002c0002t0007g0048 a0002c0002t0009g0001	67	100	0.6700	47	c.39+ others(66): Show c.39+228279_39+228280insCTGGTTTGAAAGTGTGTTGGATAGTG AGTGAGTTCTCACGAGATCTG	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGO1_chr3_20164484_20191206	20169971	C C	CTTTTTTC others(40): Show CTTTTTTCTTTACTTTTTTTTTTTTATTTTTCTTTTTTTTTTTTTTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0153 a0001c0001t0021g0153	1	428	0.0023	47	c.73 others(56): Show c.732_*733insTTAAAAAAAAAAAAAAGAAAAATAAAAAAAAAAAAG TAAAGAAAAAA	SGO1	ENSG00000129810.15	transcript	ENST00000412997.6	protein_coding	8/8	732		chr3	TogoVar
SIGIRR_chr11_400716_419999	401927	C C	CACCCGCC others(40): Show CACCCGCCCCGCTCACACCGGGACCCCCGCTCACACCCGCCCCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	232	0.0043	47	c.39 others(58): Show c.3968_*3969insTGAGCGGGGCGGGTGTGAGCGGGGGTCCCGGTGT GAGCGGGGCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3788		chr11	TogoVar
SIGIRR_chr11_400716_419999	402828	G G	GCCCCGCT others(40): Show GCCCCGCTCACCCCGGGACCCCGCTCACCCGACCCCGCTCACCCCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0088 a0004c0007t0001g0088	1	149	0.0067	47	c.30 others(58): Show c.3067_*3068insTCCGGGGTGAGCGGGGTCGGGTGAGCGGGGTCCC GGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2887		chr11	TogoVar
SIGIRR_chr11_400716_419999	402828	G G	GCCCCGCT others(40): Show GCCCCGCTCACCCCGGGACCCGCTCACCCCGACCCCGCTCACCCCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(46): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00735.hp2 HG01099.hp2 HG01346.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp2 HG01981.hp1 HG02074.hp1 HG02109.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02615.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03492.hp2 HG03704.hp1 HG03831.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18945.hp2 NA18951.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp2 NA19065.hp1 NA19065.hp2 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA20752.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0005 a0005c0009 a0001c0001 a0003c0005 a0005c0009	a0001c0001t0001 a0001c0001t0004 a0003c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0003c0005t0001 a0005c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0004g0100 a0003c0005t0001g0073 a0003c0005t0001g0076 a0003c0005t0001g0082 a0005c0009t0001g0067 a0005c0009t0001g0071	49	197	0.2487	47	c.30 others(58): Show c.3067_*3068insTCCGGGGTGAGCGGGGTCGGGGTGAGCGGGTCCC GGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2887		chr11	TogoVar
SIGIRR_chr11_400716_419999	403015	C C	CCCCCGCC others(40): Show CCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCACTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(40): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG01346.hp1 HG01517.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18945.hp2 NA18951.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18986.hp1 NA19065.hp2 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(27): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0190 a0001c0001t0001g0195	43	194	0.2216	47	c.28 others(58): Show c.2880_*2881insTGTGAGTGGGGCGGGGGTGAGCGGGGTCCGGGGT GAGCGGGGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2700		chr11	TogoVar

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