Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SCNN1G_chr16_23177745_23221883	23204328	TATATATA others(5): Show TATATATAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0265 a0001c0002t0004g0265	1	320	0.0031	-12	c.107 others(31): Show c.1078-5420_1078-5409delTATATAGAGAGA		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204330	TATATAGA others(5): Show TATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0276 a0001c0002t0004g0276	1	320	0.0031	-12	c.107 others(31): Show c.1078-5418_1078-5407delTATAGAGAGAGA		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCP2D1_chr20_18808783_18819378	18819244	TTTCTTTC others(5): Show TTTCTTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03486.hp2 NA18522.hp1 HG02970.hp2 HG03486.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	3	454	0.0066	-12	c.49 others(23): Show c.4959_*4970delTTCTTTCTTTCC		SCP2D1	ENSG00000132631.6	transcript	ENST00000377428.4	protein_coding					4867		chr20	TogoVar
SCP2_chr1_52922276_53056698	52934592	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	280	0.0036	-12	c.69+ others(27): Show c.69+7154_69+7165delTTTTTTTTTTTT		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52960480	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0277 a0001c0003t0001g0277	1	280	0.0036	-12	c.397 others(27): Show c.397-995_397-984delGTGTGTGTGTGT		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52960717	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	280	0.0036	-12	c.397 others(27): Show c.397-771_397-760delGTGTGTGTGTGT		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53013882	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01167.hp2 others(21): Show HG00639.hp2 HG01109.hp1 HG01167.hp2 HG01243.hp1 HG01884.hp2 HG02055.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp2 NA19043.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0003t0004 a0001c0003t0008 others(4): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0008 a0001c0003t0015 a0001c0004t0004 a0001c0004t0008 a0001c0004t0009	a0001c0003t0001g0007 a0001c0003t0001g0134 a0001c0003t0001g0167 others(21): Show a0001c0003t0001g0007 a0001c0003t0001g0134 a0001c0003t0001g0167 a0001c0003t0001g0169 a0001c0003t0001g0181 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0277 a0001c0003t0004g0131 a0001c0003t0004g0133 a0001c0003t0008g0032 a0001c0003t0008g0033 a0001c0003t0015g0135 a0001c0004t0004g0137 a0001c0004t0004g0140 a0001c0004t0004g0141 a0001c0004t0004g0145 a0001c0004t0004g0146 a0001c0004t0004g0147 a0001c0004t0008g0044 a0001c0004t0009g0171 a0001c0004t0009g0172	24	280	0.0857	-12	c.108 others(29): Show c.1082-988_1082-977delTTTTTTTTTTTT		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53037879	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0144 a0001c0004t0001g0144	1	280	0.0036	-12	c.133 others(29): Show c.1339-998_1339-987delCACACACACACA		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53037950	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp1 HG02630.hp2 others(6): Show HG01109.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02922.hp1 HG03486.hp1 HG06807.hp2 NA19011.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0002t0002 a0001c0003t0001 a0001c0003t0004 others(3): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0004 a0001c0003t0008 a0001c0004t0001 a0001c0005t0007	a0001c0002t0002g0127 a0001c0003t0001g0012 a0001c0003t0001g0167 others(6): Show a0001c0002t0002g0127 a0001c0003t0001g0012 a0001c0003t0001g0167 a0001c0003t0004g0133 a0001c0003t0008g0032 a0001c0004t0001g0144 a0001c0005t0007g0263 a0001c0005t0007g0264 a0001c0005t0007g0265	9	280	0.0321	-12	c.133 others(29): Show c.1339-939_1339-928delCACACACACACA		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCPEP1_chr17_56973131_57011768	56980788	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01433.hp1 HG03654.hp1 others(1): Show HG01346.hp1 HG01433.hp1 HG03654.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0036 a0001c0001t0001g0141 a0001c0001t0001g0142	4	380	0.0105	-12	c.77- others(25): Show c.77-281_77-270delAAAAAAAAAAAA		SCPEP1	ENSG00000121064.13	transcript	ENST00000262288.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
SCRN1_chr7_29915109_29994801	29966159	CAGAGAGA others(5): Show CAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG02976.hp2 HG01243.hp2 HG02572.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0002 a0002c0002t0009g0220 a0002c0002t0009g0002 a0002c0002t0009g0220	3	274	0.0110	-12	c.159 others(29): Show c.159+2738_159+2749delCTCTCTCTCTCT		SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	2/7						chr7	TogoVar
SCRN2_chr17_47832692_47846273	47836758	AAGGAGCT others(5): Show AAGGAGCTGGAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01106.hp2 others(15): Show HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01891.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02896.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0002 a0009c0009t0002 a0001c0001t0002 a0009c0009t0002	a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0025 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0025 a0001c0001t0002g0032 a0009c0009t0002g0018	18	398	0.0452	-12	c.10 others(23): Show c.1074_*1085delGCTCCAGCTCCT		SCRN2	ENSG00000141295.14	transcript	ENST00000290216.14	protein_coding					933		chr17	TogoVar
SCRT1_chr8_144325565_144341482	144336889	ACGGCGGC others(5): Show ACGGCGGCGGCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-12	c.-73 others(21): Show c.-732_-721delCCGCCGCCGCCG		SCRT1	ENSG00000261678.3	transcript	ENST00000569446.3	protein_coding					408		chr8	TogoVar
SCRT2_chr20_656596_680802	674397	TCTCACAC others(5): Show TCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG06807.hp2 HG01884.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0151 a0001c0001t0004g0107 a0001c0001t0001g0151 a0001c0001t0004g0107	2	458	0.0044	-12	c.133 others(29): Show c.133+1060_133+1071delTGTGTGTGTGAG		SCRT2	ENSG00000215397.4	transcript	ENST00000246104.7	protein_coding	1/1						chr20	TogoVar
SCRT2_chr20_656596_680802	674399	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(55): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00423.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG01106.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG02055.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02486.hp1 HG02809.hp2 HG02922.hp2 HG03017.hp1 HG03225.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp1 NA18747.hp1 NA18940.hp1 NA18946.hp1 NA18952.hp2 NA18959.hp2 NA18970.hp2 NA18980.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19056.hp2 NA19070.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0031	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0034 others(38): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0003g0087 a0001c0001t0003g0099 a0001c0001t0004g0017 a0001c0001t0004g0081 a0001c0001t0004g0097 a0001c0001t0006g0036 a0001c0001t0006g0054 a0001c0001t0006g0143 a0001c0001t0007g0237 a0001c0001t0010g0234 a0001c0001t0010g0235 a0001c0001t0010g0245 a0001c0001t0012g0011 a0001c0001t0022g0090 a0001c0001t0024g0149 a0001c0001t0026g0157 a0001c0001t0031g0236	58	458	0.1266	-12	c.133 others(29): Show c.133+1058_133+1069delTGTGTGTGTGTG		SCRT2	ENSG00000215397.4	transcript	ENST00000246104.7	protein_coding	1/1						chr20	TogoVar
SCRT2_chr20_656596_680802	674721	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18991.hp2 NA19067.hp2 NA18954.hp2 NA18991.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0166 a0001c0001t0002g0072 a0001c0001t0001g0166 a0001c0001t0002g0072	3	458	0.0066	-12	c.133 others(27): Show c.133+736_133+747delTACACACACACA		SCRT2	ENSG00000215397.4	transcript	ENST00000246104.7	protein_coding	1/1						chr20	TogoVar
SCTR_chr2_119434843_119529483	119460436	GTGGATGG others(5): Show GTGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	290	0.0035	-12	c.790 others(29): Show c.790+1399_790+1410delTCCATCCATCCA		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	7/12						chr2	TogoVar
SCTR_chr2_119434843_119529483	119477437	TTTTGTTT others(5): Show TTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0216 a0010c0011t0002g0216	1	290	0.0035	-12	c.301 others(29): Show c.301+1362_301+1373delCAAACAAACAAA		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	3/12						chr2	TogoVar
SCTR_chr2_119434843_119529483	119492832	ATATTTAT others(5): Show ATATTTATTTATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02717.hp1 others(3): Show HG02258.hp1 HG02615.hp2 HG02717.hp1 HG02818.hp1 HG02970.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 others(3): Show a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0002g0106 a0001c0001t0003g0049 a0001c0002t0004g0082	6	290	0.0207	-12	c.193 others(29): Show c.193+1584_193+1595delAATAAATAAATA		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	2/12						chr2	TogoVar
SCTR_chr2_119434843_119529483	119512305	TCTTCCCC others(5): Show TCTTCCCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18980.hp2 HG02293.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0146 a0001c0001t0002g0251 a0001c0001t0001g0146 a0001c0001t0002g0251	2	290	0.0069	-12	c.72+ others(29): Show c.72+11838_72+11849delGGGAAGGGGAAG		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12						chr2	TogoVar
SCTR_chr2_119434843_119529483	119512334	CCCTTCCC others(5): Show CCCTTCCCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(46): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00609.hp1 HG01074.hp1 HG01074.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG02040.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02559.hp2 HG02886.hp1 HG02970.hp2 HG03491.hp2 HG03540.hp1 HG03704.hp2 HG03710.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18947.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18982.hp1 NA18990.hp2 NA18998.hp2 NA19065.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19091.hp1 NA20300.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004 a0001c0004t0004 a0001c0005t0004 a0002c0003t0001 a0002c0003t0004 a0011c0010t0001	a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0139 others(46): Show a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0156 a0001c0001t0001g0176 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0273 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0272 a0001c0001t0002g0282 a0001c0001t0003g0015 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0091 a0001c0001t0004g0012 a0001c0001t0004g0016 a0001c0001t0004g0042 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0072 a0001c0002t0001g0140 a0001c0002t0001g0192 a0001c0002t0001g0200 a0001c0002t0004g0045 a0001c0004t0004g0071 a0001c0005t0004g0043 a0002c0003t0001g0096 a0002c0003t0004g0014 a0002c0003t0004g0076 a0011c0010t0001g0257	49	290	0.1690	-12	c.72+ others(29): Show c.72+11809_72+11820delAGAAGGGGAAGG		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12						chr2	TogoVar
SCTR_chr2_119434843_119529483	119512340	CCCTTCTC others(5): Show CCCTTCTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02615.hp2 HG02723.hp1 others(16): Show HG00639.hp1 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03453.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA19030.hp2 NA20129.hp1 NA21309.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 a0003c0006t0005 a0007c0014t0002	a0001c0001t0001g0120 a0001c0001t0001g0153 a0001c0001t0001g0165 others(16): Show a0001c0001t0001g0120 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0244 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0246 a0001c0002t0001g0242 a0001c0002t0005g0097 a0001c0002t0005g0098 a0001c0002t0005g0281 a0003c0006t0005g0168 a0007c0014t0002g0104	19	290	0.0655	-12	c.72+ others(29): Show c.72+11803_72+11814delAGAAGGAGAAGG		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12						chr2	TogoVar
SCTR_chr2_119434843_119529483	119523389	CCGCTATT others(5): Show CCGCTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG02809.hp1 HG01243.hp1 HG02630.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0001t0001 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0280 a0001c0001t0003g0092 a0001c0002t0004g0093 a0001c0001t0001g0280 a0001c0001t0003g0092 a0001c0002t0004g0093	3	290	0.0103	-12	c.72+ others(25): Show c.72+754_72+765delATAATAATAGCG		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12						chr2	TogoVar
SCT_chr11_621309_632181	622956	TGTTCATC others(5): Show TGTTCATCTGTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	-12	c.34 others(23): Show c.3463_*3474delGTACAGATGAAC		SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding					3352		chr11	TogoVar
SCT_chr11_621309_632181	628897	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG03041.hp1 HG01517.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	411	0.0049	-12	c.-17 others(23): Show c.-1766_-1755delGAAAGAAAGAAA		SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding					1717		chr11	TogoVar
SCT_chr11_621309_632181	628947	TTCTTTCT others(5): Show TTCTTTCTTTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	-12	c.-18 others(23): Show c.-1816_-1805delGAAAAAGAAAGA		SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding					1767		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43192632	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01975.hp2 HG02976.hp2 HG01258.hp1 HG01975.hp2 HG02976.hp2	a0001 a0001	a0001c0006 a0001c0051 a0001c0006 a0001c0051	a0001c0006t0011 a0001c0006t0019 a0001c0051t0015 a0001c0006t0011 a0001c0006t0019 a0001c0051t0015	a0001c0006t0011g0223 a0001c0006t0019g0168 a0001c0051t0015g0013 a0001c0006t0011g0223 a0001c0006t0019g0168 a0001c0051t0015g0013	3	280	0.0107	-12	c.11 others(25): Show c.11353_*11364delAAAAAAAAAAAA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding					4647		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43282688	CTTCTTTT others(5): Show CTTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp1 HG03098.hp1 others(3): Show HG02486.hp1 HG02896.hp1 HG03098.hp1 HG03130.hp1 HG03486.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0002c0009 a0001c0006 a0002c0002 a0002c0009	a0001c0006t0015 a0001c0006t0075 a0002c0002t0042 others(3): Show a0001c0006t0015 a0001c0006t0075 a0002c0002t0042 a0002c0002t0050 a0002c0002t0060 a0002c0009t0028	a0001c0006t0015g0005 a0001c0006t0075g0024 a0002c0002t0042g0041 others(3): Show a0001c0006t0015g0005 a0001c0006t0075g0024 a0002c0002t0042g0041 a0002c0002t0050g0204 a0002c0002t0060g0072 a0002c0009t0028g0004	6	280	0.0214	-12	c.484 others(29): Show c.484+8346_484+8357delAAAAAAAAAGAA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43298926	CCTGTAGT others(5): Show CCTGTAGTCCCAG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG06807.hp1 HG02886.hp1 HG06807.hp1	a0002 a0002	a0002c0009 a0002c0014 a0002c0009 a0002c0014	a0002c0009t0025 a0002c0014t0078 a0002c0009t0025 a0002c0014t0078	a0002c0009t0025g0259 a0002c0014t0078g0261 a0002c0009t0025g0259 a0002c0014t0078g0261	2	280	0.0071	-12	c.350 others(29): Show c.350-7758_350-7747delCTGGGACTACAG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	3/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43323588	ACATCCAT others(5): Show ACATCCATCCATC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp1 HG03130.hp2 others(1): Show HG02723.hp1 HG03041.hp1 HG03130.hp2 HG03471.hp2	a0001 a0005 a0001 a0005	a0001c0018 a0005c0030 a0005c0031 a0001c0018 a0005c0030 a0005c0031	a0001c0018t0008 a0005c0030t0014 a0005c0031t0017 a0001c0018t0008 a0005c0030t0014 a0005c0031t0017	a0001c0018t0008g0242 a0005c0030t0014g0239 a0005c0030t0014g0240 others(1): Show a0001c0018t0008g0242 a0005c0030t0014g0239 a0005c0030t0014g0240 a0005c0031t0017g0009	4	280	0.0143	-12	c.221 others(29): Show c.221-3535_221-3524delGATGGATGGATG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	2/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43335808	ATGATGAT others(5): Show ATGATGATGATGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00597.hp1 others(50): Show HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG01074.hp1 HG01081.hp2 HG01515.hp1 HG01517.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG03017.hp1 HG03098.hp2 HG03239.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18954.hp2 NA18962.hp1 NA18966.hp2 NA18971.hp1 NA18983.hp2 NA18994.hp1 NA18995.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19066.hp1 NA19080.hp2 NA19083.hp2 NA19087.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0008 a0010 a0012	a0001c0003 a0001c0004 a0001c0008 others(15): Show a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0013 a0001c0022 a0002c0002 a0002c0005 a0002c0027 a0002c0037 a0002c0059 a0003c0001 a0003c0007 a0004c0011 a0006c0015 a0008c0017 a0010c0029 a0012c0032	a0001c0003t0003 a0001c0004t0004 a0001c0004t0039 others(25): Show a0001c0003t0003 a0001c0004t0004 a0001c0004t0039 a0001c0008t0009 a0001c0008t0020 a0001c0012t0003 a0001c0012t0096 a0001c0013t0004 a0001c0013t0036 a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0002t0013 a0002c0002t0059 a0002c0002t0095 a0002c0005t0001 a0002c0027t0001 a0002c0037t0070 a0002c0059t0001 a0003c0001t0001 a0003c0001t0023 a0003c0007t0001 a0004c0011t0006 a0006c0015t0007 a0008c0017t0057 a0010c0029t0007 a0012c0032t0002	a0001c0003t0003g0079 a0001c0003t0003g0090 a0001c0003t0003g0123 others(50): Show a0001c0003t0003g0079 a0001c0003t0003g0090 a0001c0003t0003g0123 a0001c0004t0004g0120 a0001c0004t0004g0124 a0001c0004t0004g0252 a0001c0004t0039g0108 a0001c0008t0009g0115 a0001c0008t0020g0091 a0001c0012t0003g0097 a0001c0012t0096g0277 a0001c0013t0004g0083 a0001c0013t0004g0099 a0001c0013t0004g0116 a0001c0013t0036g0098 a0001c0022t0001g0254 a0002c0002t0001g0122 a0002c0002t0002g0080 a0002c0002t0002g0086 a0002c0002t0002g0096 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0117 a0002c0002t0010g0114 a0002c0002t0013g0100 a0002c0002t0059g0103 a0002c0002t0095g0278 a0002c0005t0001g0094 a0002c0027t0001g0253 a0002c0037t0070g0255 a0002c0059t0001g0119 a0003c0001t0001g0081 a0003c0001t0001g0082 a0003c0001t0001g0087 a0003c0001t0001g0088 a0003c0001t0001g0101 a0003c0001t0001g0104 a0003c0001t0001g0110 a0003c0001t0001g0112 a0003c0001t0001g0118 a0003c0001t0001g0125 a0003c0001t0001g0202 a0003c0001t0001g0211 a0003c0001t0023g0109 a0003c0007t0001g0102 a0003c0007t0001g0105 a0004c0011t0006g0089 a0006c0015t0007g0092 a0008c0017t0057g0121 a0010c0029t0007g0095 a0012c0032t0002g0019	53	280	0.1893	-12	c.220 others(29): Show c.220+3284_220+3295delCCATCATCATCA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	2/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43340481	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp2 HG01515.hp1 others(16): Show HG00597.hp1 HG01081.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG02735.hp1 HG02818.hp2 HG03516.hp2 HG03669.hp1 HG03704.hp1 HG04184.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp2 NA18966.hp1 NA18966.hp2 NA19002.hp1 NA19043.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0012	a0001c0003 a0001c0006 a0001c0008 others(8): Show a0001c0003 a0001c0006 a0001c0008 a0001c0013 a0002c0002 a0002c0014 a0003c0001 a0003c0007 a0004c0011 a0006c0015 a0012c0032	a0001c0003t0003 a0001c0006t0011 a0001c0008t0020 others(9): Show a0001c0003t0003 a0001c0006t0011 a0001c0008t0020 a0001c0013t0004 a0002c0002t0002 a0002c0002t0010 a0002c0014t0026 a0003c0001t0001 a0003c0007t0002 a0004c0011t0006 a0006c0015t0007 a0012c0032t0002	a0001c0003t0003g0079 a0001c0003t0003g0090 a0001c0006t0011g0150 others(16): Show a0001c0003t0003g0079 a0001c0003t0003g0090 a0001c0006t0011g0150 a0001c0008t0020g0091 a0001c0013t0004g0083 a0002c0002t0002g0080 a0002c0002t0002g0086 a0002c0002t0010g0147 a0002c0014t0026g0130 a0003c0001t0001g0081 a0003c0001t0001g0082 a0003c0001t0001g0084 a0003c0001t0001g0087 a0003c0001t0001g0088 a0003c0001t0001g0093 a0003c0007t0002g0085 a0004c0011t0006g0089 a0006c0015t0007g0092 a0012c0032t0002g0019	19	280	0.0679	-12	c.89- others(27): Show c.89-1258_89-1247delGTGTGTGTGTGT		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43344508	GCACACAC others(5): Show GCACACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03041.hp2 NA18906.hp1 others(1): Show HG02976.hp2 HG03041.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0020 a0001c0051 others(1): Show a0001c0004 a0001c0020 a0001c0051 a0001c0054	a0001c0004t0016 a0001c0020t0017 a0001c0051t0015 others(1): Show a0001c0004t0016 a0001c0020t0017 a0001c0051t0015 a0001c0054t0030	a0001c0004t0016g0015 a0001c0020t0017g0014 a0001c0051t0015g0013 others(1): Show a0001c0004t0016g0015 a0001c0020t0017g0014 a0001c0051t0015g0013 a0001c0054t0030g0017	4	280	0.0143	-12	c.-12 others(23): Show c.-1259_-1248delTGTGTGTGTGTG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding					1137		chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9045602	GACAGACA others(5): Show GACAGACAGACAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp1 HG03831.hp2 others(2): Show HG00280.hp1 HG01109.hp1 HG03831.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0007c0007	a0001c0001t0003 a0002c0002t0002 a0003c0003t0002 others(1): Show a0001c0001t0003 a0002c0002t0002 a0003c0003t0002 a0007c0007t0011	a0001c0001t0003g0302 a0002c0002t0002g0057 a0003c0003t0002g0153 others(2): Show a0001c0001t0003g0302 a0002c0002t0002g0057 a0003c0003t0002g0153 a0007c0007t0011g0263 a0007c0007t0011g0266	5	358	0.0140	-12	c.200 others(31): Show c.2002+1742_2002+1753delGTGTCTGTCTGT		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	16/22						chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9045606	GACAGACA others(5): Show GACAGACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0287 a0001c0001t0004g0287	1	358	0.0028	-12	c.200 others(31): Show c.2002+1738_2002+1749delGTGTGTGTCTGT		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	16/22						chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9051182	TTATCTAT others(5): Show TTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02622.hp1 others(8): Show HG02258.hp1 HG02451.hp1 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03453.hp2 HG03540.hp2 NA19030.hp2	a0002 a0003 a0007 others(2): Show a0002 a0003 a0007 a0008 a0009	a0002c0002 a0003c0003 a0003c0025 others(3): Show a0002c0002 a0003c0003 a0003c0025 a0007c0007 a0008c0008 a0009c0031	a0002c0002t0001 a0002c0002t0005 a0002c0002t0009 others(5): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0009 a0003c0003t0005 a0003c0025t0010 a0007c0007t0008 a0008c0008t0006 a0009c0031t0005	a0002c0002t0001g0010 a0002c0002t0005g0006 a0002c0002t0009g0007 others(8): Show a0002c0002t0001g0010 a0002c0002t0005g0006 a0002c0002t0009g0007 a0003c0003t0005g0205 a0003c0025t0010g0143 a0007c0007t0008g0223 a0008c0008t0006g0148 a0008c0008t0006g0172 a0008c0008t0006g0188 a0008c0008t0006g0189 a0009c0031t0005g0212	11	358	0.0307	-12	c.153 others(29): Show c.1535-484_1535-473delGATAGATAGATA		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	13/22						chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9051221	TCTATCTA others(5): Show TCTATCTACCTAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02976.hp1 HG00741.hp2 HG02976.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0001 a0005c0005t0010 a0003c0003t0001 a0005c0005t0010	a0003c0003t0001g0147 a0005c0005t0010g0037 a0003c0003t0001g0147 a0005c0005t0010g0037	2	358	0.0056	-12	c.153 others(29): Show c.1535-523_1535-512delGTAGGTAGATAG		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	13/22						chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9058595	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01255.hp1 HG00140.hp1 HG01255.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0008 a0003c0003t0005 a0001c0001t0008 a0003c0003t0005	a0001c0001t0008g0349 a0003c0003t0005g0158 a0001c0001t0008g0349 a0003c0003t0005g0158	2	358	0.0056	-12	c.109 others(29): Show c.1090+696_1090+707delTTTTTTTTTTTT		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	9/22						chr11	TogoVar
SCYGR1_chr2_227382683_227392949	227387225	CTCTCTCT others(5): Show CTCTCTCTATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0000 a0004c0005t0000	a0004c0005t0000g0000 a0004c0005t0000g0000	1	454	0.0022	-12	c.44 others(21): Show c.446_*457delTATATAGAGAGA		SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding					457		chr2	TogoVar
SCYGR2_chr2_227593893_227604255	227598928	CGGTGGCC others(5): Show CGGTGGCCGCTGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00642.hp1 HG00738.hp2 HG01069.hp1 others(15): Show HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01192.hp1 HG01261.hp2 HG03831.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18960.hp2 NA18966.hp2 NA18990.hp1 NA19003.hp1 NA19012.hp1 NA20805.hp1	a0006 a0006	a0006c0007 a0006c0026 a0006c0007 a0006c0026	a0006c0007t0000 a0006c0026t0000 a0006c0007t0000 a0006c0026t0000	a0006c0007t0000g0000 a0006c0026t0000g0000 a0006c0007t0000g0000 a0006c0026t0000g0000	18	469	0.0384	-12	c.43_ others(17): Show c.43_54delCGCTGTGGTGGC	p.Arg others(11): Show p.Arg15_Gly18del	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding	1/1	43/363	43/363	15/120		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCYGR2_chr2_227593893_227604255	227598949	CGGTGGTG others(5): Show CGGTGGTGGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0000 a0001c0021t0000	a0001c0021t0000g0000 a0001c0021t0000g0000	1	469	0.0021	-12	c.81_ others(17): Show c.81_92delTGGTGGTGGCTG	p.Gly others(11): Show p.Gly28_Cys31del	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding	1/1	81/363	81/363	27/120		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCYGR2_chr2_227593893_227604255	227598985	CGGTGGTG others(5): Show CGGTGGTGGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00733.hp2 HG01069.hp2 NA18957.hp1 HG00733.hp2 HG01069.hp2 NA18957.hp1	a0012 a0014 a0012 a0014	a0012c0013 a0014c0022 a0012c0013 a0014c0022	a0012c0013t0000 a0014c0022t0000 a0012c0013t0000 a0014c0022t0000	a0012c0013t0000g0000 a0014c0022t0000g0000 a0012c0013t0000g0000 a0014c0022t0000g0000	3	469	0.0064	-12	c.117 others(19): Show c.117_128delTGGTGGTGGCTG	p.Gly others(11): Show p.Gly40_Cys43del	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding	1/1	117/363	117/363	39/120		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCYGR2_chr2_227593893_227604255	227599009	TGGTGGTG others(5): Show TGGTGGTGGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01975.hp2 HG01975.hp2	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0000 a0014c0025t0000	a0014c0025t0000g0000 a0014c0025t0000g0000	1	469	0.0021	-12	c.141 others(19): Show c.141_152delCGGTGGTGGCTG	p.Gly others(11): Show p.Gly48_Cys51del	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding	1/1	141/363	141/363	47/120		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCYGR3_chr2_227609538_227619840	227614733	GCCACAGA others(5): Show GCCACAGACACCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01106.hp1 HG01109.hp2 HG01884.hp1 others(35): Show HG01106.hp1 HG01109.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0003c0010 a0004c0008 a0003c0004 a0003c0010 a0004c0008	a0003c0004t0000 a0003c0010t0000 a0004c0008t0000 a0003c0004t0000 a0003c0010t0000 a0004c0008t0000	a0003c0004t0000g0000 a0003c0010t0000g0000 a0004c0008t0000g0000 a0003c0004t0000g0000 a0003c0010t0000g0000 a0004c0008t0000g0000	38	462	0.0823	-12	c.96_ others(18): Show c.96_107delTGGTGTCTGTGG	p.Gly others(11): Show p.Gly33_Gly36del	SCYGR3	ENSG00000284704.1	transcript	ENST00000642029.1	protein_coding	1/1	107/303	96/303	32/100			chr2	TogoVar
SCYGR3_chr2_227609538_227619840	227614748	ACAGCCAC others(5): Show ACAGCCACCACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0000 a0003c0004t0000	a0003c0004t0000g0000 a0003c0004t0000g0000	1	462	0.0022	-12	c.81_ others(17): Show c.81_92delCGGTGGTGGCTG	p.Gly others(11): Show p.Gly28_Cys31del	SCYGR3	ENSG00000284704.1	transcript	ENST00000642029.1	protein_coding	1/1	92/303	81/303	27/100			chr2	TogoVar
SCYGR3_chr2_227609538_227619840	227617593	CGGTGGTG others(5): Show CGGTGGTGGCTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG01515.hp1 others(15): Show HG00423.hp2 HG00438.hp1 HG01515.hp1 HG01517.hp2 HG02027.hp1 HG02071.hp2 HG02080.hp1 HG02602.hp1 HG03927.hp1 NA18612.hp1 NA18747.hp2 NA18949.hp1 NA18965.hp1 NA18979.hp1 NA19056.hp2 NA19079.hp1 NA19089.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0000 a0001c0002t0000 a0001c0001t0000 a0001c0002t0000	a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0001t0000g0000 a0001c0002t0000g0000	18	462	0.0390	-12	c.-27 others(23): Show c.-2765_-2754delACAGCCACCACC		SCYGR3	ENSG00000284704.1	transcript	ENST00000642029.1	protein_coding					2754		chr2	TogoVar
SCYGR4_chr2_227612498_227622815	227614733	GCCACAGA others(5): Show GCCACAGACACCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG01884.hp1 others(35): Show HG01106.hp1 HG01109.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0000 a0001c0002t0000 a0002c0003t0000 a0001c0001t0000 a0001c0002t0000 a0002c0003t0000	a0001c0001t0000g0000 a0001c0002t0000g0000 a0002c0003t0000g0000 a0001c0001t0000g0000 a0001c0002t0000g0000 a0002c0003t0000g0000	38	458	0.0830	-12	c.-27 others(23): Show c.-2764_-2753delCCACAGACACCA		SCYGR4	ENSG00000284631.2	transcript	ENST00000641801.2	protein_coding					2764		chr2	TogoVar
SCYGR4_chr2_227612498_227622815	227614748	ACAGCCAC others(5): Show ACAGCCACCACCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	1	458	0.0022	-12	c.-27 others(23): Show c.-2749_-2738delCAGCCACCACCG		SCYGR4	ENSG00000284631.2	transcript	ENST00000641801.2	protein_coding					2749		chr2	TogoVar
SCYGR4_chr2_227612498_227622815	227617593	CGGTGGTG others(5): Show CGGTGGTGGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp1 HG00438.hp2 HG01515.hp1 others(15): Show HG00423.hp1 HG00438.hp2 HG01515.hp1 HG01517.hp2 HG02027.hp1 HG02071.hp2 HG02080.hp2 HG02602.hp1 HG03927.hp1 NA18612.hp1 NA18747.hp1 NA18949.hp1 NA18965.hp1 NA18979.hp1 NA19056.hp2 NA19079.hp2 NA19089.hp2 NA20805.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0000 a0004c0006t0000	a0004c0006t0000g0000 a0004c0006t0000g0000	18	458	0.0393	-12	c.111 others(19): Show c.111_122delTGGTGGCTGTGG	p.Gly others(11): Show p.Gly38_Gly41del	SCYGR4	ENSG00000284631.2	transcript	ENST00000641801.2	protein_coding	1/1	111/318	111/318	37/105		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCYGR5_chr2_227661804_227672061	227664655	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00642.hp1 others(31): Show HG00438.hp1 HG00609.hp1 HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01167.hp1 HG01516.hp2 HG01517.hp1 HG02015.hp2 HG02027.hp2 HG02109.hp2 HG02273.hp1 HG02809.hp1 HG03225.hp2 NA18612.hp2 NA18747.hp1 NA18951.hp1 NA18953.hp2 NA18961.hp1 NA18962.hp1 NA19002.hp1 NA19004.hp2 NA19010.hp2 NA19012.hp2 NA19055.hp2 NA19057.hp2 NA19065.hp2 NA19067.hp2 NA19077.hp2 NA19081.hp1 NA19083.hp1 NA19090.hp2 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0010	a0001c0001 a0002c0004 a0004c0005 others(2): Show a0001c0001 a0002c0004 a0004c0005 a0006c0009 a0010c0016	a0001c0001t0000 a0002c0004t0000 a0004c0005t0000 others(2): Show a0001c0001t0000 a0002c0004t0000 a0004c0005t0000 a0006c0009t0000 a0010c0016t0000	a0001c0001t0000g0000 a0002c0004t0000g0000 a0004c0005t0000g0000 others(2): Show a0001c0001t0000g0000 a0002c0004t0000g0000 a0004c0005t0000g0000 a0006c0009t0000g0000 a0010c0016t0000g0000	34	460	0.0739	-12	c.-21 others(23): Show c.-2148_-2137delAAAAAAAAAAAA		SCYGR5	ENSG00000284667.1	transcript	ENST00000641976.1	protein_coding					2148		chr2	TogoVar

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