Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
CTNND2_chr5_10966836_11909446	11337584	TATC TATC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp1 HG02258.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0003t0001g0007 a0001c0004t0001g0019	2	26	0.0769	-3	c.162 others(22): Show c.1628+8785_1628+8787delGAT		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	9/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11348437	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03130.hp2 HG03225.hp2 others(1): Show HG00738.hp2 HG03130.hp2 HG03225.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0006t0002 a0001c0007t0001 a0001c0001t0001 a0001c0006t0002 a0001c0007t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0006t0002g0025 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0006t0002g0025 a0001c0007t0001g0002	4	26	0.1539	-3	c.137 others(22): Show c.1373-1813_1373-1811delTTT		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	8/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11349802	TAAC TAAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp1 HG02258.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0003t0001g0007 a0001c0004t0001g0019	2	26	0.0769	-3	c.137 others(22): Show c.1373-3178_1373-3176delGTT		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	8/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11432783	GCAA GCAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG02258.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0026 a0001c0002t0001g0013 a0001c0001t0003g0026 a0001c0002t0001g0013	2	26	0.0769	-3	c.288 others(22): Show c.288-20717_288-20715delTTG		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11441368	ATTT ATTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03209.hp2 HG03453.hp1 others(2): Show HG02922.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 a0001c0001 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 a0001c0001t0001 a0001c0005t0001 a0001c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0024 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0005t0001g0020 a0001c0009t0001g0008	5	26	0.1923	-3	c.288 others(22): Show c.288-29302_288-29300delAAA		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11518298	GAAT GAAT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02258.hp1 HG02258.hp2 others(16): Show HG00738.hp2 HG02258.hp1 HG02258.hp2 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002 a0001c0007t0001 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0003g0026 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0005t0001g0020 a0001c0006t0002g0025 a0001c0007t0001g0002 a0001c0009t0001g0008 a0002c0008t0001g0014	19	26	0.7308	-3	c.287 others(22): Show c.287+46643_287+46645delATT		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11556868	TCAA TCAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp1 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0012 a0001c0004t0001g0019 a0001c0001t0001g0012 a0001c0004t0001g0019	2	26	0.0769	-3	c.287 others(20): Show c.287+8073_287+8075delTTG		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11620032	CGAT CGAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG02258.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0026 a0001c0002t0001g0013 a0001c0001t0003g0026 a0001c0002t0001g0013	2	26	0.0769	-3	c.175 others(22): Show c.175-54979_175-54977delATC		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11629259	AAAC AAAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03225.hp2 NA19068.hp2 HG03130.hp2 HG03225.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0006t0002g0025 a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0006t0002g0025	3	26	0.1154	-3	c.175 others(22): Show c.175-64206_175-64204delGTT		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11724054	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG03209.hp1 others(5): Show HG02258.hp1 HG02647.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 NA18522.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0009t0001g0008 a0002c0008t0001g0014	8	26	0.3077	-3	c.174 others(20): Show c.174+8079_174+8081delTTT		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11788295	CAGT CAGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG02258.hp1 others(15): Show HG00738.hp1 HG00738.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02922.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 NA19043.hp1 NA19068.hp1 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0003g0026 a0001c0002t0001g0001 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0005t0001g0020 a0001c0007t0001g0002 a0001c0009t0001g0008	18	26	0.6923	-3	c.38- others(20): Show c.38-56026_38-56024delACT		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11817242	GAGA GAGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18522.hp2 HG03453.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0008 a0001c0005 a0002c0008	a0001c0005t0001 a0002c0008t0001 a0001c0005t0001 a0002c0008t0001	a0001c0005t0001g0020 a0002c0008t0001g0014 a0001c0005t0001g0020 a0002c0008t0001g0014	2	26	0.0769	-3	c.38- others(20): Show c.38-84973_38-84971delTCT		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11817257	GAGA GAGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG02258.hp1 others(8): Show HG00738.hp1 HG00738.hp2 HG02258.hp1 HG02647.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 NA18522.hp1 NA19043.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0021 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0007t0001g0002	11	26	0.4231	-3	c.38- others(20): Show c.38-84988_38-84986delTCT		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11872675	GTCT GTCT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19043.hp2 NA19068.hp1 others(1): Show HG02922.hp2 NA19043.hp2 NA19068.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0002t0001g0001 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0002t0001g0001 a0001c0002t0001g0006	4	26	0.1539	-3	c.37+ others(20): Show c.37+31139_37+31141delAGA		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11877721	CCAT CCAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG02258.hp1 others(22): Show HG00738.hp1 HG00738.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002 a0001c0007t0001 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(22): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0003g0026 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0005t0001g0020 a0001c0006t0002g0025 a0001c0007t0001g0002 a0001c0009t0001g0008 a0002c0008t0001g0014	25	26	0.9615	-3	c.37+ others(20): Show c.37+26093_37+26095delATG		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11880567	GTAC GTAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02258.hp1 HG02258.hp2 others(15): Show HG00738.hp1 HG02258.hp1 HG02258.hp2 HG02647.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19068.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0002 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0002t0001g0001 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0006t0002g0025 a0001c0009t0001g0008 a0002c0008t0001g0014	18	26	0.6923	-3	c.37+ others(20): Show c.37+23247_37+23249delGTA		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21						chr5	TogoVar
CTNS_chr17_3631760_3668103	3637812	TCTC TCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(16): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG01168.hp1 HG01258.hp2 HG01433.hp1 HG01515.hp1 HG02683.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03239.hp1 HG03486.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0005	a0001c0001t0021 a0001c0003t0003 a0001c0004t0008 others(6): Show a0001c0001t0021 a0001c0003t0003 a0001c0004t0008 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0002t0067 a0002c0002t0073 a0003c0005t0008	a0001c0001t0021g0252 a0001c0003t0003g0202 a0001c0003t0003g0255 others(13): Show a0001c0001t0021g0252 a0001c0003t0003g0202 a0001c0003t0003g0255 a0001c0004t0008g0037 a0002c0002t0004g0035 a0002c0002t0004g0253 a0002c0002t0007g0033 a0002c0002t0007g0034 a0002c0002t0007g0272 a0002c0002t0010g0201 a0002c0002t0010g0250 a0002c0002t0010g0251 a0002c0002t0010g0254 a0002c0002t0067g0273 a0002c0002t0073g0034 a0003c0005t0008g0301	19	372	0.0511	-3	c.-20 others(18): Show c.-20+500_-20+502delCTC		CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3637848	CCTT CCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02647.hp1 others(3): Show HG02055.hp1 HG02451.hp1 HG02647.hp1 HG02970.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0027 a0001c0004t0057 others(1): Show a0001c0004t0026 a0001c0004t0027 a0001c0004t0057 a0001c0004t0059	a0001c0004t0026g0299 a0001c0004t0026g0300 a0001c0004t0027g0295 others(3): Show a0001c0004t0026g0299 a0001c0004t0026g0300 a0001c0004t0027g0295 a0001c0004t0027g0296 a0001c0004t0057g0298 a0001c0004t0059g0297	6	372	0.0161	-3	c.-20 others(18): Show c.-20+533_-20+535delCTT		CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	2/11						chr17	TogoVar
CTNS_chr17_3631760_3668103	3641384	ATTT ATTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01981.hp2 HG04184.hp2 others(5): Show HG00423.hp1 HG01981.hp2 HG04184.hp2 NA18943.hp1 NA18948.hp1 NA18954.hp1 NA18998.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0051 a0001c0003t0003 others(2): Show a0001c0001t0003 a0001c0001t0051 a0001c0003t0003 a0001c0003t0006 a0001c0003t0024	a0001c0001t0003g0223 a0001c0001t0051g0222 a0001c0003t0003g0206 others(5): Show a0001c0001t0003g0223 a0001c0001t0051g0222 a0001c0003t0003g0206 a0001c0003t0003g0221 a0001c0003t0003g0245 a0001c0003t0003g0247 a0001c0003t0006g0220 a0001c0003t0024g0234	8	372	0.0215	-3	c.61+ others(18): Show c.61+1140_61+1142delTTT		CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
CTPS1_chr1_40974696_41017565	40976952	TAGG TAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG00741.hp1 others(44): Show HG00099.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01515.hp2 HG01981.hp2 HG02056.hp1 HG02698.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03704.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18941.hp1 NA18945.hp2 NA18949.hp2 NA18959.hp2 NA18964.hp1 NA18966.hp2 NA18971.hp2 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18999.hp1 NA19011.hp1 NA19056.hp2 NA19059.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp2 NA19076.hp2 NA19085.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0044 others(30): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0225 a0001c0001t0001g0247 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0075 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0246 a0001c0002t0001g0177	47	388	0.1211	-3	c.-28 others(14): Show c.-2890_-2888delAGG		CTPS1	ENSG00000171793.17	transcript	ENST00000650070.2	protein_coding					2743		chr1	TogoVar
CTPS1_chr1_40974696_41017565	41001601	ATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00558.hp2 others(58): Show HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02074.hp1 HG02129.hp1 HG02155.hp2 HG02735.hp1 HG03491.hp1 HG04228.hp2 NA18940.hp1 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18960.hp2 NA18963.hp1 NA18969.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19054.hp2 NA19059.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19086.hp2 NA19091.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 a0001c0001t0001 a0001c0001t0006 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0015 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0134 a0001c0001t0001g0227 a0001c0001t0001g0242 a0001c0001t0006g0030 a0001c0001t0006g0097 a0001c0003t0001g0027 a0001c0003t0001g0082	61	388	0.1572	-3	c.109 others(20): Show c.1094+487_1094+489delTTA		CTPS1	ENSG00000171793.17	transcript	ENST00000650070.2	protein_coding	10/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
CTPS2_chrX_16582999_16717669	16600991	CAAT CAAT	C C	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	226	0.0044	-3	c.169 others(22): Show c.1691+8547_1691+8549delATT		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	17/18						chrX	TogoVar
CTPS2_chrX_16582999_16717669	16601572	CGGG CGGG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG00735.hp2 others(29): Show HG00609.hp1 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01106.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01515.hp1 HG02004.hp2 HG02074.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02293.hp1 HG02559.hp1 HG02698.hp1 HG02818.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA18906.hp1 NA18969.hp2 NA19043.hp1 NA19065.hp2 NA19075.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0156 a0001c0001t0002g0006 a0001c0001t0002g0017 others(29): Show a0001c0001t0001g0156 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0041 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0005g0051 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0071 a0001c0002t0002g0075 a0001c0003t0002g0136	32	226	0.1416	-3	c.169 others(22): Show c.1691+7966_1691+7968delCCC		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	17/18						chrX	TogoVar
CTPS2_chrX_16582999_16717669	16601739	CATA CATA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01361.hp2 HG01256.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0110 a0001c0001t0002g0049 a0001c0001t0001g0110 a0001c0001t0002g0049	2	226	0.0089	-3	c.169 others(22): Show c.1691+7799_1691+7801delTAT		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	17/18						chrX	TogoVar
CTPS2_chrX_16582999_16717669	16616494	AGAG AGAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	226	0.0044	-3	c.154 others(20): Show c.1546+653_1546+655delCTC		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	16/18						chrX	TogoVar
CTPS2_chrX_16582999_16717669	16623046	CTAG CTAG	C C	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	226	0.0044	-3	c.139 others(22): Show c.1394-2717_1394-2715delCTA		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	14/18						chrX	TogoVar
CTPS2_chrX_16582999_16717669	16623792	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	226	0.0044	-3	c.139 others(22): Show c.1394-3463_1394-3461delAAA		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	14/18						chrX	TogoVar
CTPS2_chrX_16582999_16717669	16633084	GTTT GTTT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show HG00733.hp2 HG01069.hp1 HG01070.hp1 HG02280.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03453.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0009 a0001c0001t0003g0140 a0001c0001t0003g0141 others(8): Show a0001c0001t0003g0009 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0200 a0001c0001t0003g0214 a0001c0001t0007g0162 a0001c0001t0007g0165	11	226	0.0487	-3	c.139 others(22): Show c.1393+6060_1393+6062delAAA		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	14/18						chrX	TogoVar
CTPS2_chrX_16582999_16717669	16639778	AAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02074.hp1 HG02145.hp1 others(1): Show HG01074.hp1 HG02074.hp1 HG02145.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0065 a0001c0001t0002g0121 a0001c0001t0002g0221 others(1): Show a0001c0001t0002g0065 a0001c0001t0002g0121 a0001c0001t0002g0221 a0001c0001t0005g0068	4	226	0.0177	-3	c.129 others(20): Show c.1297-538_1297-536delCTT		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18						chrX	TogoVar
CTPS2_chrX_16582999_16717669	16672881	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	226	0.0044	-3	c.109 others(22): Show c.1095-2210_1095-2208delAAA		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	10/18						chrX	TogoVar
CTPS2_chrX_16582999_16717669	16682969	GTTC GTTC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show HG00280.hp1 HG00639.hp1 HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp1 HG01943.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03492.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18956.hp1 NA19006.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0002t0011	a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0022 others(30): Show a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0050 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0139 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0076 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0037 a0001c0002t0002g0075 a0001c0002t0002g0137 a0001c0002t0002g0218 a0001c0002t0011g0074	33	226	0.1460	-3	c.100 others(20): Show c.1005+122_1005+124delGAA		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	9/18						chrX	TogoVar
CTPS2_chrX_16582999_16717669	16697432	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG01074.hp1 others(40): Show HG00140.hp1 HG00621.hp1 HG01074.hp1 HG01169.hp1 HG01169.hp2 HG01516.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02129.hp1 HG02273.hp2 HG02451.hp1 HG02602.hp1 HG02630.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG04115.hp1 NA18747.hp1 NA18945.hp1 NA18956.hp1 NA18960.hp1 NA18989.hp1 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19060.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0016 others(40): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0083 a0001c0001t0001g0119 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0039 a0001c0001t0002g0069 a0001c0001t0002g0161 a0001c0001t0002g0199 a0001c0001t0002g0219 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0004g0037 a0001c0001t0005g0068 a0001c0001t0007g0165 a0001c0001t0009g0001 a0001c0002t0002g0075 a0001c0002t0002g0188 a0001c0002t0002g0218	43	226	0.1903	-3	c.438 others(18): Show c.438+801_438+803delAAA		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	4/18						chrX	TogoVar
CTPS2_chrX_16582999_16717669	16698556	GTTT GTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp1 others(129): Show HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG04115.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18945.hp1 NA18956.hp1 NA18960.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18982.hp1 NA18989.hp1 NA18991.hp1 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19081.hp2 NA19086.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0002t0002 a0001c0002t0011 a0001c0003t0002 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(129): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0161 a0001c0001t0002g0172 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0003g0009 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0200 a0001c0001t0003g0214 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0037 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0071 a0001c0001t0006g0183 a0001c0001t0007g0162 a0001c0001t0007g0165 a0001c0001t0008g0178 a0001c0001t0008g0204 a0001c0001t0009g0001 a0001c0001t0015g0226 a0001c0002t0002g0005 a0001c0002t0002g0021 a0001c0002t0002g0031 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0124 a0001c0002t0002g0135 a0001c0002t0002g0188 a0001c0002t0002g0198 a0001c0002t0002g0203 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0215 a0001c0002t0002g0218 a0001c0002t0011g0074 a0001c0003t0002g0136 a0002c0004t0001g0201	132	226	0.5841	-3	c.338 others(18): Show c.338-223_338-221delAAA		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	3/18						chrX	TogoVar
CTPS2_chrX_16582999_16717669	16700112	CATT CATT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp1 others(132): Show HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG04115.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18945.hp1 NA18956.hp1 NA18960.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18982.hp1 NA18989.hp1 NA18991.hp1 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19081.hp2 NA19086.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0002t0002 a0001c0002t0011 a0001c0003t0002 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(132): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0161 a0001c0001t0002g0172 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0003g0009 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0200 a0001c0001t0003g0214 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0037 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0071 a0001c0001t0006g0183 a0001c0001t0007g0162 a0001c0001t0007g0165 a0001c0001t0008g0178 a0001c0001t0008g0204 a0001c0001t0009g0001 a0001c0001t0015g0226 a0001c0002t0002g0005 a0001c0002t0002g0021 a0001c0002t0002g0031 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0124 a0001c0002t0002g0135 a0001c0002t0002g0137 a0001c0002t0002g0188 a0001c0002t0002g0198 a0001c0002t0002g0203 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0215 a0001c0002t0002g0218 a0001c0002t0011g0074 a0001c0003t0002g0136 a0002c0004t0001g0201	135	226	0.5974	-3	c.167 others(20): Show c.167-1022_167-1020delAAT		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	2/18						chrX	TogoVar
CTPS2_chrX_16582999_16717669	16701393	TAAA TAAA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01070.hp1 others(5): Show HG00733.hp2 HG01069.hp1 HG01070.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0009 a0001c0001t0003g0140 a0001c0001t0003g0141 others(5): Show a0001c0001t0003g0009 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0200 a0001c0001t0007g0162 a0001c0001t0007g0165	8	226	0.0354	-3	c.166 others(20): Show c.166+1341_166+1343delTTT		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	2/18						chrX	TogoVar
CTPS2_chrX_16582999_16717669	16706124	AAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	226	0.0044	-3	c.-39 others(20): Show c.-39-3186_-39-3184delCTT		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	1/18						chrX	TogoVar
CTR9_chr11_10746246_10784746	10747271	TATA TATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(112): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG01099.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02602.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18953.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19063.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0004t0003	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(58): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0171 a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0163 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0013 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0036 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0169 a0001c0002t0001g0203 a0001c0002t0001g0206 a0001c0003t0001g0046 a0001c0003t0001g0182 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0202 a0001c0003t0002g0180 a0001c0003t0005g0048 a0001c0004t0003g0041 a0001c0004t0003g0155 a0001c0004t0003g0157	115	406	0.2833	-3	c.-41 others(14): Show c.-4141_-4139delATA		CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding					3974		chr11	TogoVar
CTR9_chr11_10746246_10784746	10747328	ATAT ATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02630.hp2 HG02257.hp2 HG02630.hp1 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0002 a0001c0007t0001 a0001c0003t0002 a0001c0007t0001	a0001c0003t0002g0188 a0001c0007t0001g0195 a0001c0007t0001g0196 a0001c0003t0002g0188 a0001c0007t0001g0195 a0001c0007t0001g0196	3	406	0.0074	-3	c.-40 others(14): Show c.-4084_-4082delTAT		CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding					3917		chr11	TogoVar
CTR9_chr11_10746246_10784746	10761382	ACCC ACCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(401): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0013 a0002c0006 a0002c0010 a0003c0009 a0004c0011 a0005c0012 a0006c0014 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0004t0003 a0001c0005t0002 a0001c0007t0001 a0001c0008t0001 a0001c0013t0002 a0002c0006t0001 a0002c0010t0001 a0003c0009t0001 a0004c0011t0006 a0005c0012t0002 a0006c0014t0001 a0007c0015t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(206): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0204 a0001c0001t0007g0003 a0001c0001t0008g0026 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0013 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0036 a0001c0002t0001g0058 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0169 a0001c0002t0001g0203 a0001c0002t0001g0206 a0001c0002t0006g0079 a0001c0003t0001g0012 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0108 a0001c0003t0001g0122 a0001c0003t0001g0154 a0001c0003t0001g0182 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0189 a0001c0003t0001g0191 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0205 a0001c0003t0002g0018 a0001c0003t0002g0025 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0113 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0183 a0001c0003t0002g0184 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0003t0002g0192 a0001c0003t0004g0159 a0001c0003t0004g0160 a0001c0003t0005g0048 a0001c0004t0003g0041 a0001c0004t0003g0042 a0001c0004t0003g0155 a0001c0004t0003g0156 a0001c0004t0003g0157 a0001c0005t0002g0001 a0001c0005t0002g0170 a0001c0007t0001g0195 a0001c0007t0001g0196 a0001c0008t0001g0110 a0001c0013t0002g0043 a0002c0006t0001g0032 a0002c0010t0001g0133 a0003c0009t0001g0098 a0004c0011t0006g0076 a0005c0012t0002g0167 a0006c0014t0001g0011 a0007c0015t0002g0158	404	406	0.9951	-3	c.742 others(18): Show c.742-564_742-562delCCC		CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding	6/24						chr11	TogoVar
CTRC_chr1_15433443_15454242	15448123	CCTT CCTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02647.hp1 HG02886.hp1 others(2): Show HG01884.hp2 HG02647.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	5	428	0.0117	-3	c.15 others(14): Show c.1538_*1540delCTT		CTRC	ENSG00000162438.12	transcript	ENST00000375949.5	protein_coding	8/8				1538	INFO_REALIGN_3_PRIME	chr1	TogoVar
CTRC_chr1_15433443_15454242	15449494	AGGG AGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01884.hp1 HG02647.hp2 others(2): Show HG00642.hp2 HG01884.hp1 HG02647.hp2 HG03209.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0012 a0002c0004t0023 a0001c0001t0012 a0002c0004t0023	a0001c0001t0012g0017 a0002c0004t0023g0041 a0001c0001t0012g0017 a0002c0004t0023g0041	5	428	0.0117	-3	c.29 others(14): Show c.2906_*2908delGGG		CTRC	ENSG00000162438.12	transcript	ENST00000375949.5	protein_coding					253		chr1	TogoVar
CTSA_chr20_45886335_45903820	45891598	CCTG CCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(309): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0004c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(50): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0002g0002 a0001c0003t0001g0001 a0001c0003t0001g0005 a0001c0003t0001g0012 a0001c0003t0001g0015 a0001c0003t0001g0054 a0001c0003t0001g0060 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0004t0001g0007 a0001c0004t0001g0008 a0001c0004t0001g0021 a0001c0004t0001g0036 a0001c0004t0001g0053 a0001c0004t0001g0057 a0001c0004t0001g0062 a0001c0005t0001g0024 a0001c0005t0001g0037 a0001c0006t0001g0025 a0004c0007t0001g0007	312	430	0.7256	-3	c.54_ others(8): Show c.54_56delGCT	p.Leu others(5): Show p.Leu19del	CTSA	ENSG00000064601.21	transcript	ENST00000646241.3	protein_coding	2/15	99/1858	54/1443	18/480		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTSA_chr20_45886335_45903820	45900098	CTTT CTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01943.hp2 HG01981.hp2 others(24): Show HG01358.hp2 HG01943.hp2 HG01981.hp2 HG02015.hp2 HG02056.hp1 HG02155.hp2 HG02451.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02922.hp1 HG03225.hp1 HG03471.hp1 HG04115.hp1 NA18747.hp2 NA18942.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18967.hp2 NA18971.hp1 NA18972.hp2 NA19003.hp1 NA19056.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0004c0007	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0004c0007t0001	a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0003t0001g0005 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0003t0001g0005 a0001c0004t0001g0007 a0001c0004t0001g0021 a0001c0004t0001g0053 a0001c0004t0001g0057 a0004c0007t0001g0007	27	430	0.0628	-3	c.16 others(14): Show c.1649_*1651delTTT		CTSA	ENSG00000064601.21	transcript	ENST00000646241.3	protein_coding					1279		chr20	TogoVar
CTSB_chr8_11837524_11873087	11842936	CTTT CTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(165): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19080.hp1 NA19082.hp1 NA19086.hp2 NA19087.hp1 NA19091.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0008 a0013	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0006 a0006c0013 a0007c0014 a0008c0019 a0013c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(25): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 a0001c0001t0019 a0001c0001t0027 a0001c0001t0038 a0001c0001t0042 a0001c0001t0073 a0001c0001t0074 a0001c0001t0077 a0001c0001t0079 a0001c0001t0082 a0001c0001t0084 a0001c0001t0086 a0001c0003t0003 a0001c0004t0078 a0002c0002t0002 a0002c0002t0006 a0002c0002t0075 a0002c0002t0087 a0002c0006t0002 a0002c0006t0003 a0002c0006t0096 a0006c0013t0002 a0007c0014t0002 a0008c0019t0003 a0013c0015t0002	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 others(137): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0156 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0219 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0278 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0315 a0001c0001t0002g0324 a0001c0001t0002g0342 a0001c0001t0002g0346 a0001c0001t0003g0003 a0001c0001t0003g0024 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0198 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0224 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0251 a0001c0001t0003g0258 a0001c0001t0003g0277 a0001c0001t0003g0282 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0297 a0001c0001t0003g0301 a0001c0001t0003g0304 a0001c0001t0003g0309 a0001c0001t0003g0312 a0001c0001t0003g0314 a0001c0001t0003g0316 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0321 a0001c0001t0003g0325 a0001c0001t0003g0345 a0001c0001t0003g0361 a0001c0001t0007g0193 a0001c0001t0007g0199 a0001c0001t0007g0202 a0001c0001t0007g0220 a0001c0001t0007g0248 a0001c0001t0007g0249 a0001c0001t0007g0263 a0001c0001t0007g0362 a0001c0001t0015g0021 a0001c0001t0015g0227 a0001c0001t0015g0232 a0001c0001t0015g0235 a0001c0001t0019g0215 a0001c0001t0019g0296 a0001c0001t0019g0306 a0001c0001t0019g0355 a0001c0001t0027g0122 a0001c0001t0027g0295 a0001c0001t0027g0347 a0001c0001t0038g0293 a0001c0001t0038g0294 a0001c0001t0042g0155 a0001c0001t0042g0344 a0001c0001t0073g0320 a0001c0001t0074g0223 a0001c0001t0077g0261 a0001c0001t0079g0061 a0001c0001t0082g0317 a0001c0001t0084g0236 a0001c0001t0086g0222 a0001c0003t0003g0056 a0001c0003t0003g0105 a0001c0004t0078g0302 a0002c0002t0002g0033 a0002c0002t0002g0037 a0002c0002t0002g0072 a0002c0002t0002g0250 a0002c0002t0006g0016 a0002c0002t0006g0170 a0002c0002t0006g0171 a0002c0002t0006g0172 a0002c0002t0006g0173 a0002c0002t0006g0174 a0002c0002t0006g0192 a0002c0002t0075g0092 a0002c0002t0087g0059 a0002c0006t0002g0011 a0002c0006t0002g0218 a0002c0006t0003g0299 a0002c0006t0096g0373 a0006c0013t0002g0285 a0006c0013t0002g0341 a0006c0013t0002g0349 a0007c0014t0002g0190 a0007c0014t0002g0191 a0008c0019t0003g0298 a0013c0015t0002g0310	168	438	0.3836	-3	c.21 others(14): Show c.2186_*2188delAAA		CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding	10/10				2186		chr8	TogoVar
CTSC_chr11_88288592_88342736	88302625	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01891.hp2 HG01978.hp1 others(4): Show HG00733.hp2 HG01891.hp2 HG01978.hp1 HG03225.hp2 HG03540.hp1 NA19043.hp2 NA19072.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0046 a0001c0001t0002g0055 a0002c0002t0001g0096 others(3): Show a0001c0001t0001g0046 a0001c0001t0002g0055 a0002c0002t0001g0096 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0293	7	434	0.0161	-3	c.642 others(20): Show c.642-1983_642-1981delTTT		CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	4/6						chr11	TogoVar
CTSC_chr11_88288592_88342736	88310727	TATC TATC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp2 HG03453.hp2 HG02647.hp2 HG02896.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125	3	434	0.0069	-3	c.486 others(20): Show c.486-1412_486-1410delGAT		CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	3/6						chr11	TogoVar
CTSC_chr11_88288592_88342736	88315606	AAAT AAAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02886.hp2 others(2): Show HG02055.hp2 HG02109.hp2 HG02886.hp2 HG03453.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0022 a0002c0002t0001g0311 a0002c0002t0001g0312	5	434	0.0115	-3	c.319 others(20): Show c.319-3055_319-3053delATT		CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	2/6						chr11	TogoVar
CTSC_chr11_88288592_88342736	88325088	AAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(109): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18950.hp2 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp2 NA18997.hp2 NA19000.hp2 NA19003.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19058.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0007 a0001c0001 a0004c0005 a0005c0007	a0001c0001t0001 a0004c0005t0001 a0005c0007t0001 a0001c0001t0001 a0004c0005t0001 a0005c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(78): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0176 a0001c0001t0001g0211 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0004c0005t0001g0248 a0005c0007t0001g0313	112	434	0.2581	-3	c.318 others(20): Show c.318+9846_318+9848delCTT		CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	2/6						chr11	TogoVar
CTSC_chr11_88288592_88342736	88329455	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG01243.hp1 others(10): Show HG00423.hp1 HG00621.hp2 HG01243.hp1 HG02004.hp1 HG02129.hp1 HG02145.hp1 HG02451.hp1 HG02738.hp1 HG02896.hp2 HG03225.hp1 HG03453.hp2 NA18906.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 others(10): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0216 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0280 a0001c0001t0001g0283 a0002c0002t0001g0101	13	434	0.0300	-3	c.318 others(20): Show c.318+5479_318+5481delTTT		CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	2/6						chr11	TogoVar
CTSC_chr11_88288592_88342736	88336238	TAAA TAAA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02083.hp2 HG03239.hp1 others(3): Show HG02015.hp1 HG02083.hp2 HG03239.hp1 HG03491.hp1 NA18941.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0119 a0001c0001t0001g0173 a0001c0001t0001g0174 others(3): Show a0001c0001t0001g0119 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0006g0172	6	434	0.0138	-3	c.173 others(20): Show c.173-1159_173-1157delTTT		CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	1/6						chr11	TogoVar

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