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
CAPN7_chr3_15201246_15257916	15249595	TAAGAGTT others(8): Show TAAGAGTTTTTTTCTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG02486.hp1 others(3): Show HG01109.hp1 HG01168.hp2 HG02486.hp1 HG02630.hp2 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0197 others(3): Show a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0237 a0001c0007t0001g0185	6	374	0.0160	-15	c.220 others(34): Show c.2205-1333_2205-1319delGAGTTTTTTTCTAAA		CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	19/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPN7_chr3_15201246_15257916	15257280	CTAAAGCA others(8): Show CTAAAGCAGCTGGAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01192.hp1 others(5): Show HG00738.hp2 HG01167.hp1 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG02698.hp2 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0007 a0001c0003t0001 a0001c0003t0007	a0001c0003t0001g0056 a0001c0003t0001g0062 a0001c0003t0007g0021 others(4): Show a0001c0003t0001g0056 a0001c0003t0001g0062 a0001c0003t0007g0021 a0001c0003t0007g0055 a0001c0003t0007g0057 a0001c0003t0007g0060 a0001c0003t0007g0061	8	374	0.0214	-15	c.60 others(26): Show c.6021_*6035delTAAAGCAGCTGGAAG		CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding					4365		chr3	TogoVar
CAPN9_chr1_230742388_230806989	230746229	CTCTCTCT others(8): Show CTCTCTCTCTTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0194	1	392	0.0026	-15	c.-12 others(26): Show c.-1267_-1253delTCTCTCTCTTTTCTT		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding					1158		chr1	TogoVar
CAPN9_chr1_230742388_230806989	230768041	TAAATAAA others(8): Show TAAATAAATAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG02027.hp2 others(11): Show HG00438.hp1 HG00609.hp2 HG02027.hp2 HG02074.hp2 HG02523.hp1 HG02738.hp2 HG03834.hp1 NA18942.hp2 NA18962.hp2 NA18966.hp1 NA18991.hp1 NA19009.hp1 NA19010.hp2 NA19064.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0008 a0005c0035 a0001c0003 a0005c0008 a0005c0035	a0001c0003t0001 a0005c0008t0001 a0005c0035t0001 a0001c0003t0001 a0005c0008t0001 a0005c0035t0001	a0001c0003t0001g0359 a0005c0008t0001g0104 a0005c0008t0001g0105 others(11): Show a0001c0003t0001g0359 a0005c0008t0001g0104 a0005c0008t0001g0105 a0005c0008t0001g0163 a0005c0008t0001g0224 a0005c0008t0001g0225 a0005c0008t0001g0226 a0005c0008t0001g0227 a0005c0008t0001g0228 a0005c0008t0001g0229 a0005c0008t0001g0230 a0005c0008t0001g0231 a0005c0008t0001g0233 a0005c0035t0001g0232	14	386	0.0363	-15	c.705 others(30): Show c.705+340_705+354delTAAATAAAAAATAAA		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230789473	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0307 a0012c0020t0001g0307	1	177	0.0056	-15	c.160 others(32): Show c.1600-646_1600-632delAAAAAAAAAAAAAAA		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPRIN1_chr11_34046731_34107610	34079905	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03669.hp1 HG00099.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0163 a0001c0001t0001g0168	2	170	0.0118	-15	c.826 others(30): Show c.826+161_826+175delTTTTTTTTTTTTTTT		CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPRIN1_chr11_34046731_34107610	34103735	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	43	0.0233	-15	c.43 others(26): Show c.4369_*4383delAAAAAAAAAAAAAAA		CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding					1126		chr11	TogoVar
CAPRIN2_chr12_30704553_30759951	30712733	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG02647.hp1 others(6): Show HG00738.hp1 HG01884.hp1 HG02647.hp1 HG02723.hp2 HG02922.hp2 HG02970.hp2 HG03486.hp2 NA19030.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0051 a0002c0002t0001g0131 others(5): Show a0002c0002t0001g0038 a0002c0002t0001g0051 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181	9	26	0.3462	-15	c.250 others(34): Show c.2505+1037_2505+1051delAAAAAAAAAAAAAAA		CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	17/18						chr12	TogoVar
CAPS2_chr12_75270979_75335324	75311709	AAACAAAA others(8): Show AAACAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp1 HG02523.hp2 others(8): Show HG01106.hp1 HG01175.hp1 HG02523.hp2 HG04199.hp1 NA18942.hp1 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18993.hp1 NA19004.hp1 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0002c0002t0028	a0001c0001t0001g0234 a0001c0001t0002g0015 a0001c0001t0002g0231 others(8): Show a0001c0001t0001g0234 a0001c0001t0002g0015 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0247 a0001c0001t0005g0241 a0001c0001t0005g0248 a0002c0002t0001g0032 a0002c0002t0001g0175 a0002c0002t0001g0192 a0002c0002t0028g0218	11	367	0.0300	-15	c.545 others(32): Show c.545+1124_545+1138delGTTTTTTTTTTTGTT		CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	7/16						chr12	TogoVar
CAPS_chr19_5909254_5921211	5919901	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	105	0.0095	-15	c.45 others(26): Show c.4580_*4594delAAAAAAAAAAAAAAA		CAPS	ENSG00000105519.18	transcript	ENST00000588776.8	protein_coding					3691		chr19	TogoVar
CAPZA1_chr1_112614832_112676616	112623350	TAGTTTTG others(8): Show TAGTTTTGCTGAGAGG	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	366	0.0027	-15	c.39+ others(30): Show c.39+3468_39+3482delAGTTTTGCTGAGAGG		CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9						chr1	TogoVar
CAPZA1_chr1_112614832_112676616	112642819	GGAATATT others(8): Show GGAATATTAGTATCTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG02080.hp2 others(29): Show HG00438.hp1 HG00673.hp2 HG02080.hp2 HG02698.hp1 HG03225.hp1 HG03239.hp1 NA18522.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp2 NA18950.hp2 NA18952.hp1 NA18963.hp2 NA18964.hp2 NA18972.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA19009.hp2 NA19011.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19078.hp2 NA19080.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0341 a0001c0001t0003g0004 a0001c0001t0003g0261 others(27): Show a0001c0001t0002g0341 a0001c0001t0003g0004 a0001c0001t0003g0261 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0007g0292 a0001c0001t0007g0293	32	366	0.0874	-15	c.40- others(30): Show c.40-4386_40-4372delATTAGTATCTTGAAT		CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116890526	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19030.hp1 NA18971.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0251 a0001c0001t0007g0265 a0001c0001t0001g0251 a0001c0001t0007g0265	2	232	0.0086	-15	c.103 others(32): Show c.103+2337_103+2351delTATATATATATATAT		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9						chr7	TogoVar
CAPZB_chr1_19333775_19490539	19333899	CAAACAAA others(8): Show CAAACAAAACAAAACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 NA18906.hp2 HG02055.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0118 a0001c0001t0001g0120	2	188	0.0106	-15	c.56 others(26): Show c.5616_*5630delTGTTTTGTTTTGTTT		CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding					4875		chr1	TogoVar
CAPZB_chr1_19333775_19490539	19346452	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02451.hp2 HG02572.hp1 others(7): Show HG01099.hp2 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03453.hp2 HG03516.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0081 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0244 a0001c0001t0001g0300 a0001c0001t0009g0033 a0001c0001t0009g0060	10	200	0.0500	-15	c.589 others(32): Show c.589-1215_589-1201delTTTTTTTTTTTTTTT		CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	6/8						chr1	TogoVar
CARD11_chr7_2901142_3048867	2911782	ATGCCCCG others(8): Show ATGCCCCGTTTTCCCC	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0002 a0002c0022t0002	a0002c0022t0002g0209 a0002c0022t0002g0209	1	320	0.0031	-15	c.314 others(32): Show c.3144+375_3144+389delGGGGAAAACGGGGCA		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	23/24						chr7	TogoVar
CARD11_chr7_2901142_3048867	3040330	TTTTTTGT others(8): Show TTTTTTGTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG01496.hp1 others(4): Show HG01175.hp1 HG01175.hp2 HG01496.hp1 HG02055.hp1 HG02818.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0011 a0001c0067	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(4): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0010t0002 a0001c0011t0001 a0001c0067t0001	a0001c0002t0001g0006 a0001c0003t0001g0004 a0001c0004t0001g0067 others(4): Show a0001c0002t0001g0006 a0001c0003t0001g0004 a0001c0004t0001g0067 a0001c0005t0001g0009 a0001c0010t0002g0310 a0001c0011t0001g0318 a0001c0067t0001g0311	7	320	0.0219	-15	c.-12 others(34): Show c.-126+3322_-126+3336delCAAAAAAAACAAAAA		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24						chr7	TogoVar
CARD14_chr17_80165030_80214331	80170142	ATGGGGCC others(8): Show ATGGGGCCCGAGAGTG	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	374	0.0027	-15	c.-69 others(31): Show c.-690+87_-690+101delTGGGGCCCGAGAGTG		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23						chr17	TogoVar
CARD14_chr17_80165030_80214331	80170795	GTCCCCTC others(8): Show GTCCCCTCCCCTCCTC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01256.hp1 others(1): Show HG00280.hp2 HG01081.hp1 HG01256.hp1 NA18940.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0002 a0002c0002t0001 a0003c0006t0002 a0001c0001t0002 a0002c0002t0001 a0003c0006t0002	a0001c0001t0002g0149 a0002c0002t0001g0038 a0002c0002t0001g0147 others(1): Show a0001c0001t0002g0149 a0002c0002t0001g0038 a0002c0002t0001g0147 a0003c0006t0002g0148	4	374	0.0107	-15	c.-69 others(32): Show c.-690+762_-690+776delCCCTCCTCTCCCCTC		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80175952	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp1 HG01517.hp1 others(16): Show HG01069.hp1 HG01074.hp1 HG01517.hp1 HG02040.hp2 HG02083.hp1 HG02165.hp2 HG02273.hp2 HG03225.hp2 HG03516.hp2 HG03654.hp1 NA18944.hp1 NA18948.hp2 NA18968.hp2 NA18980.hp1 NA18986.hp1 NA19012.hp1 NA19060.hp2 NA19068.hp2 NA19077.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0014	a0001c0001 a0002c0002 a0002c0005 others(4): Show a0001c0001 a0002c0002 a0002c0005 a0003c0006 a0003c0010 a0004c0031 a0014c0028	a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0002c0005t0001 a0003c0006t0002 a0003c0010t0002 a0003c0010t0005 a0004c0031t0008 a0014c0028t0005	a0001c0001t0002g0001 a0001c0001t0002g0152 a0001c0001t0002g0157 others(14): Show a0001c0001t0002g0001 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0195 a0001c0001t0005g0081 a0002c0002t0001g0207 a0002c0005t0001g0178 a0003c0006t0002g0166 a0003c0010t0002g0156 a0003c0010t0005g0052 a0003c0010t0005g0053 a0004c0031t0008g0046 a0014c0028t0005g0056	19	48	0.3958	-15	c.-36 others(34): Show c.-366-2530_-366-2516delTTTTTTTTTTTTTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD6_chr5_40836367_40860354	40850469	CTTTGGGA others(8): Show CTTTGGGAGGCTGAGG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18952.hp2 NA19000.hp1 others(5): Show HG02040.hp1 NA18952.hp2 NA19000.hp1 NA19006.hp1 NA19056.hp2 NA19064.hp1 NA19078.hp1 NA19080.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0021 a0001c0001 a0021c0021	a0001c0001t0002 a0021c0021t0002 a0001c0001t0002 a0021c0021t0002	a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0141 others(1): Show a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0141 a0021c0021t0002g0097	8	438	0.0183	-15	c.842 others(32): Show c.842-1704_842-1690delTTTGGGAGGCTGAGG		CARD6	ENSG00000132357.14	transcript	ENST00000254691.10	protein_coding	2/2						chr5	TogoVar
CARD8_chr19_48203086_48260912	48214769	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0026 a0006c0014t0026	a0006c0014t0026g0039 a0006c0014t0026g0039	1	3	0.3333	-15	c.134 others(32): Show c.1348+556_1348+570delAAAAAAAAAAAAAAA		CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	13/13						chr19	TogoVar
CARF_chr2_202907275_202993263	202989007	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0298 a0001c0001t0022g0299 a0001c0001t0022g0298 a0001c0001t0022g0299	2	162	0.0123	-15	c.53 others(26): Show c.5384_*5398delTTTTTTTTTTTTTTT		CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding					745		chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8861158	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(144): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02273.hp1 HG02300.hp1 HG02572.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19075.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0001c0013 a0004c0008 a0005c0009 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0029 a0001c0002t0034 a0001c0005t0002 a0001c0005t0018 a0001c0012t0002 a0001c0013t0001 a0004c0008t0002 a0005c0009t0002 a0006c0010t0002	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0016 others(129): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0149 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0297 a0001c0001t0001g0307 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0337 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0385 a0001c0001t0001g0396 a0001c0001t0001g0397 a0001c0001t0001g0407 a0001c0001t0001g0409 a0001c0001t0001g0412 a0001c0001t0001g0413 a0001c0001t0001g0419 a0001c0001t0001g0426 a0001c0001t0001g0435 a0001c0001t0002g0159 a0001c0001t0003g0260 a0001c0001t0021g0295 a0001c0001t0024g0281 a0001c0001t0025g0280 a0001c0001t0027g0192 a0001c0002t0001g0041 a0001c0002t0001g0199 a0001c0002t0001g0201 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0011 a0001c0002t0002g0026 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0054 a0001c0002t0002g0060 a0001c0002t0002g0065 a0001c0002t0002g0090 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0118 a0001c0002t0002g0120 a0001c0002t0002g0131 a0001c0002t0002g0142 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0150 a0001c0002t0002g0153 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0171 a0001c0002t0002g0195 a0001c0002t0002g0234 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0299 a0001c0002t0002g0313 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0395 a0001c0002t0002g0417 a0001c0002t0002g0422 a0001c0002t0002g0433 a0001c0002t0005g0068 a0001c0002t0029g0235 a0001c0002t0034g0154 a0001c0005t0002g0165 a0001c0005t0018g0166 a0001c0005t0018g0169 a0001c0012t0002g0326 a0001c0013t0001g0269 a0004c0008t0002g0160 a0005c0009t0002g0306 a0006c0010t0002g0331	147	155	0.9484	-15	c.-7- others(30): Show c.-7-1838_-7-1824delAAAAAAAAAAAAAAA		CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3						chr16	TogoVar
CARM1_chr19_10866553_10928075	10871589	AGCGGCGG others(8): Show AGCGGCGGCGGCGGCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0156 a0001c0001t0001g0157	2	245	0.0082	-15	c.-78 others(22): Show c.-78_-64delGGCGGCGGCGGCGGC		CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16				64	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARM1_chr19_10866553_10928075	10871625	GGCGGCGG others(8): Show GGCGGCGGCGGCGGCA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01261.hp1 HG02015.hp1 HG02451.hp1 others(6): Show HG01261.hp1 HG02015.hp1 HG02451.hp1 HG02622.hp2 HG02976.hp2 HG03471.hp2 HG03942.hp1 NA18906.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0048 a0001c0001t0002g0058 a0001c0001t0002g0076 others(6): Show a0001c0001t0002g0048 a0001c0001t0002g0058 a0001c0001t0002g0076 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0003g0053	9	352	0.0256	-15	c.-66 others(22): Show c.-66_-52delGGCAGCGGCGGCGGC		CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16				52	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARM1_chr19_10866553_10928075	10906861	CTTTATTT others(8): Show CTTTATTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02809.hp1 others(3): Show HG02451.hp1 HG02622.hp2 HG02809.hp1 HG02976.hp2 HG03130.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0017 a0001c0001t0001 a0001c0001t0002 a0001c0006t0017	a0001c0001t0001g0170 a0001c0001t0002g0097 a0001c0001t0002g0099 others(3): Show a0001c0001t0001g0170 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0006t0017g0342	6	101	0.0594	-15	c.347 others(32): Show c.347-1129_347-1115delATTTTATTTTATTTT		CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25390308	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0054 a0002c0005t0003g0054	1	184	0.0054	-15	c.139 others(34): Show c.139-29804_139-29790delATATATATATATTTT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNS1_chr11_67410678_67430604	67427073	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp2 HG04228.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0078 a0001c0001t0001g0001 a0001c0001t0001g0078	2	42	0.0476	-15	c.24 others(26): Show c.2473_*2487delTTTTTTTTTTTTTTT		CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding					1470		chr11	TogoVar
CASK_chrX_41509934_41928554	41517770	TAGCAGCA others(8): Show TAGCAGCAGCAGCAGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02055.hp1 others(1): Show HG01167.hp1 HG01169.hp1 HG02055.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0007 a0001c0001t0012	a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0006 others(1): Show a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0012g0148	4	109	0.0367	-15	c.26 others(26): Show c.2635_*2649delGCTGCTGCTGCTGCT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	27/27				2635		chrX	TogoVar
CASK_chrX_41509934_41928554	41569305	TAGTAATC others(8): Show TAGTAATCTAATACAG	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	161	0.0062	-15	c.158 others(32): Show c.1582+348_1582+362delCTGTATTAGATTACT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	16/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41637378	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	48	0.0208	-15	c.832 others(30): Show c.832-732_832-718delAAAAAAAAAAAAAAA		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	8/26						chrX	TogoVar
CASP6_chr4_109683628_109708445	109705992	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	410	0.0024	-15	c.-26 others(26): Show c.-2612_-2598delATATATTTTTTTTTT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2548		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705994	AAAAAAAA others(8): Show AAAAAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 NA18747.hp2 NA19012.hp1 HG02004.hp2 NA18747.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0084 a0001c0001t0003g0003 a0001c0001t0003g0084	3	393	0.0076	-15	c.-26 others(26): Show c.-2614_-2600delATATATATTTTTTTT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2550		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705996	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 NA18992.hp1 NA18994.hp2 others(1): Show HG01884.hp1 NA18992.hp1 NA18994.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0039 a0001c0001t0001g0078 a0001c0001t0003g0190 a0001c0001t0001g0039 a0001c0001t0001g0078 a0001c0001t0003g0190	4	397	0.0101	-15	c.-26 others(26): Show c.-2616_-2602delATATATATATTTTTT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2552		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706127	CATTTTAT others(8): Show CATTTTATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0012 a0001c0002t0006g0012	1	414	0.0024	-15	c.-27 others(26): Show c.-2747_-2733delATATATATATAAAAT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2683		chr4	TogoVar
CASP8_chr2_201255536_201292709	201268908	TTTGTGTG others(8): Show TTTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0214 a0001c0001t0005g0214	1	384	0.0026	-15	c.305 others(32): Show c.305+2119_305+2133delTGTGTGTGTGTGTGT		CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAST_chr5_96657376_96779683	96701441	TTTTTAAA others(8): Show TTTTTAAAAAGGAATG	T T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0170 a0002c0003t0003g0170	1	356	0.0028	-15	c.210 others(32): Show c.210+5535_210+5549delTTTTAAAAAGGAATG		CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	3/31						chr5	TogoVar
CAST_chr5_96657376_96779683	96752550	ATAACCTC others(8): Show ATAACCTCAGGGATTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(129): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19070.hp2 NA19076.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0028 a0002c0003 a0002c0004 a0002c0006 a0002c0022 a0002c0024 a0005c0009 a0009c0026 a0010c0023 a0011c0027 a0012c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0002t0017 a0001c0005t0007 a0001c0028t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0015 a0002c0004t0002 a0002c0004t0003 a0002c0004t0013 a0002c0006t0003 a0002c0022t0013 a0002c0024t0001 a0005c0009t0008 a0009c0026t0001 a0010c0023t0003 a0011c0027t0001 a0012c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0001g0079 a0001c0001t0001g0129 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0282 a0001c0001t0001g0302 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0002g0002 a0001c0001t0002g0092 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0004g0132 a0001c0001t0004g0261 a0001c0001t0004g0273 a0001c0001t0007g0250 a0001c0001t0019g0327 a0001c0001t0022g0178 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0179 a0001c0002t0001g0182 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0208 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0232 a0001c0002t0001g0238 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0283 a0001c0002t0001g0297 a0001c0002t0001g0299 a0001c0002t0003g0221 a0001c0002t0017g0003 a0001c0002t0017g0192 a0001c0005t0007g0013 a0001c0005t0007g0239 a0001c0028t0001g0227 a0002c0003t0002g0284 a0002c0003t0002g0286 a0002c0003t0002g0291 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0097 a0002c0003t0003g0271 a0002c0003t0003g0274 a0002c0003t0003g0277 a0002c0003t0003g0301 a0002c0003t0003g0303 a0002c0003t0003g0304 a0002c0003t0003g0305 a0002c0003t0003g0307 a0002c0003t0003g0315 a0002c0003t0003g0316 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0334 a0002c0003t0003g0335 a0002c0003t0015g0004 a0002c0004t0002g0144 a0002c0004t0003g0008 a0002c0004t0003g0124 a0002c0004t0003g0255 a0002c0004t0003g0292 a0002c0004t0003g0294 a0002c0004t0013g0253 a0002c0004t0013g0254 a0002c0006t0003g0205 a0002c0006t0003g0229 a0002c0006t0003g0234 a0002c0022t0013g0184 a0002c0024t0001g0222 a0005c0009t0008g0139 a0005c0009t0008g0141 a0009c0026t0001g0019 a0010c0023t0003g0041 a0011c0027t0001g0215 a0012c0025t0001g0021	132	202	0.6535	-15	c.152 others(34): Show c.1525-1508_1525-1494delAACCTCAGGGATTTT		CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	20/31					INFO_REALIGN_3_PRIME	chr5	TogoVar
CASZ1_chr1_10631604_10801646	10639098	CTCGTCGT others(8): Show CTCGTCGTCGTCCTCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp2 HG02280.hp2	a0010 a0010	a0010c0032 a0010c0032	a0010c0032t0034 a0010c0032t0034	a0010c0032t0034g0145 a0010c0032t0034g0145	1	234	0.0043	-15	c.510 others(24): Show c.5109_5123delCGAGGACGACGACGA	p.Asp others(15): Show p.Asp1703_Asp1707del	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	21/21	5439/7934	5109/5280	1703/1759			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10792326	CGCCCCCC others(8): Show CGCCCCCCCCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18612.hp1 HG03540.hp2 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0022 a0001c0002t0001 a0001c0004t0022	a0001c0002t0001g0125 a0001c0004t0022g0119 a0001c0002t0001g0125 a0001c0004t0022g0119	2	230	0.0087	-15	c.-23 others(34): Show c.-234+4223_-234+4237delCGGGGGGGGGGGGGC		CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	1/20						chr1	TogoVar
CATIP_chr2_218351857_218373094	218366937	CACCACAC others(8): Show CACCACACTGGGGGTT	C C	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0231 a0007c0009t0001g0231	1	364	0.0027	-15	c.756 others(28): Show c.756-85_756-71delCCACACTGGGGGTTA		CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER4_chr1_26185602_26207964	26200565	TGGGTAGG others(8): Show TGGGTAGGGTTTATCA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0068 a0002c0014t0001g0068	1	396	0.0025	-15	c.988 others(30): Show c.988-260_988-246delAGGGTTTATCAGGGT		CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5751531	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02622.hp2 HG02647.hp1 HG01934.hp1 HG02622.hp2 HG02647.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0005c0006t0001 a0001c0001t0001 a0001c0001t0002 a0005c0006t0001	a0001c0001t0001g0130 a0001c0001t0002g0205 a0005c0006t0001g0229 a0001c0001t0001g0130 a0001c0001t0002g0205 a0005c0006t0001g0229	3	15	0.2000	-15	c.988 others(28): Show c.988-93_988-79delAAAAAAAAAAAAAAA		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERZ_chr11_64295358_64309770	64302386	TTCTCCTG others(8): Show TTCTCCTGCCTCAGCC	T T	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	390	0.0026	-15	c.353 others(32): Show c.353-1092_353-1078delCCTGCCTCAGCCTCT		CATSPERZ	ENSG00000219435.6	transcript	ENST00000328404.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
CAV1_chr7_116520036_116566179	116533348	TAAATAAA others(8): Show TAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA21309.hp2 HG02451.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0206 a0001c0001t0018g0047 a0001c0001t0001g0206 a0001c0001t0018g0047	2	79	0.0253	-15	c.195 others(32): Show c.195+6708_195+6722delTAAAATAAAATAAAA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534380	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02615.hp1 HG02622.hp2 others(6): Show HG01433.hp1 HG02615.hp1 HG02622.hp2 HG02886.hp1 HG03041.hp2 HG03471.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 a0001c0001t0001 a0001c0001t0014 a0001c0002t0001	a0001c0001t0001g0081 a0001c0001t0014g0202 a0001c0002t0001g0035 others(5): Show a0001c0001t0001g0081 a0001c0001t0014g0202 a0001c0002t0001g0035 a0001c0002t0001g0079 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205	9	338	0.0266	-15	c.195 others(32): Show c.195+7692_195+7706delATATATATATATATA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2						chr7	TogoVar
CAV1_chr7_116520036_116566179	116555509	AAAGAAAG others(8): Show AAAGAAAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	254	0.0039	-15	c.196 others(32): Show c.196-3435_196-3421delAGAAAGAAAGAGAGA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555519	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00597.hp1 others(10): Show HG00280.hp1 HG00423.hp1 HG00597.hp1 HG00621.hp1 HG01123.hp2 HG01934.hp2 HG01943.hp2 HG02083.hp1 NA18948.hp2 NA18967.hp1 NA19056.hp2 NA19064.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0135 a0001c0001t0001g0136 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0002g0001 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0003g0023 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0132 a0001c0001t0003g0150 a0001c0001t0003g0209	13	304	0.0428	-15	c.196 others(32): Show c.196-3426_196-3412delGAGAGAGAGAGAGAG		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2						chr7	TogoVar
CAV1_chr7_116520036_116566179	116555521	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 NA18999.hp2 HG02895.hp2 HG02896.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0011 a0001c0001t0001g0016	3	319	0.0094	-15	c.196 others(32): Show c.196-3424_196-3410delGAGAGAGAGAGAGAG		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2						chr7	TogoVar

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