Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CLCN4_chrX_10151975_10242660	10216897	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	43	0.0233	40	c.197 others(59): Show c.1975+2840_1975+2841insTATATATATATATATATATATATATA TATATATATATATA	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10216918	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	42	0.0238	40	c.197 others(59): Show c.1975+2840_1975+2841insTATATATATATATATATATATATATA TATATACACACACA	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10216918	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	42	0.0238	40	c.197 others(59): Show c.1975+2840_1975+2841insTATATATATATATATATATATATATA TATATATATATACA	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	50	0.0200	40	c.-80 others(49): Show c.-805_-804insATATATATATATATATATATATATATATATTTTTTT TTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	50	0.0200	40	c.-80 others(49): Show c.-805_-804insATATATATATATATATATATATATATATATATTTTT TTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(33): Show AAAAAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG02145.hp2 HG01943.hp1 HG02145.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0005c0009t0004 a0001c0001t0001 a0005c0009t0004	a0001c0001t0001g0001 a0005c0009t0004g0018 a0001c0001t0001g0001 a0005c0009t0004g0018	2	51	0.0392	40	c.-80 others(49): Show c.-805_-804insATATATATATATATATATATATATATATATATATTT TTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	50	0.0200	40	c.-80 others(49): Show c.-805_-804insATATATATATATATATATATATATATATATATATAT TTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC9A_chr12_10025682_10071031	10029259	G G	GTGTATAT others(33): Show GTGTATATATATATATATATATATATATATACATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	258	0.0039	40	c.-20 others(51): Show c.-2031_-2030insTGTATATATATATATATATATATATATATACATA TATATA	CLEC9A	ENSG00000197992.7	transcript	ENST00000355819.6	protein_coding		1422		chr12	TogoVar
CLIC5_chr6_45893456_46020860	45958437	T T	TATATATA others(33): Show TATATATATATATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0030 a0001c0001t0007g0030	1	336	0.0030	40	c.64- others(55): Show c.64-3194_64-3193insGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT ATATATATAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	45958439	T T	TATATATA others(33): Show TATATATATACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	328	0.0030	40	c.64- others(55): Show c.64-3196_64-3195insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATATATAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC6_chr21_34663994_34723223	34716862	T T	TCTCTCTC others(33): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATCACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0010 a0010	a0010c0031 a0010c0031	a0010c0031t0057 a0010c0031t0057	a0010c0031t0057g0037 a0010c0031t0057g0037	1	163	0.0061	40	c.38 others(49): Show c.381_*382insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATCACAC ACAC	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	6/6	382	INFO_REALIGN_3_PRIME	chr21	TogoVar
CLIP2_chr7_74284407_74410935	74361176	T T	TTTCCTTC others(33): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02895.hp1 HG02897.hp2 others(2): Show HG00621.hp2 HG02895.hp1 HG02897.hp2 HG04228.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0118 others(2): Show a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0118 a0001c0002t0001g0212 a0001c0002t0002g0273	5	33	0.1515	40	c.131 others(57): Show c.1319+930_1319+931insTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCC	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLIP2_chr7_74284407_74410935	74361205	T T	TTCCTTCC others(33): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0068 a0001c0002t0003g0068	1	272	0.0037	40	c.131 others(57): Show c.1319+930_1319+931insTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCCTCC	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLMN_chr14_95176940_95324908	95245610	G G	GGATAGGT others(33): Show GGATAGGTGGATGGGTGGGTGGATGGATGGATGGATGAATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG00738.hp1 others(64): Show HG00558.hp1 HG00735.hp2 HG00738.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18971.hp1 NA18982.hp1 NA18995.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19084.hp2 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0012 a0001c0013 a0002c0004 a0003c0007 a0003c0009 a0008c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0033 a0001c0001t0037 a0001c0001t0039 a0001c0001t0056 a0001c0001t0061 a0001c0001t0068 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0002t0022 a0001c0002t0031 a0001c0002t0034 a0001c0002t0059 a0001c0003t0002 a0001c0003t0013 a0001c0003t0041 a0001c0005t0002 a0001c0005t0013 a0001c0005t0014 a0001c0008t0005 a0001c0008t0012 a0001c0012t0005 a0001c0013t0017 a0002c0004t0025 a0002c0004t0066 a0003c0007t0020 a0003c0007t0042 a0003c0009t0021 a0008c0018t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0095 others(60): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0155 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0233 a0001c0001t0003g0111 a0001c0001t0003g0165 a0001c0001t0005g0149 a0001c0001t0005g0169 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0006g0164 a0001c0001t0007g0097 a0001c0001t0009g0057 a0001c0001t0009g0195 a0001c0001t0011g0114 a0001c0001t0011g0163 a0001c0001t0015g0099 a0001c0001t0018g0003 a0001c0001t0022g0118 a0001c0001t0033g0211 a0001c0001t0037g0071 a0001c0001t0039g0138 a0001c0001t0056g0150 a0001c0001t0061g0072 a0001c0001t0068g0132 a0001c0002t0001g0011 a0001c0002t0006g0038 a0001c0002t0009g0045 a0001c0002t0009g0047 a0001c0002t0022g0050 a0001c0002t0031g0019 a0001c0002t0034g0027 a0001c0002t0059g0044 a0001c0003t0002g0093 a0001c0003t0002g0115 a0001c0003t0002g0167 a0001c0003t0002g0232 a0001c0003t0013g0087 a0001c0003t0041g0251 a0001c0005t0002g0037 a0001c0005t0013g0004 a0001c0005t0014g0046 a0001c0008t0005g0001 a0001c0008t0012g0112 a0001c0012t0005g0051 a0001c0013t0017g0026 a0002c0004t0025g0109 a0002c0004t0025g0110 a0002c0004t0066g0250 a0003c0007t0020g0002 a0003c0007t0042g0048 a0003c0009t0021g0193 a0008c0018t0001g0202	67	274	0.2445	40	c.83- others(57): Show c.83-15478_83-15477insTATTCATCCATCCATCCATCCACCCACC CATCCACCTATC	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
CLMN_chr14_95176940_95324908	95293374	T T	TTCCCTCC others(33): Show TTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01169.hp1 others(8): Show HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01884.hp2 HG02258.hp1 HG02723.hp1 HG02723.hp2 HG03041.hp2 HG03195.hp1 HG03471.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0001c0012 others(2): Show a0001c0001 a0001c0008 a0001c0012 a0001c0021 a0003c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0008t0005 a0001c0012t0005 a0001c0021t0003 a0003c0009t0021	a0001c0001t0001g0161 a0001c0001t0005g0191 a0001c0001t0009g0195 others(6): Show a0001c0001t0001g0161 a0001c0001t0005g0191 a0001c0001t0009g0195 a0001c0001t0012g0063 a0001c0001t0015g0160 a0001c0008t0005g0001 a0001c0012t0005g0051 a0001c0021t0003g0070 a0003c0009t0021g0193	11	265	0.0415	40	c.82+ others(57): Show c.82+26336_82+26337insGGGAAGGAAGGAAGGAGGGAGGGAGGGA AGGAGGGAGGGA	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
CLMP_chr11_123064872_123200248	123150416	T T	TAAGAAAG others(33): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	166	0.0060	40	c.28+ others(57): Show c.28+44457_28+44496dupTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02083.hp2 HG00544.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0100 a0001c0001t0003g0113 a0001c0001t0001g0100 a0001c0001t0003g0113	2	126	0.0159	40	c.28+ others(57): Show c.28+44432_28+44433insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02080.hp2 HG00609.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0059 a0001c0001t0004g0033 a0001c0001t0001g0059 a0001c0001t0004g0033	2	126	0.0159	40	c.28+ others(57): Show c.28+44432_28+44433insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN6_chr15_68201992_68234728	68229767	A A	AGCGGAGC others(33): Show AGCGGAGCGGAGGGAGGCGGGGCGGAGCGGAGGGAGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01433.hp2 HG01496.hp2 others(16): Show HG01261.hp2 HG01433.hp2 HG01496.hp2 HG02071.hp2 HG02165.hp2 HG03491.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp2 NA18612.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA19060.hp1 NA19090.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0016 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0171 a0001c0001t0002g0141 a0001c0001t0013g0128 a0005c0006t0001g0137	19	163	0.1166	40	c.-18 others(49): Show c.-184_-183insCCCGCCTCCCTCCGCTCCGCCCCGCCTCCCTCCGCT CCGC	CLN6	ENSG00000128973.13	transcript	ENST00000249806.11	protein_coding		40		chr15	TogoVar
CLNK_chr4_10481395_10689768	10535213	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAAACAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0038 a0001c0001t0032g0038	1	28	0.0357	40	c.603 others(57): Show c.603-2931_603-2930insTTCTTTCTTTCTTTGTTTCTTTCTTTCT TTCTTTCTTTCT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537702	C C	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0099 a0001c0001t0022g0099	1	250	0.0040	40	c.602 others(57): Show c.602+2791_602+2792insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	15	0.0667	40	c.602 others(57): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGGAAGGAAG GAAGGAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0220 a0001c0005t0008g0220	1	15	0.0667	40	c.602 others(57): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGGAAG GAAGGAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18960.hp1 NA18982.hp2 HG03195.hp2 NA18960.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0074 a0001c0004t0021 a0001c0001t0005 a0001c0001t0074 a0001c0004t0021	a0001c0001t0005g0259 a0001c0001t0074g0131 a0001c0004t0021g0102 a0001c0001t0005g0259 a0001c0001t0074g0131 a0001c0004t0021g0102	3	17	0.1765	40	c.602 others(57): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG GAAGGAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19060.hp1 NA18998.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0011 a0001c0001t0012	a0001c0001t0011g0033 a0001c0001t0012g0034 a0001c0001t0011g0033 a0001c0001t0012g0034	2	16	0.1250	40	c.602 others(57): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGGAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(33): Show CCTTCCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0006 a0001c0001t0078g0006	1	15	0.0667	40	c.602 others(57): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAGGAAAGAAAG AAAGAAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(33): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01515.hp1 HG01517.hp1 others(9): Show HG01243.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG02074.hp1 HG03704.hp2 NA18945.hp1 NA18947.hp1 NA18964.hp2 NA18966.hp1 NA19005.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0007 a0001c0001 a0003c0003 a0005c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0026 a0001c0001t0028 a0001c0001t0059 a0003c0003t0017 a0005c0007t0067	a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0004g0067 others(9): Show a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0004g0067 a0001c0001t0005g0249 a0001c0001t0012g0031 a0001c0001t0013g0255 a0001c0001t0026g0201 a0001c0001t0028g0219 a0001c0001t0059g0071 a0003c0003t0017g0112 a0003c0003t0017g0113 a0005c0007t0067g0062	12	26	0.4615	40	c.602 others(57): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18945.hp2 NA19062.hp1 HG00280.hp2 NA18945.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0085 a0001c0001t0003g0208 a0001c0001t0009g0123 a0001c0001t0001g0085 a0001c0001t0003g0208 a0001c0001t0009g0123	3	17	0.1765	40	c.602 others(57): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10616790	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0115 a0003c0003t0008g0115	1	213	0.0047	40	c.12- others(57): Show c.12-18742_12-18741insTGTATATATATATATATATATATATATA TATATATATATA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10654384	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01071.hp2 others(7): Show HG00642.hp2 HG00733.hp2 HG01071.hp2 HG02015.hp1 HG02155.hp2 HG03239.hp1 HG03942.hp1 NA18952.hp1 NA19057.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0007 a0001c0001t0040 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0040 a0001c0001t0052 a0001c0005t0008 a0001c0005t0027	a0001c0001t0003g0191 a0001c0001t0003g0228 a0001c0001t0003g0236 others(7): Show a0001c0001t0003g0191 a0001c0001t0003g0228 a0001c0001t0003g0236 a0001c0001t0003g0247 a0001c0001t0007g0229 a0001c0001t0007g0230 a0001c0001t0040g0222 a0001c0001t0052g0273 a0001c0005t0008g0220 a0001c0005t0027g0258	10	231	0.0433	40	c.11+ others(57): Show c.11+13474_11+13475insATATATATATATATATATATATATATAT ATATATATATAT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLPS_chr6_35789982_35802323	35800184	T T	TTTTTTTT others(33): Show TTTTTTTTTTTTATTTTTTTTTTTTCTTTTTTTTTTTTAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	416	0.0024	40	c.-28 others(51): Show c.-2897_-2896insCCTAAAAAAAAAAAAGAAAAAAAAAAAATAAAAA AAAAAA	CLPS	ENSG00000137392.10	transcript	ENST00000259938.7	protein_coding		2862		chr6	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	294	0.0034	40	c.253 others(57): Show c.253+3142_253+3143insAAAAAAAATATATATATATATATATATA TATATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140427184	A A	AATATATA others(33): Show AATATATATATATATATGTGTGTGTGTGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0092 a0002c0005t0004g0092	1	100	0.0100	40	c.787 others(57): Show c.787+5926_787+5927insGTGTGTGTGTGTATATATATATATATAT ATATATATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUAP1_chr16_3496004_3544048	3529677	T T	TTATATAT others(33): Show TTATATATTATATATTATATATTATATAATATTATATATTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02818.hp1 others(2): Show HG01069.hp2 HG01071.hp1 HG02818.hp1 HG02976.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0205 a0001c0001t0001g0007 a0001c0001t0001g0205	5	367	0.0136	40	c.929 others(55): Show c.929-881_929-880insATATTATATATTATATAATATTATATATTA TATATATTAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAGAGAG others(33): Show AGAGAGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	122	0.0082	40	c.424 others(53): Show c.424-67_424-66insGAGAGAGAAAAGAAGAAAGAGAAAGAAAGAAA AGAAAAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CLVS2_chr6_122991235_123077925	123040769	A A	AAAAAGAA others(33): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0036 a0001c0001t0068g0036	1	157	0.0064	40	c.565 others(57): Show c.565-7816_565-7815insAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAA	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
CMPK1_chr1_47328790_47383839	47338517	C C	CTCCCTCC others(33): Show CTCCCTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCTCTCCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02615.hp1 HG02717.hp1 others(2): Show HG02165.hp1 HG02615.hp1 HG02717.hp1 HG02818.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0016 a0002c0002t0001 a0002c0002t0016	a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 others(2): Show a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0222 a0002c0002t0016g0086	5	197	0.0254	40	c.171 others(57): Show c.171+4436_171+4475dupTCTCCTTCCCTCCCTCCCTCTCTCCTTC CCTCCCTCCCTC	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CMTM4_chr16_66609750_66701743	66633104	T T	TATATATA others(33): Show TATATATATATAAATATATATATATAAATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02559.hp1 HG02886.hp1 others(1): Show HG01255.hp2 HG02559.hp1 HG02886.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0090 a0001c0001t0001g0107 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0122	4	275	0.0145	40	c.363 others(57): Show c.363+3300_363+3301insTTATATATATATATTTATATATATATAT TTATATATATAT	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	2/3			chr16	TogoVar
CMTM4_chr16_66609750_66701743	66683192	T T	TATACGTA others(33): Show TATACGTATATATATATATACATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0237 a0001c0001t0006g0237	1	231	0.0043	40	c.186 others(59): Show c.186+13147_186+13148insGTATATATATATATATATATGTATAT ATATATATACGTAT	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	1/3			chr16	TogoVar
CNBD1_chr8_86861415_87387859	87307747	A A	AAATTATA others(33): Show AAATTATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	107	0.0093	40	c.104 others(61): Show c.1042+21076_1042+21077insAATTATATATATATATATATATAT ATATATATATATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	8/10			chr8	TogoVar
CNBD1_chr8_86861415_87387859	87368161	A A	AAAAAGAA others(33): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03195.hp1 HG03453.hp2 others(1): Show HG01167.hp2 HG03195.hp1 HG03453.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0087 a0002c0005t0001g0082 a0002c0005t0001g0084 others(1): Show a0001c0001t0001g0087 a0002c0005t0001g0082 a0002c0005t0001g0084 a0002c0005t0001g0086	4	92	0.0435	40	c.130 others(61): Show c.1303+14402_1303+14403insAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNDP1_chr18_74529500_74592212	74573432	C C	CCATCCAT others(33): Show CCATCCATTCATCCATCCATCCATCTATTTATGTATCTATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02965.hp2 others(1): Show HG02109.hp1 HG02572.hp2 HG02965.hp2 HG03195.hp2	a0004 a0007 a0015 a0004 a0007 a0015	a0004c0010 a0007c0024 a0015c0045 a0004c0010 a0007c0024 a0015c0045	a0004c0010t0010 a0004c0010t0012 a0007c0024t0010 others(1): Show a0004c0010t0010 a0004c0010t0012 a0007c0024t0010 a0015c0045t0002	a0004c0010t0010g0100 a0004c0010t0012g0081 a0007c0024t0010g0084 others(1): Show a0004c0010t0010g0100 a0004c0010t0012g0081 a0007c0024t0010g0084 a0015c0045t0002g0110	4	312	0.0128	40	c.841 others(57): Show c.841+2162_841+2163insCATCCATTCATCCATCCATCCATCTATT TATGTATCTATG	CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	7/11			chr18	TogoVar
CNGA2_chrX_151729746_151750564	151742929	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0102 a0003c0003t0002g0102	1	319	0.0031	40	c.590 others(55): Show c.590-152_590-151insATATATATATATATATATATACACATACAT ATATATATAT	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA2_chrX_151729746_151750564	151742929	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp1 HG03831.hp2 others(1): Show HG02257.hp2 HG03139.hp1 HG03831.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0030 a0003c0003t0002g0054 a0003c0003t0002g0067 a0003c0003t0002g0030 a0003c0003t0002g0054 a0003c0003t0002g0067	4	322	0.0124	40	c.590 others(55): Show c.590-152_590-151insATATATATATATATATATATATACATACAT ATATATATAT	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA2_chrX_151729746_151750564	151742939	T T	TATATATA others(33): Show TATATATATATATATATATGTATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	334	0.0030	40	c.590 others(55): Show c.590-152_590-151insATATATATATATATATGTATATATATATAT ATATACACAT	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA2_chrX_151729746_151750564	151742962	A A	ATATATAT others(33): Show ATATATATATATATATACACATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	330	0.0030	40	c.590 others(55): Show c.590-122_590-121insATATATACACATATATATGTATATATATAT GTATATATAT	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTCTTTCTTTTTCTTTCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0095 a0002c0006t0001g0095	1	168	0.0060	40	c.43 others(51): Show c.4376_*4377insGAAAGGAAAGAAAGAAAAAGAAAGAAGAAAGAAA GAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18970.hp1 NA18948.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0275 a0001c0001t0001g0276	2	228	0.0088	40	c.43 others(51): Show c.4364_*4365insAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAA AGAAAG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNKSR3_chr6_154382515_154515685	154382579	C C	CAGGGGAG others(33): Show CAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0128 a0001c0002t0128	a0001c0002t0128g0229 a0001c0002t0128g0229	1	213	0.0047	40	c.23 others(53): Show c.23774_*23775insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCT	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding		4935		chr6	TogoVar
CNKSR3_chr6_154382515_154515685	154415227	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18966.hp1 NA18944.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0098 a0001c0001t0076 a0001c0001t0098	a0001c0001t0076g0171 a0001c0001t0098g0169 a0001c0001t0076g0171 a0001c0001t0098g0169	2	246	0.0081	40	c.946 others(55): Show c.946-805_946-804insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12			chr6	TogoVar

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