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
CAMK2D_chr4_113446032_113766738	113709746	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03471.hp2 HG02055.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0151 a0001c0001t0007g0184 a0001c0001t0004g0151 a0001c0001t0007g0184	2	54	0.0370	36	c.161 others(55): Show c.161-48010_161-47975dupATATATATATATATATATATATATAT ATATATATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2G_chr10_73807501_73879555	73820458	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	277	0.0036	36	c.125 others(53): Show c.1250-814_1250-813insTATATATATATATATATATATATATATA TATATATA	CAMK2G	ENSG00000148660.22	transcript	ENST00000423381.6	protein_coding	18/22			chr10	TogoVar
CAMKK2_chr12_121232692_121301709	121255224	A A	ATATATAT others(29): Show ATATATATAATTATATATATAATTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA21309.hp1 HG02451.hp2 NA21309.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0006 a0001c0013t0001 a0001c0013t0006	a0001c0013t0001g0108 a0001c0013t0006g0106 a0001c0013t0001g0108 a0001c0013t0006g0106	2	316	0.0063	36	c.907 others(51): Show c.907+325_907+326insATTATATATATATAATTATATATATAATTA TATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255224	A A	ATATATAT others(29): Show ATATATATAATTATATATATAATTTTATATATATAAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp2 HG06807.hp1 HG02257.hp1 HG02809.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0015 a0001c0011 a0002c0015	a0001c0011t0006 a0002c0015t0023 a0001c0011t0006 a0002c0015t0023	a0001c0011t0006g0004 a0001c0011t0006g0016 a0002c0015t0023g0328 a0001c0011t0006g0004 a0001c0011t0006g0016 a0002c0015t0023g0328	3	317	0.0095	36	c.907 others(51): Show c.907+325_907+326insATTATATATATAAAATTATATATATAATTA TATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121268083	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01167.hp1 HG02027.hp1 others(2): Show HG00140.hp2 HG01167.hp1 HG02027.hp1 HG03834.hp1 NA19009.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0004 a0002c0006 others(1): Show a0002c0002 a0002c0004 a0002c0006 a0005c0012	a0002c0002t0001 a0002c0004t0002 a0002c0006t0004 others(1): Show a0002c0002t0001 a0002c0004t0002 a0002c0006t0004 a0005c0012t0002	a0002c0002t0001g0282 a0002c0004t0002g0128 a0002c0004t0002g0228 others(2): Show a0002c0002t0001g0282 a0002c0004t0002g0128 a0002c0004t0002g0228 a0002c0006t0004g0288 a0005c0012t0002g0110	5	150	0.0333	36	c.625 others(51): Show c.625+554_625+555insATATATATATATATATATATATATATATAT ATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121268099	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	322	0.0031	36	c.625 others(51): Show c.625+538_625+539insGTATATATATATATATATATATATATATAT ATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44410231	G G	GTATATAT others(29): Show GTATATATATATAGTCTATAGACTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01243.hp2 HG02615.hp1 others(5): Show HG00423.hp1 HG01243.hp2 HG02615.hp1 HG02622.hp1 HG02965.hp1 HG03540.hp1 NA19007.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0057 a0001c0001t0001g0084 a0001c0001t0001g0093 others(5): Show a0001c0001t0001g0057 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0002g0112 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0004g0005	8	105	0.0762	36	c.376 others(55): Show c.376+19938_376+19939insGTCTATAGACTATATATATATATATA TATATATATA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135838598	T T	TACCCGTT others(29): Show TACCCGTTCTACAGACACACATCATCATGCACTTTCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18612.hp1 NA18960.hp1 HG02602.hp1 NA18612.hp1 NA18960.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0117 a0001c0011t0006g0126 a0001c0011t0006g0308 a0001c0011t0006g0117 a0001c0011t0006g0126 a0001c0011t0006g0308	3	338	0.0089	36	c.104 others(57): Show c.1046-11015_1046-11014insGGAAAGTGCATGATGATGTGTGTC TGTAGAACGGGT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135838638	C C	CGTTCTAC others(29): Show CGTTCTACAGACACACATCATCACGCACTTTCCACCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01261.hp2 HG01884.hp1 others(11): Show HG01255.hp1 HG01261.hp2 HG01884.hp1 HG02109.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02809.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0028 a0001c0002 a0001c0008 a0001c0028	a0001c0002t0005 a0001c0008t0006 a0001c0008t0013 others(2): Show a0001c0002t0005 a0001c0008t0006 a0001c0008t0013 a0001c0008t0026 a0001c0028t0029	a0001c0002t0005g0324 a0001c0002t0005g0326 a0001c0002t0005g0327 others(11): Show a0001c0002t0005g0324 a0001c0002t0005g0326 a0001c0002t0005g0327 a0001c0002t0005g0328 a0001c0002t0005g0329 a0001c0002t0005g0330 a0001c0002t0005g0331 a0001c0002t0005g0332 a0001c0008t0006g0292 a0001c0008t0006g0293 a0001c0008t0006g0295 a0001c0008t0013g0013 a0001c0008t0026g0296 a0001c0028t0029g0323	14	334	0.0419	36	c.104 others(57): Show c.1046-11055_1046-11054insAGGTGGAAAGTGCGTGATGATGTG TGTCTGTAGAAC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135892848	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19043.hp1 HG02572.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0031 a0001c0001t0002 a0001c0002t0031	a0001c0001t0002g0034 a0001c0002t0031g0297 a0001c0001t0002g0034 a0001c0002t0031g0297	2	82	0.0244	36	c.161 others(53): Show c.161-9771_161-9770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CAMTA1_chr1_6780454_7774706	7594117	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0009 a0006c0013t0009	a0006c0013t0009g0033 a0006c0013t0009g0033	1	46	0.0217	36	c.511 others(55): Show c.511-46259_511-46258insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02083.hp2 NA19087.hp1 HG01109.hp1 HG02083.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0009t0003 a0001c0001t0003 a0001c0009t0003	a0001c0001t0003g0035 a0001c0001t0003g0086 a0001c0009t0003g0091 a0001c0001t0003g0035 a0001c0001t0003g0086 a0001c0009t0003g0091	3	108	0.0278	36	c.721 others(51): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN12_chr19_38725192_38749474	38735639	G G	GGTAGGGA others(29): Show GGTAGGGACCGTAGGGACCGTAGGGACCGTAGGGACC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0008 a0008	a0008c0030 a0008c0030	a0008c0030t0007 a0008c0030t0007	a0008c0030t0007g0289 a0008c0030t0007g0289	1	315	0.0032	36	c.158 others(51): Show c.1584-96_1584-95insGGTCCCTACGGTCCCTACGGTCCCTACGGT CCCTAC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735687	G G	GGGGGCGG others(29): Show GGGGGCGGGGCGGGGCGGGGCGGGGGGTTCTGGGGGC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0021 a0021	a0021c0017 a0021c0017	a0021c0017t0003 a0021c0017t0003	a0021c0017t0003g0262 a0021c0017t0003g0262	1	294	0.0034	36	c.158 others(53): Show c.1584-144_1584-143insGCCCCCAGAACCCCCCGCCCCGCCCCGC CCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735886	G G	GGTTCTGG others(29): Show GGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGGTTCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0068 a0002c0004t0001g0068	1	305	0.0033	36	c.158 others(53): Show c.1583+223_1583+224insAGAACCCCCCGCCCCGCCCCGCCCCGCC CCCAGAAC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN13_chr2_30717771_30812446	30758792	T T	TCCCTCCC others(29): Show TCCCTCCCTCCCTCCCTTCCCTTCCTCCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03486.hp2 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0282 a0001c0001t0001g0238 a0001c0001t0001g0282	2	380	0.0053	36	c.775 others(51): Show c.775-656_775-655insGGGAGGAAGGGAGGAAGGGAAGGGAGGGAG GGAGGG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30800133	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	382	0.0026	36	c.-33 others(53): Show c.-33+7168_-33+7169insACTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30800149	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0372 a0001c0001t0003g0372	1	379	0.0026	36	c.-33 others(53): Show c.-33+7152_-33+7153insACTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30800153	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0373 a0001c0001t0002g0373	1	382	0.0026	36	c.-33 others(53): Show c.-33+7148_-33+7149insACTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN15_chr16_522712_559636	544874	T T	TCACGTCG others(29): Show TCACGTCGTCGTCTCCCCCCACGTCGTCGTCTCCCCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02257.hp2 others(7): Show HG01069.hp2 HG01071.hp2 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03540.hp1	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0006 a0004c0018 a0004c0019 others(2): Show a0001c0006 a0004c0018 a0004c0019 a0004c0077 a0012c0076	a0001c0006t0003 a0004c0018t0014 a0004c0019t0001 others(3): Show a0001c0006t0003 a0004c0018t0014 a0004c0019t0001 a0004c0019t0007 a0004c0077t0030 a0012c0076t0003	a0001c0006t0003g0007 a0001c0006t0003g0269 a0001c0006t0003g0276 others(5): Show a0001c0006t0003g0007 a0001c0006t0003g0269 a0001c0006t0003g0276 a0004c0018t0014g0008 a0004c0019t0001g0284 a0004c0019t0007g0285 a0004c0077t0030g0286 a0012c0076t0003g0287	10	357	0.0280	36	c.-22 others(53): Show c.-22-1908_-22-1907insCCACGTCGTCGTCTCCCCCCACGTCGTC GTCTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN3_chr15_42354501_42417317	42380751	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0280 a0001c0013t0001g0280	1	100	0.0100	36	c.310 others(53): Show c.310-3731_310-3730insATATATATATATATATATATATATATAT TTTTTTTT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN3_chr15_42354501_42417317	42380751	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0003 a0016c0019t0003	a0016c0019t0003g0011 a0016c0019t0003g0011	1	100	0.0100	36	c.310 others(53): Show c.310-3731_310-3730insATATATATATATATATATATATTTTTTT TTTTTTTT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPZA1_chr1_112614832_112676616	112638915	T T	TATAGATA others(29): Show TATAGATATAGATATAGATATAGGTATAGATATAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03453.hp2 HG02922.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0120 a0001c0001t0001g0123	2	364	0.0055	36	c.40- others(51): Show c.40-8289_40-8254dupTATAGATATAGATATAGGTATAGATATAGA GATAGA	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01071.hp1 HG01934.hp1 others(10): Show HG00544.hp2 HG01071.hp1 HG01934.hp1 HG01978.hp1 HG01993.hp2 HG02040.hp2 HG02074.hp1 HG02155.hp2 HG02257.hp1 HG02615.hp1 NA18955.hp1 NA18982.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0002t0003 a0001c0006t0003	a0001c0001t0001g0049 a0001c0001t0001g0082 a0001c0001t0001g0133 others(10): Show a0001c0001t0001g0049 a0001c0001t0001g0082 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0200 a0001c0001t0001g0240 a0001c0001t0002g0071 a0001c0001t0006g0197 a0001c0001t0007g0005 a0001c0002t0003g0353 a0001c0006t0003g0099	13	207	0.0628	36	c.330 others(53): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT ATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366305	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	320	0.0031	36	c.330 others(53): Show c.330-8743_330-8742insTTATATATATATATATATATATATATAT ATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366307	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0225 a0001c0002t0003g0225	1	338	0.0030	36	c.330 others(53): Show c.330-8745_330-8744insTTATTTATATATATATATATATATATAT ATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366307	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0361 a0001c0002t0002g0361	1	338	0.0030	36	c.330 others(53): Show c.330-8745_330-8744insTTATATATATATATATATATATATATAT ATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CARD8_chr19_48203086_48260912	48220993	G G	GGAAGGAA others(29): Show GGAAGGAAGGAGGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0108 a0002c0001t0001g0108	1	306	0.0033	36	c.116 others(53): Show c.1161+736_1161+737insTTTCCTTCCTTCCTTCCTTCCTTCCCTC CTTCCTTC	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARM1_chr19_10866553_10928075	10901948	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	346	0.0029	36	c.221 others(53): Show c.221-3001_221-3000insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25313683	G G	GCATATAT others(29): Show GCATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0184 a0001c0004t0009g0184	1	110	0.0091	36	c.138 others(55): Show c.138+28774_138+28775insCATATATATATATATATATATATATA TATATATATA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(29): Show ATATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0145 a0001c0002t0007g0145	1	24	0.0417	36	c.371 others(53): Show c.371+5734_371+5735insATATATATATATATATATATATGTGTGT GTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450984	C C	CTCTCCCC others(29): Show CTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0151 a0001c0012t0005g0151	1	38	0.0263	36	c.614 others(51): Show c.614+273_614+274insTCTCCCCTCTCCCCTCTCCCCTCTCCCCTC TCCCCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459210	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA21309.hp1 HG01106.hp2 NA21309.hp1	a0001 a0012 a0001 a0012	a0001c0006 a0012c0036 a0001c0006 a0012c0036	a0001c0006t0002 a0012c0036t0001 a0001c0006t0002 a0012c0036t0001	a0001c0006t0002g0021 a0012c0036t0001g0001 a0001c0006t0002g0021 a0012c0036t0001g0001	2	125	0.0160	36	c.615 others(53): Show c.615-6639_615-6604dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(29): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp2 HG04184.hp2 HG02723.hp2 HG02976.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0189 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0189	3	270	0.0111	36	c.802 others(53): Show c.802-2554_802-2553insGGGAGGGAGGGAGGGAGGGAGGGAGGGA AGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS2_chr13_110636417_110711116	110679573	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAGAGGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	76	0.0132	36	c.656 others(53): Show c.656-2471_656-2470insTTCTTTCTCTCTCTCTCCTCTTCTTTCT TTCTTTCT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASK_chrX_41509934_41928554	41829706	T T	TATATACA others(29): Show TATATACATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18990.hp1 NA19074.hp1 others(2): Show NA18973.hp2 NA18990.hp1 NA19074.hp1 NA19077.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(2): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014	5	155	0.0323	36	c.172 others(55): Show c.172+23408_172+23409insGTATATATATATATATATATATATAT ATATGTATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41861715	G G	GTGTATAT others(29): Show GTGTATATATACACATATATAATGTATATATATTACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02055.hp1 NA18522.hp1 HG00140.hp1 HG02055.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014	a0001c0001t0004g0133 a0001c0001t0012g0148 a0001c0001t0014g0022 a0001c0001t0004g0133 a0001c0001t0012g0148 a0001c0001t0014g0022	3	161	0.0186	36	c.60- others(51): Show c.60-8524_60-8489dupTGTAATATATATACATTATATATGTGTATA TATACA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP3_chr4_184622696_184654447	184651290	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	355	0.0028	36	c.-20 others(47): Show c.-2079_-2078insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding		1844		chr4	TogoVar
CASR_chr3_122178668_122296629	122252407	G G	GTAGGAAG others(29): Show GTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02280.hp2 HG02451.hp2 others(3): Show HG01257.hp1 HG02280.hp2 HG02451.hp2 HG03041.hp2 HG03195.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0022 a0001c0001t0001g0168 a0001c0001t0003g0028 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0168 a0001c0001t0003g0028 a0001c0001t0005g0037 a0001c0001t0005g0131 a0001c0001t0007g0140	6	235	0.0255	36	c.-24 others(55): Show c.-242-1541_-242-1540insTAGGAAGGAAAAAGAAAGAAAGAAAG AAAGAAAGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAAAA others(29): Show AGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	39	0.0256	36	c.-24 others(55): Show c.-242-1539_-242-1538insGGAAAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(29): Show AGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0201 a0001c0001t0006g0201	1	39	0.0256	36	c.-24 others(55): Show c.-242-1539_-242-1538insGGAAGGAAAAAGAAAGAAAGAAAGAA AGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18971.hp1 HG02055.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0022 a0002c0002t0002 a0001c0001t0022 a0002c0002t0002	a0001c0001t0022g0181 a0002c0002t0002g0277 a0001c0001t0022g0181 a0002c0002t0002g0277	2	40	0.0500	36	c.-24 others(55): Show c.-242-1539_-242-1538insGGAAGGAAGGAAAAAGAAAGAAAGAA AGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0210 a0002c0002t0002g0210	1	39	0.0256	36	c.-24 others(55): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAAAAGAAAGAA AGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGT others(29): Show AGGAAGGTAGGAAGGAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0035 a0001c0001t0007 a0001c0001t0035	a0001c0001t0007g0171 a0001c0001t0035g0149 a0001c0001t0007g0171 a0001c0001t0035g0149	2	40	0.0500	36	c.-24 others(55): Show c.-242-1539_-242-1538insGGAAGGTAGGAAGGAAAAAGAAAGAA AGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGTAGGA others(29): Show AGGTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01168.hp2 HG02717.hp2 HG00099.hp2 HG01168.hp2 HG02717.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0001c0001t0013 a0003c0005t0011 a0001c0001t0003 a0001c0001t0013 a0003c0005t0011	a0001c0001t0003g0017 a0001c0001t0013g0104 a0003c0005t0011g0112 a0001c0001t0003g0017 a0001c0001t0013g0104 a0003c0005t0011g0112	3	41	0.0732	36	c.-24 others(55): Show c.-242-1539_-242-1538insGGTAGGAAGGAAAAAGAAAGAAAGAA AGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(29): Show ACACACACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0058	1	87	0.0115	36	c.113 others(51): Show c.113+785_113+786insACACACACACACACACACACACTCTCTCTC TCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(29): Show ACACACACACACACACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02723.hp1 HG02280.hp1 HG02451.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0028 a0001c0003t0082 a0001c0001t0001 a0001c0001t0028 a0001c0003t0082	a0001c0001t0001g0001 a0001c0001t0028g0053 a0001c0003t0082g0042 a0001c0001t0001g0001 a0001c0001t0028g0053 a0001c0003t0082g0042	3	89	0.0337	36	c.113 others(51): Show c.113+785_113+786insACACACACACACACACACACTCTCTCTCTC TCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(29): Show ACACACACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0064 a0001c0001t0008g0064	1	87	0.0115	36	c.113 others(51): Show c.113+785_113+786insACACACACACACACACACTCTCTCTCTCTC TCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026188	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0203 a0001c0001t0049g0203	1	209	0.0048	36	c.14 others(47): Show c.1489_*1490insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1490		chr7	TogoVar
CASZ1_chr1_10631604_10801646	10700080	G G	GACACACA others(29): Show GACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0017	a0001c0009t0017g0148 a0001c0009t0017g0148	1	103	0.0097	36	c.-24 others(53): Show c.-24+5376_-24+5411dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar

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