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	status	chr	external
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0130 a0001c0001t0019g0130	1	37	0.0270	37	c.62- others(56): Show c.62-366855_62-366854insATATATATATATATATATATATATAT TTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9	INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM4_chr19_43617368_43644850	43635805	C C	CCAGGAGT others(30): Show CCAGGAGTCTAAGACCCCAGCCCCTCCTCCCTCAGACT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02451.hp1 HG03688.hp1 HG01074.hp1 HG02451.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0044 a0002c0002t0001g0190 a0002c0002t0001g0191	3	404	0.0074	37	c.64+ others(52): Show c.64+3885_64+3921dupAGTCTGAGGGAGGAGGGGCTGGGGTCTTAG ACTCCTG	CADM4	ENSG00000105767.3	transcript	ENST00000222374.3	protein_coding	1/8		chr19	TogoVar
CADPS2_chr7_122313411_122891460	122732879	C C	CTATGTAT others(30): Show CTATGTATAATATATATTATATAATATACATTATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp1 HG01167.hp1 others(8): Show HG01070.hp2 HG01109.hp1 HG01167.hp1 HG01346.hp1 HG01952.hp1 HG01978.hp1 HG02683.hp1 HG02723.hp2 HG03239.hp2 HG03942.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010 a0001c0004t0001 a0001c0004t0002	a0001c0001t0002g0107 a0001c0001t0003g0113 a0001c0002t0001g0124 others(8): Show a0001c0001t0002g0107 a0001c0001t0003g0113 a0001c0002t0001g0124 a0001c0002t0003g0116 a0001c0003t0001g0104 a0001c0003t0001g0110 a0001c0003t0002g0108 a0001c0003t0002g0112 a0001c0003t0010g0109 a0001c0004t0001g0111 a0001c0004t0002g0093	11	124	0.0887	37	c.453 others(54): Show c.453+4039_453+4075dupATATATAATGTATATTATATAATATATA TTATACATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29		chr7	TogoVar
CADPS_chr3_62393348_62880416	62599780	T T	TTATATAT others(30): Show TTATATATAATATAATATATATAATATATTATATATAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	62	0.0161	37	c.132 others(56): Show c.1326-7033_1326-7032insTTATATATAATATATTATATATATTA TATTATATATA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	6/29		chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01255.hp1 NA18968.hp2 others(1): Show HG00423.hp1 HG01255.hp1 NA18968.hp2 NA18990.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0190 a0003c0002t0001g0191 a0003c0002t0001g0218 others(1): Show a0003c0002t0001g0190 a0003c0002t0001g0191 a0003c0002t0001g0218 a0003c0002t0001g0224	4	36	0.1111	37	c.912 others(54): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12	INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0068 a0003c0002t0001g0068	1	33	0.0303	37	c.912 others(54): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12	INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0171 a0003c0002t0001g0171	1	33	0.0303	37	c.912 others(54): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT TTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12	INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19067.hp2 HG02165.hp2 NA19067.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0007 a0003c0002t0007	a0003c0002t0007g0183 a0003c0002t0007g0196 a0003c0002t0007g0183 a0003c0002t0007g0196	2	34	0.0588	37	c.912 others(54): Show c.912+1385_912+1386insATATATATATATATATATATATATATTT TTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12	INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48861677	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0019 a0004c0004t0019	a0004c0004t0019g0099 a0004c0004t0019g0099	1	326	0.0031	37	c.114 others(54): Show c.1145-599_1145-598insTATATATATATATATATATATATATATA TATATATAT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	11/12		chr17	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	14	0.0714	37	c.244 others(54): Show c.244+7110_244+7111insATATATATATATATATATTTTTTTTTTT TTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6		chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	14	0.0714	37	c.244 others(54): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATATTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6		chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0019 a0001c0001t0029g0019	1	14	0.0714	37	c.244 others(54): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATATATTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6		chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12387397	T T	TATATTAT others(30): Show TATATTATATATATTATATATTATATATATAATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0201 a0001c0002t0063g0201	1	130	0.0077	37	c.92+ others(54): Show c.92+37487_92+37488insATATTATATATATTATATATTATATATA TAATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12387445	T T	TTATATAT others(30): Show TTATATATTTTATATATTATATATATTTTATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0166 a0001c0002t0016g0166	1	71	0.0141	37	c.92+ others(54): Show c.92+37542_92+37543insTTTATATATTATATATATTTTATATATA TATATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10	INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227049	G G	GTGTGGGG others(30): Show GTGTGGGGGACAGAGGGAGTGTGGAGGACAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG02040.hp2 others(8): Show HG00438.hp1 HG00544.hp1 HG02040.hp2 HG02056.hp1 HG02135.hp2 HG02148.hp2 NA18983.hp2 NA18995.hp2 NA18998.hp2 NA19056.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0005 a0001c0001 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0005 a0001c0006t0003 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0006t0003 a0002c0005t0001 a0002c0005t0003	a0001c0001t0001g0148 a0001c0001t0005g0128 a0001c0001t0005g0129 others(8): Show a0001c0001t0001g0148 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0159 a0001c0006t0003g0182 a0002c0005t0001g0121 a0002c0005t0003g0198 a0002c0005t0003g0203 a0002c0005t0003g0234 a0002c0005t0003g0235	11	223	0.0493	37	c.146 others(54): Show c.1469-406_1469-405insTCCCCCTCTGTCCTCCACACTCCCTCTG TCCCCCACA	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23		chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227397	G G	GAGGGTCT others(30): Show GAGGGTCTGGGGGACAGAGGGAGAGTCTGGGGGACAGA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01168.hp1 HG01169.hp1 others(5): Show HG01123.hp1 HG01168.hp1 HG01169.hp1 NA18942.hp1 NA19002.hp1 NA19057.hp2 NA19084.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0006 a0001c0006t0006 a0001c0003t0006 a0001c0006t0006	a0001c0003t0006g0003 a0001c0003t0006g0041 a0001c0003t0006g0055 others(4): Show a0001c0003t0006g0003 a0001c0003t0006g0041 a0001c0003t0006g0055 a0001c0003t0006g0226 a0001c0006t0006g0138 a0001c0006t0006g0152 a0001c0006t0006g0154	8	228	0.0351	37	c.146 others(54): Show c.1469-754_1469-753insTCTGTCCCCCAGACTCTCCCTCTGTCCC CCAGACCCT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23		chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227767	G G	GGAGGGTG others(30): Show GGAGGGTGTGGAGGACAGAGGAGGGTGTGGGGGACAGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0098 a0001c0004t0003g0098	1	235	0.0043	37	c.146 others(56): Show c.1468+1028_1468+1029insTCTGTCCCCCACACCCTCCTCTGTCC TCCACACCCTC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23		chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227767	G G	GGAGGGTG others(30): Show GGAGGGTGTGGGGGACACAGGAGGGTGTGGGGGACAGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	235	0.0043	37	c.146 others(56): Show c.1468+1028_1468+1029insTCTGTCCCCCACACCCTCCTGTGTCC CCCACACCCTC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23		chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227768	G G	GAGGGTGT others(30): Show GAGGGTGTGGGGGACAGAGGGAGAGTCTGGGGGACAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	238	0.0042	37	c.146 others(56): Show c.1468+1027_1468+1028insTCTGTCCCCCAGACTCTCCCTCTGTC CCCCACACCCT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23		chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227785	G G	GAGGGGGT others(30): Show GAGGGGGTGTGGGGGACAGAGGAGGGTGTGGGGGACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG03130.hp2 others(1): Show HG02647.hp1 HG02922.hp2 HG03130.hp2 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0008 a0001c0004t0001 a0001c0004t0008	a0001c0004t0001g0105 a0001c0004t0008g0001 a0001c0004t0008g0026 a0001c0004t0001g0105 a0001c0004t0008g0001 a0001c0004t0008g0026	4	210	0.0190	37	c.146 others(56): Show c.1468+1010_1468+1011insGTGTCCCCCACACCCTCCTCTGTCCC CCACACCCCCT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23		chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44324664	A A	AATTTGCA others(30): Show AATTTGCAATCCAGTCAGGCTCTTAGTCTCTCCCCGCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0004 a0004c0016t0004	a0004c0016t0004g0008 a0004c0016t0004g0008	1	240	0.0042	37	c.65+ others(50): Show c.65+656_65+692dupAGCGGGGAGAGACTAAGAGCCTGACTGGATTG CAAAT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	1/23		chr7	TogoVar
CAMKK1_chr17_3855315_3898053	3868044	C C	CGTGGGCA others(30): Show CGTGGGCACGGGGGAGATGCAGGCACCGTCTAACTGAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0408 a0001c0002t0064g0408	1	444	0.0023	37	c.134 others(56): Show c.1341+1442_1341+1443insATCAGTTAGACGGTGCCTGCATCTCC CCCGTGCCCAC	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15		chr17	TogoVar
CAMKK2_chr12_121232692_121301709	121295524	A A	AGTGGTGG others(30): Show AGTGGTGGAGTTAGATGGGGGGGGGGGGTGGTGTTTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0307 a0004c0005t0001g0307	1	328	0.0030	37	c.-60 others(54): Show c.-60+1113_-60+1114insACAAACACCACCCCCCCCCCCCATCTAA CTCCACCAC	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	1/16		chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44410247	A A	AGACTATA others(30): Show AGACTATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG06807.hp1 NA19091.hp1 HG03579.hp2 HG06807.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0098	3	107	0.0280	37	c.376 others(56): Show c.376+19942_376+19943insGACTATATATATATATATATATATAT ATATATATTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135892848	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	81	0.0123	37	c.161 others(54): Show c.161-9771_161-9770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16		chr9	TogoVar
CAMTA1_chr1_6780454_7774706	7139249	A A	ATTATAAA others(30): Show ATTATAAAATTATATTCATAATATAAATATATTTATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp1 HG02055.hp2 others(4): Show HG00735.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp2 NA19043.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0001c0016 a0004c0012	a0001c0001t0011 a0001c0001t0012 a0001c0001t0025 others(4): Show a0001c0001t0011 a0001c0001t0012 a0001c0001t0025 a0001c0002t0001 a0001c0015t0006 a0001c0016t0024 a0004c0012t0022	a0001c0001t0011g0058 a0001c0001t0012g0019 a0001c0001t0025g0052 others(4): Show a0001c0001t0011g0058 a0001c0001t0012g0019 a0001c0001t0025g0052 a0001c0002t0001g0020 a0001c0015t0006g0043 a0001c0016t0024g0053 a0004c0012t0022g0017	7	58	0.1207	37	c.302 others(56): Show c.302+47884_302+47920dupAAATTATATTCATAATATAAATATAT TTATATTTATA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22	INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(30): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0054 a0001c0001t0013g0054	1	13	0.0769	37	c.438 others(56): Show c.438+26678_438+26679insATATATATATATATATATATTTTTTT TTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22	INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(30): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	13	0.0769	37	c.438 others(56): Show c.438+26678_438+26679insATATATATATATATTTTTTTTTTTTT TTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22	INFO_REALIGN_3_PRIME	chr1	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG00642.hp2 others(2): Show HG00323.hp2 HG00621.hp1 HG00642.hp2 HG01081.hp2 NA18965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0083 others(2): Show a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0083 a0001c0001t0003g0087 a0002c0002t0003g0051	5	110	0.0455	37	c.721 others(52): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14	INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN11_chr6_44153820_44189401	44181449	T T	TCACACAC others(30): Show TCACACACACACACACTCACATACACAACCACACCACA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19068.hp1 NA19007.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	169	0.0118	37	c.193 others(54): Show c.1938+144_1938+145insTCACATACACAACCACACCACACACACA CACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22	INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181607	C C	CACTCACA others(30): Show CACTCACACACACACACACACACTCACATACAGACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00558.hp2 others(34): Show HG00140.hp2 HG00544.hp2 HG00558.hp2 HG01167.hp2 HG01975.hp2 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02273.hp2 HG02300.hp2 HG02738.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp1 HG04204.hp2 NA18940.hp1 NA18942.hp2 NA18948.hp1 NA18960.hp2 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18985.hp1 NA19005.hp1 NA19005.hp2 NA19054.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp2 NA19080.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0002g0003 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0009	37	458	0.0808	37	c.193 others(54): Show c.1938+289_1938+290insTCACACACACACACACACACTCACATAC AGACACAAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22	INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181615	T T	TCACACAC others(30): Show TCACACACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00639.hp1 others(15): Show HG00140.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG02027.hp1 HG02129.hp2 HG03927.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0008g0009	18	408	0.0441	37	c.193 others(54): Show c.1938+307_1938+308insCACTCACATACAGACACAACCACACCAC ACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22	INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181744	A A	ACACACAC others(30): Show ACACACACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19065.hp2 NA19060.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	458	0.0044	37	c.193 others(54): Show c.1938+434_1938+435insCACACTCACATACAGACACAACCACACC ACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22	INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPZB_chr1_19333775_19490539	19366314	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0278 a0001c0002t0003g0278	1	362	0.0028	37	c.330 others(54): Show c.330-8752_330-8751insATATATATATATATATATATATATATAT ATATATATA	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8		chr1	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	30	0.0333	37	c.93+ others(52): Show c.93+2800_93+2801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8		chr1	TogoVar
CARM1_chr19_10866553_10928075	10901948	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19002.hp2 HG00621.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0301 a0001c0001t0001g0226 a0001c0001t0001g0301	2	347	0.0058	37	c.221 others(54): Show c.221-3001_221-3000insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/15	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25450975	T T	TCCCCTCT others(30): Show TCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	169	0.0059	37	c.614 others(52): Show c.614+266_614+267insCCTCTCCCCTCTCCCCTCTCCCCTCTCCCC TCTCCCC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36	INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450980	T T	TCTTCTCT others(30): Show TCTTCTCTTCTCCTCTCCCCTCTCCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02165.hp2 HG04184.hp2 others(2): Show HG01081.hp2 HG02165.hp2 HG04184.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0018 a0001c0001 a0001c0003 a0001c0018	a0001c0001t0005 a0001c0003t0002 a0001c0003t0004 others(2): Show a0001c0001t0005 a0001c0003t0002 a0001c0003t0004 a0001c0003t0010 a0001c0018t0001	a0001c0001t0005g0146 a0001c0003t0002g0052 a0001c0003t0004g0119 others(2): Show a0001c0001t0005g0146 a0001c0003t0002g0052 a0001c0003t0004g0119 a0001c0003t0010g0183 a0001c0018t0001g0123	5	145	0.0345	37	c.614 others(52): Show c.614+270_614+271insTTCTCTTCTCCTCTCCCCTCTCCCCTCTCC CCTCTCC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36	INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459269	T T	TCTTTCTT others(30): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0122 a0001c0004t0018g0122	1	171	0.0058	37	c.615 others(54): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25586080	T T	TGGTGGCC others(30): Show TGGTGGCCAGGCAGAGGGGCTGCTCACCTCCCAGACGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02970.hp2 others(2): Show HG02109.hp2 HG02486.hp2 HG02970.hp2 HG03225.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0033 a0001c0001 a0001c0002 a0001c0033	a0001c0001t0008 a0001c0001t0015 a0001c0002t0008 others(1): Show a0001c0001t0008 a0001c0001t0015 a0001c0002t0008 a0001c0033t0001	a0001c0001t0008g0014 a0001c0001t0015g0177 a0001c0001t0015g0182 others(2): Show a0001c0001t0008g0014 a0001c0001t0015g0177 a0001c0001t0015g0182 a0001c0002t0008g0059 a0001c0033t0001g0120	5	184	0.0272	37	c.300 others(56): Show c.3006+4643_3006+4644insTGGCCAGGCAGAGGGGCTGCTCACCT CCCAGACGGGG	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	31/36	INFO_REALIGN_3_PRIME	chr6	TogoVar
CASP4_chr11_104937866_104973574	104957242	G G	GTAGTGTT others(30): Show GTAGTGTTTCTGTATAACAATAAACCATCTTTAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	356	0.0028	37	c.8-2 others(50): Show c.8-2278_8-2242dupTTTTTTAAAGATGGTTTATTGTTATACAGAAA CACTA	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	1/8		chr11	TogoVar
CATSPER2_chr15_43623503_43653844	43638286	C C	CTTTCTTT others(30): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	206	0.0049	37	c.842 others(52): Show c.842+617_842+618insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGAAA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	7/12		chr15	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA20905.hp1 HG01257.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0105 a0003c0004t0001g0179 a0001c0001t0001g0105 a0003c0004t0001g0179	2	47	0.0426	37	c.142 others(56): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT TTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21	INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02895.hp2 HG00741.hp1 HG02895.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0232 a0003c0004t0001g0023 a0001c0001t0001g0232 a0003c0004t0001g0023	2	47	0.0426	37	c.142 others(56): Show c.1428-1156_1428-1155insATATATATATATATATATATATTTTT TTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21	INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5763847	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0034 a0034	a0034c0028 a0034c0028	a0034c0028t0001 a0034c0028t0001	a0034c0028t0001g0102 a0034c0028t0001g0102	1	84	0.0119	37	c.150 others(54): Show c.1506+572_1506+573insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21	INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244621155	A A	AATCTATA others(30): Show AATCTATATATTATATATAGATATATTTATATAAATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0157	1	75	0.0133	37	c.264 others(56): Show c.2648+3471_2648+3472insCTATATATTATATATAGATATATTTA TATAAATATAT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21	INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18992.hp2 HG02280.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0223 a0001c0001t0003g0217 a0001c0001t0001g0223 a0001c0001t0003g0217	2	120	0.0167	37	c.195 others(54): Show c.195+7707_195+7708insATATATATATATATATATATATATATTT TTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2	INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	68	0.0147	37	c.510 others(54): Show c.510+1707_510+1708insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10	INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88961564	A A	AGTAACCG others(30): Show AGTAACCGACACTCAGCACTGGGCATTCCCACTCCATG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	282	0.0035	37	c.151 others(56): Show c.151+15092_151+15093insCATGGAGTGGGAATGCCCAGTGCTGA GTGTCGGTTAC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11		chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88961618	A A	ACTGGGCA others(30): Show ACTGGGCATTCCCACTCCATAGTAACCGACACTCAGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(39): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00597.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01167.hp1 HG01346.hp1 HG01517.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp2 HG02630.hp1 HG02886.hp2 HG02965.hp2 HG03098.hp1 HG03239.hp1 HG03492.hp2 HG03688.hp2 HG03831.hp2 HG03927.hp2 NA18947.hp1 NA18950.hp1 NA18964.hp2 NA18969.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19057.hp1 NA19079.hp1 NA19085.hp1 NA19090.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0003c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0021 a0001c0002t0001 a0001c0011t0001 a0003c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0042 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0109 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0241 a0001c0001t0001g0257 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0004g0039 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0012g0239 a0001c0001t0021g0041 a0001c0002t0001g0102 a0001c0002t0001g0114 a0001c0011t0001g0055 a0003c0007t0001g0143 a0003c0007t0001g0144	42	243	0.1728	37	c.151 others(56): Show c.151+15002_151+15038dupCGCTGAGTGTCGGTTACTATGGAGTG GGAATGCCCAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11		chr16	TogoVar

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