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
CPO_chr2_206934518_206974474	206943667	A A	AGATAGAT others(43): Show AGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATGAT G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	400	0.0025	50	c.68+ others(65): Show c.68+4046_68+4047insGATGGATAGATGATAGATAGATAGATAGAT AGATAGATAGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206943674	T T	TGATAGAT others(43): Show TGATAGATAGATAGATAGATAGATAGATAGATAGATGATGGATAGATGAT A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp2 HG01069.hp1 others(13): Show HG00423.hp1 HG00735.hp2 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01433.hp2 HG02129.hp1 NA18970.hp1 NA18979.hp2 NA19002.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19086.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0001 a0003c0005t0001 a0002c0002t0001 a0003c0005t0001	a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0019 others(5): Show a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0077 a0002c0002t0001g0095 a0003c0005t0001g0079	16	281	0.0569	50	c.68+ others(65): Show c.68+4042_68+4043insGATGGATAGATGATAGATAGATAGATAGAT AGATAGATAGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206943674	T T	TGATAGAT others(43): Show TGATAGATAGATAGATAGATAGATAGATAGATGATGGATAGATGATAGAT A	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18986.hp2 HG00597.hp1 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0078 a0002c0002t0001g0069 a0002c0002t0001g0078	2	267	0.0075	50	c.68+ others(65): Show c.68+4038_68+4039insGATGGATAGATGATAGATAGATAGATAGAT AGATAGATAGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206943736	A A	AGATAGAT others(43): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGATGATGGATAGA T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	414	0.0024	50	c.68+ others(65): Show c.68+4108_68+4109insGATGGATAGATGATAGATAGATAGATAGAT AGATAGATAGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0171	1	248	0.0040	50	c.289 others(69): Show c.289+14928_289+14929insCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATATATATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0114 a0004c0004t0007g0114	1	248	0.0040	50	c.289 others(69): Show c.289+14928_289+14929insCTCTCTCTCTCTATATATATATATAT ATATATATATATATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATAGAGAGAGA G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0287 a0001c0001t0063g0287	1	248	0.0040	50	c.289 others(69): Show c.289+14928_289+14929insCTCTCTCTCTATATATATATATATAT ATATATATATATATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPS1_chr2_210551599_210684107	210597829	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATATA C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0006 a0002c0009t0006	a0002c0009t0006g0078 a0002c0009t0006g0078	1	334	0.0030	50	c.136 others(69): Show c.1360-1540_1360-1539insTATATATATATATATATATATATATA TATATATATATATATATATACATA	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF2_chr14_92116969_92177145	92173382	C C	CGTATATA others(43): Show CGTATATATATATGTGTATATATATATATATACATATGTATATATATATG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG04204.hp2 HG01175.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0126 a0001c0001t0005 a0001c0001t0126	a0001c0001t0005g0002 a0001c0001t0126g0002 a0001c0001t0005g0002 a0001c0001t0126g0002	2	299	0.0067	50	c.11 others(63): Show c.11638_*11639insGTATATATATATGTGTATATATATATATATAC ATATGTATATATATATGT	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1238		chr14	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATGTTTTTTT T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	161	0.0062	50	c.103 others(67): Show c.103+1490_103+1491insATATATATATATATATATATATATATAT ATATATATATATGTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPT1C_chr19_49686116_49718731	49701954	A A	ATATATAA others(43): Show ATATATAATATTTATATTTATATAAAAATTTATATATAAATATATAATAT T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	253	0.0040	50	c.693 others(65): Show c.693+325_693+326insAATATTTATATTTATATAAAAATTTATATA TAAATATATAATATTTATAT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49701954	A A	ATATATAA others(43): Show ATATATAATATTTATATTTATATATAAATTTATATATAAATATATAATAT T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01346.hp2 others(4): Show HG01070.hp2 HG01071.hp1 HG01346.hp2 HG02486.hp1 HG02818.hp2 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0168 a0001c0001t0002g0169 others(3): Show a0001c0001t0002g0011 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172	7	259	0.0270	50	c.693 others(65): Show c.693+325_693+326insAATATTTATATTTATATATAAATTTATATA TAAATATATAATATTTATAT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49702039	T T	TTATTTAT others(43): Show TTATTTATAAATTATAAATAAATATATATTTATTTATAAATTATAAATAT A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp2 NA18967.hp2 HG00544.hp2 HG01109.hp2 NA18967.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0259 a0002c0003t0001g0232 a0002c0003t0001g0275 a0001c0001t0001g0259 a0002c0003t0001g0232 a0002c0003t0001g0275	3	348	0.0086	50	c.693 others(65): Show c.693+424_693+425insAATATATATTTATTTATAAATTATAAATAT ATATTTATAAATTATAAATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPXM2_chr10_123740639_123896807	123881225	A A	ACCCTCCC others(43): Show ACCCTCCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCT T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00733.hp1 others(10): Show HG00140.hp2 HG00280.hp1 HG00733.hp1 HG01099.hp2 HG01106.hp1 HG01255.hp2 HG02257.hp1 HG02300.hp1 HG02615.hp2 HG02976.hp2 HG03453.hp1 HG03490.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0027	a0001c0001t0001 a0001c0001t0010 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0002 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0010t0002 a0001c0027t0001	a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0043 others(10): Show a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0235 a0001c0001t0010g0039 a0001c0002t0002g0046 a0001c0002t0002g0052 a0001c0003t0002g0050 a0001c0004t0001g0044 a0001c0004t0001g0048 a0001c0005t0001g0038 a0001c0010t0002g0045 a0001c0027t0001g0047	13	160	0.0813	50	c.305 others(65): Show c.305-917_305-916insAAGGGGAGGGGAGGGGAGGGGAGGGAAGGG GAGGGGAGGGGAGGGGAGGG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CR1_chr1_207491157_207646765	207515047	A A	ATGTATAT others(43): Show ATGTATATATGTATATATACGTATATACATATGCATACGTGTATGTATAT G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0062 a0003c0003t0003g0062	1	358	0.0028	50	c.487 others(67): Show c.487+3420_487+3421insATATGCATACGTGTATGTATATGTGTAT ATATGTATATATACGTATATAC	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	4/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACD_chr4_56044098_56335609	56214679	C C	CTTTCTCT others(43): Show CTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATAT A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	174	0.0057	50	c.-18 others(71): Show c.-189+35250_-189+35251insTTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTATATATATAT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56214679	C C	CTTTCTCT others(43): Show CTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATAT A	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0152 a0001c0001t0033g0152	1	174	0.0057	50	c.-18 others(71): Show c.-189+35250_-189+35251insTTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTATATATAT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3745780	A A	AAAAATAA others(43): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01934.hp2 NA18956.hp2 others(2): Show HG01106.hp1 HG01934.hp2 NA18956.hp2 NA18974.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(2): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0216 a0001c0001t0001g0217	5	134	0.0373	50	c.-38 others(69): Show c.-387+7234_-387+7235insATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CRACR2B_chr11_822919_836986	833785	T T	TCACACAT others(43): Show TCACACATCCCCCCATCGGTGGCAGACACACAACCCCCCCTCGGTGGCAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	446	0.0022	50	c.20 others(61): Show c.2076_*2077insCACACATCCCCCCATCGGTGGCAGACACACAACC CCCCCTCGGTGGCAGA	CRACR2B	ENSG00000177685.17	transcript	ENST00000525077.2	protein_coding		1800		chr11	TogoVar
CREB5_chr7_28407518_28830894	28560881	T T	TGTGTGCG others(43): Show TGTGTGCGCGTGTGCGCGCGTGCGTGTGTGCGTGTGTGCGTGCGTGCGTG C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	147	0.0068	50	c.292 others(67): Show c.292-9483_292-9482insTGTGCGCGTGTGCGCGCGTGCGTGTGTG CGTGTGTGCGTGCGTGCGTGCG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560887	C C	CGCGTGTG others(43): Show CGCGTGTGCGCGCGTGCGTGTGTGCGTGTGTGCGTGCGTGCGTGCGTGTG T	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0108 a0001c0001t0018g0108	1	167	0.0060	50	c.292 others(67): Show c.292-9477_292-9476insCGTGTGCGCGCGTGCGTGTGTGCGTGTG TGCGTGCGTGCGTGCGTGTGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560969	T T	TGTGTGTG others(43): Show TGTGTGTGCGCGTGTGCGTGCGTGCGCGTGCGTGTGTGCGCGTGTGTGCG C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0118 a0001c0001t0007g0118	1	113	0.0088	50	c.292 others(67): Show c.292-9393_292-9392insTGTGCGCGTGTGCGTGCGTGCGCGTGCG TGTGTGCGCGTGTGTGCGCGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28658947	G G	GTGTGTGT others(43): Show GTGTGTGTGTATATATATATATATATATATGTGTATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0178 a0001c0001t0009g0178	1	191	0.0052	50	c.465 others(69): Show c.465-59799_465-59798insGTATATATATATATATATATATGTGT ATATATATATATATATATGTGTGT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28658963	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATGTATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0080 a0001c0001t0025g0080	1	173	0.0058	50	c.465 others(69): Show c.465-59773_465-59772insATATATATATGTATATATATATATAT ATATATGTATATATATATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28658963	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATGTATATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA19009.hp1 HG01258.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0177 a0001c0001t0018g0108 a0001c0001t0003g0177 a0001c0001t0018g0108	2	174	0.0115	50	c.465 others(69): Show c.465-59773_465-59772insATATATATGTATATATATATATATAT ATATATGTATATATATATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREBBP_chr16_3720054_3885713	3759588	C C	CAAAAAAA others(43): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0232 a0001c0004t0006g0232	1	212	0.0047	50	c.325 others(67): Show c.3251-617_3251-616insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	16/30			chr16	TogoVar
CRKL_chr22_20912407_20958747	20916630	A A	AAGAAAAG others(43): Show AAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0001t0007g0060 a0001c0001t0007g0061	2	341	0.0059	50	c.-13 others(61): Show c.-1305_-1304insAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAAAG	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		776		chr22	TogoVar
CROCC2_chr2_240901336_240998311	240923836	C C	CCCCCACA others(43): Show CCCCCACACTAACCCAGCCCCCACACTGACCCAGTCCCCACACTAACCCG G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0337 a0002c0011t0002g0337	1	305	0.0033	50	c.488 others(67): Show c.488+1195_488+1196insACACTAACCCAGCCCCCACACTGACCCA GTCCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923836	C C	CCCCCACA others(43): Show CCCCCACACTGACCCAGCCCCCACACTGACCCAGTCCCCACACTAACCCG G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0040 a0040	a0040c0065 a0040c0065	a0040c0065t0002 a0040c0065t0002	a0040c0065t0002g0253 a0040c0065t0002g0253	1	305	0.0033	50	c.488 others(67): Show c.488+1195_488+1196insACACTGACCCAGCCCCCACACTGACCCA GTCCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924307	C C	CCCCCACA others(43): Show CCCCCACACTGACCCAGCCCCCACACTAACCCTAACCCCACACTAACCCG G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0257 a0002c0012t0002g0257	1	265	0.0038	50	c.489 others(67): Show c.489-1413_489-1412insACACTGACCCAGCCCCCACACTAACCCT AACCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924347	A A	ACACTAAC others(43): Show ACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCC C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0183 a0006c0006t0003g0183	1	171	0.0058	50	c.489 others(67): Show c.489-1377_489-1376insCACTAACCCGGCCCCCACACTGACCCGG CCCCCACACTGACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924554	A A	ACACTAAC others(43): Show ACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCC C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0213 a0011c0019t0001g0213	1	216	0.0046	50	c.489 others(67): Show c.489-1170_489-1169insCACTAACCCGGCCCCCACACTAACCCAG CCCCCACACTAACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAGATATA T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0243 a0002c0002t0004g0243	1	10	0.1000	50	c.684 others(69): Show c.684+33309_684+33310insATATATCTATATATATATATATATAT ATATATATATTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCTCCCA others(43): Show CCCTCCCACCCTCCCCTCCCTCCCCTCCCTCCCTCCCTCCTTTCTTTCTT T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	303	0.0033	50	c.301 others(65): Show c.301-928_301-927insCTCCCACCCTCCCCTCCCTCCCCTCCCTCC CTCCCTCCTTTCTTTCTTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106361971	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp1 NA18939.hp2 HG03471.hp1 HG03579.hp1 NA18939.hp2	a0001 a0050 a0056 a0001 a0050 a0056	a0001c0001 a0050c0028 a0056c0074 a0001c0001 a0050c0028 a0056c0074	a0001c0001t0005 a0050c0028t0002 a0056c0074t0002 a0001c0001t0005 a0050c0028t0002 a0056c0074t0002	a0001c0001t0005g0090 a0050c0028t0002g0089 a0056c0074t0002g0235 a0001c0001t0005g0090 a0050c0028t0002g0089 a0056c0074t0002g0235	3	258	0.0116	50	c.173 others(65): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106433731	A A	ATATATGT others(43): Show ATATATGTATATATATATATGTATATATATATATACGTATATATATATAT G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0004 a0023c0027t0004	a0023c0027t0004g0008 a0023c0027t0004g0008	1	259	0.0039	50	c.174 others(69): Show c.174-17959_174-17958insTGTATATATATATATGTATATATATA TATACGTATATATATATATGTATA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSF1R_chr5_150048295_150091554	150084388	A A	AAAGAAAG others(43): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	400	0.0025	50	c.49+ others(65): Show c.49+1990_49+1991insCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSH1_chr17_63889918_63901574	63898148	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	279	0.0036	50	c.-16 others(61): Show c.-1638_-1637insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1575		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898152	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	290	0.0034	50	c.-16 others(61): Show c.-1642_-1641insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1579		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898156	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 NA19078.hp2 HG00673.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	299	0.0067	50	c.-16 others(61): Show c.-1646_-1645insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1583		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898160	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp2 NA18949.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	295	0.0068	50	c.-16 others(61): Show c.-1650_-1649insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1587		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898164	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0004 a0004c0004t0001g0004	1	291	0.0034	50	c.-16 others(61): Show c.-1654_-1653insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1591		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3354891	C C	CTATCTAT others(43): Show CTATCTATAGATCTATCTATAGATATGTCTATCTATAGATATAGATATTT A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02258.hp2 others(2): Show HG01884.hp1 HG02055.hp2 HG02258.hp2 HG03098.hp2 NA19240.hp2	a0001 a0004 a0027 a0001 a0004 a0027	a0001c0045 a0001c0046 a0001c0115 others(2): Show a0001c0045 a0001c0046 a0001c0115 a0004c0057 a0027c0110	a0001c0045t0014 a0001c0046t0073 a0001c0115t0042 others(2): Show a0001c0045t0014 a0001c0046t0073 a0001c0115t0042 a0004c0057t0080 a0027c0110t0074	a0001c0045t0014g0010 a0001c0046t0073g0091 a0001c0115t0042g0055 others(2): Show a0001c0045t0014g0010 a0001c0046t0073g0091 a0001c0115t0042g0055 a0004c0057t0080g0075 a0027c0110t0074g0082	5	38	0.1316	50	c.330 others(69): Show c.3304+4260_3304+4261insTAAATATCTATATCTATAGATAGACA TATCTATAGATAGATCTATAGATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	21/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411966	G G	GTATACGT others(43): Show GTATACGTGTATATACACGTATATATGTATACGTGTATATACACGTATAT A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0080 a0001c0080	a0001c0080t0041 a0001c0080t0041	a0001c0080t0041g0025 a0001c0080t0041g0025	1	104	0.0096	50	c.156 others(69): Show c.1562-2362_1562-2361insTATATACGTGTATATACACGTATACA TATATACGTGTATATACACGTATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411972	A A	ATATATAC others(43): Show ATATATACACGTATATATGTATACGTGTATATACACGTGTATATATACGT G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp2 HG03017.hp2 HG02074.hp1 HG02074.hp2 HG03017.hp2	a0001 a0002 a0026 a0001 a0002 a0026	a0001c0079 a0002c0091 a0026c0100 a0001c0079 a0002c0091 a0026c0100	a0001c0079t0070 a0002c0091t0002 a0026c0100t0016 a0001c0079t0070 a0002c0091t0002 a0026c0100t0016	a0001c0079t0070g0113 a0002c0091t0002g0114 a0026c0100t0016g0121 a0001c0079t0070g0113 a0002c0091t0002g0114 a0026c0100t0016g0121	3	76	0.0395	50	c.156 others(69): Show c.1562-2368_1562-2367insCACGTATATATACACGTGTATATACA CGTATACATATATACGTGTATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542654	A A	ATACATGT others(43): Show ATACATGTATGTATATATATATATATATGTGTATATATATATATATATGT G	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0356 a0001c0001t0002g0356	1	354	0.0028	50	c.230 others(67): Show c.230+7420_230+7421insCACATATATATATATATATACACATATA TATATATATATACATACATGTA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSRNP3_chr2_165464698_165694407	165662127	G G	GAAACAAA others(43): Show GAAACAAAATAAAGATGTTATTTTGAAAACAAAATAAAGATGTTATTTTG A	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18999.hp2 HG01261.hp1 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0009 a0001c0001t0003 a0002c0003t0009	a0001c0001t0003g0014 a0002c0003t0009g0068 a0001c0001t0003g0014 a0002c0003t0009g0068	2	123	0.0163	50	c.408 others(67): Show c.408+4120_408+4169dupGATGTTATTTTGAAAACAAAATAAAGAT GTTATTTTGAAAACAAAATAAA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSTPP1_chr11_46931761_47167247	47097451	T T	TGGGGGGG others(43): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	208	0.0048	50	c.281 others(69): Show c.281-40187_281-40186insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTCGGGGGGG	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47097451	T T	TGGGGGGG others(43): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG01261.hp1 others(8): Show HG00597.hp2 HG00735.hp1 HG01261.hp1 HG01993.hp2 HG02055.hp2 HG02647.hp1 HG03209.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 NA18962.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0148 others(8): Show a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0211 a0001c0001t0002g0218 a0002c0003t0001g0115	11	218	0.0505	50	c.281 others(69): Show c.281-40187_281-40186insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGG	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CTNNA3_chr10_65907523_67701195	67550676	G G	GTAGAATA others(43): Show GTAGAATAAAGAAATTTCTTTATTCATAGAATAAAGAAATTTCTTTATTC A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG03130.hp2 HG01243.hp1 HG02145.hp2 HG03130.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0009 a0002c0002 a0003c0009	a0002c0002t0001 a0002c0002t0026 a0003c0009t0003 a0002c0002t0001 a0002c0002t0026 a0003c0009t0003	a0002c0002t0001g0035 a0002c0002t0026g0046 a0003c0009t0003g0036 a0002c0002t0001g0035 a0002c0002t0026g0046 a0003c0009t0003g0036	3	44	0.0682	50	c.293 others(69): Show c.293-11008_293-11007insTGAATAAAGAAATTTCTTTATTCTAT GAATAAAGAAATTTCTTTATTCTA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar

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