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
CPNE7_chr16_89570758_89602246	89587785	C C	CCCGTGTC others(43): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC G	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19087.hp2 HG02080.hp2 NA19087.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0168 a0003c0006t0003g0230 a0003c0006t0003g0168 a0003c0006t0003g0230	2	348	0.0058	50	c.927 others(65): Show c.927+684_927+685insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587951	C C	CCCGTGTC others(43): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC G	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0144 a0003c0006t0003g0144	1	348	0.0029	50	c.928 others(65): Show c.928-723_928-722insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587951	C C	CCGTGTCA others(43): Show CCGTGTCACCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	348	0.0029	50	c.928 others(65): Show c.928-719_928-718insCACCCCCCGTGTCACCCACAGATACACGGC CCCCCGTGTCACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
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	a0001c0001t0001g0260 a0001c0001t0001g0260	1	422	0.0024	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 a0002c0002t0001g0015 a0002c0002t0001g0016 others(5): Show a0002c0002t0001g0001 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0074 a0002c0002t0001g0091 a0002c0002t0001g0096 a0003c0005t0001g0075	16	422	0.0379	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	a0002c0002t0001g0058 a0002c0002t0001g0082 a0002c0002t0001g0058 a0002c0002t0001g0082	2	422	0.0047	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	a0001c0001t0001g0252 a0001c0001t0001g0252	1	422	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	290	0.0035	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	290	0.0035	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	290	0.0035	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	a0002c0009t0006g0072 a0002c0009t0006g0072	1	340	0.0029	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	388	0.0052	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	a0001c0001t0002g0034 a0001c0001t0002g0034	1	364	0.0028	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	a0001c0001t0003g0088 a0001c0001t0003g0088	1	350	0.0029	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	a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 others(4): Show a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171	7	350	0.0200	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	a0001c0001t0001g0262 a0002c0003t0001g0245 a0002c0003t0001g0267 a0001c0001t0001g0262 a0002c0003t0001g0245 a0002c0003t0001g0267	3	350	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(11): 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 homoSapiens_chm13v2.hp1	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(11): Show a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0235 a0001c0001t0010g0039 a0001c0002t0002g0045 a0001c0002t0002g0052 a0001c0003t0002g0050 a0001c0004t0001g0044 a0001c0004t0001g0047 a0001c0005t0001g0038 a0001c0010t0002g0048 a0001c0027t0001g0046	14	288	0.0486	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	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0061 a0007c0008t0003g0061	1	360	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	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0070 a0003c0002t0002g0070	1	250	0.0040	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	250	0.0040	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	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0167 others(2): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0167 a0001c0001t0001g0219 a0001c0001t0001g0263	5	320	0.0156	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	448	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	a0001c0001t0003g0010 a0001c0001t0003g0010	1	198	0.0051	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	198	0.0051	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	198	0.0051	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	198	0.0051	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	198	0.0051	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	198	0.0101	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	286	0.0035	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	a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0001t0007g0058 a0001c0001t0007g0059	2	370	0.0054	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	a0002c0011t0002g0334 a0002c0011t0002g0334	1	350	0.0029	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	a0042 a0042	a0042c0065 a0042c0065	a0042c0065t0002 a0042c0065t0002	a0042c0065t0002g0339 a0042c0065t0002g0339	1	350	0.0029	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	a0002c0012t0002g0250 a0002c0012t0002g0250	1	350	0.0029	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	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0003 a0007c0006t0003	a0007c0006t0003g0097 a0007c0006t0003g0097	1	350	0.0029	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	a0021 a0021	a0021c0019 a0021c0019	a0021c0019t0001 a0021c0019t0001	a0021c0019t0001g0220 a0021c0019t0001g0220	1	350	0.0029	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	a0002c0002t0004g0244 a0002c0002t0004g0244	1	290	0.0035	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	a0001c0001t0001g0270 a0001c0001t0001g0270	1	402	0.0025	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 a0059 a0062 a0001 a0059 a0062	a0001c0001 a0059c0028 a0062c0074 a0001c0001 a0059c0028 a0062c0074	a0001c0001t0005 a0059c0028t0002 a0062c0074t0002 a0001c0001t0005 a0059c0028t0002 a0062c0074t0002	a0001c0001t0005g0092 a0059c0028t0002g0091 a0062c0074t0002g0236 a0001c0001t0005g0092 a0059c0028t0002g0091 a0062c0074t0002g0236	3	272	0.0110	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	a0024 a0024	a0024c0027 a0024c0027	a0024c0027t0004 a0024c0027t0004	a0024c0027t0004g0008 a0024c0027t0004g0008	1	272	0.0037	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	a0001c0001t0002g0195 a0001c0001t0002g0195	1	406	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	428	0.0023	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	428	0.0023	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	428	0.0047	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	428	0.0047	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	428	0.0023	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 a0003 a0011 a0001 a0003 a0011	a0001c0045 a0001c0046 a0001c0115 others(2): Show a0001c0045 a0001c0046 a0001c0115 a0003c0057 a0011c0110	a0001c0045t0012 a0001c0046t0073 a0001c0115t0042 others(2): Show a0001c0045t0012 a0001c0046t0073 a0001c0115t0042 a0003c0057t0080 a0011c0110t0074	a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0115t0042g0055 others(2): Show a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0115t0042g0055 a0003c0057t0080g0075 a0011c0110t0074g0082	5	126	0.0397	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	a0001c0080t0040 a0001c0080t0040	a0001c0080t0040g0025 a0001c0080t0040g0025	1	126	0.0079	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 a0036 a0001 a0002 a0036	a0001c0079 a0002c0091 a0036c0100 a0001c0079 a0002c0091 a0036c0100	a0001c0079t0072 a0002c0091t0002 a0036c0100t0017 a0001c0079t0072 a0002c0091t0002 a0036c0100t0017	a0001c0079t0072g0113 a0002c0091t0002g0114 a0036c0100t0017g0121 a0001c0079t0072g0113 a0002c0091t0002g0114 a0036c0100t0017g0121	3	126	0.0238	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	a0001c0001t0002g0354 a0001c0001t0002g0354	1	390	0.0026	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	a0001c0001t0065 a0002c0003t0010 a0001c0001t0065 a0002c0003t0010	a0001c0001t0065g0013 a0002c0003t0010g0067 a0001c0001t0065g0013 a0002c0003t0010g0067	2	246	0.0081	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

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