Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CPNE5_chr6_36735775_36844444	36769452	T T	TAGCTCTA others(29): Show TAGCTCTATCTATAGTTTCCTCCCAGCTGAGCTGCAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	380	0.0026	36	c.738 others(53): Show c.738-4112_738-4077dupTTGCAGCTCAGCTGGGAGGAAACTATAG ATAGAGCT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	10/20			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89587808	C C	CCCCCGTG others(29): Show CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	348	0.0029	36	c.927 others(51): Show c.927+710_927+711insGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587872	C C	CCCCCGTG others(29): Show CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	348	0.0029	36	c.927 others(51): Show c.927+774_927+775insGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587947	C C	CCCCCGTG others(29): Show CCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0197 a0001c0002t0005g0197	1	348	0.0029	36	c.928 others(51): Show c.928-724_928-723insGTGTCACCCGCGTGTCACCCACAGAAACAC GGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588069	C C	CGTGTCAC others(29): Show CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03704.hp1 HG02735.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0054 a0001c0002t0004g0134 a0001c0001t0001g0054 a0001c0002t0004g0134	2	348	0.0058	36	c.928 others(51): Show c.928-606_928-605insGTGTCACCCACAGATACACGGCCCCCGTGT CACCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(29): Show GTATATATATGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0056 a0001c0002t0004g0056	1	342	0.0029	36	c.915 others(53): Show c.915-1906_915-1905insTATATATATATATATATATATATACACA TATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(29): Show GTATATATATGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	342	0.0029	36	c.915 others(53): Show c.915-1906_915-1905insTATATATATATATATATATATACACACA TATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760435	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	342	0.0029	36	c.722 others(51): Show c.722+411_722+412insTATATATATATATATATATATATATATATA TATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(29): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0090 a0004c0004t0007g0090	1	290	0.0035	36	c.289 others(55): Show c.289+14928_289+14929insCTCTCTCTCTCTCTCTCTATATATAT ATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(29): Show TATATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03209.hp2 HG03195.hp2 HG03209.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0012 a0004c0004t0042 a0003c0003t0012 a0004c0004t0042	a0003c0003t0012g0153 a0004c0004t0042g0088 a0003c0003t0012g0153 a0004c0004t0042g0088	2	290	0.0069	36	c.289 others(55): Show c.289+14928_289+14929insCTCTCTCTCTCTCTATATATATATAT ATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPQ_chr8_96640242_97148501	96737355	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	126	0.0079	36	c.-34 others(55): Show c.-34-47495_-34-47494insATATATATATATATATATATATATAT ATATATATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926570	C C	CTCTTCTT others(29): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTATTCTTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0116 a0001c0008t0001g0116	1	126	0.0079	36	c.850 others(55): Show c.850-39360_850-39359insTTCTTCTTCTTCTTCTTCTTCTTATT CTTCTTCTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCCT others(29): Show CTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	126	0.0079	36	c.850 others(55): Show c.850-39354_850-39353insCTCTTCCTCTTCTTCTTCTTCTTCTT CTTCTTCTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCTT others(29): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18989.hp1 HG03453.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0013 a0001c0001t0004g0083 a0001c0001t0002g0013 a0001c0001t0004g0083	2	126	0.0159	36	c.850 others(55): Show c.850-39346_850-39311dupTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPS1_chr2_210551599_210684107	210597823	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0007 a0002c0009t0007	a0002c0009t0007g0069 a0002c0009t0007g0069	1	340	0.0029	36	c.136 others(55): Show c.1360-1540_1360-1539insTATATATATATATATATATATATATA TATATATATA	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF2_chr14_92116969_92177145	92173343	A A	ATATACAC others(29): Show ATATACACGTATATATATATGTATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02258.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0034 a0001c0001t0040g0034	2	388	0.0052	36	c.11 others(49): Show c.11599_*11600insTATACACGTATATATATATGTATATATATATA TACG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1199		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173344	T T	TACACACA others(29): Show TACACACACGTATATATATATGTATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	388	0.0026	36	c.11 others(49): Show c.11600_*11601insACACACACGTATATATATATGTATATATATAT ATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1200		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173344	T T	TATACACA others(29): Show TATACACACGTATATATATATGTATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00609.hp2 others(11): Show HG00423.hp1 HG00544.hp2 HG00609.hp2 HG04204.hp1 NA18946.hp2 NA18957.hp1 NA18966.hp1 NA18969.hp1 NA18997.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0023 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0023 a0001c0001t0039 a0001c0001t0076 a0001c0001t0077 a0001c0001t0091	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0146 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0146 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0008g0036 a0001c0001t0008g0155 a0001c0001t0008g0159 a0001c0001t0023g0035 a0001c0001t0039g0003 a0001c0001t0076g0166 a0001c0001t0077g0156 a0001c0001t0091g0012	14	388	0.0361	36	c.11 others(49): Show c.11600_*11601insATACACACGTATATATATATGTATATATATAT ATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1200		chr14	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02622.hp2 HG02109.hp1 HG02280.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081	3	364	0.0082	36	c.103 others(53): Show c.103+1490_103+1491insATATATATATATATATATATATATGTTT TTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPT1C_chr19_49686116_49718731	49703587	C C	CCTTCCCT others(29): Show CCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp1 HG01192.hp1 HG01496.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0002 a0002c0005t0002 a0001c0002t0002 a0002c0005t0002	a0001c0002t0002g0197 a0002c0005t0002g0200 a0001c0002t0002g0197 a0002c0005t0002g0200	2	350	0.0057	36	c.694 others(53): Show c.694-1122_694-1121insTTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPXM2_chr10_123740639_123896807	123857653	T T	TGGAAGGC others(29): Show TGGAAGGCGGCGTGGAGACGGAAGGCGGCGTGGAGAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	288	0.0035	36	c.513 others(53): Show c.513+4960_513+4961insGTCTCCACGCCGCCTTCCGTCTCCACGC CGCCTTCC	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	3/13			chr10	TogoVar
CPXM2_chr10_123740639_123896807	123857653	T T	TGGAAGGC others(29): Show TGGAAGGCGGCGTGGAGATGGAAGGCGGCGTGGAGAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0247 a0001c0010t0001g0247	1	288	0.0035	36	c.513 others(53): Show c.513+4960_513+4961insGTCTCCACGCCGCCTTCCATCTCCACGC CGCCTTCC	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	3/13			chr10	TogoVar
CPZ_chr4_8587765_8624752	8605634	T T	TATCCATC others(29): Show TATCCATCCATCCATCCATCCATCCATCCATCCACCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0307 a0001c0007t0002g0307	1	442	0.0023	36	c.710 others(51): Show c.710-349_710-348insCCATCCATCCATCCATCCATCCATCCACCC ATCCAT	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8609059	A A	ACTCCCTC others(29): Show ACTCCCTCACTCACCCATTCACTCACGTACTCACTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(80): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01516.hp2 HG01943.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02738.hp1 HG02886.hp2 HG02965.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18951.hp1 NA18955.hp2 NA18962.hp1 NA18966.hp2 NA18969.hp2 NA18972.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18991.hp1 NA18998.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19076.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0008 a0016 a0017	a0001c0001 a0001c0006 a0001c0007 others(15): Show a0001c0001 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0026 a0001c0052 a0001c0053 a0002c0065 a0003c0003 a0003c0008 a0003c0060 a0003c0061 a0005c0016 a0007c0054 a0008c0020 a0016c0063 a0017c0062	a0001c0001t0001 a0001c0006t0001 a0001c0006t0002 others(18): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0002 a0001c0007t0003 a0001c0010t0002 a0001c0010t0006 a0001c0011t0003 a0001c0026t0002 a0001c0052t0002 a0001c0053t0002 a0002c0065t0003 a0003c0003t0003 a0003c0008t0002 a0003c0060t0005 a0003c0061t0003 a0005c0016t0002 a0005c0016t0006 a0007c0054t0002 a0008c0020t0002 a0016c0063t0003 a0017c0062t0002	a0001c0001t0001g0199 a0001c0006t0001g0168 a0001c0006t0002g0003 others(63): Show a0001c0001t0001g0199 a0001c0006t0001g0168 a0001c0006t0002g0003 a0001c0006t0002g0066 a0001c0006t0002g0067 a0001c0006t0002g0174 a0001c0006t0002g0286 a0001c0006t0002g0306 a0001c0007t0003g0041 a0001c0007t0003g0134 a0001c0007t0003g0198 a0001c0007t0003g0233 a0001c0007t0003g0234 a0001c0007t0003g0235 a0001c0007t0003g0236 a0001c0010t0002g0054 a0001c0010t0002g0192 a0001c0010t0002g0194 a0001c0010t0002g0195 a0001c0010t0002g0304 a0001c0010t0006g0161 a0001c0011t0003g0011 a0001c0011t0003g0036 a0001c0011t0003g0144 a0001c0011t0003g0279 a0001c0026t0002g0193 a0001c0026t0002g0196 a0001c0052t0002g0003 a0001c0053t0002g0129 a0002c0065t0003g0266 a0003c0003t0003g0011 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0075 a0003c0003t0003g0076 a0003c0003t0003g0077 a0003c0003t0003g0083 a0003c0003t0003g0084 a0003c0003t0003g0085 a0003c0003t0003g0086 a0003c0003t0003g0087 a0003c0003t0003g0088 a0003c0003t0003g0090 a0003c0003t0003g0096 a0003c0003t0003g0098 a0003c0003t0003g0099 a0003c0003t0003g0100 a0003c0003t0003g0102 a0003c0008t0002g0028 a0003c0008t0002g0080 a0003c0008t0002g0082 a0003c0008t0002g0093 a0003c0008t0002g0094 a0003c0008t0002g0095 a0003c0008t0002g0101 a0003c0060t0005g0089 a0003c0061t0003g0029 a0005c0016t0002g0272 a0005c0016t0006g0064 a0007c0054t0002g0003 a0008c0020t0002g0027 a0008c0020t0002g0081 a0016c0063t0003g0275 a0017c0062t0002g0276	83	442	0.1878	36	c.122 others(55): Show c.1227+1648_1227+1649insCATTCACTCACGTACTCACTCCCTCC CTCACTCACC	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CR1L_chr1_207640133_207728703	207682960	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0023 a0023	a0023c0033 a0023c0033	a0023c0033t0001 a0023c0033t0001	a0023c0033t0001g0269 a0023c0033t0001g0269	1	346	0.0029	36	c.378 others(51): Show c.378-881_378-880insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0333 a0005c0005t0002g0333	1	360	0.0028	36	c.689 others(53): Show c.6890-563_6890-562insATATATATATATATATATATATATATAT ATGTGTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207458073	C C	CACACACA others(29): Show CACACACACACACACACATACACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0001 a0011c0025t0001	a0011c0025t0001g0067 a0011c0025t0001g0067	1	378	0.0027	36	c.58+ others(51): Show c.58+3614_58+3615insTACACACACACACACACATACACACACACA CACACA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207458073	C C	CACACACA others(29): Show CACACACACACACACATACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0266 a0001c0003t0001g0266	1	378	0.0027	36	c.58+ others(51): Show c.58+3612_58+3613insTACACACACACACACACACATACACACACA CACACA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACDL_chr2_98788846_98941225	98795077	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0006 a0003c0003t0002g0006	1	316	0.0032	36	c.275 others(53): Show c.2750-407_2750-406insAAAAAAAAAAAAAATATATATATATATA TATATATA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9			chr2	TogoVar
CRACD_chr4_56044098_56335609	56214681	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0009 a0009	a0009c0032 a0009c0032	a0009c0032t0006 a0009c0032t0006	a0009c0032t0006g0174 a0009c0032t0006g0174	1	250	0.0040	36	c.-18 others(57): Show c.-189+35252_-189+35253insCTCTCTCTCTCTCTCTCTATATAT ATATATATATAT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56214681	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0049 a0003c0002t0002g0049	1	250	0.0040	36	c.-18 others(57): Show c.-189+35252_-189+35253insCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATAT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3639457	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18994.hp1 HG00597.hp2 NA18994.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0001 a0016c0015t0001	a0016c0015t0001g0214 a0016c0015t0001g0292 a0016c0015t0001g0214 a0016c0015t0001g0292	2	320	0.0063	36	c.127 others(55): Show c.1272-1004_1272-1003insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	13/19			chr12	TogoVar
CRACR2B_chr11_822919_836986	833070	G G	GGCGAGGG others(29): Show GGCGAGGGGGGCGAGGGGCGCGAGGGGGGCGAGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(230): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0008 a0009 a0014	a0001c0001 a0001c0014 a0001c0015 others(5): Show a0001c0001 a0001c0014 a0001c0015 a0003c0003 a0004c0006 a0008c0007 a0009c0016 a0014c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0014t0001 a0001c0015t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0010 a0003c0003t0014 a0004c0006t0001 a0004c0006t0003 a0008c0007t0001 a0008c0007t0002 a0009c0016t0016 a0014c0009t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0017 others(34): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0002g0001 a0001c0001t0002g0024 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0007g0001 a0001c0001t0007g0007 a0001c0001t0008g0001 a0001c0001t0008g0015 a0001c0001t0008g0023 a0001c0001t0010g0001 a0001c0001t0012g0001 a0001c0001t0013g0001 a0001c0001t0014g0001 a0001c0001t0016g0001 a0001c0001t0020g0001 a0001c0014t0001g0001 a0001c0015t0001g0001 a0003c0003t0001g0001 a0003c0003t0001g0003 a0003c0003t0002g0003 a0003c0003t0003g0001 a0003c0003t0003g0003 a0003c0003t0004g0001 a0003c0003t0004g0003 a0003c0003t0010g0003 a0003c0003t0014g0003 a0004c0006t0001g0001 a0004c0006t0003g0001 a0008c0007t0001g0011 a0008c0007t0002g0011 a0009c0016t0016g0001 a0014c0009t0002g0001	233	448	0.5201	36	c.13 others(47): Show c.1361_*1362insGCGAGGGGGGCGAGGGGCGCGAGGGGGGCGAGGG GC	CRACR2B	ENSG00000177685.17	transcript	ENST00000525077.2	protein_coding		1085		chr11	TogoVar
CRACR2B_chr11_822919_836986	833094	G G	GGGGGCGA others(29): Show GGGGGCGAGGGGCGCGAGGGGGGCGAGGGGCGCGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18968.hp2 NA18980.hp2 others(4): Show NA18963.hp2 NA18968.hp2 NA18980.hp2 NA18983.hp2 NA19003.hp1 NA19003.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001	7	448	0.0156	36	c.13 others(47): Show c.1385_*1386insGGGGCGAGGGGCGCGAGGGGGGCGAGGGGCGCGA GT	CRACR2B	ENSG00000177685.17	transcript	ENST00000525077.2	protein_coding		1109		chr11	TogoVar
CRB1_chr1_197263252_197483455	197319259	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0079 a0001c0004t0001g0079	1	186	0.0054	36	c.71- others(51): Show c.71-9144_71-9143insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CREB3L2_chr7_137869979_138007086	137899096	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	288	0.0035	36	c.104 others(55): Show c.1043+2222_1043+2257dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	8/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137899107	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0279 a0001c0001t0020g0279	1	288	0.0035	36	c.104 others(55): Show c.1043+2246_1043+2247insCTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	8/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137922414	A A	ATATATAT others(29): Show ATATATATATATGTATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0026 a0001c0001t0055g0026	1	288	0.0035	36	c.319 others(53): Show c.319+5735_319+5736insCATATATATATATATATATATATACATA TATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB3L3_chr19_4148631_4178054	4163351	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02083.hp1 HG02129.hp1 others(8): Show HG01255.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02523.hp1 HG03209.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA19070.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0172 a0001c0001t0001g0262 a0001c0001t0001g0279 others(7): Show a0001c0001t0001g0172 a0001c0001t0001g0262 a0001c0001t0001g0279 a0001c0001t0002g0016 a0001c0001t0002g0273 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0002t0003g0037	11	404	0.0272	36	c.577 others(53): Show c.577-1149_577-1148insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAGGAA	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CREB3L3_chr19_4148631_4178054	4163351	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	404	0.0025	36	c.577 others(53): Show c.577-1149_577-1148insAGAAAGAAAGAAAGAAAGAAAGAAAGAA GGAAGGAA	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CREB5_chr7_28407518_28830894	28486670	T T	TTAAATAT others(29): Show TTAAATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA18945.hp1 HG02897.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0028 a0001c0001t0007 a0001c0001t0028	a0001c0001t0007g0192 a0001c0001t0028g0037 a0001c0001t0007g0192 a0001c0001t0028g0037	2	198	0.0101	36	c.4-1 others(49): Show c.4-1503_4-1502insAATATATATATATATATATATATATATATATA TATA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28486670	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01123.hp2 others(12): Show HG00738.hp2 HG01069.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG02055.hp2 HG02258.hp1 HG02300.hp1 HG02647.hp1 HG03516.hp2 HG03688.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0042 a0001c0001t0049 a0001c0003t0031	a0001c0001t0001g0015 a0001c0001t0002g0129 a0001c0001t0002g0166 others(12): Show a0001c0001t0001g0015 a0001c0001t0002g0129 a0001c0001t0002g0166 a0001c0001t0003g0029 a0001c0001t0003g0056 a0001c0001t0003g0065 a0001c0001t0004g0020 a0001c0001t0004g0082 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0172 a0001c0001t0015g0167 a0001c0001t0042g0134 a0001c0001t0049g0076 a0001c0003t0031g0160	15	198	0.0758	36	c.4-1 others(49): Show c.4-1482_4-1481insATATATATATATATATATATATATATATATAT ATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560959	T T	TGTGTGCG others(29): Show TGTGTGCGCGTGTGCGTGCGTGCGCGTGCGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	198	0.0051	36	c.292 others(53): Show c.292-9405_292-9404insTGTGCGCGTGTGCGTGCGTGCGCGTGCG TGTGTGCG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28561025	C C	CGTGTGTG others(29): Show CGTGTGTGCGTGCGTGTGTGTGCGTGCGTGTGCGTGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18971.hp1 HG02004.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0018 a0001c0001t0007 a0001c0001t0018	a0001c0001t0007g0012 a0001c0001t0018g0184 a0001c0001t0007g0012 a0001c0001t0018g0184	2	198	0.0101	36	c.292 others(53): Show c.292-9333_292-9332insCGTGCGTGTGTGTGCGTGCGTGTGCGTG TGTGTGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28712524	T T	TTTATTAT others(29): Show TTTATTATTATTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0071 a0001c0001t0008g0071	1	198	0.0051	36	c.465 others(53): Show c.465-6206_465-6205insATTATTATTATTATTATTATTATTATTA TTATTATT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREBBP_chr16_3720054_3885713	3849378	C C	CGTGTGTG others(29): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0261 a0001c0002t0012g0261	1	286	0.0035	36	c.798 others(51): Show c.798+883_798+918dupACACACACACACACACACACACACACACAC ACACAC	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBRF_chr5_173051352_173144284	173117579	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00639.hp2 others(14): Show HG00099.hp2 HG00323.hp2 HG00639.hp2 HG01069.hp2 HG01070.hp1 HG01123.hp2 HG01256.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG02486.hp1 HG02559.hp2 HG03017.hp2 HG03130.hp1 HG03540.hp2 HG03927.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026	a0001c0001t0002g0220 a0001c0001t0002g0236 a0001c0001t0002g0238 others(14): Show a0001c0001t0002g0220 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0010g0253 a0001c0001t0010g0255 a0001c0001t0010g0285 a0001c0001t0013g0261 a0001c0001t0022g0281 a0001c0001t0023g0266 a0001c0001t0026g0260	17	292	0.0582	36	c.168 others(55): Show c.1681+5203_1681+5204insCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCC	CREBRF	ENSG00000164463.12	transcript	ENST00000296953.6	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CREBRF_chr5_173051352_173144284	173117579	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp2 HG01070.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0193 a0001c0001t0004g0196 a0001c0001t0004g0193 a0001c0001t0004g0196	2	292	0.0069	36	c.168 others(55): Show c.1681+5203_1681+5204insCTCCCTCCCTCCTTCCTTCCTTCCTT CCTTCCTTCC	CREBRF	ENSG00000164463.12	transcript	ENST00000296953.6	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CRIP2_chr14_105469821_105485162	105482733	G G	GCTCCCAC others(29): Show GCTCCCACAGCCCGCCCCCCTGCCCGCCCCCACGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	316	0.0032	36	c.30 others(47): Show c.3080_*3081insCTCCCACAGCCCGCCCCCCTGCCCGCCCCCACGT GC	CRIP2	ENSG00000182809.11	transcript	ENST00000329146.9	protein_coding		2572		chr14	TogoVar
CRLF2_chrX_1185490_1217649	1213043	C C	CCCCTCTC others(29): Show CCCCTCTCCCCTCCCCTTCCCCCTCTCCCCTCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03453.hp2 HG06807.hp1 HG02976.hp2 HG03453.hp2 HG06807.hp1	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0002 a0003c0014 a0015c0029 a0001c0002 a0003c0014 a0015c0029	a0001c0002t0002 a0003c0014t0001 a0015c0029t0003 a0001c0002t0002 a0003c0014t0001 a0015c0029t0003	a0001c0002t0002g0022 a0003c0014t0001g0024 a0015c0029t0003g0025 a0001c0002t0002g0022 a0003c0014t0001g0024 a0015c0029t0003g0025	3	167	0.0180	36	c.-41 others(45): Show c.-410_-409insAAGGGGAGGGGAGAGGGGGAAGGGGAGGGGAGAGGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding		395		chrX	TogoVar

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