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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
UNKL_chr16_1358205_1419704	1397512	CCCCCACC others(166): Show CCCCCACCCCGACCCCCGTGCTTCACGCTGGGGCAGGGCATGGACCTGGG GATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCACCCCGAC CCCCGTGCTTCACGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGT CAGGGGGACACAGAGGACTTGGCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0059 a0001c0003t0059	a0001c0003t0059g0297 a0001c0003t0059g0297	1	322	0.0031	-173	c.735 others(15): Show c.735-390_735-218del	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14			chr16	TogoVar
VCX2_chrX_8164944_8176267	8169703	CCCACACA others(166): Show CCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACC ACCTCTTCCTCCCTCCCTCCCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0013 a0009c0010t0002g0013	1	115	0.0087	-173	c.15 others(9): Show c.156_*328del	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		240		chrX	TogoVar
ZNF888_chr19_52899415_52928428	52918958	ATCTCCCT others(166): Show ATCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0123 a0002c0003t0011g0123	1	426	0.0024	-173	c.-17 others(16): Show c.-177-194_-177-22del	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4			chr19	TogoVar
ABCC2_chr10_99777640_99857594	99838564	CCCATCTC others(165): Show CCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCAC GGCTGGCCGGGCGGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0001 a0019c0023t0001	a0019c0023t0001g0219 a0019c0023t0001g0219	1	336	0.0030	-172	c.361 others(19): Show c.3614+2277_3614+2448del	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABR_chr17_998519_1184981	1065008	ACTGCTGT others(165): Show ACTGCTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTG TTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGCTGTTACGTG AACTGAGGGCTATGCATGTTCCTCTAGACGCTGCTGTTACGTGAACTGAG GGCTATGCATGTTCCTCTAGACG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03453.hp2 HG01192.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0085 a0001c0002t0001 a0001c0002t0085	a0001c0002t0001g0110 a0001c0002t0085g0328 a0001c0002t0001g0110 a0001c0002t0085g0328	2	337	0.0059	-172	c.118 others(19): Show c.1182+1897_1182+2068del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289024	CCTGCTCC others(165): Show CCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCCCGTGTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	295	0.0034	-172	c.43 others(11): Show c.4368_*4539del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3366		chr1	TogoVar
AFDN_chr6_167821911_167977023	167940347	ACCATCCA others(165): Show ACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGA GGGTGGAAGCCATCCACAGGAGACGTGTGGACAGACACAGAGGGATGTAG GGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAG GGATGTAGGGGTGAGGGTGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0001 a0007c0021t0001	a0007c0021t0001g0203 a0007c0021t0001g0203	1	326	0.0031	-172	c.310 others(19): Show c.3100-2724_3100-2553del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
AFDN_chr6_167821911_167977023	167940937	GTGTGGAC others(165): Show GTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACA GGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAAC CATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGG GTGGAAACCATCCACAGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG00741.hp1 others(23): Show HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01433.hp2 HG01496.hp2 HG02027.hp2 HG02735.hp2 HG02738.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG04199.hp1 HG04204.hp2 NA18939.hp1 NA18964.hp2 NA19010.hp2 NA19066.hp1 NA20129.hp1 NA20752.hp1	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0002 a0004c0011 a0015c0033 a0001c0002 a0004c0011 a0015c0033	a0001c0002t0001 a0001c0002t0012 a0004c0011t0001 others(1): Show a0001c0002t0001 a0001c0002t0012 a0004c0011t0001 a0015c0033t0001	a0001c0002t0001g0006 a0001c0002t0001g0103 a0001c0002t0001g0114 others(23): Show a0001c0002t0001g0006 a0001c0002t0001g0103 a0001c0002t0001g0114 a0001c0002t0001g0129 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0193 a0001c0002t0001g0204 a0001c0002t0001g0212 a0001c0002t0012g0139 a0004c0011t0001g0125 a0004c0011t0001g0127 a0004c0011t0001g0128 a0015c0033t0001g0030	26	326	0.0798	-172	c.310 others(19): Show c.3100-1934_3100-1763del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANGPT2_chr8_6494632_6568245	6505341	TATATATA others(165): Show TATATATATTCTTTCTATATGTATATAGAATATATATATTCTTTCTATAT GTATATAGAATATATATATTCTTTATATACATAAAGAATATATATATTCT TTATATACATATAGAATATATATATTCTTTACATATATAGAATATATATA TTCTTTATATATGTATATATAGA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0075 a0001c0003t0075	a0001c0003t0075g0326 a0001c0003t0075g0326	1	336	0.0030	-172	c.132 others(19): Show c.1328-2252_1328-2081del	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888163	CGAGGAGA others(165): Show CGAGGAGACAGTGAGTGGGGTGAGGGTTTGCGAGGAGACACTTAGTGGGG CGAGGGTTGCGAGGAGACAGTGAGTGTGGTGAGGGTTGCGAGGAGATGCT GAGTGGGGCTGTAGGTTCTGAGGAGGGGTGGGGTGAGGGTTTGTGAGGAT ATGCTGAGTGGGATGTTGACTGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp1 HG02723.hp1 others(4): Show HG00544.hp2 HG01123.hp1 HG02723.hp1 HG03017.hp1 NA19065.hp1 NA19081.hp2 NA19086.hp2	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0002 a0001c0020 a0001c0037 others(3): Show a0001c0002 a0001c0020 a0001c0037 a0001c0131 a0002c0024 a0019c0109	a0001c0002t0001 a0001c0020t0015 a0001c0037t0005 others(4): Show a0001c0002t0001 a0001c0020t0015 a0001c0037t0005 a0001c0037t0008 a0001c0131t0005 a0002c0024t0053 a0019c0109t0044	a0001c0002t0001g0274 a0001c0020t0015g0204 a0001c0037t0005g0308 others(4): Show a0001c0002t0001g0274 a0001c0020t0015g0204 a0001c0037t0005g0308 a0001c0037t0008g0309 a0001c0131t0005g0301 a0002c0024t0053g0178 a0019c0109t0044g0121	7	363	0.0193	-172	c.118 others(19): Show c.1182+2466_1182+2637del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888173	GTGAGTGG others(165): Show GTGAGTGGGGTGAGGGTTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGC GAGGAGACAGTGAGTGTGGTGAGGGTTGCGAGGAGATGCTGAGTGGGGCT GTAGGTTCTGAGGAGGGGTGGGGTGAGGGTTTGTGAGGATATGCTGAGTG GGATGTTGACTGTGAGGAGACAC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02886.hp2 HG01496.hp2 HG02886.hp2	a0001 a0001	a0001c0095 a0001c0144 a0001c0095 a0001c0144	a0001c0095t0011 a0001c0144t0062 a0001c0095t0011 a0001c0144t0062	a0001c0095t0011g0344 a0001c0144t0062g0339 a0001c0095t0011g0344 a0001c0144t0062g0339	2	363	0.0055	-172	c.118 others(19): Show c.1182+2484_1182+2655del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF7_chr13_111110310_111310732	111267305	TTGGGATG others(165): Show TTGGGATGCTGTGCAGTCTGAATGCTGCTGGAGAGGACCTGGCAGCACAG CTGCTTTCTGGGCGCCCCTTCTCCTTGCTAGACTCAAGGCAGCAACACAT GTGTGCTGGGATCGGGGCCTCTGGTTTTCACAGATGGGTGCAGAGGGAGG TTTTCCTTACTCAGAGTATTATA	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	274	0.0037	-172	c.951 others(14): Show c.951-240_951-69del	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARL5C_chr17_39151894_39171161	39160275	GTCATGCC others(165): Show GTCATGCCATTGCACTCCAGCCTGGGCAACAAAGAGCAAAACTCTGTCTC AAAAAAAAAAAAAAAGAGAGAGAGATTATTGCATTTAGGCGGAGTGCTAC CTCTTTCTCCACTAGAACAAGCCCCTGAGAGCAGGGATGCTGTCTGCTTG TGGCTTACCCACCACATCTCACC	G G	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18974.hp1 NA19059.hp1 NA18940.hp2 NA18974.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0099	3	410	0.0073	-172	c.491 others(15): Show c.491+144_491+315del	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	5/5			chr17	TogoVar
ASAP2_chr2_9201812_9410678	9406083	GTGTTTGT others(165): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0138 a0001c0004t0005g0138	1	210	0.0048	-172	c.27 others(11): Show c.2757_*2928del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		406		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406251	GTGTTTGT others(165): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0113 a0002c0001t0001g0113	1	210	0.0048	-172	c.29 others(11): Show c.2925_*3096del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		574		chr2	TogoVar
ATP11A_chr13_112685038_112892168	112755735	GGTCACGG others(165): Show GGTCACGGAAGCGGCACTCAGAGCGGCTCCCAGAACCATTTCCGGTCACG GAAGCGGCACTCAGAGCGGCTCCCAGAACCATTTCCCGTCACGGAAGCGG CACTCAGAGCGGCTCCCAGAACCATTTCCGGTCACGGAAGCGGCACTCAG AGCGGCTCCCAGAACCATTTCCC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18971.hp2 NA19007.hp1 HG02056.hp1 NA18971.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0040 a0001c0002 a0001c0040	a0001c0002t0012 a0001c0040t0001 a0001c0002t0012 a0001c0040t0001	a0001c0002t0012g0191 a0001c0002t0012g0252 a0001c0040t0001g0216 a0001c0002t0012g0191 a0001c0002t0012g0252 a0001c0040t0001g0216	3	254	0.0118	-172	c.40- others(17): Show c.40-29314_40-29143del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
C2orf16_chr2_27532386_27587722	27539712	ACCTCCCG others(165): Show ACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCGCCC CCGGACGGGGCGGCTGGCCAGGCAGAGGGGTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACCGGGCGGCTGGCCAGGC GTGGGGCTGATCCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18960.hp1 NA18978.hp1 others(3): Show NA18944.hp2 NA18960.hp1 NA18978.hp1 NA18989.hp2 NA19085.hp2 NA19090.hp2	a0001 a0024 a0001 a0024	a0001c0001 a0024c0041 a0001c0001 a0024c0041	a0001c0001t0001 a0024c0041t0001 a0001c0001t0001 a0024c0041t0001	a0001c0001t0001g0001 a0001c0001t0001g0132 a0001c0001t0001g0133 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0024c0041t0001g0134	6	326	0.0184	-172	c.144 others(17): Show c.144+2187_144+2358del	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C7orf50_chr7_992006_1143247	1070762	TACACATG others(165): Show TACACATGCACACGCACGCACACGGACACGCACGTGCACACATGCACACA CATCCACACGTGCACACATATACACACAACGCGTGCACACGGACATGCAC ACGGGTGCGCACACGTGCACATGCACACACGTGCACACACATGCACGCAC ACACACAGCACGCACAGACACGC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG02717.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0082 a0001c0001t0001g0083	2	326	0.0061	-172	c.129 others(19): Show c.129+56323_129+56494del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CABCOCO1_chr10_61657929_61771766	61680598	ACATGTAT others(165): Show ACATGTATAACATGTTATACATAACATATACATGTTATACATATATAATA TATATTATGTTATACATGTATAACATATATGTTATACATGTATAACATAT ATATGTTATACATGTATAACATATATATTATATATATAATATATATATCT CAGAATATTTAACAATTTAGTTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp1 others(59): Show HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00597.hp2 HG00639.hp2 HG01074.hp2 HG01175.hp2 HG01346.hp1 HG01361.hp1 HG01516.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp1 HG03239.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03927.hp2 HG04204.hp1 NA18522.hp1 NA18949.hp1 NA18950.hp2 NA18960.hp1 NA18969.hp1 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18997.hp1 NA19001.hp1 NA19004.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0007 a0001c0001t0001g0172 a0001c0001t0001g0312 others(57): Show a0001c0001t0001g0007 a0001c0001t0001g0172 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0320 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0212 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0003t0002g0008 a0001c0003t0002g0304 a0001c0003t0002g0310 a0001c0003t0002g0318 a0001c0003t0002g0319 a0001c0003t0002g0322 a0001c0003t0002g0323 a0001c0003t0002g0325 a0001c0003t0002g0326 a0001c0003t0002g0327 a0001c0003t0002g0328 a0001c0003t0002g0329 a0001c0003t0002g0334 a0001c0003t0002g0338 a0001c0003t0002g0340 a0001c0003t0002g0342 a0001c0003t0002g0345	62	374	0.1658	-172	c.165 others(15): Show c.165-542_165-371del	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CANT1_chr17_78986716_79014764	79004449	AGGAGAGG others(165): Show AGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGG GGGAGTTAGGGAGAGGGGGGTTAGGGAGAAGGGAGTTAGGGAGGGGAGTT AGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAGGGAGAGGAGTTAAGGAGA GGGGAGTTAGGGAGGGGAGTTAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03041.hp2 HG01123.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0239 a0001c0002t0011g0261 a0001c0002t0011g0239 a0001c0002t0011g0261	2	394	0.0051	-172	c.-14 others(19): Show c.-147+5043_-147+5214del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CASZ1_chr1_10631604_10801646	10744559	TGGGCACC others(165): Show TGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG GGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGG CACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCA CCACGAGCAGGCATGTCCTGGGC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18612.hp2 NA19005.hp2 others(2): Show HG03098.hp1 NA18612.hp2 NA19005.hp2 NA19030.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0040 a0002c0006 a0001c0001 a0001c0040 a0002c0006	a0001c0001t0001 a0001c0001t0004 a0001c0040t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0040t0002 a0002c0006t0014	a0001c0001t0001g0102 a0001c0001t0001g0202 a0001c0001t0004g0178 others(2): Show a0001c0001t0001g0102 a0001c0001t0001g0202 a0001c0001t0004g0178 a0001c0040t0002g0188 a0002c0006t0014g0074	5	236	0.0212	-172	c.-77 others(19): Show c.-77+15970_-77+16141del	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CCDC170_chr6_151489017_151626193	151499238	TGCTGTAT others(165): Show TGCTGTATAAGTGGAATCAGACTGTATTTGACTCTTCTAGGCACACTGTA TAAGTGGAATCAGACTGTATTTGACTCTTCTAGGCACACTGTATAAGTGG AATCAGACTGTATTTGACTCTTCTAGGCACGCTGTATAAGTGGAATCAGA CTGTATTTGACTCTTCTAGGCAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp2 HG03195.hp1 others(3): Show HG01884.hp1 HG02965.hp2 HG03195.hp1 HG03453.hp1 HG03516.hp1 NA20300.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0024	a0001c0001 a0002c0021 a0007c0010 others(1): Show a0001c0001 a0002c0021 a0007c0010 a0024c0029	a0001c0001t0002 a0002c0021t0004 a0007c0010t0044 others(2): Show a0001c0001t0002 a0002c0021t0004 a0007c0010t0044 a0007c0010t0046 a0024c0029t0006	a0001c0001t0002g0200 a0002c0021t0004g0194 a0002c0021t0004g0195 others(3): Show a0001c0001t0002g0200 a0002c0021t0004g0194 a0002c0021t0004g0195 a0007c0010t0044g0201 a0007c0010t0046g0199 a0024c0029t0006g0202	6	320	0.0188	-172	c.57+ others(15): Show c.57+5086_57+5257del	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDH15_chr16_89166748_89200492	89192648	TCCCCAGC others(165): Show TCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCCTCATTACCAGCCACGC CGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCCTCATTACCA GCCTCGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCCTC ATTACCAGCCTCGCCGCTTCCTC	T T	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0020 a0020	a0020c0042 a0020c0042	a0020c0042t0004 a0020c0042t0004	a0020c0042t0004g0082 a0020c0042t0004g0082	1	406	0.0025	-172	c.185 others(17): Show c.1855+208_1855+379del	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CENPE_chr4_103100811_103203343	103112894	GTACATAT others(165): Show GTACATATATACTTATAAGTATATAAGTGTACATATATACTTATAAGTAT ATAAGTGTATATATATACTTATAAGTATATAAGTGTATATATATACTTAT AAGTATATAAGTGTATATATATACTTATAAGTATATAAGTGTATATATAT ACTTATAAGTATATAAGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18522.hp1 HG01884.hp1 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0007 a0004c0012 a0001c0007 a0004c0012	a0001c0007t0001 a0004c0012t0001 a0001c0007t0001 a0004c0012t0001	a0001c0007t0001g0097 a0004c0012t0001g0092 a0001c0007t0001g0097 a0004c0012t0001g0092	2	320	0.0063	-172	c.754 others(19): Show c.7540+1389_7540+1560del	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CHSY1_chr15_101170727_101257048	101214617	TGGTGGGA others(165): Show TGGTGGGAGGTGGCTGGATCATGGAGGTGGATTTCTCATGCATAGGTGGG AGGTGGCTGGATCATGGAGGTGGATTTCTCATGCATAGGTGGGAGGTGGC TGGATCATGGAGGTGGATTTCTCATGCATAGGTGGGAGGTGGCTGGATCA TGGAGGTGGATTTCTCATGCATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0158 a0002c0002t0002g0158	1	422	0.0024	-172	c.816 others(19): Show c.816+20293_816+20464del	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2			chr15	TogoVar
CLN8_chr8_1758789_1791570	1763383	GCGCCCGC others(165): Show GCGCCCGCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGC GCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCG CGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCC GCGCCCCGCCCCCCGCCGCGCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0022 a0001c0001t0033g0022	1	413	0.0024	-172	c.-62 others(9): Show c.-625_-454del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		405		chr8	TogoVar
COL18A1_chr21_45400165_45518720	45437452	ACAGACAG others(165): Show ACAGACAGACACACAGGCACTCTCCTGCACACACTCACACTCACACACAG GCACTCTCCTGCACACACACACTCAGACACACAGGCACTCTCCTGCACAC ACACACACACAGACACAGGCACTCTCCTGTACACACACACACTCACACAC TCAGACACACAGGCACTCTCCTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02486.hp2 others(8): Show HG01891.hp2 HG02145.hp1 HG02486.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp2 NA19043.hp2 NA20300.hp2 NA21309.hp2	a0001 a0004 a0028 a0001 a0004 a0028	a0001c0001 a0001c0004 a0001c0041 others(3): Show a0001c0001 a0001c0004 a0001c0041 a0001c0087 a0004c0023 a0028c0097	a0001c0001t0001 a0001c0004t0001 a0001c0041t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0041t0001 a0001c0087t0001 a0004c0023t0002 a0028c0097t0001	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 others(8): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0127 a0001c0001t0001g0149 a0001c0004t0001g0213 a0001c0041t0001g0155 a0001c0087t0001g0055 a0004c0023t0002g0138 a0004c0023t0002g0163 a0028c0097t0001g0036	11	292	0.0377	-172	c.107 others(19): Show c.107-30787_107-30616del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501701	CAGCCGGT others(165): Show CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC TCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC AGAAGGACCCCCAGGGGCTTCAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01074.hp1 HG01081.hp2 others(15): Show HG00544.hp1 HG01074.hp1 HG01081.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG02155.hp1 HG02602.hp1 HG02647.hp2 HG02735.hp2 HG04228.hp1 NA18969.hp1 NA18975.hp1 NA18983.hp1 NA18995.hp1 NA18999.hp1 NA19007.hp2 NA19088.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0030 others(6): Show a0001c0001 a0001c0002 a0001c0030 a0003c0009 a0003c0010 a0003c0015 a0003c0045 a0003c0047 a0006c0028	a0001c0001t0001 a0001c0002t0002 a0001c0030t0002 others(6): Show a0001c0001t0001 a0001c0002t0002 a0001c0030t0002 a0003c0009t0001 a0003c0010t0002 a0003c0015t0001 a0003c0045t0006 a0003c0047t0001 a0006c0028t0003	a0001c0001t0001g0099 a0001c0001t0001g0121 a0001c0001t0001g0128 others(15): Show a0001c0001t0001g0099 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0241 a0001c0002t0002g0047 a0001c0002t0002g0111 a0001c0002t0002g0137 a0001c0030t0002g0285 a0001c0030t0002g0286 a0003c0009t0001g0054 a0003c0009t0001g0171 a0003c0009t0001g0247 a0003c0010t0002g0172 a0003c0015t0001g0168 a0003c0015t0001g0202 a0003c0045t0006g0242 a0003c0047t0001g0069 a0006c0028t0003g0059	18	292	0.0616	-172	c.268 others(19): Show c.2684-2236_2684-2065del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A2_chr13_110302284_110518209	110496522	ACAGTCCA others(165): Show ACAGTCCACCAGCACAGCCTCAGCCAGCGGTGAGGATCTAGGGTCAGTCC ACCAGCACAGCCTCAGTCAGAGTTGAGGATCTAGGGTCAGTCCACGAGCA CAGCCTCAGTCAAGGATGAGGATCTAGGGTCAGTCCACCAGCACAGCCTC AGTCAGAGTTGAGGATCTAGGGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp2 HG01243.hp1 others(53): Show HG00423.hp2 HG00642.hp2 HG01243.hp1 HG01346.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp2 HG02723.hp1 HG02965.hp1 HG03139.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA19007.hp2 NA19056.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0012 a0015 a0017 a0024 a0027	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0014 a0001c0015 a0001c0025 a0001c0028 a0001c0029 a0001c0079 a0001c0100 a0002c0006 a0002c0013 a0002c0050 a0002c0063 a0002c0073 a0002c0082 a0002c0092 a0002c0097 a0002c0111 a0002c0120 a0003c0007 a0003c0069 a0004c0009 a0012c0034 a0015c0109 a0017c0061 a0024c0076 a0027c0080	a0001c0001t0004 a0001c0001t0005 a0001c0001t0023 others(40): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0023 a0001c0002t0001 a0001c0002t0023 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0005t0002 a0001c0008t0001 a0001c0008t0004 a0001c0014t0005 a0001c0015t0001 a0001c0015t0002 a0001c0025t0001 a0001c0025t0002 a0001c0028t0001 a0001c0029t0002 a0001c0079t0005 a0001c0100t0001 a0002c0006t0005 a0002c0013t0008 a0002c0050t0002 a0002c0063t0007 a0002c0073t0002 a0002c0082t0004 a0002c0092t0001 a0002c0097t0015 a0002c0111t0015 a0002c0120t0007 a0003c0007t0020 a0003c0007t0030 a0003c0069t0009 a0004c0009t0001 a0004c0009t0002 a0012c0034t0001 a0015c0109t0002 a0017c0061t0011 a0024c0076t0003 a0027c0080t0003	a0001c0001t0004g0348 a0001c0001t0005g0154 a0001c0001t0023g0329 others(53): Show a0001c0001t0004g0348 a0001c0001t0005g0154 a0001c0001t0023g0329 a0001c0002t0001g0101 a0001c0002t0023g0305 a0001c0003t0001g0232 a0001c0003t0002g0296 a0001c0003t0002g0341 a0001c0003t0003g0049 a0001c0003t0003g0065 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0004t0001g0099 a0001c0004t0004g0278 a0001c0004t0004g0354 a0001c0004t0004g0355 a0001c0004t0004g0356 a0001c0004t0004g0357 a0001c0005t0001g0257 a0001c0005t0001g0362 a0001c0005t0002g0297 a0001c0008t0001g0222 a0001c0008t0004g0285 a0001c0014t0005g0240 a0001c0015t0001g0227 a0001c0015t0002g0269 a0001c0015t0002g0284 a0001c0025t0001g0201 a0001c0025t0002g0339 a0001c0025t0002g0346 a0001c0028t0001g0167 a0001c0029t0002g0330 a0001c0079t0005g0361 a0001c0100t0001g0164 a0002c0006t0005g0110 a0002c0013t0008g0006 a0002c0050t0002g0317 a0002c0063t0007g0147 a0002c0073t0002g0213 a0002c0082t0004g0366 a0002c0092t0001g0230 a0002c0097t0015g0260 a0002c0111t0015g0368 a0002c0120t0007g0029 a0003c0007t0020g0120 a0003c0007t0030g0352 a0003c0069t0009g0008 a0004c0009t0001g0111 a0004c0009t0001g0244 a0004c0009t0002g0289 a0012c0034t0001g0196 a0012c0034t0001g0197 a0015c0109t0002g0321 a0017c0061t0011g0039 a0024c0076t0003g0076 a0027c0080t0003g0057	56	372	0.1505	-172	c.376 others(19): Show c.3760+1095_3760+1266del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	40/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPLX1_chr4_779957_831129	826294	GGGGGGCG others(165): Show GGGGGGCGGGGGGTGGACCCGGGGCGGGGGCGGGGGGTGGACCCGGGGGC GGGGGCGGGGGGCGGGGGCGGGGGGCGGACCCGGGGCGGGGGCGGGGGGT GGACCCGGGGCGGGGGCGGGGGTGGACCCGGGGGCGGGGGCGGGGGGCGG GGGCGGGGGCGGGGGGTGGACCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0351 a0001c0001t0002g0351	1	416	0.0024	-172	c.-50 others(9): Show c.-500_-329del	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		166		chr4	TogoVar
CSMD1_chr8_2930361_4999914	3183163	CATCGAGT others(165): Show CATCGAGTAGGTCTCTAACGCCTAATCTATCTATCCCTGAAATATCGAGT AGGTCTCTAACGTTTCTTAACGATACCATCGGCATCCATCCACGTCACAA ACTGAACGCCTAATCTATCTATCCCTGAAACATCGAGTAGGTCTCTAACG CCTAATCTATCTATCCCTGAAAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01071.hp1 others(16): Show HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01255.hp2 HG01934.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG03225.hp1 HG03710.hp1 HG04204.hp1 NA18971.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp2	a0001 a0002 a0019 others(4): Show a0001 a0002 a0019 a0021 a0029 a0034 a0039	a0001c0003 a0001c0005 a0001c0006 others(15): Show a0001c0003 a0001c0005 a0001c0006 a0001c0017 a0001c0043 a0001c0049 a0001c0073 a0001c0080 a0002c0030 a0002c0041 a0002c0051 a0002c0070 a0002c0077 a0019c0018 a0021c0016 a0029c0028 a0034c0055 a0039c0009	a0001c0003t0008 a0001c0003t0019 a0001c0005t0002 others(16): Show a0001c0003t0008 a0001c0003t0019 a0001c0005t0002 a0001c0006t0060 a0001c0017t0005 a0001c0043t0031 a0001c0049t0002 a0001c0073t0007 a0001c0080t0040 a0002c0030t0016 a0002c0041t0027 a0002c0051t0006 a0002c0070t0046 a0002c0077t0001 a0019c0018t0058 a0021c0016t0048 a0029c0028t0024 a0034c0055t0034 a0039c0009t0001	a0001c0003t0008g0053 a0001c0003t0019g0107 a0001c0005t0002g0111 others(16): Show a0001c0003t0008g0053 a0001c0003t0019g0107 a0001c0005t0002g0111 a0001c0006t0060g0103 a0001c0017t0005g0003 a0001c0043t0031g0044 a0001c0049t0002g0071 a0001c0073t0007g0108 a0001c0080t0040g0025 a0002c0030t0016g0122 a0002c0041t0027g0018 a0002c0051t0006g0081 a0002c0070t0046g0092 a0002c0077t0001g0016 a0019c0018t0058g0068 a0021c0016t0048g0106 a0029c0028t0024g0040 a0034c0055t0034g0047 a0039c0009t0001g0002	19	126	0.1508	-172	c.562 others(19): Show c.5621-2121_5621-1950del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CUX1_chr7_101811007_102288958	102159004	AGGAGAGT others(165): Show AGGAGAGTTCCTTAGTGTAGACATCTCACCACGGTGTTATCCTAGGAGAG TTCCTTAGTGTAGACATCTCACCACGGTGTTATCCTAGGAGAGTTCCTTA GTGTAGACATCTCACCACGGTGTTATCCTAGGAGAGTTCCTTAGTGTAGA CATCTCACCACGGTGTTATCCTC	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG04115.hp2 HG04199.hp2 HG01169.hp1 HG04115.hp2 HG04199.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0003 a0004c0010 a0001c0002 a0002c0003 a0004c0010	a0001c0002t0001 a0002c0003t0002 a0004c0010t0001 a0001c0002t0001 a0002c0003t0002 a0004c0010t0001	a0001c0002t0001g0110 a0002c0003t0002g0036 a0004c0010t0001g0073 a0001c0002t0001g0110 a0002c0003t0002g0036 a0004c0010t0001g0073	3	132	0.0227	-172	c.756 others(15): Show c.756+496_756+667del	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	102159004	AGGAGAGT others(165): Show AGGAGAGTTCCTTAGTGTAGACATCTCACCACGGTGTTATCCTAGGAGAG TTCCTTAGTGTAGACATCTCACCACGGTGTTATCCTAGGAGAGTTCCTTA GTGTAGACATCTCACCACGGTGTTATCCTAGGAGAGTTCCTTAGTGTAGA CATCTCACCACGGTGTTATCCTC	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG04115.hp2 HG04199.hp2 HG01169.hp1 HG04115.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0057 a0001c0001t0058 a0001c0001t0006 a0001c0001t0057 a0001c0001t0058	a0001c0001t0006g0029 a0001c0001t0057g0090 a0001c0001t0058g0118 a0001c0001t0006g0029 a0001c0001t0057g0090 a0001c0001t0058g0118	3	136	0.0221	-172	c.723 others(15): Show c.723+496_723+667del	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CYP4F12_chr19_15668087_15702174	15673873	GCTAACTC others(165): Show GCTAACTCACTCATTCCTCTACCCACTCACTCCTCTACCCACTCACTCAC TCCTCTACCCACTCACTCACTCCTCTACCCACTCACTCATTCCTCTACCC ACTCACTCATTCCTCTACCCACTCACTCCTCTACCCACTCACTCACTCCT CTACCCACTCACTCACTCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03490.hp1 HG02976.hp2 HG03490.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0130 a0003c0003t0002g0131	2	410	0.0049	-172	c.198 others(15): Show c.198+149_198+320del	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX51_chr12_132131594_132149319	132135732	CGCTCCTC others(165): Show CGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTG CCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACC TCCCGAGTGTGCCCCGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	334	0.0030	-172	c.33 others(11): Show c.3368_*3539del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		861		chr12	TogoVar
DIP2C_chr10_269201_694668	429387	CCGGACCC others(165): Show CCGGACCCTGGCTGCCTCCCCCCCCGGACCCTGGCTGCCTCCCCCCGGAC CCTGGCTGCCTCCCCCCGGACCCTGGCTGCCTCCCCCCGGACCCTGGCTG CCTCCCCCCGGACCCTGGCTGCCTCCCCCCGGACCCTGGCTGCCTCCCCC ACAGACCCTGGCTGCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp1 HG03225.hp1 others(2): Show HG02717.hp2 HG02809.hp1 HG03225.hp1 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0016	a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0016t0009	a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0061 others(2): Show a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0061 a0001c0005t0001g0009 a0001c0016t0009g0073	5	88	0.0568	-172	c.395 others(17): Show c.395-6526_395-6355del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1101681	GACACGAC others(165): Show GACACGACGATGGGAAGGTCCTCGTCACCCCGGAGCCGAACACGACACGA CGATGGGAAGCTCCTCGTCACCCCTGAGCCGAACACGACACGACGATGGG AAGGTCCTCGTCACCCCTGAGCCGAACACGACACGACGATGGGAAGCTCC TCGTCACCCCTGAGCCGAACACA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0010 a0002c0004t0018g0010	1	40	0.0250	-172	c.74- others(19): Show c.74-157139_74-156968del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPEP1_chr16_89608642_89643433	89627719	GTTGCAAT others(165): Show GTTGCAATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGTGATTC TCCTCCAAAAGCCTCCAAGTAGCTGGGATTACGGGCAAGGGCCACCATGC CCAGTAAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGTC AGGCTGGTCTCAAACTCCTAACC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	250	0.0040	-172	c.-10 others(19): Show c.-106-2584_-106-2413del	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH7_chr9_137549444_137583925	137565310	TGTCTGTG others(165): Show TGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03688.hp1 HG03710.hp1 HG00323.hp1 HG03688.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0294 a0001c0001t0002g0298 a0001c0001t0002g0273 a0001c0001t0002g0294 a0001c0001t0002g0298	3	340	0.0088	-172	c.641 others(15): Show c.641-328_641-157del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EIPR1_chr2_3183970_3382818	3242190	GCCACTGA others(165): Show GCCACTGACGGCTGGAAGACAGAGATTTCAGGCCCCCGACTCCACACCAT GGGCCCGGCAGCAGCCACTGACGGCTGGAAGACAGAGATTTCAGGCCCCT AACTCCACACCACACACCTGGCAGCAGCCACCGATGGCTGGAAGACAGAG ATTTCAGGCCCCCGACTCCACAC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp1 HG03669.hp1 HG00741.hp2 HG01123.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0073 a0001c0001t0003g0198 a0001c0001t0003g0218 a0001c0001t0002g0073 a0001c0001t0003g0198 a0001c0001t0003g0218	3	250	0.0120	-172	c.416 others(19): Show c.416+14937_416+15108del	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELL2_chr5_95880098_95966851	95927400	TACACACA others(165): Show TACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACA TACACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACA TACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACATA CACACACACGTGTGTATATAGAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG02818.hp2 others(3): Show HG00741.hp2 HG01243.hp1 HG02818.hp2 HG02886.hp2 HG03471.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0008 a0002c0002t0001 a0002c0002t0006 a0001c0003t0008 a0002c0002t0001 a0002c0002t0006	a0001c0003t0008g0013 a0002c0002t0001g0143 a0002c0002t0001g0144 others(3): Show a0001c0003t0008g0013 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0006g0122	6	314	0.0191	-172	c.196 others(17): Show c.196-8027_196-7856del	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ERC1_chr12_986223_1500931	1122457	ATCTCTAT others(165): Show ATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTAT CTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCT CTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTGTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0070 a0002c0002t0070	a0002c0002t0070g0138 a0002c0002t0070g0138	1	162	0.0062	-172	c.156 others(19): Show c.1569+6426_1569+6597del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERGIC1_chr5_172829251_172957683	172923085	AGGAGGAG others(165): Show AGGAGGAGGGTTCCAGGATCATACCAAGGGTTCTAGTCTGAGCATCTGGG AGGAGGAGGAGGAGGAGGGTTCCAGGATCATACCAAGGGTTCTAGTCTGA GCATCTGGGAGGAGGAGGAGGAGGAGGGTTCCAGGATCATACCAAGGGTT CTAGTCTGAGCATCTGGGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp1 others(63): Show HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00609.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02109.hp1 HG02165.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 NA18960.hp1 NA18964.hp1 NA18967.hp1 NA18983.hp2 NA18985.hp1 NA19005.hp2 NA19010.hp1 NA19058.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0021 a0001c0001t0027 a0001c0001t0030 a0002c0003t0002	a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0039 others(63): Show a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0142 a0001c0001t0001g0257 a0001c0001t0001g0264 a0001c0001t0001g0275 a0001c0001t0001g0290 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0159 a0001c0001t0002g0173 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0202 a0001c0001t0002g0219 a0001c0001t0002g0225 a0001c0001t0002g0238 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0265 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0003g0334 a0001c0001t0005g0004 a0001c0001t0005g0155 a0001c0001t0005g0161 a0001c0001t0005g0209 a0001c0001t0005g0232 a0001c0001t0005g0320 a0001c0001t0005g0324 a0001c0001t0006g0191 a0001c0001t0006g0296 a0001c0001t0008g0149 a0001c0001t0008g0186 a0001c0001t0008g0231 a0001c0001t0021g0022 a0001c0001t0027g0091 a0001c0001t0030g0089 a0002c0003t0002g0012	66	334	0.1976	-172	c.376 others(15): Show c.376-858_376-687del	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH1_chr8_659200_736224	714268	GGCATCTC others(165): Show GGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTG GGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATCTCTCGGTGGGATGTG CTGCACCCAGGCGGCCTCTTCCC	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0279 a0001c0002t0002g0279	1	378	0.0027	-172	c.169 others(17): Show c.169+1421_169+1592del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714354	GGCATCTC others(165): Show GGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATCTCTCGGTG GGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTG CTGCACCCAGGCGGCCTCTTCCC	G G	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	378	0.0027	-172	c.169 others(17): Show c.169+1335_169+1506del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
GABRG3_chr15_26966181_27546984	27388191	GGTAAGGA others(165): Show GGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGGAGGAGGGAG GGAGGAAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAA GAAAAGAAGGAAGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAGGAAAGG TGGGAGGGAGGGTAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01099.hp2 others(13): Show HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01981.hp1 HG02698.hp1 HG03195.hp1 HG03453.hp1 HG03516.hp2 HG03710.hp1 HG03834.hp2 NA19030.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0001c0016 a0001c0017	a0001c0001t0001 a0001c0001t0007 a0001c0001t0031 others(8): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0031 a0001c0002t0001 a0001c0002t0006 a0001c0002t0016 a0001c0002t0029 a0001c0004t0011 a0001c0011t0018 a0001c0016t0001 a0001c0017t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0084 others(13): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0007g0014 a0001c0001t0031g0028 a0001c0002t0001g0029 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0006g0062 a0001c0002t0016g0012 a0001c0002t0029g0032 a0001c0004t0011g0078 a0001c0011t0018g0004 a0001c0016t0001g0074 a0001c0017t0001g0039	16	92	0.1739	-172	c.574 others(19): Show c.574+59305_574+59476del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT9_chr12_132191372_132334589	132235660	CCCCTCGG others(165): Show CCCCTCGGGACAGGGCAGGAGGGTCCCCCGGGCTGGAGTTCAACCCTCGG GACAGGGCAGGAGGGTCCCCCGGGCTGGAGTGAGTTCAACCCTCGGGACA GGGCAGGAGGGTCCCCCGGGCTGGAGTTCAACCCTCGGGACAGGGCAGGA GGGTCCCCCGGGCTGGAGTTCAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG02027.hp1 others(8): Show HG00408.hp1 HG00408.hp2 HG02027.hp1 HG02683.hp1 HG02698.hp1 NA18952.hp2 NA18964.hp2 NA18999.hp2 NA19002.hp2 NA19067.hp1 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0011 a0001c0013 a0001c0020 others(3): Show a0001c0011 a0001c0013 a0001c0020 a0001c0034 a0001c0039 a0003c0033	a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 others(3): Show a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 a0001c0034t0004 a0001c0039t0006 a0003c0033t0001	a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0011t0001g0116 others(8): Show a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0011t0001g0116 a0001c0011t0001g0129 a0001c0013t0004g0036 a0001c0013t0004g0095 a0001c0013t0004g0124 a0001c0020t0001g0115 a0001c0034t0004g0158 a0001c0039t0006g0001 a0003c0033t0001g0114	11	183	0.0601	-172	c.107 others(21): Show c.1077+12078_1077+12249del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GOLGA8A_chr15_34374068_34442808	34437542	CCGCGCCG others(165): Show CCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTC GCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCT CGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCC TCGCCGCGCCGCCGTCCTCGCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01074.hp1 HG01261.hp2 HG01928.hp1 others(7): Show HG01074.hp1 HG01261.hp2 HG01928.hp1 HG02135.hp1 HG02293.hp2 HG02738.hp2 HG03492.hp2 HG04204.hp2 NA18943.hp2 NA18947.hp1	a0002 a0035 a0037 others(1): Show a0002 a0035 a0037 a0038	a0002c0002 a0035c0032 a0037c0031 others(1): Show a0002c0002 a0035c0032 a0037c0031 a0038c0028	a0002c0002t0003 a0035c0032t0003 a0037c0031t0003 others(1): Show a0002c0002t0003 a0035c0032t0003 a0037c0031t0003 a0038c0028t0101	a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 others(7): Show a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0169 a0035c0032t0003g0170 a0037c0031t0003g0166 a0038c0028t0101g0161	10	245	0.0408	-172	c.-15 others(11): Show c.-1528_-1357del	GOLGA8A	ENSG00000175265.19	transcript	ENST00000359187.5	protein_coding	1/25	47852		chr15	TogoVar
GRAMD4_chr22_46615386_46684785	46616128	GTTCCCCT others(165): Show GTTCCCCTGTGTGTAGGTTCCCCTGTGTGTGTAGGTTCCCCTGTGTGTAC GTTCCCCTGTGTGTACGTTCCCCTGTATGTACGTTCCCCTGTGCGTGTAG GTTCCCCTGTGCGTGTAGGTTCCCCCGTGCGTGTAGGTTCCCCCGTGTGT GCAGGTTCCCCTGTGTGTGTGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	328	0.0031	-172	c.-44 others(11): Show c.-4486_-4315del	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding		4257		chr22	TogoVar
GYG2_chrX_2823930_2887818	2845069	ATATTTAT others(165): Show ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATAT TTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTT ATATACACGTGTGTATGTATATT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0126 a0002c0002t0005g0126	1	316	0.0032	-172	c.149 others(17): Show c.149+1719_149+1890del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar

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Search Results (Total: 10000 hits)