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
ZNF516_chr18_76352682_76500242	76392909	AAGGCAGG others(143): Show AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT C	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0088 a0003c0007t0088	a0003c0007t0088g0108 a0003c0007t0088g0108	1	346	0.0029	-150	c.181 others(21): Show c.1811-12756_1811-12607del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76424484	TGAAACAC others(143): Show TGAAACACACGCAGGTGAAAAGGTTCCCCCATGAAACACATGCAGGTGAA AAGGCTCCCCCCGAAACACACACGCAGGTGAAAAGGTTCCCCCGAAACAC ACGCAGGTGAAAAGGCTCCCCCGAAACACACGCAGGTGAAAAGGCTCCCC C	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0265 a0001c0001t0023g0265	1	346	0.0029	-150	c.181 others(21): Show c.1810+16611_1810+16760del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF713_chr7_55882456_55947225	55887733	GGCGGGGG others(143): Show GGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCG GAGGCGGGGGGCGGAGGCGGGGGGCGGCGGGCGGCGGGCGGCGGGCGGCG GGCGGCGGGCGGCGGCGGCGGCGGGCGGCGGGCGGCGGCGGCGGCGGCGG C	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0110 a0001c0001t0042g0110	1	410	0.0024	-150	c.-58 others(16): Show c.-583+55_-583+204del	ZNF713	ENSG00000178665.16	transcript	ENST00000429591.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF778_chr16_89212703_89242141	89241043	GGGGAGGA others(143): Show GGGGAGGAGAGCGAGGGACTTCCGGGGGGAAGGGAGGAGAGCGAGGGACT TCCGGGGGGAAGGGAGGAGAGCGAGGGACTTCCGGGGGGAAGGGAGGAGA GCGAGGGACTTCCGGGGGGAAGGGAGGAGAGCGAGGGACTTCCGGGGGGA A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00673.hp1 others(49): Show HG00423.hp2 HG00621.hp2 HG00673.hp1 HG00741.hp1 HG02071.hp2 HG02135.hp2 HG02602.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19054.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0016 a0001c0001t0019 others(11): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0037 a0001c0001t0068 a0001c0001t0083 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0118 a0001c0002t0001	a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0035 others(40): Show a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0088 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0100 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0114 a0001c0001t0004g0117 a0001c0001t0004g0172 a0001c0001t0016g0035 a0001c0001t0016g0037 a0001c0001t0016g0098 a0001c0001t0016g0119 a0001c0001t0019g0042 a0001c0001t0019g0118 a0001c0001t0021g0093 a0001c0001t0021g0094 a0001c0001t0021g0116 a0001c0001t0025g0041 a0001c0001t0025g0111 a0001c0001t0037g0038 a0001c0001t0037g0099 a0001c0001t0068g0011 a0001c0001t0083g0174 a0001c0001t0113g0101 a0001c0001t0114g0087 a0001c0001t0115g0012 a0001c0001t0116g0110 a0001c0001t0118g0036 a0001c0002t0001g0135	52	434	0.1198	-150	c.12 others(13): Show c.12482_*12631del	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding		3903		chr16	TogoVar
ACTRT3_chr3_169761921_169774561	169771298	AATATATA others(142): Show AATATATAAAAAATTATGTTTATATATAATAAATATAAAAATTTGTTTAT ATATAATAAATATAAAAATTTATGTTTATATATAATAAATATATAAAAAT TTATGTTTATATATAATAAATATATAAAAATTTGTTTATATATAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	418	0.0024	-149	c.-19 others(11): Show c.-1927_-1779del	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1738		chr3	TogoVar
ADARB2_chr10_1172313_1742525	1326851	TCCCCACT others(142): Show TCCCCACTGCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAG CGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGC ACAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCCCAGCGCCTCCCCA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG02109.hp1 others(1): Show HG00408.hp2 HG00438.hp1 HG02109.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0016 a0001c0001 a0002c0002 a0002c0016	a0001c0001t0019 a0001c0001t0022 a0002c0002t0007 others(1): Show a0001c0001t0019 a0001c0001t0022 a0002c0002t0007 a0002c0016t0006	a0001c0001t0019g0038 a0001c0001t0022g0015 a0002c0002t0007g0001 others(1): Show a0001c0001t0019g0038 a0001c0001t0022g0015 a0002c0002t0007g0001 a0002c0016t0006g0010	4	106	0.0377	-149	c.107 others(21): Show c.1077+36028_1077+36176del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ANKRD11_chr16_89262630_89495561	89421266	GGGGGTGA others(142): Show GGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGATGGGA CCATCACCCGTCCATGTCTGGGGGTGGGGGTGAGACACGAAGGGTCGGTG TGTGATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCTGGGGGC	G G	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0289 a0002c0002t0002g0289	1	310	0.0032	-149	c.-14 others(19): Show c.-144-3047_-144-2899del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89421335	GGGGGTGG others(142): Show GGGGGTGGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGG ATGGGACCATCACCCGTCCATGTCTGGGGGCGGGGGTGAGACACGAAGGG TCGGTGTGTGATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCT	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0173 a0002c0002t0002g0173	1	310	0.0032	-149	c.-14 others(19): Show c.-144-3116_-144-2968del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANO2_chr12_5557655_5950259	5902661	GGGGAGGG others(142): Show GGGGAGGGGAGGAGGGGGGAGGGGAGGGGAGGAGGGGGGAGGGGAGGGGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAG GGGAGGGGAAGGGAGGGGAGGAGAGGGGAGGGGATGGGATGGGATGGGAA	G G	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	162	0.0062	-149	c.534 others(19): Show c.534+18230_534+18378del	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANO9_chr11_412938_447011	425157	AAAGGCGG others(142): Show AAAGGCGGCGTGGAGAGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGAG CGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGAGAGACGGGACGCGCGG GAGCAAAAGGCGGCGTGGAGAGACGGGACGCGCGGGAGGAAAAGGCTCCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	286	0.0035	-149	c.133 others(19): Show c.1334+2782_1334+2930del	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22			chr11	TogoVar
AQP12A_chr2_240686866_240703483	240693786	ATCTCTCT others(142): Show ATCTCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTCTCTCTCTCTGT CTCTCCTCTCTCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTCTCTC TCTGTCTCCCTGTCTCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG06807.hp1 HG02976.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	171	0.0117	-149	c.572 others(15): Show c.572-563_572-415del	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP11A_chr13_112685038_112892168	112801271	GTACTGGA others(142): Show GTACTGGAAATCCTAGCTAATACAGTAAGAGTAGAAATGGGAATAAAAGG CCTACAGCTGACGTCATACTTAATGGTGAAAAACGAGATGATTTCACCCT AAGATTGGAAAAAAGGCAAGAAATCCCTTATCACTGTTCTTATGCAGCAT	G G	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0124 a0001c0005t0001g0124	1	254	0.0039	-149	c.163 others(17): Show c.163-3684_163-3536del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BRDT_chr1_91944401_92019421	91962173	AAAAAAAA others(142): Show AAAAAAAAAAAAAAAAAAAATCCAAGGCTAAGGCATATATAGTGAAACTT TTACTATTTGTATATAAAAAATTTGTATTTGTTTAAAAATTGATTCCTTT GCCATTTGGCTTTTTTTTTTTTTCATCCTGTCTTAATCATGATGTGCTTT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG06807.hp1 HG01516.hp2 HG06807.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0300 a0004c0004t0002g0301 a0004c0004t0002g0300 a0004c0004t0002g0301	2	318	0.0063	-149	c.-37 others(15): Show c.-37-540_-37-392del	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1R_chr12_7075219_7097445	7084999	GTGGTGGT others(142): Show GTGGTGGTGATGGTGGTGTTGGTAATGGTGGTGGTGATCATGGTATTGTT GACAGTGGTGTTGGTAATGATAGTGGTGATGGTGGTGATGGTGGTGTTAG TGTGGTGGTGATGATGATGTTAGTAATGGTGATGGTGGTGATGATGGTGT	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02129.hp1 HG02080.hp1 HG02129.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0059 a0003c0003t0001g0206 a0002c0002t0001g0059 a0003c0003t0001g0206	2	320	0.0063	-149	c.127 others(17): Show c.1273+713_1273+861del	C1R	ENSG00000159403.18	transcript	ENST00000647956.2	protein_coding	9/10			chr12	TogoVar
CCDC124_chr19_17928015_17948985	17946239	CATAACTG others(142): Show CATAACTGTGCCACTGCACTGCAGCCTGGGCGACGGAGCGAGACCCCGTC TCTAAAAAATAAACTGGGTACAGCTGAAGTTAACATAAAAACTAACCAAC ATATGTTGGACACTAGCTTAGTTTGGAGGTCCCCCAAGAACCAACCCTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	420	0.0024	-149	c.25 others(11): Show c.2525_*2673del	CCDC124	ENSG00000007080.11	transcript	ENST00000445755.7	protein_coding		2255		chr19	TogoVar
CCDC77_chr12_396644_447642	421123	TCTTCTGT others(142): Show TCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGC ACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTG AGAGGGTAAATACACACATAGCAGCACACTCCATGTTCCATTACAGTGCG	T T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18995.hp2 NA19056.hp2 NA18953.hp1 NA18995.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0039 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0039	3	432	0.0069	-149	c.413 others(17): Show c.413+2523_413+2671del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421842	ACTCCATG others(142): Show ACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAATACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACT TCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0005 a0007c0007t0005	a0007c0007t0005g0245 a0007c0007t0005g0245	1	432	0.0023	-149	c.413 others(17): Show c.413+3228_413+3376del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCKAR_chr4_26476396_26495484	26492548	TTCCTTCC others(142): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTTCCTTTCTTCCCTCCCTTCCTCCTTTCTTTCTCTCTCTCTTTCTTT CCTTTCTTCCCTCCCTCCCTCCTTTCTTTTTCTCTTTCTTTCTTTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	-149	c.-24 others(11): Show c.-2430_-2282del	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding		2065		chr4	TogoVar
CDC42EP5_chr19_54460026_54478296	54471981	ACCCCCCA others(142): Show ACCCCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCC TCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGAC CCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG	A A	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18972.hp2 NA18956.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0135 a0001c0002t0002g0136	2	421	0.0048	-149	c.-14 others(17): Show c.-141-445_-141-297del	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDC42EP5_chr19_54460026_54478296	54472056	GCCCCCAG others(142): Show GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGACCCCCCAGCCCCTCCTCCCTCAGACTCATGAGTCCAGA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	421	0.0024	-149	c.-14 others(17): Show c.-141-520_-141-372del	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CFAP410_chr21_44323944_44344390	44338808	TCCCGCCC others(142): Show TCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCGTCCCGCCCCGGCTCC TCCCTCCGGCTCCGCCCTCGTCCCGCCCCGGCTCCTCCCTCCGGCTCCGC CCTCTCCCCGCCCCGGCTCCGCCCTCTCCCCGCCCCGGCTCCGCCCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19000.hp1 NA18947.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	436	0.0046	-149	c.77+ others(13): Show c.77+161_77+309del	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	1/6			chr21	TogoVar
COLEC11_chr2_3590112_3649644	3640856	TCCCACGG others(142): Show TCCCACGGCGGACACCCACCCCCGTCACATCCCACGGCGGACACCCACCC CCGTCACATCCCACGGCGGACACCCACCCCCGTCACATCCCACGGTGGAC ACCCACCCACCATGTAGACCCCACGGTGGACACCCACCCACCATGTAGAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02004.hp2 NA20752.hp2 HG00741.hp1 HG02004.hp2 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0223 a0002c0003t0001g0233 a0002c0003t0001g0334 a0002c0003t0001g0223 a0002c0003t0001g0233 a0002c0003t0001g0334	3	378	0.0079	-149	c.328 others(15): Show c.328+533_328+681del	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX51_chr12_132131594_132149319	132149170	CCGCCTCG others(142): Show CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-149	c.-50 others(11): Show c.-5023_-4875del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4852		chr12	TogoVar
DGKB_chr7_14140049_14907751	14211736	ATGTTTTG others(142): Show ATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTT GTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTT TACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	148	0.0068	-149	c.212 others(21): Show c.2123-33734_2123-33586del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIP2C_chr10_269201_694668	678891	CCCCCCAC others(142): Show CCCCCCACCCATGCTCCCCGCGCCCATGCTCCCCGCACCCATGCTCCCCA CACCCGTCCTCCCCGCGCCCATGCTCCTCACACCCGTGCTCCCCGCGCCC ATCTCTGCTCCCCATGTCCATGCTCCCCGCACCTGTCCTCCCCGCGCCCA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00609.hp2 others(56): Show HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02922.hp1 HG03579.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 NA18747.hp1 NA18906.hp2 NA18962.hp2 NA18970.hp1 NA19007.hp1 NA19007.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0020 a0001c0021 a0001c0022 a0001c0023	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002 a0001c0007t0007 a0001c0009t0003 a0001c0011t0003 a0001c0012t0002 a0001c0013t0002 a0001c0014t0001 a0001c0017t0002 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003 a0001c0023t0003	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(56): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0085 a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0036 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0047 a0001c0002t0003g0059 a0001c0002t0003g0063 a0001c0003t0002g0032 a0001c0003t0002g0037 a0001c0003t0002g0040 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0069 a0001c0004t0001g0041 a0001c0004t0001g0068 a0001c0004t0003g0039 a0001c0004t0003g0078 a0001c0006t0001g0045 a0001c0006t0002g0038 a0001c0006t0002g0046 a0001c0006t0002g0058 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0007t0007g0060 a0001c0009t0003g0003 a0001c0011t0003g0088 a0001c0012t0002g0052 a0001c0013t0002g0035 a0001c0014t0001g0044 a0001c0017t0002g0064 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002 a0001c0023t0003g0071	59	88	0.6705	-149	c.85+ others(17): Show c.85+10454_85+10602del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLC1_chr8_13078361_13519851	13453414	ATATATAT others(142): Show ATATATATATGTGTATATATATATGTATATATATACATATATATATGTAT ATATATACATATATATGTATATATATACATATATATATGTATATATATAT ACATATATATATATGTATATATATACATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0158 a0006c0007t0005g0158	1	212	0.0047	-149	c.102 others(21): Show c.1023+45486_1023+45634del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1247908	GTGAGTCT others(142): Show GTGAGTCTGATGGCCCACGTCGGTGGCTGGGAAGACATTTGAGATCAGTG TGGAGTGATGGTCCACGTTGGTGGCCGGGAAGACCTTTGAGATCAGTGTG GGAGTCTGATGGCCCACGTCGGTGGCTGGGAAGACATTTGAGATCAGTGT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	-149	c.74- others(17): Show c.74-10942_74-10794del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1568613	TCACTCAG others(142): Show TCACTCAGCAGACACAAATCCGTCTCTGCCCGTGGCCCCCATGCCACTGT CCACTCAGCAGACACAAATCCGTCTCTGCCCGTGGCCCCCATGCCACTGC CCACTCAGCAGACACAATTCCGCTCTGCCCGTGGCCCCCATGCCACTGTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-149	c.144 others(19): Show c.1442+2799_1442+2947del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DSCAML1_chr11_117422772_117802216	117769246	ATGTATAT others(142): Show ATGTATATATTATATATTTTATATATTTATATATTATATATTTTATATAT TTATATATATTTTTATATAATATATATTTTATATATATAATATATATTTT ATATATATTATATATTTTATATAATATATATTTTATATATTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG00738.hp1 others(56): Show HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp1 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18960.hp1 NA18966.hp1 NA18977.hp1 NA18989.hp2 NA18994.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0005 a0001c0007 a0001c0008 others(36): Show a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0018 a0001c0020 a0001c0024 a0001c0025 a0001c0026 a0001c0042 a0001c0043 a0001c0047 a0001c0048 a0001c0050 a0001c0051 a0001c0053 a0001c0054 a0002c0001 a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0010 a0002c0019 a0002c0032 a0002c0033 a0002c0034 a0002c0057 a0002c0058 a0002c0062 a0002c0064 a0002c0066 a0004c0061 a0006c0065	a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 others(51): Show a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0008t0004 a0001c0009t0002 a0001c0011t0002 a0001c0011t0003 a0001c0012t0003 a0001c0013t0003 a0001c0015t0001 a0001c0015t0002 a0001c0015t0005 a0001c0016t0001 a0001c0016t0002 a0001c0018t0002 a0001c0020t0001 a0001c0024t0002 a0001c0024t0003 a0001c0025t0004 a0001c0026t0001 a0001c0042t0003 a0001c0043t0003 a0001c0047t0002 a0001c0048t0001 a0001c0050t0001 a0001c0051t0002 a0001c0053t0001 a0001c0054t0002 a0002c0001t0003 a0002c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0003t0002 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0010t0002 a0002c0010t0004 a0002c0019t0001 a0002c0032t0003 a0002c0033t0002 a0002c0034t0001 a0002c0057t0003 a0002c0058t0004 a0002c0062t0002 a0002c0064t0001 a0002c0066t0002 a0004c0061t0002 a0006c0065t0001	a0001c0005t0001g0099 a0001c0007t0001g0092 a0001c0007t0001g0111 others(56): Show a0001c0005t0001g0099 a0001c0007t0001g0092 a0001c0007t0001g0111 a0001c0007t0001g0112 a0001c0007t0001g0138 a0001c0008t0001g0137 a0001c0008t0004g0100 a0001c0009t0002g0180 a0001c0011t0002g0026 a0001c0011t0003g0050 a0001c0012t0003g0094 a0001c0013t0003g0055 a0001c0015t0001g0031 a0001c0015t0002g0038 a0001c0015t0005g0008 a0001c0016t0001g0044 a0001c0016t0002g0147 a0001c0018t0002g0087 a0001c0020t0001g0027 a0001c0024t0002g0036 a0001c0024t0003g0073 a0001c0025t0004g0053 a0001c0026t0001g0003 a0001c0042t0003g0127 a0001c0043t0003g0184 a0001c0047t0002g0057 a0001c0048t0001g0025 a0001c0050t0001g0022 a0001c0051t0002g0010 a0001c0053t0001g0024 a0001c0054t0002g0173 a0002c0001t0003g0172 a0002c0001t0004g0139 a0002c0002t0001g0047 a0002c0002t0002g0011 a0002c0002t0002g0028 a0002c0002t0003g0013 a0002c0002t0003g0159 a0002c0002t0004g0004 a0002c0003t0002g0163 a0002c0004t0002g0005 a0002c0004t0003g0002 a0002c0004t0004g0151 a0002c0006t0001g0156 a0002c0006t0002g0088 a0002c0006t0003g0052 a0002c0010t0002g0048 a0002c0010t0004g0116 a0002c0019t0001g0120 a0002c0032t0003g0001 a0002c0033t0002g0104 a0002c0034t0001g0125 a0002c0057t0003g0035 a0002c0058t0004g0091 a0002c0062t0002g0117 a0002c0064t0001g0165 a0002c0066t0002g0070 a0004c0061t0002g0106 a0006c0065t0001g0109	59	194	0.3041	-149	c.511 others(17): Show c.511+7396_511+7544del	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
EHMT1_chr9_137614005_137841127	137818595	GGCGCCAT others(142): Show GGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02165.hp2 HG03688.hp1 others(1): Show HG01175.hp1 HG02165.hp2 HG03688.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0097 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0097 a0001c0001t0001g0143	4	170	0.0235	-149	c.354 others(17): Show c.3540+459_3540+607del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818937	GGCGCCGT others(142): Show GGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	170	0.0059	-149	c.354 others(17): Show c.3540+801_3540+949del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENOSF1_chr18_665318_717630	666895	GGTGATGG others(142): Show GGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGG TGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTG ATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA19083.hp2 NA18967.hp2 NA19083.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0190 a0005c0009t0001g0286 a0005c0009t0001g0190 a0005c0009t0001g0286	2	418	0.0048	-149	c.72 others(11): Show c.7261_*7409del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3422		chr18	TogoVar
EPS8L1_chr19_55070869_55092923	55078624	TGGGGGGC others(142): Show TGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGCCTGGAC TCCTGGGTCAGAGGGAAGAGGGGCTGGGGGCCTGGACTCCTGGGTCAGAG GGAAGAGGGGCTGGGGGTCTGGACTCCTGGGTCAGAGGGAGGAGGGGCTG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02895.hp2 others(4): Show HG02451.hp1 HG02630.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp1 NA18522.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0044 a0001c0001t0001g0113 a0001c0001t0001g0114 others(3): Show a0001c0001t0001g0044 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0127 a0002c0002t0001g0156	7	340	0.0206	-149	c.59- others(13): Show c.59-369_59-221del	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ERBB4_chr2_211370717_212543802	211860962	ATATAAAT others(142): Show ATATAAATATATTTAAATATATTATATAATATAATATATTATATATTTAT ATATTTATATATATATAAATATAATATATTTATATATTTATATATATATA AATATAATATATTTATATATTATAAAATATATAAATACATTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0007 a0001c0001t0014g0007	1	56	0.0179	-149	c.422 others(19): Show c.422-72952_422-72804del	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
FAM229B_chr6_112082591_112107790	112104353	TAATACAG others(142): Show TAATACAGTAGCTCTAATTATTGTATGGTGGAGAGTAAATGTAATAAATA TTACTCATTTAATTCTAAAGAAGACAGGAAAAGAGGAAAGAAGGAACAAA GATAATACATTTAAACCATATGATATTGATATTTGCATTAATTACAGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0001 a0005c0005t0001g0001	1	418	0.0024	-149	c.35 others(11): Show c.3567_*3715del	FAM229B	ENSG00000203778.8	transcript	ENST00000368656.7	protein_coding		1564		chr6	TogoVar
FASTKD1_chr2_169523508_169578865	169575145	CCCCCCAC others(142): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGGCAGGTCGGCTGGCCGGGCGGGGGGCTGACCG CCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCTGGGCGGGGAGCTGACCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(124): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(120): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0175 a0001c0001t0004g0187 a0001c0001t0007g0215 a0001c0001t0007g0216 a0001c0001t0010g0179 a0001c0001t0013g0379	127	392	0.3240	-149	c.-17 others(11): Show c.-1768_-1620del	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding		1281		chr2	TogoVar
FBXO25_chr8_401958_482967	474741	TTCACCCT others(142): Show TTCACCCTTTTCAGATATATCATTTTAAAATACTTTGTCCCATTCCGTGG ATTGCCTTTCACTCTGTTTTGTTCTTTGATGTACAGAAGTTGTTTCTTTC TTTTAGTTACCTGTGTGTGCCTCTGGTGTCATATCTAAGAAATCACTGCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG03130.hp1 HG03579.hp1 HG02970.hp2 HG03130.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0013 a0001c0001t0029g0013	3	412	0.0073	-149	c.60 others(11): Show c.6087_*6235del	FBXO25	ENSG00000147364.17	transcript	ENST00000350302.8	protein_coding	10/10	6087	INFO_REALIGN_3_PRIME	chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241806228	TCCCCCCT others(142): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0055 a0001c0009t0001g0058 a0001c0009t0001g0055 a0001c0009t0001g0058	2	314	0.0064	-149	c.20 others(11): Show c.2063_*2211del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1942		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806995	CCCCTCAG others(142): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	314	0.0032	-149	c.28 others(11): Show c.2830_*2978del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2709		chr2	TogoVar
IL3RA_chrX_1331785_1387689	1365794	TGAGCCGG others(142): Show TGAGCCGGGTGCCCCGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGC GGGGTGAGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGT GAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCGGGGTGAGCGGGGTGCGGG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0100	1	115	0.0087	-149	c.874 others(15): Show c.874+544_874+692del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IMPA1_chr8_81651914_81691325	81685052	ATACATAA others(142): Show ATACATAAGTATATTTAGATATATATACTATAAATAAGTATATTTAGATA CTATATATAGTATACATTAAGTATATTTAGATACTATATATAGTATATAT ACTATACATAAGTATATTTAGATACTATATATACTATACATAAGTATATT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02109.hp2 HG02615.hp1 others(2): Show HG01069.hp2 HG02109.hp2 HG02615.hp1 HG02630.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0040 a0001c0001t0011g0241 a0001c0001t0011g0242 others(1): Show a0001c0001t0011g0040 a0001c0001t0011g0241 a0001c0001t0011g0242 a0001c0001t0011g0243	5	380	0.0132	-149	c.-25 others(17): Show c.-25+1051_-25+1199del	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
INPP5D_chr2_233055342_233212903	233199159	GCCCAGGA others(142): Show GCCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCA GCCTGGGCAACAGAACGAGACTCCATAAAAATGCCAGGTGTGGTGGTGCA TGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03654.hp2 HG03710.hp1 HG01433.hp2 HG03654.hp2 HG03710.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0223 a0001c0004t0008g0234 a0001c0004t0008g0239 a0001c0004t0008g0223 a0001c0004t0008g0234 a0001c0004t0008g0239	3	310	0.0097	-149	c.297 others(17): Show c.2975+829_2975+977del	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5D_chr2_233055342_233212903	233199205	TCCAGCCT others(142): Show TCCAGCCTGGGCAACAGAACGAGACTCCATAAAAATGCCAGGTGTGGTGG TGCATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCT TGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01168.hp1 others(47): Show HG00099.hp2 HG00735.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01975.hp1 HG02080.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02683.hp1 HG02698.hp2 HG02970.hp2 HG03017.hp1 HG03195.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18982.hp2 NA18995.hp2 NA18998.hp1 NA19011.hp2 NA19030.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19087.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0015 a0001c0019 a0002c0002 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0015t0001 a0001c0019t0001 a0002c0002t0003 a0002c0008t0003	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0040 others(47): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0002g0178 a0001c0001t0002g0255 a0001c0001t0002g0262 a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0005g0024 a0001c0001t0008g0249 a0001c0003t0002g0193 a0001c0004t0001g0017 a0001c0004t0001g0096 a0001c0004t0002g0183 a0001c0004t0002g0212 a0001c0004t0002g0219 a0001c0004t0002g0235 a0001c0004t0002g0240 a0001c0004t0002g0271 a0001c0004t0002g0299 a0001c0004t0002g0301 a0001c0005t0001g0033 a0001c0005t0002g0152 a0001c0005t0002g0208 a0001c0005t0002g0310 a0001c0005t0007g0199 a0001c0006t0001g0019 a0001c0006t0001g0109 a0001c0006t0001g0110 a0001c0006t0001g0126 a0001c0006t0001g0142 a0001c0006t0001g0145 a0001c0006t0002g0156 a0001c0006t0002g0157 a0001c0006t0002g0220 a0001c0006t0002g0229 a0001c0006t0002g0230 a0001c0006t0002g0296 a0001c0015t0001g0103 a0001c0019t0001g0020 a0002c0002t0003g0187 a0002c0002t0003g0202 a0002c0008t0003g0148 a0002c0008t0003g0188 a0002c0008t0003g0192	50	310	0.1613	-149	c.297 others(17): Show c.2975+841_2975+989del	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INSC_chr11_15109923_15252208	15229861	CAGCCTGG others(142): Show CAGCCTGGGCAACGTGGCAAAATCCTATCTCTATAAAAAACATTTTTATA TATATATAAATTTTTTATATATTATATATATATAATATTATATATATATT TATATATATATATATATATTATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0015 a0004c0008t0015	a0004c0008t0015g0033 a0004c0008t0015g0034 a0004c0008t0015g0033 a0004c0008t0015g0034	2	270	0.0074	-149	c.117 others(19): Show c.1170+4035_1170+4183del	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
IQCG_chr3_197884077_197964991	197941190	TCCTCTGT others(142): Show TCCTCTGTCTCTTTCTTTCCCTTCCTTCCTCCCTCCCTTCCCTTCCCTCT CCCTGCCCTCCCTTCCCCCTCCCTCCCTTCCTACCTTCCTCTCTTCCTTT CTTTCTTTTCCTCCCTCCTTCCCTTTCTTCCTTCCTTCCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0096 a0008c0011t0001g0096	1	280	0.0036	-149	c.282 others(17): Show c.282+2439_283-2411del	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	4/11			chr3	TogoVar
KIF25_chr6_167992671_168050091	167997184	GGGGGCGG others(142): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0078 a0001c0001t0014g0078	1	375	0.0027	-149	c.-22 others(11): Show c.-2284_-2136del	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		486		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997208	GGGGGGCG others(142): Show GGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAG GTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02622.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0159 a0001c0001t0012g0160 a0001c0001t0012g0159 a0001c0001t0012g0160	2	375	0.0053	-149	c.-22 others(11): Show c.-2260_-2112del	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
KLHL17_chr1_955584_970719	964625	GGGGCGCG others(142): Show GGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTC CGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGAT GTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGA	G G	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	432	0.0023	-149	c.170 others(16): Show c.1700+99_1701-186del	KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
LIPG_chr18_49557057_49604185	49579050	GGGAGAGG others(142): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02976.hp2 others(3): Show HG02055.hp2 HG02109.hp1 HG02976.hp2 HG03130.hp2 NA18906.hp1 NA20300.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0016 a0003c0004t0080 a0003c0004t0016 a0003c0004t0080	a0003c0004t0016g0145 a0003c0004t0016g0146 a0003c0004t0016g0148 others(3): Show a0003c0004t0016g0145 a0003c0004t0016g0146 a0003c0004t0016g0148 a0003c0004t0016g0166 a0003c0004t0016g0167 a0003c0004t0080g0147	6	384	0.0156	-149	c.794 others(17): Show c.794-2362_794-2214del	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LOC128462377_chr16_89312046_89423292	89421266	GGGGGTGA others(142): Show GGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGATGGGA CCATCACCCGTCCATGTCTGGGGGTGGGGGTGAGACACGAAGGGTCGGTG TGTGATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCTGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0145 a0001c0001t0000g0145	1	366	0.0027	-149	c.-31 others(11): Show c.-3123_-2975del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding		2975		chr16	TogoVar

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Search Results (Total: 10000 hits)