Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KCNH8_chr3_19143510_19540642	19308687	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	134	0.0075	-34	c.442 others(53): Show c.442+27366_442+27399delTCTCTCTCTCTCTCTCTCTCTCTCCC CCTCTCTC	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19472195	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	134	0.0075	-34	c.204 others(55): Show c.2040+15232_2040+15265delGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP1_chr5_170499020_170741632	170597784	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02896.hp1 HG02615.hp2 HG02723.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0024 a0001c0001t0002 a0001c0001t0017 a0001c0001t0024	a0001c0001t0002g0056 a0001c0001t0017g0078 a0001c0001t0024g0195 a0001c0001t0002g0056 a0001c0001t0017g0078 a0001c0001t0024g0195	3	218	0.0138	-34	c.61+ others(51): Show c.61+93164_61+93197delATATATATATATATATATATATATATAT ATATAT	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP4_chr4_20723606_21953772	20916985	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp1 HG02486.hp1 others(3): Show HG01433.hp2 HG02145.hp1 HG02486.hp1 HG02572.hp1 HG02809.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0005 a0001c0001t0002g0035 a0001c0001t0011g0003 others(3): Show a0001c0001t0001g0005 a0001c0001t0002g0035 a0001c0001t0011g0003 a0001c0002t0001g0040 a0001c0002t0001g0065 a0001c0002t0006g0053	6	80	0.0750	-34	c.62- others(51): Show c.62-34310_62-34277delTATATATATATATATATATATATATATA TATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21714786	ATTATTTT others(27): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02257.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0003 a0001c0001t0004 a0001c0003t0003	a0001c0001t0004g0067 a0001c0003t0003g0029 a0001c0001t0004g0067 a0001c0003t0003g0029	2	80	0.0250	-34	c.61+ others(53): Show c.61+233751_61+233784delATAAAATAAAATAAAATAAAATAAAA TAAAATAA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ12_chr17_21371357_21424870	21380781	AGCAGTGG others(27): Show AGCAGTGGGCCCCAGATGGCAGTGGGCCCCAGATG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0343 a0001c0001t0003g0343	1	376	0.0027	-34	c.-17 others(53): Show c.-179+3917_-179+3950delATGGCAGTGGGCCCCAGATGGCAGTG GGCCCCAG	KCNJ12	ENSG00000184185.10	transcript	ENST00000583088.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCNJ3_chr2_154693695_154863354	154861397	ATATGTTT others(27): Show ATATGTTTCTATAAAATATGTTATATATAACATGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0004 a0001c0003t0008g0004	1	284	0.0035	-34	c.60 others(45): Show c.6085_*6118delTATGTTTCTATAAAATATGTTATATATAACATGC	KCNJ3	ENSG00000162989.5	transcript	ENST00000295101.3	protein_coding		3044		chr2	TogoVar
KCNJ6_chr21_37602373_37921457	37655214	TGTGTGTG others(27): Show TGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA20129.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0163 a0001c0001t0164 a0001c0001t0163 a0001c0001t0164	a0001c0001t0163g0056 a0001c0001t0164g0171 a0001c0001t0163g0056 a0001c0001t0164g0171	2	198	0.0101	-34	c.947 others(53): Show c.947-29764_947-29731delTCTCTCTCTCTCTCTCTCTCTCTCAC ACACACAC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNMB2_chr3_178531436_178849429	178568797	AGATAGAT others(27): Show AGATAGATAGATAGATAGATAATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	232	0.0043	-34	c.-68 others(53): Show c.-68+32107_-68+32140delATAGATAGATAGATGATAGATAGATA GATAGATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178760092	CTATATAT others(27): Show CTATATATATATATATATCCAAGAGGATATATCTA	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18979.hp2 NA18941.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0076 a0001c0001t0003g0155 a0001c0001t0002g0076 a0001c0001t0003g0155	2	232	0.0086	-34	c.-67 others(53): Show c.-67-47235_-67-47202delATCCAAGAGGATATATCTATATATAT ATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178760124	CTATATAT others(27): Show CTATATATATATATATATCCAAGAGGATATATCTA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01517.hp2 HG03225.hp1 HG01255.hp1 HG01517.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0094 a0001c0001t0002g0118 a0001c0001t0004g0136 a0001c0001t0002g0094 a0001c0001t0002g0118 a0001c0001t0004g0136	3	232	0.0129	-34	c.-67 others(53): Show c.-67-47203_-67-47170delATCCAAGAGGATATATCTATATATAT ATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178760370	GATATATA others(27): Show GATATATATATTATATATATATCCATATCCAAGAT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02572.hp1 others(2): Show HG02257.hp2 HG02258.hp2 HG02572.hp1 HG02717.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0040 a0001c0001t0002g0091 others(2): Show a0001c0001t0002g0004 a0001c0001t0002g0040 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0214	5	232	0.0216	-34	c.-67 others(53): Show c.-67-46964_-67-46931delATTATATATATATCCATATCCAAGAT ATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN2_chr5_114357070_114501496	114379748	CATATTAT others(27): Show CATATTATATATTTATAGAATATATTATATAACAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01256.hp1 HG01257.hp2 others(6): Show HG00280.hp2 HG01256.hp1 HG01257.hp2 HG02055.hp2 HG02280.hp2 HG02602.hp2 HG02723.hp1 HG03209.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 others(6): Show a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0210	9	250	0.0360	-34	c.121 others(55): Show c.1218+15752_1218+15785delTATATATTTATAGAATATATTATA TAACATATAT	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNQ1_chr11_2440008_2854105	2752236	GTGATCTG others(27): Show GTGATCTGAACCCAGCTGAGTGGCTTCCATGGAGC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	208	0.0048	-34	c.151 others(55): Show c.1515-16559_1515-16526delCTGAGTGGCTTCCATGGAGCTGAT CTGAACCCAG	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2752285	CTGAGTGG others(27): Show CTGAGTGGCTTCCATGGAGCTGATCTGAACCCAGT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	208	0.0048	-34	c.151 others(55): Show c.1515-16543_1515-16510delGAGCTGATCTGAACCCAGTTGAGT GGCTTCCATG	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ2_chr20_63395208_63477655	63455858	CTGCTCAC others(27): Show CTGCTCACGGGCCCCCCACCTCCGGGAGACCCCTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02129.hp1 others(11): Show HG01109.hp2 HG01891.hp1 HG02129.hp1 HG02258.hp2 HG02630.hp1 HG02886.hp1 HG02976.hp1 HG03017.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp2 HG04228.hp2 HG06807.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0004 a0001c0007 a0001c0020 others(2): Show a0001c0004 a0001c0007 a0001c0020 a0002c0001 a0006c0025	a0001c0004t0004 a0001c0004t0035 a0001c0007t0007 others(7): Show a0001c0004t0004 a0001c0004t0035 a0001c0007t0007 a0001c0007t0044 a0001c0020t0012 a0002c0001t0020 a0002c0001t0049 a0002c0001t0057 a0002c0001t0058 a0006c0025t0086	a0001c0004t0004g0198 a0001c0004t0004g0199 a0001c0004t0004g0200 others(11): Show a0001c0004t0004g0198 a0001c0004t0004g0199 a0001c0004t0004g0200 a0001c0004t0004g0202 a0001c0004t0035g0206 a0001c0007t0007g0232 a0001c0007t0044g0224 a0001c0020t0012g0203 a0002c0001t0020g0205 a0002c0001t0020g0207 a0002c0001t0049g0223 a0002c0001t0057g0197 a0002c0001t0058g0204 a0006c0025t0086g0201	14	330	0.0424	-34	c.297 others(51): Show c.297-9055_297-9022delCAGGGGTCTCCCGGAGGTGGGGGGCCCG TGAGCA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63455892	GTGCTCAC others(27): Show GTGCTCACGGGCCCCCCACCTCCGGGAGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG01081.hp2 others(32): Show HG00099.hp2 HG00408.hp2 HG01081.hp2 HG01255.hp2 HG01358.hp2 HG01517.hp1 HG02056.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03471.hp1 HG03540.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18964.hp2 NA19030.hp1 NA19043.hp1 NA19068.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0008 others(4): Show a0001c0002 a0001c0004 a0001c0008 a0001c0012 a0001c0017 a0001c0020 a0002c0001	a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 others(28): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0012 a0001c0002t0022 a0001c0002t0034 a0001c0002t0068 a0001c0002t0071 a0001c0002t0078 a0001c0002t0080 a0001c0002t0083 a0001c0002t0084 a0001c0002t0085 a0001c0002t0092 a0001c0002t0096 a0001c0004t0004 a0001c0004t0089 a0001c0004t0110 a0001c0008t0007 a0001c0012t0052 a0001c0012t0082 a0001c0012t0095 a0001c0012t0109 a0001c0017t0050 a0001c0020t0012 a0002c0001t0005 a0002c0001t0006 a0002c0001t0009 a0002c0001t0020 a0002c0001t0059 a0002c0001t0065	a0001c0002t0002g0047 a0001c0002t0005g0045 a0001c0002t0009g0044 others(32): Show a0001c0002t0002g0047 a0001c0002t0005g0045 a0001c0002t0009g0044 a0001c0002t0012g0028 a0001c0002t0012g0029 a0001c0002t0012g0037 a0001c0002t0022g0052 a0001c0002t0034g0040 a0001c0002t0034g0256 a0001c0002t0068g0033 a0001c0002t0071g0046 a0001c0002t0078g0246 a0001c0002t0080g0236 a0001c0002t0083g0041 a0001c0002t0084g0254 a0001c0002t0085g0050 a0001c0002t0092g0049 a0001c0002t0096g0039 a0001c0004t0004g0051 a0001c0004t0089g0057 a0001c0004t0110g0324 a0001c0008t0007g0048 a0001c0012t0052g0043 a0001c0012t0082g0034 a0001c0012t0095g0237 a0001c0012t0109g0323 a0001c0017t0050g0053 a0001c0020t0012g0056 a0002c0001t0005g0036 a0002c0001t0005g0054 a0002c0001t0006g0038 a0002c0001t0009g0055 a0002c0001t0020g0245 a0002c0001t0059g0042 a0002c0001t0065g0035	35	330	0.1061	-34	c.297 others(51): Show c.297-9089_297-9056delGAGGGGCCTCCCGGAGGTGGGGGGCCCG TGAGCA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63456068	TCACGGGC others(27): Show TCACGGGCCCCCCACCTCCGGGAGGCCCCTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG01175.hp1 others(8): Show HG00642.hp2 HG01099.hp2 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01934.hp2 HG02486.hp1 NA19030.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0011 a0001c0002 a0002c0001 a0002c0011	a0001c0002t0025 a0002c0001t0005 a0002c0001t0021 others(2): Show a0001c0002t0025 a0002c0001t0005 a0002c0001t0021 a0002c0001t0066 a0002c0011t0018	a0001c0002t0025g0211 a0002c0001t0005g0212 a0002c0001t0005g0213 others(7): Show a0001c0002t0025g0211 a0002c0001t0005g0212 a0002c0001t0005g0213 a0002c0001t0005g0214 a0002c0001t0021g0218 a0002c0001t0021g0219 a0002c0001t0066g0217 a0002c0011t0018g0005 a0002c0011t0018g0215 a0002c0011t0018g0216	11	330	0.0333	-34	c.297 others(51): Show c.297-9265_297-9232delGGCAGAGGGGCCTCCCGGAGGTGGGGGG CCCGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
KCNRG_chr13_50010444_50025922	50015084	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02965.hp2 HG01123.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	448	0.0045	-34	c.-40 others(43): Show c.-409_-376delAAAAAAAAAAATATATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		359		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015086	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01192.hp1 others(3): Show HG00738.hp2 HG01099.hp1 HG01192.hp1 HG02559.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0008 a0001c0001t0001g0010	6	448	0.0134	-34	c.-40 others(43): Show c.-407_-374delAAAAAAAAATATATATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		357		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015088	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	448	0.0022	-34	c.-40 others(43): Show c.-405_-372delAAAAAAATATATATATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		355		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015090	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	448	0.0022	-34	c.-40 others(43): Show c.-403_-370delAAAAATATATATATATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		353		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015092	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	448	0.0022	-34	c.-40 others(43): Show c.-401_-368delAAATATATATATATATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		351		chr13	TogoVar
KCNT2_chr1_196220779_196613440	196296315	CATACTTT others(27): Show CATACTTTTTTCAAAAAGAGTTAACAGTAATTTAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp1 HG02258.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0115 a0001c0001t0002g0116	2	136	0.0147	-34	c.259 others(53): Show c.2595+8885_2595+8918delTTAAATTACTGTTAACTCTTTTTGAA AAAAGTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	22/27			chr1	TogoVar
KCP_chr7_128871865_128915709	128894162	CCACCATG others(27): Show CCACCATGGTCAGGCCTCTGCCCTACCCACTGACT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp2 NA19030.hp2	a0044 a0044	a0044c0069 a0044c0069	a0044c0069t0002 a0044c0069t0002	a0044c0069t0002g0121 a0044c0069t0002g0121	1	372	0.0027	-34	c.925 others(46): Show c.925+4_925+37delAGTCAGTGGGTAGGGCAGAGGCCTGACCATGGT G	KCP	ENSG00000135253.16	transcript	ENST00000610776.5	protein_coding	9/39			chr7	TogoVar
KCTD13_chr16_29901339_29931226	29918882	ACTCCTGA others(27): Show ACTCCTGACCTTGTGATCCACCTGCCTCAGCCTCC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02572.hp2 others(1): Show HG02451.hp1 HG02572.hp1 HG02572.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(1): Show a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054	4	358	0.0112	-34	c.414 others(51): Show c.414+4274_414+4307delGGAGGCTGAGGCAGGTGGATCACAAGGT CAGGAG	KCTD13	ENSG00000174943.11	transcript	ENST00000568000.6	protein_coding	2/5			chr16	TogoVar
KCTD16_chr5_144165873_144490686	144304171	ACTTATTT others(27): Show ACTTATTTTAGATAGAATAAAAAAAGACCAGGGTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	156	0.0064	-34	c.832 others(53): Show c.832+96626_832+96659delCTTATTTTAGATAGAATAAAAAAAGA CCAGGGTG	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3			chr5	TogoVar
KDM1A_chr1_23014468_23088689	23017175	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	352	0.0028	-34	c.-24 others(45): Show c.-2421_-2388delTTTATATATATATATATATATATATATATATATA	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding		2292		chr1	TogoVar
KDM1A_chr1_23014468_23088689	23017177	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01106.hp2 others(30): Show HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03471.hp2 NA18522.hp2 NA18906.hp1 NA18969.hp1 NA18978.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19082.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0004 a0001c0008t0004	a0001c0001t0002g0011 a0001c0001t0002g0182 a0001c0001t0002g0198 others(25): Show a0001c0001t0002g0011 a0001c0001t0002g0182 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0003g0006 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0162 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0002t0004g0003 a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0046 a0001c0002t0004g0233 a0001c0008t0004g0045	33	352	0.0938	-34	c.-24 others(45): Show c.-2419_-2386delTATATATATATATATATATATATATATATATATA	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding		2290		chr1	TogoVar
KDM1B_chr6_18150422_18228854	18155122	TCCGCGCC others(27): Show TCCGCGCCCCGCCTCCGCCCGCGCCCCGCCTCCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(171): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0013 a0001c0016 a0002c0008 a0002c0012 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0002t0001 a0001c0002t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0010 a0001c0003t0011 a0001c0003t0016 a0001c0003t0018 a0001c0003t0023 a0001c0003t0028 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0009 a0001c0005t0001 a0001c0005t0005 a0001c0007t0001 a0001c0009t0001 a0001c0013t0002 a0001c0016t0001 a0002c0008t0002 a0002c0008t0019 a0002c0012t0004 a0004c0014t0001	a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0149 others(171): Show a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0266 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0003g0021 a0001c0001t0003g0155 a0001c0001t0003g0188 a0001c0001t0003g0192 a0001c0001t0004g0024 a0001c0001t0004g0063 a0001c0001t0004g0175 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0201 a0001c0001t0006g0056 a0001c0001t0006g0059 a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0007g0148 a0001c0001t0013g0198 a0001c0001t0014g0209 a0001c0001t0017g0058 a0001c0001t0024g0200 a0001c0001t0026g0150 a0001c0002t0001g0215 a0001c0002t0001g0267 a0001c0002t0001g0313 a0001c0002t0010g0343 a0001c0003t0001g0004 a0001c0003t0001g0012 a0001c0003t0001g0060 a0001c0003t0001g0074 a0001c0003t0001g0081 a0001c0003t0001g0088 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0100 a0001c0003t0001g0106 a0001c0003t0001g0108 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0113 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0129 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0208 a0001c0003t0002g0072 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0080 a0001c0003t0002g0084 a0001c0003t0002g0087 a0001c0003t0002g0098 a0001c0003t0002g0102 a0001c0003t0002g0123 a0001c0003t0002g0124 a0001c0003t0002g0139 a0001c0003t0002g0161 a0001c0003t0003g0011 a0001c0003t0003g0014 a0001c0003t0003g0071 a0001c0003t0003g0085 a0001c0003t0003g0089 a0001c0003t0003g0101 a0001c0003t0003g0114 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0142 a0001c0003t0004g0079 a0001c0003t0004g0082 a0001c0003t0004g0122 a0001c0003t0004g0174 a0001c0003t0005g0075 a0001c0003t0005g0107 a0001c0003t0007g0118 a0001c0003t0010g0017 a0001c0003t0011g0005 a0001c0003t0011g0006 a0001c0003t0011g0086 a0001c0003t0016g0099 a0001c0003t0018g0007 a0001c0003t0023g0134 a0001c0003t0028g0073 a0001c0004t0001g0179 a0001c0004t0001g0197 a0001c0004t0002g0064 a0001c0004t0002g0151 a0001c0004t0002g0152 a0001c0004t0002g0153 a0001c0004t0002g0158 a0001c0004t0003g0171 a0001c0004t0009g0164 a0001c0005t0001g0009 a0001c0005t0001g0013 a0001c0005t0001g0015 a0001c0005t0001g0094 a0001c0005t0001g0103 a0001c0005t0001g0109 a0001c0005t0001g0117 a0001c0005t0005g0016 a0001c0007t0001g0207 a0001c0009t0001g0170 a0001c0009t0001g0172 a0001c0009t0001g0182 a0001c0009t0001g0190 a0001c0013t0002g0147 a0001c0013t0002g0154 a0001c0016t0001g0253 a0002c0008t0002g0076 a0002c0008t0002g0083 a0002c0008t0002g0112 a0002c0008t0002g0135 a0002c0008t0019g0008 a0002c0012t0004g0196 a0004c0014t0001g0104 a0004c0014t0001g0105	174	392	0.4439	-34	c.-50 others(43): Show c.-506_-473delCCGCGCCCCGCCTCCGCCCGCGCCCCGCCTCCGC	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding		299		chr6	TogoVar
KDM2A_chr11_67114263_67263082	67247037	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02622.hp2 others(4): Show HG02257.hp2 HG02258.hp2 HG02622.hp2 HG02897.hp2 HG03195.hp1 HG03453.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0075 a0001c0001t0001g0076 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0101 a0001c0001t0001g0105	7	220	0.0318	-34	c.196 others(51): Show c.1965+923_1965+956delATATATATATATATATATATATATATAT ATATAT	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM4C_chr9_6752973_7180648	7104966	GTACAAAA others(27): Show GTACAAAATGATGTCACCAACTGTCACATCTATTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00621.hp1 others(23): Show HG00408.hp2 HG00609.hp1 HG00621.hp1 HG00735.hp1 HG01123.hp1 HG01169.hp1 HG02071.hp2 HG03669.hp2 HG03942.hp1 NA18943.hp2 NA18947.hp2 NA18950.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18983.hp2 NA18989.hp1 NA19010.hp1 NA19054.hp1 NA19070.hp1 NA19087.hp2 NA19088.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0012 a0018 a0024 a0025	a0001c0001 a0002c0003 a0003c0004 others(10): Show a0001c0001 a0002c0003 a0003c0004 a0004c0006 a0005c0011 a0005c0012 a0006c0009 a0007c0017 a0007c0020 a0012c0013 a0018c0030 a0024c0039 a0025c0040	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 a0004c0006t0001 a0005c0011t0001 a0005c0012t0001 a0006c0009t0001 a0007c0017t0002 a0007c0020t0001 a0012c0013t0003 a0018c0030t0001 a0024c0039t0001 a0025c0040t0001	a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0075 others(23): Show a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0249 a0001c0001t0002g0170 a0001c0001t0002g0214 a0002c0003t0001g0057 a0002c0003t0001g0061 a0002c0003t0001g0072 a0002c0003t0001g0095 a0002c0003t0002g0035 a0002c0003t0002g0049 a0003c0004t0001g0056 a0004c0006t0001g0102 a0005c0011t0001g0058 a0005c0012t0001g0039 a0006c0009t0001g0107 a0007c0017t0002g0231 a0007c0020t0001g0173 a0012c0013t0003g0255 a0018c0030t0001g0153 a0018c0030t0001g0154 a0024c0039t0001g0040 a0025c0040t0001g0172	26	266	0.0977	-34	c.261 others(53): Show c.2610+1099_2610+1132delCAAAATGATGTCACCAACTGTCACAT CTATTTTA	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM5C_chrX_53187158_53230207	53208400	CATATATA others(27): Show CATATATATACACATACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	241	0.0042	-34	c.174 others(53): Show c.1746+1980_1746+2013delATATATATATATATATATGTATGTGT ATATATAT	KDM5C	ENSG00000126012.13	transcript	ENST00000375401.8	protein_coding	12/25			chrX	TogoVar
KHDRBS2_chr6_61674961_62291225	61848532	CATATATA others(27): Show CATATATATGTATATATATACATATATATATGTAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0130 a0001c0004t0001g0130	1	244	0.0041	-34	c.810 others(53): Show c.810+46069_810+46102delATACATATATATATGTATATATATAC ATATATAT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	6/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61955461	TATGTGTA others(27): Show TATGTGTATATATACACATATGTATGTATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp2 HG02132.hp1 others(11): Show HG00280.hp2 HG01175.hp2 HG02132.hp1 HG02735.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03831.hp1 HG04199.hp1 HG04204.hp2 NA18951.hp1 NA18966.hp1 NA19007.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0005 a0001c0001t0008 a0001c0003t0004 others(2): Show a0001c0001t0005 a0001c0001t0008 a0001c0003t0004 a0001c0004t0005 a0002c0005t0005	a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0017 others(11): Show a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0060 a0001c0001t0008g0189 a0001c0001t0008g0194 a0001c0001t0008g0206 a0001c0001t0008g0220 a0001c0003t0004g0221 a0001c0004t0005g0164 a0002c0005t0005g0009 a0002c0005t0005g0070	14	244	0.0574	-34	c.483 others(53): Show c.483+22571_483+22604delGTATACATACATACATATGTGTATAT ATACACAT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KHDRBS3_chr8_135452456_135652610	135599897	ACACAGCA others(27): Show ACACAGCACCAAGCAGCAGTGGCAGGCACCTCCCT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	342	0.0029	-34	c.808 others(51): Show c.808-7047_808-7014delAGCAGCAGTGGCAGGCACCTCCCTCACA GCACCA	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KHDRBS3_chr8_135452456_135652610	135600031	CCTCACAG others(27): Show CCTCACAGCACCAGGCAGCAGTGGCAGGCACCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(149): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18985.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0002c0003t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 others(148): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0073 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0300 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0337 a0001c0001t0002g0160 a0001c0001t0002g0191 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0085 a0001c0001t0005g0033 a0001c0001t0005g0130 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0007g0125 a0001c0001t0007g0132 a0001c0001t0009g0168 a0002c0003t0002g0290	152	342	0.4444	-34	c.808 others(51): Show c.808-6890_808-6857delTCTCACAGCACCAGGCAGCAGTGGCAGG CACCTC	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KIAA0930_chr22_45187244_45245894	45229256	ACTCACTT others(27): Show ACTCACTTGAGAGATCCCTCTCCACCCCCGCCATC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00609.hp1 others(5): Show HG00558.hp2 HG00597.hp1 HG00609.hp1 HG02145.hp2 HG02717.hp1 HG02818.hp2 HG03540.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0001c0001t0044 a0001c0001t0052 a0001c0003t0036	a0001c0001t0001g0315 a0001c0001t0003g0195 a0001c0001t0003g0367 others(5): Show a0001c0001t0001g0315 a0001c0001t0003g0195 a0001c0001t0003g0367 a0001c0001t0025g0086 a0001c0001t0025g0087 a0001c0001t0044g0014 a0001c0001t0052g0194 a0001c0003t0036g0305	8	398	0.0201	-34	c.64+ others(51): Show c.64+11350_64+11383delGATGGCGGGGGTGGAGAGGGATCTCTCA AGTGAG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1217_chr10_24204138_24552843	24538594	AAGGAAGG others(27): Show AAGGAAGGAAGGAAAAAGAGAGGAAGGAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01975.hp2 HG03471.hp2 others(8): Show HG00408.hp1 HG01975.hp2 HG03471.hp2 HG04115.hp2 HG04184.hp2 NA18747.hp1 NA18747.hp2 NA18969.hp2 NA18979.hp2 NA19011.hp1 NA19012.hp1	a0001 a0009 a0013 others(1): Show a0001 a0009 a0013 a0021	a0001c0013 a0001c0014 a0001c0062 others(5): Show a0001c0013 a0001c0014 a0001c0062 a0001c0065 a0001c0082 a0009c0038 a0013c0066 a0021c0078	a0001c0013t0005 a0001c0014t0002 a0001c0062t0005 others(5): Show a0001c0013t0005 a0001c0014t0002 a0001c0062t0005 a0001c0065t0005 a0001c0082t0006 a0009c0038t0003 a0013c0066t0001 a0021c0078t0003	a0001c0013t0005g0008 a0001c0013t0005g0057 a0001c0013t0005g0182 others(8): Show a0001c0013t0005g0008 a0001c0013t0005g0057 a0001c0013t0005g0182 a0001c0014t0002g0174 a0001c0014t0002g0227 a0001c0062t0005g0146 a0001c0065t0005g0181 a0001c0082t0006g0070 a0009c0038t0003g0119 a0013c0066t0001g0173 a0021c0078t0003g0113	11	240	0.0458	-34	c.353 others(53): Show c.3534+1711_3534+1744delGGAAAAAGAGAGGAAGGAAAAAGAGA GGAAGGAA	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1549L_chr11_33371108_33679102	33530426	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0071 a0001c0044t0001g0071	1	226	0.0044	-34	c.239 others(53): Show c.239-11374_239-11341delAAAAAAAAAATATATATATATATATA TATATATA	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33614531	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0004 a0001c0008t0003g0004	1	226	0.0044	-34	c.528 others(53): Show c.5280-3981_5280-3948delATATATATATATATATATATATATAT ATATATAT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33614558	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0007 a0001c0014t0007	a0001c0014t0007g0208 a0001c0014t0007g0208	1	226	0.0044	-34	c.528 others(53): Show c.5280-3973_5280-3940delATATATATATATATATATATATATAT TTTTTTTT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33641572	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG02723.hp2 others(6): Show HG02055.hp1 HG02630.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02970.hp2 HG03471.hp2 HG06807.hp1 NA19011.hp1	a0001 a0009 a0013 others(1): Show a0001 a0009 a0013 a0017	a0001c0004 a0001c0005 a0001c0011 others(6): Show a0001c0004 a0001c0005 a0001c0011 a0001c0014 a0001c0024 a0001c0046 a0009c0038 a0013c0079 a0017c0043	a0001c0004t0007 a0001c0005t0023 a0001c0011t0064 others(6): Show a0001c0004t0007 a0001c0005t0023 a0001c0011t0064 a0001c0014t0047 a0001c0024t0019 a0001c0046t0001 a0009c0038t0001 a0013c0079t0019 a0017c0043t0019	a0001c0004t0007g0174 a0001c0005t0023g0136 a0001c0011t0064g0080 others(6): Show a0001c0004t0007g0174 a0001c0005t0023g0136 a0001c0011t0064g0080 a0001c0014t0047g0201 a0001c0024t0019g0108 a0001c0046t0001g0098 a0009c0038t0001g0076 a0013c0079t0019g0011 a0017c0043t0019g0089	9	226	0.0398	-34	c.541 others(53): Show c.5410-4085_5410-4052delTATATATATATATATATATATATATA TATATATA	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549_chr7_138826381_138986389	138903792	AGTGTGTG others(27): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02257.hp2 HG02896.hp1 others(4): Show HG00733.hp2 HG02257.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03579.hp1 NA18522.hp2	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0007	a0002c0002 a0005c0050 a0006c0008 others(1): Show a0002c0002 a0005c0050 a0006c0008 a0007c0023	a0002c0002t0014 a0002c0002t0018 a0005c0050t0008 others(3): Show a0002c0002t0014 a0002c0002t0018 a0005c0050t0008 a0006c0008t0075 a0007c0023t0007 a0007c0023t0069	a0002c0002t0014g0182 a0002c0002t0018g0002 a0005c0050t0008g0062 others(3): Show a0002c0002t0014g0182 a0002c0002t0018g0002 a0005c0050t0008g0062 a0006c0008t0075g0022 a0007c0023t0007g0199 a0007c0023t0069g0174	7	204	0.0343	-34	c.352 others(49): Show c.3521-90_3521-57delACACACACACACACACACACACACACACAC ACAC	KIAA1549	ENSG00000122778.10	transcript	ENST00000422774.2	protein_coding	7/19			chr7	TogoVar
KIAA1671_chr22_24947716_25202448	25093705	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03225.hp1 NA18906.hp1 HG03195.hp2 HG03225.hp1 NA18906.hp1	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0089 a0005c0018 a0013c0116 a0001c0089 a0005c0018 a0013c0116	a0001c0089t0007 a0005c0018t0004 a0013c0116t0032 a0001c0089t0007 a0005c0018t0004 a0013c0116t0032	a0001c0089t0007g0232 a0005c0018t0004g0061 a0013c0116t0032g0164 a0001c0089t0007g0232 a0005c0018t0004g0061 a0013c0116t0032g0164	3	254	0.0118	-34	c.453 others(55): Show c.4530+44343_4530+44376delACACACACACACACACACACACAC ACACACACTC	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIDINS220_chr2_8723858_8842613	8744377	AAAAAAAA others(27): Show AAAAAAAAAAAAATATATATATATAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	334	0.0030	-34	c.358 others(53): Show c.3585+2734_3585+2767delATATATATATTATATATATATATTTT TTTTTTTT	KIDINS220	ENSG00000134313.17	transcript	ENST00000256707.8	protein_coding	26/29			chr2	TogoVar
KIDINS220_chr2_8723858_8842613	8744381	AAAAAAAA others(27): Show AAAAAAAAATATATATATATAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0306 a0002c0002t0001g0306	1	334	0.0030	-34	c.358 others(53): Show c.3585+2730_3585+2763delATATATATATATATTATATATATATA TTTTTTTT	KIDINS220	ENSG00000134313.17	transcript	ENST00000256707.8	protein_coding	26/29			chr2	TogoVar
KIDINS220_chr2_8723858_8842613	8744385	AAAAATAT others(27): Show AAAAATATATATATATAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	334	0.0030	-34	c.358 others(53): Show c.3585+2726_3585+2759delATATATATATATATATATTATATATA TATATTTT	KIDINS220	ENSG00000134313.17	transcript	ENST00000256707.8	protein_coding	26/29			chr2	TogoVar
KIDINS220_chr2_8723858_8842613	8744389	ATATATAT others(27): Show ATATATATATATAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0103 a0001c0005t0004g0103	1	334	0.0030	-34	c.358 others(53): Show c.3585+2722_3585+2755delATATATATATATATATATATATTATA TATATATA	KIDINS220	ENSG00000134313.17	transcript	ENST00000256707.8	protein_coding	26/29			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786707	AGGACCCC others(27): Show AGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCT	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0319 a0001c0001t0005g0319	1	330	0.0030	-34	c.430 others(49): Show c.430-228_430-195delAGCAGGCAGCCCCCACCCCCTCACTCAGGG GTCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar

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