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
ITPR2_chr12_26330352_26838194	26782019	TATATATA others(29): Show TATATATATATATATGTATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0118 a0001c0004t0010g0118	1	142	0.0070	-36	c.163 others(53): Show c.163+8102_163+8137delCTCTCTCTCTCTCTCTCTATACATATAT ATATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26784283	CCCTCTCC others(29): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0067 a0001c0044t0001g0067	1	142	0.0070	-36	c.163 others(53): Show c.163+5838_163+5873delCAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGG	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITSN1_chr21_33637501_33904861	33690779	ATATATAT others(29): Show ATATATATATACATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0067 a0001c0001t0045g0067	1	242	0.0041	-36	c.-32 others(55): Show c.-32-28007_-32-27972delCATATATATATATATATATATATATG TATATATATA	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
IVD_chr15_40400795_40426308	40401812	GATTACAG others(29): Show GATTACAGGCGTGAGCCACCGCGCCCGGCCTATACCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	378	0.0027	-36	c.-40 others(47): Show c.-4015_-3980delATTACAGGCGTGAGCCACCGCGCCCGGCCTATAC CC	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		3982		chr15	TogoVar
IZUMO1R_chr11_94299580_94313146	94312149	CACCTTTA others(29): Show CACCTTTAGTCCCAGCTACTTGAGGGGCTGAGGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	458	0.0022	-36	c.44 others(47): Show c.4458_*4493delACCTTTAGTCCCAGCTACTTGAGGGGCTGAGGCA GG	IZUMO1R	ENSG00000183560.10	transcript	ENST00000687084.1	protein_coding		4004		chr11	TogoVar
JAKMIP1_chr4_6021199_6205549	6071254	ACCCCAGG others(29): Show ACCCCAGGCAGTGCAGACCTGAGACAGCTGGGCCTGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	233	0.0043	-36	c.130 others(55): Show c.1303-6282_1303-6247delCCAGGCCCAGCTGTCTCAGGTCTGCA CTGCCTGGGG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP3_chr10_132060946_132189858	132100799	GGCCGCGC others(29): Show GGCCGCGCTCCCCATTCTCTCTGCATGAGGAACCCCT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG01891.hp2 others(16): Show HG00423.hp2 HG00597.hp2 HG01891.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02523.hp2 HG02647.hp1 HG02717.hp1 HG03017.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp1 NA18944.hp2 NA18966.hp2 NA18983.hp1 NA18999.hp2 NA19004.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0042 a0002c0008 others(4): Show a0001c0001 a0001c0042 a0002c0008 a0003c0002 a0003c0018 a0004c0007 a0004c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0021 a0001c0042t0023 a0002c0008t0018 a0003c0002t0001 a0003c0002t0002 a0003c0018t0002 a0004c0007t0001 a0004c0007t0002 a0004c0043t0005	a0001c0001t0001g0116 a0001c0001t0002g0027 a0001c0001t0002g0105 others(16): Show a0001c0001t0001g0116 a0001c0001t0002g0027 a0001c0001t0002g0105 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0008g0142 a0001c0001t0021g0119 a0001c0042t0023g0126 a0002c0008t0018g0120 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0123 a0003c0002t0002g0111 a0003c0018t0002g0117 a0004c0007t0001g0108 a0004c0007t0001g0122 a0004c0007t0002g0121 a0004c0043t0005g0125	19	158	0.1203	-36	c.-13 others(55): Show c.-137-3860_-137-3825delATTCTCTCTGCATGAGGAACCCCTGC CGCGCTCCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180676	CGCGCGCG others(29): Show CGCGCGCGTGTGTGTGCGTGCGTGTGTGTGTGCGCGT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0026 a0002c0026t0026	a0002c0026t0026g0043 a0002c0026t0026g0043	1	158	0.0063	-36	c.11 others(57): Show c.1104-1679_*1104-1644delCGCGCGTGTGTGTGCGTGCGTGTG TGTGTGCGCGTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132181785	GCCCTCTG others(29): Show GCCCTCTGCCTCTGTCCCAGCGTGCCCTCACTCCCGC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG01884.hp1 others(9): Show HG01109.hp2 HG01361.hp1 HG01884.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp2 HG02717.hp1 HG03540.hp1 HG03654.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0015 a0001c0017 others(6): Show a0001c0001 a0001c0015 a0001c0017 a0002c0005 a0002c0016 a0003c0003 a0004c0024 a0004c0035 a0004c0043	a0001c0001t0005 a0001c0001t0006 a0001c0015t0005 others(8): Show a0001c0001t0005 a0001c0001t0006 a0001c0015t0005 a0001c0017t0005 a0002c0005t0005 a0002c0005t0019 a0002c0016t0006 a0003c0003t0005 a0004c0024t0006 a0004c0035t0005 a0004c0043t0005	a0001c0001t0005g0137 a0001c0001t0006g0006 a0001c0015t0005g0140 others(9): Show a0001c0001t0005g0137 a0001c0001t0006g0006 a0001c0015t0005g0140 a0001c0017t0005g0079 a0002c0005t0005g0130 a0002c0005t0019g0138 a0002c0016t0006g0052 a0002c0016t0006g0099 a0003c0003t0005g0072 a0004c0024t0006g0148 a0004c0035t0005g0020 a0004c0043t0005g0125	12	158	0.0760	-36	c.11 others(55): Show c.1104-543_*1104-508delACTCCCGCCCCTCTGCCTCTGTCCCA GCGTGCCCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JPH2_chr20_44101590_44192188	44134865	AATATATA others(29): Show AATATATATATTTATATATATATTAATATATATTTAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG01358.hp2 others(23): Show HG00423.hp1 HG00621.hp2 HG01358.hp2 HG02135.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG06807.hp2 NA18906.hp2 NA18961.hp1 NA18970.hp1 NA18999.hp2 NA19000.hp2 NA19030.hp2 NA19063.hp1 NA19065.hp2 NA19088.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0009c0026	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0004t0008 a0001c0004t0014 a0001c0004t0016 a0001c0004t0071 a0001c0006t0024 a0001c0007t0022 a0001c0011t0016 a0009c0026t0107	a0001c0001t0002g0086 a0001c0001t0003g0043 a0001c0001t0003g0083 others(23): Show a0001c0001t0002g0086 a0001c0001t0003g0043 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0004g0225 a0001c0001t0015g0135 a0001c0004t0008g0023 a0001c0004t0008g0027 a0001c0004t0008g0056 a0001c0004t0008g0077 a0001c0004t0008g0080 a0001c0004t0008g0088 a0001c0004t0008g0089 a0001c0004t0008g0090 a0001c0004t0008g0091 a0001c0004t0014g0232 a0001c0004t0014g0240 a0001c0004t0014g0273 a0001c0004t0014g0279 a0001c0004t0016g0127 a0001c0004t0071g0138 a0001c0006t0024g0081 a0001c0007t0022g0078 a0001c0011t0016g0100 a0009c0026t0107g0331	26	338	0.0769	-36	c.117 others(57): Show c.1170-16278_1170-16243delATAAATATATATTAATATATATAT AAATATATATAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87639618	TCCTGGCC others(29): Show TCCTGGCCTCCCTCCTGGCCTCCCGCCTGTCCTCCCG	T T	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18968.hp1 NA18990.hp2 NA18949.hp1 NA18968.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125	3	380	0.0079	-36	c.383 others(53): Show c.383-4635_383-4600delGCCTCCCTCCTGGCCTCCCGCCTGTCCT CCCGCCTG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
KALRN_chr3_124028369_124731325	124495955	GTGTATGT others(29): Show GTGTATGTATGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18522.hp2 HG01071.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0061 a0002c0053 a0001c0061 a0002c0053	a0001c0061t0001 a0002c0053t0004 a0001c0061t0001 a0002c0053t0004	a0001c0061t0001g0098 a0002c0053t0004g0094 a0001c0061t0001g0098 a0002c0053t0004g0094	2	116	0.0172	-36	c.483 others(53): Show c.4833-354_4833-319delGTATGTATGTATATATATATATATATAT ATATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	32/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	514178	TCCTCTCT others(29): Show TCCTCTCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTC	T T	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	254	0.0039	-36	c.-84 others(53): Show c.-84+9429_-84+9464delTCTCCCTCCCTTCCTCCCTCCCTCTCTC CCTCCCTC	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK4_chr1_62231165_62324434	62278320	TCTTCCTT others(29): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0170 a0002c0004t0001g0170	1	322	0.0031	-36	c.16+ others(51): Show c.16+3193_16+3228delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9			chr1	TogoVar
KANSL1L_chr2_210016421_210176409	210174940	TCTATTCT others(29): Show TCTATTCTATTCTATTCTATTCTATTCTATTCTATTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	284	0.0035	-36	c.-38 others(47): Show c.-3857_-3822delGAATAGAATAGAATAGAATAGAATAGAATAGAAT AG	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding		3532		chr2	TogoVar
KANSL1_chr17_46024916_46198429	46105870	CACACACA others(29): Show CACACACACACACACACACACACAGAGCAAGGCCTTG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01123.hp1 HG01361.hp1 others(8): Show HG01099.hp2 HG01123.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02109.hp2 HG02145.hp1 HG02735.hp2 HG02738.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0025 a0003c0004t0005 a0003c0004t0025	a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0005g0305 others(8): Show a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0005g0305 a0003c0004t0005g0306 a0003c0004t0005g0307 a0003c0004t0005g0309 a0003c0004t0005g0310 a0003c0004t0005g0312 a0003c0004t0005g0318 a0003c0004t0005g0319 a0003c0004t0025g0321	11	321	0.0343	-36	c.129 others(57): Show c.1290-11205_1290-11170delCAAGGCCTTGCTCTGTGTGTGTGT GTGTGTGTGTGT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46167037	AGAGAGAA others(29): Show AGAGAGAAAAAAAGAAAGGAAAAAAAAAAAAACTTAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0216	1	321	0.0031	-36	c.128 others(55): Show c.1289+3782_1289+3817delCTAAGTTTTTTTTTTTTTCCTTTCTT TTTTTCTCTC	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KAT2B_chr3_20035446_20159404	20106985	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03041.hp1 HG02135.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0098 a0001c0002t0001g0331 a0001c0001t0001g0098 a0001c0002t0001g0331	2	374	0.0054	-36	c.852 others(53): Show c.852-4609_852-4574delATATATATATATATATATATATATATAT ATTTTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106987	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02559.hp1 others(3): Show HG01243.hp2 HG02109.hp1 HG02559.hp1 HG02630.hp1 HG03453.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0014 a0001c0001t0001g0158 a0001c0002t0001g0365 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0158 a0001c0002t0001g0365 a0001c0002t0001g0366 a0001c0002t0003g0216 a0001c0002t0004g0157	6	374	0.0160	-36	c.852 others(53): Show c.852-4607_852-4572delATATATATATATATATATATATATATAT TTTTTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106989	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02258.hp2 HG02738.hp2 others(6): Show HG00741.hp1 HG02258.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005	a0001c0002t0001g0106 a0001c0002t0001g0329 a0001c0002t0004g0364 others(6): Show a0001c0002t0001g0106 a0001c0002t0001g0329 a0001c0002t0004g0364 a0001c0002t0005g0019 a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0005g0308 a0001c0002t0005g0309 a0001c0002t0005g0310	9	374	0.0241	-36	c.852 others(53): Show c.852-4605_852-4570delATATATATATATATATATATATATATTT TTTTTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106991	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0017 a0001c0002t0005g0017	1	374	0.0027	-36	c.852 others(53): Show c.852-4603_852-4568delATATATATATATATATATATATATTTTT TTTTTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNAL1_chr13_30197630_30312551	30205925	AGTGTGTG others(29): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01256.hp2 others(5): Show HG00099.hp1 HG00741.hp1 HG01256.hp2 HG01258.hp1 HG01884.hp2 HG02055.hp1 HG03017.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0030 a0001c0001t0085 others(2): Show a0001c0001t0022 a0001c0001t0030 a0001c0001t0085 a0001c0001t0189 a0001c0001t0204	a0001c0001t0022g0005 a0001c0001t0022g0313 a0001c0001t0030g0090 others(4): Show a0001c0001t0022g0005 a0001c0001t0022g0313 a0001c0001t0030g0090 a0001c0001t0030g0099 a0001c0001t0085g0089 a0001c0001t0189g0314 a0001c0001t0204g0343	8	386	0.0207	-36	c.25 others(47): Show c.2579_*2614delACACACACACACACACACACACACACACACACAC AC	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	11/11	2579		chr13	TogoVar
KATNIP_chr16_27545144_27785344	27661927	TATATATA others(29): Show TATATATATATATATATATATATATATATACACATAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18906.hp2 HG01109.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0117 a0001c0004t0001g0138 a0001c0004t0001g0117 a0001c0004t0001g0138	2	152	0.0132	-36	c.540 others(55): Show c.540+13216_540+13251delTATATACACATACATATATATATATA TATATATATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	14918689	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02615.hp2 HG01361.hp1 HG02615.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0016 a0002c0002t0001 a0001c0001t0016 a0002c0002t0001	a0001c0001t0016g0096 a0002c0002t0001g0084 a0001c0001t0016g0096 a0002c0002t0001g0084	2	146	0.0137	-36	c.227 others(55): Show c.227-41993_227-41958delAAAAAAAAAAAAAAAAAATATATATA TATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918693	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0072 a0002c0002t0007g0072	1	146	0.0069	-36	c.227 others(55): Show c.227-41989_227-41954delAAAAAAAAAAAAAATATATATATATA TATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNB2_chr8_72532225_72943349	72561754	TATATATG others(29): Show TATATATGGATATATATATATATGGATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG01243.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	2	164	0.0122	-36	c.-93 others(53): Show c.-93-5881_-93-5846delGGATATATATATATATGGATATATATAT ACATATAT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCND2_chr7_120268175_120755337	120295357	CACACACA others(29): Show CACACACACACACACACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02897.hp2 HG03098.hp1 HG02109.hp1 HG02897.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0027 a0001c0001t0007 a0001c0001t0027	a0001c0001t0007g0038 a0001c0001t0007g0040 a0001c0001t0027g0037 a0001c0001t0007g0038 a0001c0001t0007g0040 a0001c0001t0027g0037	3	80	0.0375	-36	c.111 others(57): Show c.1115+19628_1115+19663delCACACACACACACACACAGACACA CACACACACACA	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCNG4_chr16_84213657_84245012	84242377	ATCTCCTG others(29): Show ATCTCCTGGCTTCAAGTGATCCACCTGCCTCTGCCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0242 a0002c0003t0007g0242	1	472	0.0021	-36	c.-27 others(47): Show c.-2784_-2749delGAGGCAGAGGCAGGTGGATCACTTGAAGCCAGGA GA	KCNG4	ENSG00000168418.8	transcript	ENST00000308251.6	protein_coding		2366		chr16	TogoVar
KCNH2_chr7_150939961_150983321	150978895	CACACACA others(29): Show CACACACACACACACACACACACACACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01168.hp2 others(19): Show HG00741.hp2 HG01106.hp2 HG01168.hp2 HG01261.hp2 HG01496.hp1 HG01891.hp1 HG01975.hp1 HG02071.hp2 HG02129.hp1 HG02300.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02886.hp1 HG02976.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03688.hp1 NA18522.hp1 NA18947.hp1 NA18947.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0017 a0005c0019	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0017t0001 a0005c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0066 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0002t0001g0011 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0282 a0001c0003t0001g0002 a0001c0003t0001g0013 a0001c0003t0001g0068 a0001c0003t0001g0074 a0001c0003t0001g0078 a0001c0003t0001g0138 a0001c0003t0001g0231 a0001c0006t0001g0054 a0001c0017t0001g0234 a0005c0019t0001g0045	22	358	0.0615	-36	c.-10 others(46): Show c.-1018_-983delATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding		575		chr7	TogoVar
KCNH7_chr2_162366407_162843767	162839062	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	100	0.0100	-36	c.-58 others(45): Show c.-580_-545delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding		296		chr2	TogoVar
KCNH8_chr3_19143510_19540642	19308685	TCTCTCTC others(29): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01243.hp2 HG03486.hp1 HG01071.hp1 HG01243.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0005g0040 a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0005g0040	3	134	0.0224	-36	c.442 others(55): Show c.442+27364_442+27399delTCTCTCTCTCTCTCTCTCTCTCTCTC CCCCTCTCTC	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP4_chr4_20723606_21953772	20916985	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02056.hp1 HG02056.hp2 others(18): Show HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02145.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02630.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03239.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 NA18948.hp2 NA18971.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0003t0003 a0001c0004t0004	a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 others(18): Show a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0001g0075 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0004g0025 a0001c0001t0004g0043 a0001c0001t0006g0078 a0001c0001t0007g0032 a0001c0001t0007g0046 a0001c0001t0010g0033 a0001c0002t0001g0052 a0001c0002t0002g0011 a0001c0002t0003g0008 a0001c0002t0005g0062 a0001c0002t0008g0010 a0001c0002t0008g0047 a0001c0003t0003g0029 a0001c0004t0004g0058	21	80	0.2625	-36	c.62- others(53): Show c.62-34312_62-34277delTATATATATATATATATATATATATATA TATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21337089	GGGCAAGG others(29): Show GGGCAAGGATAGGGAAAGGGGCAAGGATATGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02572.hp1 others(4): Show HG02145.hp2 HG02486.hp1 HG02572.hp1 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0002t0006	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0024 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0007g0032 a0001c0001t0008g0069 a0001c0001t0011g0003 a0001c0002t0006g0053	7	80	0.0875	-36	c.62- others(55): Show c.62-454416_62-454381delTCTCTCCATATCCTTGCCCCTTTCCC TATCCTTGCC	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21370822	TATATATA others(29): Show TATATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 HG02965.hp1 HG02145.hp2 HG02809.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0001 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0017 a0001c0001t0007g0032 a0001c0001t0011g0003 a0001c0001t0001g0017 a0001c0001t0007g0032 a0001c0001t0011g0003	3	80	0.0375	-36	c.62- others(55): Show c.62-488149_62-488114delGTGTGTGTATATATATATATATATAT ATATATATAT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ6_chr21_37602373_37921457	37655206	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG02622.hp1 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0061 a0001c0002t0003g0158 a0001c0002t0003g0061 a0001c0002t0003g0158	2	198	0.0101	-36	c.947 others(55): Show c.947-29758_947-29723delTCTCTCTCTCTCTCTCTCACACACAC ACACACACAC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37655214	TGTGTGTG others(29): Show TGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03041.hp2 HG03471.hp2 HG02897.hp2 HG03041.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0102 a0001c0001t0104 a0001c0001t0090 a0001c0001t0102 a0001c0001t0104	a0001c0001t0090g0157 a0001c0001t0102g0107 a0001c0001t0104g0045 a0001c0001t0090g0157 a0001c0001t0102g0107 a0001c0001t0104g0045	3	198	0.0152	-36	c.947 others(55): Show c.947-29766_947-29731delTCTCTCTCTCTCTCTCTCTCTCTCTC ACACACACAC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNK12_chr2_47504290_47575985	47566403	TGTGTGTG others(29): Show TGTGTGTGTGCACGTGTGTACACACACACGTGCACAC	T T	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0171 a0001c0002t0012g0171	1	388	0.0026	-36	c.391 others(53): Show c.391+3502_391+3537delGTGTGCACGTGTGTGTGTACACACGTGC ACACACAC	KCNK12	ENSG00000184261.5	transcript	ENST00000327876.5	protein_coding	1/1			chr2	TogoVar
KCNK1_chr1_233609106_233677514	233665569	AAGAAGGG others(29): Show AAGAAGGGTTAACAAACCAGTCAAGGGAGACTGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(172): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0004 a0004c0006 others(1): Show a0001c0001 a0001c0004 a0004c0006 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0004t0003 a0004c0006t0001 a0005c0005t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 others(169): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0129 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0282 a0001c0001t0001g0339 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0362 a0001c0001t0001g0366 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0384 a0001c0001t0001g0386 a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0001g0393 a0001c0001t0001g0394 a0001c0001t0001g0396 a0001c0001t0001g0397 a0001c0001t0001g0398 a0001c0001t0001g0399 a0001c0001t0001g0400 a0001c0001t0001g0401 a0001c0001t0001g0403 a0001c0001t0001g0404 a0001c0001t0001g0407 a0001c0001t0001g0408 a0001c0001t0002g0009 a0001c0001t0002g0105 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0259 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0328 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0076 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0003g0137 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0159 a0001c0001t0003g0163 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0043 a0001c0001t0007g0045 a0001c0001t0007g0047 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0007g0265 a0001c0001t0009g0049 a0001c0001t0009g0097 a0001c0001t0009g0101 a0001c0001t0009g0117 a0001c0001t0009g0138 a0001c0001t0012g0149 a0001c0001t0014g0192 a0001c0004t0003g0110 a0004c0006t0001g0358 a0005c0005t0001g0255	175	422	0.4147	-36	c.356 others(52): Show c.356-1023_356-988delAAGGGTTAACAAACCAGTCAAGGGAGACT GGGAGAG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK9_chr8_139612121_139708123	139687599	TGTATACA others(29): Show TGTATACATATGTATACATATATATTCATATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	322	0.0031	-36	c.283 others(55): Show c.283+15075_283+15110delGTATACATATGAATATATATGTATAC ATATGTATAC	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNMB2_chr3_178531436_178849429	178759387	ATATCTCT others(29): Show ATATCTCTCCAAGAGGATATATATATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp1 HG01109.hp2 others(22): Show HG00280.hp1 HG01109.hp1 HG01109.hp2 HG01258.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG02027.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG03209.hp1 HG03225.hp2 HG03490.hp2 HG03492.hp2 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA18906.hp2 NA18971.hp2 NA19011.hp1 NA19063.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0161 others(22): Show a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0161 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0097 a0001c0001t0002g0168 a0001c0001t0002g0178 a0001c0001t0002g0210 a0001c0001t0002g0228 a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0115 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0109 a0001c0001t0004g0123 a0001c0001t0004g0129 a0001c0001t0004g0162 a0001c0002t0001g0102 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0132 a0001c0002t0001g0175 a0001c0002t0001g0198	25	232	0.1078	-36	c.-67 others(55): Show c.-67-47954_-67-47919delATCTCTCCAAGAGGATATATATATAT ATATATATCT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759434	GATATATA others(29): Show GATATATATATATATATATATATATCTCCAAGAGGAT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	232	0.0043	-36	c.-67 others(55): Show c.-67-47890_-67-47855delATATATCTCCAAGAGGATATATATAT ATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ1_chr11_2440008_2854105	2570156	GCCCAAGC others(29): Show GCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp1 HG02922.hp1 others(11): Show HG02280.hp1 HG02630.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03471.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0009 a0001c0001 a0001c0005 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0005t0001 a0004c0009t0002	a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0150 others(11): Show a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0150 a0001c0001t0002g0007 a0001c0001t0002g0111 a0001c0001t0004g0038 a0001c0001t0005g0004 a0001c0001t0005g0050 a0001c0001t0005g0184 a0001c0001t0006g0017 a0001c0001t0006g0187 a0001c0001t0013g0207 a0001c0005t0001g0162 a0004c0009t0002g0206	14	208	0.0673	-36	c.478 others(51): Show c.478-452_478-417delTGTGGGGCCCCCTCTGACCCAAGCTGGGGT TCCTGG	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2570256	CCCCTCTG others(29): Show CCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03579.hp2 NA18522.hp2 HG02809.hp1 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0005g0202 a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0005g0202	3	208	0.0144	-36	c.478 others(51): Show c.478-364_478-329delACCCAAGCTGGGGTTCCTGGCGTCGGACGC CCTCTG	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ5_chr6_72617064_73203853	72941666	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03453.hp1 HG03834.hp1 others(4): Show HG02055.hp2 HG03453.hp1 HG03834.hp1 HG06807.hp1 NA18959.hp2 NA18966.hp1 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0003t0033 a0001c0004t0002 a0002c0006t0026	a0001c0001t0002g0036 a0001c0001t0004g0048 a0001c0001t0005g0074 others(4): Show a0001c0001t0002g0036 a0001c0001t0004g0048 a0001c0001t0005g0074 a0001c0002t0001g0056 a0001c0003t0033g0079 a0001c0004t0002g0078 a0002c0006t0026g0019	7	80	0.0875	-36	c.399 others(55): Show c.399-62192_399-62157delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT1_chr9_135697185_135800502	135778856	ACCCCACA others(29): Show ACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGAC	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01884.hp1 HG01891.hp2 others(14): Show HG01346.hp2 HG01884.hp1 HG01891.hp2 HG02280.hp2 HG02615.hp1 HG02647.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG03195.hp1 HG03225.hp2 HG03516.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0015 a0001c0016	a0001c0001t0008 a0001c0001t0027 a0001c0002t0005 others(13): Show a0001c0001t0008 a0001c0001t0027 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0003t0003 a0001c0003t0006 a0001c0003t0008 a0001c0003t0009 a0001c0004t0008 a0001c0004t0020 a0001c0006t0009 a0001c0009t0006 a0001c0009t0018 a0001c0015t0001 a0001c0016t0019	a0001c0001t0008g0008 a0001c0001t0027g0157 a0001c0002t0005g0081 others(14): Show a0001c0001t0008g0008 a0001c0001t0027g0157 a0001c0002t0005g0081 a0001c0002t0006g0054 a0001c0002t0008g0026 a0001c0003t0003g0058 a0001c0003t0006g0023 a0001c0003t0006g0117 a0001c0003t0008g0043 a0001c0003t0009g0177 a0001c0004t0008g0203 a0001c0004t0020g0215 a0001c0006t0009g0012 a0001c0009t0006g0159 a0001c0009t0018g0162 a0001c0015t0001g0271 a0001c0016t0019g0116	17	272	0.0625	-36	c.272 others(53): Show c.2729+108_2729+143delCCCACAGCCACGACCACGGGCCCTCGCC CTGAGACC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196411059	CTCCTTCC others(29): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show HG00140.hp2 HG00639.hp2 HG00673.hp2 HG01074.hp2 HG01081.hp1 HG01175.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01981.hp1 HG02109.hp2 HG02145.hp2 HG02723.hp2 HG03209.hp2 HG03492.hp1 HG03579.hp1 HG03834.hp1 NA18906.hp2 NA18988.hp2 NA18990.hp1 NA19030.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 others(20): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0026 a0001c0001t0003g0104 a0001c0001t0006g0001	23	136	0.1691	-36	c.118 others(57): Show c.1185+11955_1185+11990delAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	12/27			chr1	TogoVar
KDM1A_chr1_23014468_23088689	23017175	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01074.hp2 HG01361.hp1 others(2): Show HG01070.hp2 HG01074.hp2 HG01361.hp1 HG01515.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0268 a0001c0001t0001g0294 others(2): Show a0001c0001t0001g0243 a0001c0001t0001g0268 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0321	5	352	0.0142	-36	c.-24 others(47): Show c.-2421_-2386delTTTATATATATATATATATATATATATATATATA TA	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding		2292		chr1	TogoVar
KDM2A_chr11_67114263_67263082	67247035	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG01496.hp2 others(6): Show HG00597.hp2 HG00609.hp2 HG01496.hp2 HG02074.hp1 HG02132.hp1 NA18988.hp2 NA19003.hp2 NA19060.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0051 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0005g0071 a0001c0001t0005g0091	9	220	0.0409	-36	c.196 others(53): Show c.1965+923_1965+958delATATATATATATATATATATATATATAT ATATATTT	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM3A_chr2_86436371_86497716	86484592	GGCAAAAG others(29): Show GGCAAAAGGGAGCGGCTGAATCTCCCAAGAATGAGTA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	302	0.0033	-36	c.309 others(53): Show c.3095-346_3095-311delAAAGGGAGCGGCTGAATCTCCCAAGAAT GAGTAGCA	KDM3A	ENSG00000115548.17	transcript	ENST00000312912.10	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
KDM7A_chr7_140079746_140181983	140100675	TATATACA others(29): Show TATATACATATATACATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0204 a0002c0002t0005g0204	1	344	0.0029	-36	c.163 others(53): Show c.1639-688_1639-653delGTGTATATATATATATATATATGTATAT ATGTATAT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar

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