Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
KCNQ3_chr8_132115861_132486095	132364694	C C	CGGATGGA others(13): Show CGGATGGATGGATGGATGGAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0056 a0001c0001t0068g0056	1	176	0.0057	20	c.386 others(41): Show c.386+115433_386+115452dupATCCATCCATCCATCCATCC	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132403016	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp2 HG02818.hp1 others(2): Show HG02572.hp2 HG02723.hp2 HG02818.hp1 HG02922.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0020 a0001c0001t0036 others(2): Show a0001c0001t0018 a0001c0001t0020 a0001c0001t0036 a0001c0001t0051 a0001c0001t0076	a0001c0001t0018g0035 a0001c0001t0020g0050 a0001c0001t0036g0032 others(2): Show a0001c0001t0018g0035 a0001c0001t0020g0050 a0001c0001t0036g0032 a0001c0001t0051g0047 a0001c0001t0076g0063	5	176	0.0284	20	c.386 others(39): Show c.386+77130_386+77131insTTTTTTTTTTTTTTTTTTTT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ4_chr1_40778787_40845452	40780118	T T	TACACACA others(13): Show TACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	372	0.0027	20	c.-39 others(31): Show c.-3976_-3975insACACACACACACACACACAC	KCNQ4	ENSG00000117013.17	transcript	ENST00000347132.10	protein_coding		3668		chr1	TogoVar
KCNQ5_chr6_72617064_73203853	72623391	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0075 a0001c0001t0022g0075	1	80	0.0125	20	c.398 others(35): Show c.398+821_398+840dupGTGTGTGTGTGTGTGTGTGT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	72852640	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18944.hp2 HG02109.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0031 a0001c0001t0006 a0001c0002t0031	a0001c0001t0006g0022 a0001c0002t0031g0057 a0001c0001t0006g0022 a0001c0002t0031g0057	2	80	0.0250	20	c.399 others(41): Show c.399-151266_399-151247dupTATATATATATATATATATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73046611	C C	CTATTTTA others(13): Show CTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03041.hp1 HG03486.hp1 HG02109.hp2 HG03041.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0025 a0001c0003t0015 a0001c0001t0002 a0001c0002t0025 a0001c0003t0015	a0001c0001t0002g0006 a0001c0002t0025g0065 a0001c0003t0015g0077 a0001c0001t0002g0006 a0001c0002t0025g0065 a0001c0003t0015g0077	3	80	0.0375	20	c.616 others(37): Show c.616+4576_616+4595dupATTTTATTTTATTTTATTTT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73097142	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG01099.hp1 others(4): Show HG00438.hp1 HG00639.hp2 HG01099.hp1 HG03516.hp1 NA18954.hp2 NA18959.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002	a0001c0001t0003g0011 a0001c0001t0005g0014 a0001c0001t0011g0007 others(4): Show a0001c0001t0003g0011 a0001c0001t0005g0014 a0001c0001t0011g0007 a0001c0001t0029g0046 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0002g0072	7	80	0.0875	20	c.919 others(37): Show c.919-8098_919-8097insTATATATATATATATATATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73193464	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG03486.hp1 others(2): Show HG02723.hp1 HG02965.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0012	a0001c0001t0029 a0001c0002t0025 a0001c0002t0030 others(2): Show a0001c0001t0029 a0001c0002t0025 a0001c0002t0030 a0001c0009t0014 a0001c0012t0014	a0001c0001t0029g0046 a0001c0002t0025g0065 a0001c0002t0030g0059 others(2): Show a0001c0001t0029g0046 a0001c0002t0025g0065 a0001c0002t0030g0059 a0001c0009t0014g0031 a0001c0012t0014g0009	5	80	0.0625	20	c.183 others(37): Show c.1836+800_1836+819dupAAATAAAATAAAATAAAATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNRG_chr13_50010444_50025922	50014360	T T	TATATATA others(13): Show TATATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	448	0.0022	20	c.-11 others(31): Show c.-1134_-1133insATATATATATATACACACAC	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		1083		chr13	TogoVar
KCNS3_chr2_17873667_17937958	17884260	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02148.hp2 HG03927.hp2 others(4): Show HG01081.hp1 HG02148.hp2 HG03927.hp2 NA18951.hp2 NA18966.hp1 NA18986.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0184 a0001c0002t0001g0183 a0001c0002t0001g0185 others(4): Show a0001c0001t0002g0184 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189	7	384	0.0182	20	c.-25 others(39): Show c.-252+5455_-252+5456insTATATATATATATATATATA	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNS3_chr2_17873667_17937958	17887484	G G	GATCTATC others(13): Show GATCTATCTATCTATCTATCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02056.hp1 HG02074.hp1 others(16): Show HG00423.hp2 HG02056.hp1 HG02074.hp1 HG02135.hp1 HG02155.hp1 HG02615.hp1 NA18957.hp1 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18995.hp1 NA19055.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19084.hp1 NA19087.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0004c0009t0002	a0001c0001t0001g0030 a0001c0001t0001g0071 a0001c0001t0002g0032 others(16): Show a0001c0001t0001g0030 a0001c0001t0001g0071 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0070 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0002t0001g0033 a0004c0009t0002g0022	19	384	0.0495	20	c.-25 others(39): Show c.-252+8697_-252+8698insCATCTATCTATCTATCTATC	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNS3_chr2_17873667_17937958	17887484	G G	GATCTATC others(13): Show GATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0329 a0003c0006t0001g0329	1	384	0.0026	20	c.-25 others(39): Show c.-252+8707_-252+8726dupATCTATCTATCTATCTATCT	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNS3_chr2_17873667_17937958	17888629	G G	GTATATCT others(13): Show GTATATCTATATCTATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	384	0.0026	20	c.-25 others(39): Show c.-252+9828_-252+9829insCTATATCTATATATATATAT	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNS3_chr2_17873667_17937958	17888629	G G	GTATATCT others(13): Show GTATATCTATATCTATCTATA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0263 a0001c0002t0001g0263	1	384	0.0026	20	c.-25 others(39): Show c.-252+9828_-252+9829insCTATATCTATCTATATATAT	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNT1_chr9_135697185_135800502	135727127	C C	CCTCTCTC others(13): Show CCTCTCTCCCTCTCTCTACCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01106.hp2 others(34): Show HG00544.hp1 HG00609.hp2 HG01106.hp2 HG01167.hp2 HG01358.hp1 HG01358.hp2 HG01884.hp2 HG01993.hp2 HG02074.hp2 HG02080.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02809.hp2 HG02895.hp2 HG03017.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18943.hp1 NA18947.hp1 NA18959.hp1 NA18959.hp2 NA19005.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0013 a0001c0019 a0001c0020 a0003c0011 a0004c0017 a0005c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0002t0034 a0001c0003t0001 a0001c0003t0008 a0001c0003t0009 a0001c0004t0004 a0001c0004t0012 a0001c0007t0001 a0001c0013t0024 a0001c0019t0003 a0001c0020t0017 a0003c0011t0001 a0004c0017t0004 a0005c0021t0001	a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0001g0221 others(34): Show a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0003g0222 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0013g0176 a0001c0002t0001g0090 a0001c0002t0001g0121 a0001c0002t0001g0172 a0001c0002t0001g0184 a0001c0002t0001g0213 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0002g0219 a0001c0002t0002g0228 a0001c0002t0003g0120 a0001c0002t0005g0220 a0001c0002t0009g0047 a0001c0002t0034g0179 a0001c0003t0001g0178 a0001c0003t0001g0227 a0001c0003t0001g0267 a0001c0003t0008g0043 a0001c0003t0009g0177 a0001c0004t0004g0224 a0001c0004t0012g0225 a0001c0004t0012g0226 a0001c0007t0001g0232 a0001c0013t0024g0046 a0001c0019t0003g0089 a0001c0020t0017g0001 a0003c0011t0001g0044 a0004c0017t0004g0223 a0005c0021t0001g0246	37	272	0.1360	20	c.254 others(39): Show c.254+12418_254+12419insTCTCTACCTCTCTCTCCCTC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATAGAGA others(13): Show TATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0148 a0001c0003t0010g0148	1	272	0.0037	20	c.254 others(39): Show c.254+17272_254+17273insTAGAGAGAGAGAGAGAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATAGA others(13): Show TATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0244 a0001c0002t0001g0244	1	272	0.0037	20	c.254 others(39): Show c.254+17272_254+17273insTATAGAGAGAGAGAGAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATATA others(13): Show TATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0164 a0001c0003t0001g0164	1	272	0.0037	20	c.254 others(39): Show c.254+17272_254+17273insTATATATATATATATATAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135732024	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02129.hp2 HG01952.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0128 a0001c0005t0001g0261 a0001c0001t0001g0128 a0001c0005t0001g0261	2	272	0.0074	20	c.254 others(39): Show c.254+17321_254+17322insAGGGAGAGAGAGAGAGAGAG	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135753077	G G	GATGAGTG others(13): Show GATGAGTGGATGGATGGAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(55): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00733.hp2 HG00741.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01433.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02135.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18964.hp1 NA19005.hp2 NA19007.hp2 NA19043.hp2 NA19068.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0010 a0001c0013 a0001c0016 a0001c0024 a0001c0025 a0003c0011 a0006c0018 a0008c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(32): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0027 a0001c0001t0038 a0001c0001t0039 a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0035 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0021 a0001c0003t0031 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0020 a0001c0006t0009 a0001c0006t0010 a0001c0006t0036 a0001c0009t0006 a0001c0009t0018 a0001c0010t0001 a0001c0010t0014 a0001c0013t0024 a0001c0016t0019 a0001c0024t0023 a0001c0025t0001 a0003c0011t0001 a0006c0018t0001 a0008c0012t0003	a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0001g0053 others(55): Show a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0167 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0214 a0001c0001t0001g0242 a0001c0001t0003g0168 a0001c0001t0003g0181 a0001c0001t0003g0218 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0016g0102 a0001c0001t0027g0157 a0001c0001t0038g0100 a0001c0001t0039g0156 a0001c0002t0001g0115 a0001c0002t0001g0244 a0001c0002t0008g0026 a0001c0002t0009g0047 a0001c0002t0011g0083 a0001c0002t0035g0109 a0001c0003t0001g0022 a0001c0003t0001g0084 a0001c0003t0001g0272 a0001c0003t0002g0027 a0001c0003t0006g0023 a0001c0003t0006g0117 a0001c0003t0021g0259 a0001c0003t0031g0269 a0001c0004t0001g0092 a0001c0004t0001g0209 a0001c0004t0002g0147 a0001c0004t0004g0025 a0001c0004t0020g0215 a0001c0006t0009g0012 a0001c0006t0010g0010 a0001c0006t0010g0011 a0001c0006t0036g0009 a0001c0009t0006g0159 a0001c0009t0018g0162 a0001c0010t0001g0158 a0001c0010t0014g0161 a0001c0013t0024g0046 a0001c0016t0019g0116 a0001c0024t0023g0048 a0001c0025t0001g0113 a0003c0011t0001g0044 a0006c0018t0001g0061 a0008c0012t0003g0241	58	272	0.2132	20	c.435 others(35): Show c.435-841_435-822dupGAATGAGTGGATGGATGGAG	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135784482	G G	GCTCCCTC others(13): Show GCTCCCTCCCTCCCTCCCTCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0220 a0001c0002t0005g0220	1	272	0.0037	20	c.294 others(34): Show c.2944-26_2944-7dupCCCTCCCTCCCTCCCTCCCT	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	25/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196329950	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0119 a0001c0001t0007g0119	1	136	0.0074	20	c.210 others(39): Show c.2103+1186_2103+1205dupATATATATATATATATATAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	18/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196334487	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02109.hp1 HG02145.hp2 others(13): Show HG00323.hp2 HG02109.hp1 HG02145.hp2 HG02897.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA19009.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0069 others(13): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0001t0002g0028 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0003g0104 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0002c0008t0001g0020	16	136	0.1177	20	c.178 others(37): Show c.1784-428_1784-427insAAAAAAAAAAAAAAAAAAAA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	16/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196382082	A A	AATTTATT others(13): Show AATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00673.hp1 others(47): Show HG00140.hp1 HG00323.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01891.hp2 HG01981.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG03041.hp1 HG03492.hp2 HG03669.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18984.hp1 NA18988.hp1 NA18990.hp2 NA19009.hp1 NA19009.hp2 NA19062.hp1 NA19062.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0004t0004 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0042 others(47): Show a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0002g0007 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0048 a0001c0001t0002g0076 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0005g0100 a0001c0001t0007g0119 a0001c0001t0011g0066 a0001c0004t0004g0002 a0001c0005t0001g0015 a0001c0006t0001g0061 a0001c0006t0001g0067	50	136	0.3677	20	c.129 others(39): Show c.1295-8854_1295-8835dupAAATAAATAAATAAATAAAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	13/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196561675	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 HG02717.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0011 a0001c0001t0001g0012	2	136	0.0147	20	c.95+ others(37): Show c.95+46539_95+46540insCTTTTTTTTTTTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196584168	G G	GATAAAAT others(13): Show GATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(67): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01981.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA19009.hp1 NA19009.hp2 NA19062.hp1 NA19062.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0005t0001 a0001c0006t0001 a0002c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0017 others(67): Show a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0076 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0006g0001 a0001c0001t0007g0119 a0001c0005t0001g0014 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0006t0001g0061 a0002c0008t0001g0020	70	136	0.5147	20	c.95+ others(37): Show c.95+24027_95+24046dupTTTATTTTATTTTATTTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196596054	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	136	0.0074	20	c.95+ others(37): Show c.95+12160_95+12161insTATATATATATATATATATA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196596056	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03139.hp2 HG02897.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0092 a0001c0001t0001g0004 a0001c0001t0001g0092	2	136	0.0147	20	c.95+ others(37): Show c.95+12139_95+12158dupTATATATATATATATATATA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNV1_chr8_109958636_109980771	109963198	T T	TTATAATA others(13): Show TTATAATATAATATAATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02976.hp2 HG02523.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0001t0001g0001 a0001c0001t0002g0003	2	372	0.0054	20	c.48 others(31): Show c.4889_*4890insTTATATTATATTATATTATA	KCNV1	ENSG00000164794.9	transcript	ENST00000524391.6	protein_coding		437		chr8	TogoVar
KCP_chr7_128871865_128915709	128908251	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01081.hp1 others(22): Show HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG02004.hp2 HG02132.hp1 HG02615.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02965.hp1 HG03209.hp2 HG03688.hp2 HG04184.hp1 NA18954.hp2 NA18983.hp1 NA18986.hp2 NA19000.hp2 NA19240.hp2	a0001 a0004 a0005 others(10): Show a0001 a0004 a0005 a0008 a0009 a0011 a0012 a0019 a0020 a0027 a0028 a0053 a0061	a0001c0001 a0001c0024 a0004c0004 others(13): Show a0001c0001 a0001c0024 a0004c0004 a0004c0056 a0005c0005 a0008c0007 a0008c0062 a0009c0027 a0011c0010 a0012c0020 a0019c0018 a0020c0071 a0027c0033 a0028c0034 a0053c0055 a0061c0039	a0001c0001t0001 a0001c0001t0006 a0001c0024t0002 others(14): Show a0001c0001t0001 a0001c0001t0006 a0001c0024t0002 a0004c0004t0002 a0004c0056t0002 a0005c0005t0001 a0008c0007t0002 a0008c0062t0002 a0009c0027t0001 a0011c0010t0002 a0012c0020t0002 a0019c0018t0001 a0020c0071t0002 a0027c0033t0002 a0028c0034t0001 a0053c0055t0001 a0061c0039t0002	a0001c0001t0001g0124 a0001c0001t0001g0272 a0001c0001t0001g0275 others(22): Show a0001c0001t0001g0124 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0006g0341 a0001c0024t0002g0271 a0004c0004t0002g0148 a0004c0056t0002g0274 a0005c0005t0001g0282 a0008c0007t0002g0149 a0008c0062t0002g0317 a0009c0027t0001g0286 a0011c0010t0002g0285 a0012c0020t0002g0283 a0019c0018t0001g0281 a0020c0071t0002g0150 a0027c0033t0002g0127 a0028c0034t0001g0270 a0053c0055t0001g0273 a0061c0039t0002g0324	25	372	0.0672	20	c.219 others(35): Show c.219+155_219+174dupTCTTTCTTTCTTTCTTTCTT	KCP	ENSG00000135253.16	transcript	ENST00000610776.5	protein_coding	2/39			chr7	TogoVar
KCTD15_chr19_33791870_33820761	33816579	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01069.hp2 others(26): Show HG00099.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01928.hp2 HG01981.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02630.hp2 HG03195.hp1 HG03471.hp1 HG03492.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 NA18747.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp2 NA19068.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0028 a0001c0001t0045 a0001c0003t0002	a0001c0001t0001g0004 a0001c0001t0002g0007 a0001c0001t0002g0022 others(20): Show a0001c0001t0001g0004 a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0085 a0001c0001t0002g0179 a0001c0001t0002g0214 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0045 a0001c0001t0003g0050 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0070 a0001c0001t0003g0076 a0001c0001t0003g0099 a0001c0001t0003g0112 a0001c0001t0017g0059 a0001c0001t0028g0100 a0001c0001t0045g0180 a0001c0003t0002g0206	29	370	0.0784	20	c.36 others(31): Show c.3631_*3632insAAAAAAAAAAAAAAAAAAAA	KCTD15	ENSG00000153885.15	transcript	ENST00000683859.1	protein_coding		819		chr19	TogoVar
KCTD16_chr5_144165873_144490686	144299044	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02922.hp2 NA19005.hp2 HG02074.hp2 HG02922.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0043 a0001c0001t0001 a0001c0001t0036 a0001c0001t0043	a0001c0001t0001g0095 a0001c0001t0036g0082 a0001c0001t0043g0049 a0001c0001t0001g0095 a0001c0001t0036g0082 a0001c0001t0043g0049	3	156	0.0192	20	c.832 others(39): Show c.832+91508_832+91527dupATATATATATATATATATAT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD16_chr5_144165873_144490686	144299072	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0139 a0001c0001t0016g0139	1	156	0.0064	20	c.832 others(39): Show c.832+91527_832+91528insATATATATATATATATATTT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD16_chr5_144165873_144490686	144382017	T T	TATACATA others(13): Show TATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02055.hp2 NA19240.hp1 HG00741.hp1 HG02055.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0028 a0001c0001t0065 a0001c0001t0021 a0001c0001t0028 a0001c0001t0065	a0001c0001t0021g0004 a0001c0001t0028g0025 a0001c0001t0065g0013 a0001c0001t0021g0004 a0001c0001t0028g0025 a0001c0001t0065g0013	3	156	0.0192	20	c.833 others(39): Show c.833-91631_833-91612dupCATACATACATACATACATA	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD16_chr5_144165873_144490686	144442450	C C	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02132.hp2 HG02922.hp1 others(6): Show HG01978.hp2 HG02132.hp2 HG02922.hp1 HG03209.hp2 HG03831.hp1 NA18984.hp2 NA19011.hp2 NA19043.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0026 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0026 a0001c0001t0041 a0001c0001t0042 a0001c0001t0050 a0001c0002t0005	a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0111 others(6): Show a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0111 a0001c0001t0004g0115 a0001c0001t0026g0021 a0001c0001t0041g0087 a0001c0001t0042g0040 a0001c0001t0050g0089 a0001c0002t0005g0084	9	156	0.0577	20	c.833 others(39): Show c.833-31201_833-31182dupTTCTTTCTTTCTTTCTTTCT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD19_chr16_67284432_67331741	67314830	T T	TATATAGA others(13): Show TATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	232	0.0043	20	c.300 others(37): Show c.300+5758_300+5759insCTCTCTCTCTCTCTCTATAT	KCTD19	ENSG00000168676.11	transcript	ENST00000304372.6	protein_coding	2/15			chr16	TogoVar
KCTD20_chr6_36438000_36496141	36448015	G G	GTGTATGT others(13): Show GTGTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG03209.hp2 HG02717.hp2 HG02723.hp1 HG03209.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0009 a0004c0005t0009 a0002c0002t0009 a0004c0005t0009	a0002c0002t0009g0035 a0004c0005t0009g0036 a0004c0005t0009g0037 a0002c0002t0009g0035 a0004c0005t0009g0036 a0004c0005t0009g0037	3	366	0.0082	20	c.-47 others(37): Show c.-47+4905_-47+4906insGTATGTATATATATATATAT	KCTD20	ENSG00000112078.14	transcript	ENST00000373731.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCTD2_chr17_75042225_75070886	75062699	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01516.hp2 HG01934.hp1 others(5): Show HG01361.hp1 HG01516.hp2 HG01934.hp1 HG03130.hp2 HG03195.hp2 HG03239.hp1 NA18975.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0019 a0001c0001t0025	a0001c0001t0002g0180 a0001c0001t0002g0226 a0001c0001t0003g0112 others(5): Show a0001c0001t0002g0180 a0001c0001t0002g0226 a0001c0001t0003g0112 a0001c0001t0006g0085 a0001c0001t0007g0069 a0001c0001t0013g0150 a0001c0001t0019g0092 a0001c0001t0025g0079	8	408	0.0196	20	c.763 others(35): Show c.763-293_763-274dupCACACACACACACACACACA	KCTD2	ENSG00000180901.11	transcript	ENST00000322444.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	352	0.0028	20	c.25 others(31): Show c.2563_*2564insATATATATATATATTTTTTT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	20	c.25 others(31): Show c.2563_*2564insATATATATATATATATATTT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KCTD8_chr4_44168903_44453809	44176860	C C	CATCTATC others(13): Show CATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02165.hp1 HG02165.hp2 others(13): Show HG01993.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG03831.hp2 NA18949.hp2 NA18962.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18993.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19079.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0045 a0001c0001t0001g0077 others(13): Show a0001c0001t0001g0020 a0001c0001t0001g0045 a0001c0001t0001g0077 a0001c0001t0001g0122 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187	16	294	0.0544	20	c.962 others(37): Show c.962-1630_962-1611dupAGATAGATAGATAGATAGAT	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KCTD8_chr4_44168903_44453809	44272121	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02559.hp1 others(6): Show HG01243.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0238 a0001c0001t0002g0248 others(6): Show a0001c0001t0002g0137 a0001c0001t0002g0238 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0268	9	294	0.0306	20	c.962 others(39): Show c.962-96891_962-96872dupTATATATATATATATATATA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KDELR1_chr19_48377575_48396551	48390577	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp1 HG02630.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	2	432	0.0046	20	c.92- others(31): Show c.92-54_92-53insGTCTCTCTCTCTCTCTCTCT	KDELR1	ENSG00000105438.9	transcript	ENST00000330720.7	protein_coding	1/4			chr19	TogoVar
KDM1A_chr1_23014468_23088689	23042440	A A	ATTATTAT others(13): Show ATTATTATTATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	352	0.0028	20	c.518 others(37): Show c.518-1985_518-1984insATTATTATTTTTTTTTTTTT	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
KDM1A_chr1_23014468_23088689	23042440	A A	ATTATTAT others(13): Show ATTATTATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03834.hp2 HG02895.hp1 HG02897.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0109 a0001c0001t0001g0119 a0001c0001t0001g0090 a0001c0001t0001g0109 a0001c0001t0001g0119	3	352	0.0085	20	c.518 others(37): Show c.518-1985_518-1984insATTATTTTTTTTTTTTTTTT	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
KDM1B_chr6_18150422_18228854	18208603	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02559.hp2 HG02647.hp2 others(2): Show HG00673.hp1 HG02559.hp2 HG02647.hp2 NA18947.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0279 a0001c0002t0001g0232 a0001c0002t0001g0330 others(2): Show a0001c0001t0002g0279 a0001c0002t0001g0232 a0001c0002t0001g0330 a0001c0002t0001g0340 a0001c0002t0001g0353	5	392	0.0128	20	c.186 others(37): Show c.1866+403_1866+422dupATATATATATATATATATAT	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM1B_chr6_18150422_18228854	18208603	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03453.hp1 NA18959.hp1 others(7): Show HG01106.hp2 HG03453.hp1 NA18959.hp1 NA18961.hp1 NA18968.hp2 NA18979.hp1 NA18982.hp2 NA18988.hp1 NA19011.hp1 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0005	a0001c0003t0001g0095 a0001c0003t0001g0097 a0001c0003t0001g0116 others(7): Show a0001c0003t0001g0095 a0001c0003t0001g0097 a0001c0003t0001g0116 a0001c0003t0001g0120 a0001c0003t0001g0129 a0001c0003t0001g0146 a0001c0003t0002g0078 a0001c0003t0002g0123 a0001c0003t0003g0126 a0001c0005t0005g0016	10	392	0.0255	20	c.186 others(37): Show c.1866+398_1866+399insGTGTATATATATATATATAT	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM1B_chr6_18150422_18228854	18208627	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0373 a0001c0001t0002g0373	1	392	0.0026	20	c.186 others(37): Show c.1866+422_1866+423insATATATATATATATATTTTT	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM2B_chr12_121424096_121586023	121478866	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03688.hp1 HG00099.hp2 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0125 a0001c0002t0001g0038 a0001c0002t0001g0125	2	270	0.0074	20	c.173 others(41): Show c.1734+15693_1734+15712dupCACACACACACACACACACA	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	12/22			chr12	TogoVar
KDM2B_chr12_121424096_121586023	121478866	T T	TTGTTTGT others(13): Show TTGTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01975.hp2 HG01358.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0158 a0001c0001t0001g0169	2	270	0.0074	20	c.173 others(41): Show c.1734+15712_1734+15713insCACACACACACACACAAACA	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	12/22			chr12	TogoVar

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