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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Select column to sort.

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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
KCNMB2_chr3_178531436_178849429	178778456	A A	ACACACAC others(27): Show ACACACACGCACGCACGTGCGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18980.hp1 HG03017.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0177 a0001c0002t0001g0060 a0001c0001t0003g0177 a0001c0002t0001g0060	2	232	0.0086	34	c.-67 others(53): Show c.-67-28880_-67-28879insGCACGCACGTGCGCGCGCGCGCGCGC GCACACAC	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178817218	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	232	0.0043	34	c.57- others(49): Show c.57-8361_57-8360insTATATATATATATATATATATATACATATA TATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN2_chr5_114357070_114501496	114373640	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19062.hp2 HG03704.hp2 NA19062.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0023 a0002c0002 a0009c0023	a0002c0002t0001 a0009c0023t0001 a0002c0002t0001 a0009c0023t0001	a0002c0002t0001g0161 a0009c0023t0001g0160 a0002c0002t0001g0161 a0009c0023t0001g0160	2	250	0.0080	34	c.121 others(53): Show c.1218+9657_1218+9658insTATATATATATATATATATATATATA TATATATA	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TTAAATAT others(27): Show TTAAATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03471.hp2 HG01891.hp1 HG03471.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0003 a0003c0003t0006 a0002c0002t0003 a0003c0003t0006	a0002c0002t0003g0134 a0003c0003t0006g0159 a0002c0002t0003g0134 a0003c0003t0006g0159	2	238	0.0084	34	c.144 others(53): Show c.1448+5558_1448+5559insTATATATATATATATATATATATATA TATATTTA	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03453.hp1 NA18975.hp1 HG00140.hp1 HG03453.hp1 NA18975.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0003 a0001c0001 a0001c0008 a0003c0003	a0001c0001t0016 a0001c0008t0002 a0003c0003t0075 a0001c0001t0016 a0001c0008t0002 a0003c0003t0075	a0001c0001t0016g0063 a0001c0008t0002g0081 a0003c0003t0075g0162 a0001c0001t0016g0063 a0001c0008t0002g0081 a0003c0003t0075g0162	3	238	0.0126	34	c.144 others(53): Show c.1448+5558_1448+5559insTATATATATATATATATATATATATA TATATATA	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63436485	C C	CGCACCAC others(27): Show CGCACCACTGCACTCCAGCCTGGGCAACAGAGCGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0095 a0002c0001t0006g0095	1	330	0.0030	34	c.102 others(53): Show c.1023+2106_1023+2139dupTCGCTCTGTTGCCCAGGCTGGAGTGC AGTGGTGC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	7/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63456068	T T	TCACGGGC others(27): Show TCACGGGCCCCCCACCTCCGGGAGGCCCCTCTGCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0150 a0002c0001t0001g0150	1	330	0.0030	34	c.297 others(51): Show c.297-9265_297-9232dupGGCAGAGGGGCCTCCCGGAGGTGGGGGG CCCGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132303565	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01074.hp2 others(7): Show HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01884.hp1 HG02257.hp2 HG02809.hp1 HG02809.hp2 HG03195.hp2 HG03540.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0054 a0001c0001t0060 a0001c0001t0091 a0001c0001t0105 a0001c0006t0061	a0001c0001t0003g0157 a0001c0001t0004g0061 a0001c0001t0006g0110 others(7): Show a0001c0001t0003g0157 a0001c0001t0004g0061 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0014g0119 a0001c0001t0054g0052 a0001c0001t0060g0064 a0001c0001t0091g0140 a0001c0001t0105g0163 a0001c0006t0061g0086	10	176	0.0568	34	c.387 others(55): Show c.387-117385_387-117384insATATATATATATATATATATATAT ATATATATAT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132403016	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18945.hp2 NA20129.hp2 HG02451.hp2 NA18945.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0073 a0001c0001t0097 a0001c0001t0008 a0001c0001t0073 a0001c0001t0097	a0001c0001t0008g0020 a0001c0001t0073g0076 a0001c0001t0097g0149 a0001c0001t0008g0020 a0001c0001t0073g0076 a0001c0001t0097g0149	3	176	0.0171	34	c.386 others(53): Show c.386+77130_386+77131insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ5_chr6_72617064_73203853	72676740	A A	ATAATCTT others(27): Show ATAATCTTTGTTATACAAATTTTACTCTGGTTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01071.hp1 HG02055.hp2 others(7): Show HG00438.hp2 HG01071.hp1 HG02055.hp2 HG02145.hp2 HG03041.hp1 HG03453.hp1 HG06807.hp2 NA18966.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0011	a0001c0001t0005 a0001c0001t0027 a0001c0003t0015 others(7): Show a0001c0001t0005 a0001c0001t0027 a0001c0003t0015 a0001c0003t0033 a0001c0004t0001 a0001c0004t0002 a0001c0007t0019 a0001c0008t0002 a0001c0009t0014 a0001c0011t0034	a0001c0001t0005g0074 a0001c0001t0027g0030 a0001c0003t0015g0077 others(7): Show a0001c0001t0005g0074 a0001c0001t0027g0030 a0001c0003t0015g0077 a0001c0003t0033g0079 a0001c0004t0001g0076 a0001c0004t0002g0078 a0001c0007t0019g0001 a0001c0008t0002g0050 a0001c0009t0014g0031 a0001c0011t0034g0003	10	80	0.1250	34	c.398 others(53): Show c.398+54155_398+54156insATCTTTGTTATACAAATTTTACTCTG GTTCCTTA	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(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02970.hp1 NA18954.hp1 HG01071.hp1 HG02970.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0009 a0001c0002t0037 a0001c0004t0001 a0001c0001t0009 a0001c0002t0037 a0001c0004t0001	a0001c0001t0009g0037 a0001c0002t0037g0051 a0001c0004t0001g0076 a0001c0001t0009g0037 a0001c0002t0037g0051 a0001c0004t0001g0076	3	80	0.0375	34	c.399 others(55): Show c.399-151247_399-151246insTATATATATATATATATATATATA TATATATATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT1_chr9_135697185_135800502	135726942	C C	CCTCTCTT others(27): Show CCTCTCTTTCCCATTCTCTCTCTCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0014 a0001c0015 a0001c0016 a0001c0022 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0002c0008 a0006c0018 a0007c0023 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0038 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0025 a0001c0002t0029 a0001c0002t0032 a0001c0002t0033 a0001c0002t0040 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0010 a0001c0003t0013 a0001c0003t0021 a0001c0003t0031 a0001c0003t0041 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0004t0008 a0001c0004t0014 a0001c0004t0020 a0001c0004t0030 a0001c0005t0001 a0001c0006t0009 a0001c0006t0010 a0001c0006t0036 a0001c0007t0001 a0001c0009t0006 a0001c0009t0018 a0001c0010t0001 a0001c0010t0014 a0001c0014t0017 a0001c0015t0001 a0001c0016t0019 a0001c0022t0001 a0001c0024t0023 a0001c0025t0001 a0001c0026t0001 a0001c0027t0009 a0002c0008t0001 a0006c0018t0001 a0007c0023t0001 a0008c0012t0003	a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0038 others(207): Show a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0216 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0020 a0001c0001t0002g0049 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0098 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0152 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0251 a0001c0001t0002g0266 a0001c0001t0003g0016 a0001c0001t0003g0168 a0001c0001t0003g0181 a0001c0001t0003g0218 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0071 a0001c0001t0011g0032 a0001c0001t0015g0103 a0001c0001t0015g0104 a0001c0001t0016g0102 a0001c0001t0016g0254 a0001c0001t0022g0193 a0001c0001t0026g0123 a0001c0001t0027g0157 a0001c0001t0028g0077 a0001c0001t0038g0100 a0001c0001t0039g0156 a0001c0001t0042g0265 a0001c0001t0043g0197 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0050 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0115 a0001c0002t0001g0124 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0185 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0211 a0001c0002t0001g0235 a0001c0002t0001g0244 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0002g0021 a0001c0002t0002g0107 a0001c0002t0002g0114 a0001c0002t0002g0131 a0001c0002t0002g0145 a0001c0002t0002g0150 a0001c0002t0003g0105 a0001c0002t0004g0137 a0001c0002t0004g0257 a0001c0002t0005g0079 a0001c0002t0005g0081 a0001c0002t0005g0270 a0001c0002t0011g0083 a0001c0002t0025g0149 a0001c0002t0029g0182 a0001c0002t0032g0200 a0001c0002t0033g0139 a0001c0002t0040g0160 a0001c0003t0001g0018 a0001c0003t0001g0022 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0040 a0001c0003t0001g0064 a0001c0003t0001g0066 a0001c0003t0001g0069 a0001c0003t0001g0080 a0001c0003t0001g0082 a0001c0003t0001g0084 a0001c0003t0001g0091 a0001c0003t0001g0108 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0144 a0001c0003t0001g0151 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0180 a0001c0003t0001g0210 a0001c0003t0001g0248 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0260 a0001c0003t0001g0272 a0001c0003t0002g0027 a0001c0003t0002g0101 a0001c0003t0002g0153 a0001c0003t0002g0192 a0001c0003t0002g0199 a0001c0003t0002g0236 a0001c0003t0002g0247 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0006g0023 a0001c0003t0006g0117 a0001c0003t0010g0148 a0001c0003t0013g0068 a0001c0003t0021g0259 a0001c0003t0031g0269 a0001c0003t0041g0093 a0001c0004t0001g0130 a0001c0004t0001g0133 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0187 a0001c0004t0001g0195 a0001c0004t0001g0209 a0001c0004t0001g0263 a0001c0004t0002g0125 a0001c0004t0002g0147 a0001c0004t0004g0003 a0001c0004t0004g0025 a0001c0004t0004g0255 a0001c0004t0004g0256 a0001c0004t0004g0258 a0001c0004t0006g0110 a0001c0004t0008g0203 a0001c0004t0014g0002 a0001c0004t0020g0215 a0001c0004t0030g0146 a0001c0005t0001g0207 a0001c0005t0001g0208 a0001c0005t0001g0217 a0001c0005t0001g0240 a0001c0005t0001g0261 a0001c0006t0009g0012 a0001c0006t0010g0010 a0001c0006t0010g0011 a0001c0006t0036g0009 a0001c0007t0001g0155 a0001c0009t0006g0159 a0001c0009t0018g0162 a0001c0010t0001g0158 a0001c0010t0014g0161 a0001c0014t0017g0212 a0001c0015t0001g0271 a0001c0016t0019g0116 a0001c0022t0001g0070 a0001c0024t0023g0048 a0001c0025t0001g0113 a0001c0026t0001g0051 a0001c0027t0009g0268 a0002c0008t0001g0170 a0002c0008t0001g0171 a0006c0018t0001g0061 a0007c0023t0001g0017 a0008c0012t0003g0241	210	272	0.7721	34	c.254 others(53): Show c.254+12239_254+12240insTCTCTCCCTCTCTCCCTCTCTCTTTC CCATTCTC	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(27): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01496.hp1 HG02080.hp2 HG00438.hp2 HG01496.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0132 a0001c0002t0001g0205 a0001c0003t0001g0082 a0001c0001t0001g0132 a0001c0002t0001g0205 a0001c0003t0001g0082	3	272	0.0110	34	c.254 others(53): Show c.254+17272_254+17273insTAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	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(27): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	272	0.0037	34	c.254 others(53): Show c.254+17272_254+17273insTATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	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(27): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02647.hp2 HG00642.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0009 a0001c0001t0001 a0001c0006t0009	a0001c0001t0001g0119 a0001c0006t0009g0012 a0001c0001t0001g0119 a0001c0006t0009g0012	2	272	0.0074	34	c.254 others(53): Show c.254+17272_254+17273insTATATATATAGAGAGAGAGAGAGAGA GAGAGAGA	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(27): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01981.hp2 HG01257.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0129 a0001c0001t0001g0055 a0001c0001t0001g0129	2	272	0.0074	34	c.254 others(53): Show c.254+17272_254+17273insTATATATATATAGAGAGAGAGAGAGA GAGAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135733334	A A	ACAACTGC others(27): Show ACAACTGCCCCCCATACCTGCCCCTGCACCTGCCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0043 a0001c0003t0008g0043	1	272	0.0037	34	c.255 others(53): Show c.255-16762_255-16761insACTGCCCCCCATACCTGCCCCTGCAC CTGCCCCA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	136	0.0074	34	c.269 others(53): Show c.2697+1408_2697+1409insATATATATATATATATTTTTTTTTTT TTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	136	0.0074	34	c.269 others(53): Show c.2697+1408_2697+1409insATATATATATATATATATATTTTTTT TTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	136	0.0074	34	c.269 others(53): Show c.2697+1408_2697+1409insATATATATATATATATATATATTTTT TTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0061 a0001c0006t0001g0061	1	136	0.0074	34	c.269 others(53): Show c.2697+1408_2697+1409insATATATATATATATATATATATATTT TTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCTD16_chr5_144165873_144490686	144452146	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19240.hp1 HG02809.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0065 a0001c0001t0018 a0001c0001t0065	a0001c0001t0018g0079 a0001c0001t0065g0013 a0001c0001t0018g0079 a0001c0001t0065g0013	2	156	0.0128	34	c.833 others(53): Show c.833-21495_833-21494insATATATATATATATATATATATATAT ATATATAT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD20_chr6_36438000_36496141	36448015	G G	GTGTATGT others(27): Show GTGTATGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19240.hp2 HG02809.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0009 a0001c0001t0001 a0002c0002t0009	a0001c0001t0001g0308 a0002c0002t0009g0031 a0001c0001t0001g0308 a0002c0002t0009g0031	2	366	0.0055	34	c.-47 others(51): Show c.-47+4905_-47+4906insGTATGTATATATATATATATATATATAT ATATAT	KCTD20	ENSG00000112078.14	transcript	ENST00000373731.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCTD20_chr6_36438000_36496141	36448015	G G	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0021 a0002c0002t0007g0021	1	366	0.0027	34	c.-47 others(51): Show c.-47+4905_-47+4906insGTGTGTGTATATATATATATATATATAT ATATAT	KCTD20	ENSG00000112078.14	transcript	ENST00000373731.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCTD5_chr16_2677523_2714030	2678197	T T	TCCTGTGT others(27): Show TCCTGTGTCTCCATGTAGGAGAGTGGCTCTCTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00741.hp1 others(73): Show HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp2 HG01891.hp2 HG02129.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18979.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19074.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(59): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0210 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0003g0013 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0006g0306 a0001c0001t0009g0074 a0001c0001t0010g0073 a0001c0001t0010g0264 a0001c0001t0011g0098 a0001c0001t0011g0099 a0001c0001t0013g0077 a0001c0001t0015g0063 a0001c0001t0019g0262 a0001c0002t0001g0260	76	414	0.1836	34	c.-43 others(45): Show c.-4352_-4351insCCTGTGTCTCCATGTAGGAGAGTGGCTCTCTCAG	KCTD5	ENSG00000167977.9	transcript	ENST00000301738.9	protein_coding		4325		chr16	TogoVar
KCTD8_chr4_44168903_44453809	44272121	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	294	0.0034	34	c.962 others(53): Show c.962-96872_962-96871insTATATATATATATATATATATATATA TATATATA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KCTD8_chr4_44168903_44453809	44317228	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG06807.hp2 HG02080.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0001t0001g0032 a0001c0001t0001g0076	2	294	0.0068	34	c.961 others(55): Show c.961+130334_961+130335insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KDM1B_chr6_18150422_18228854	18155122	T T	TCCGCGCC others(27): Show TCCGCGCCCCGCCTCCGCCCGCGCCCCGCCTCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0358 a0001c0004t0002g0358	1	392	0.0026	34	c.-50 others(43): Show c.-507_-506insCCGCGCCCCGCCTCCGCCCGCGCCCCGCCTCCGC	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding		299		chr6	TogoVar
KDM1B_chr6_18150422_18228854	18208603	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	392	0.0026	34	c.186 others(51): Show c.1866+422_1866+423insATATATATATATATATATATATATATAT ATATAT	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM4C_chr9_6752973_7180648	6919271	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0198 a0002c0008t0001g0198	1	266	0.0038	34	c.921 others(53): Show c.921+26040_921+26041insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTGT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM5A_chr12_275057_394320	357827	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0311 a0001c0001t0014g0311	1	350	0.0029	34	c.673 others(51): Show c.673-1291_673-1290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding	5/27			chr12	TogoVar
KDM7A_chr7_140079746_140181983	140100715	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	344	0.0029	34	c.163 others(51): Show c.1639-693_1639-692insGTGTATATATATATATATATATATATAT ATATAT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar
KEL_chr7_142936114_142967363	142965727	G G	GTATATAT others(27): Show GTATATATATAAATATATATTTATATTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	253	0.0040	34	c.-35 others(45): Show c.-3522_-3521insATATATATAATATAAATATATATTTATATATATA	KEL	ENSG00000197993.9	transcript	ENST00000355265.7	protein_coding		3365		chr7	TogoVar
KHDRBS2_chr6_61674961_62291225	61848558	T T	TACATATA others(27): Show TACATATATATGTATATATATATACATATATACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0083 a0001c0003t0003g0083	1	244	0.0041	34	c.810 others(53): Show c.810+46076_810+46077insGTGTATATATGTATATATATATACAT ATATATGT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	6/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61983238	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	244	0.0041	34	c.337 others(51): Show c.337-5027_337-5026insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	3/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	62169169	A A	ACGTATAT others(27): Show ACGTATATATATGTATATATACGTATACATATACG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	244	0.0041	34	c.219 others(51): Show c.219+8015_219+8016insCGTATATGTATACGTATATATACATATA TATACG	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	2/8			chr6	TogoVar
KHDRBS3_chr8_135452456_135652610	135485842	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG01243.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0248 a0001c0001t0003g0340 a0001c0001t0001g0248 a0001c0001t0003g0340	2	342	0.0059	34	c.88+ others(51): Show c.88+27915_88+27916insATATATATATATATATATATATATATAT ATATAT	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KHDRBS3_chr8_135452456_135652610	135599908	A A	AGCAGCAG others(27): Show AGCAGCAGTGGCAGGCACCTCCCTCACAGCACCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp2 others(118): Show HG00099.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0146 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0002g0092 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0313 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0076 a0001c0001t0003g0083 a0001c0001t0003g0088 a0001c0001t0003g0182 a0001c0001t0005g0196	121	342	0.3538	34	c.808 others(51): Show c.808-6924_808-6891dupCCTCACAGCACCAGGCAGCAGTGGCAGG CACCTC	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KHSRP_chr19_6408102_6429811	6419718	A A	AGGGGGGG others(27): Show AGGGGGGGGGGGGGAGGGCGGGGGAGTGACCCCCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0056 a0001c0001t0006g0056	1	386	0.0026	34	c.547 others(49): Show c.547+354_547+355insGGGGGGTCACTCCCCCGCCCTCCCCCCCCC CCCC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding	6/18			chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429142	A A	AATATATA others(27): Show AATATATATGTTATATATATATATTATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0121 a0001c0007t0001g0121	1	386	0.0026	34	c.-44 others(45): Show c.-4442_-4441insACATATATATAATATATATATATAACATATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4332		chr19	TogoVar
KIAA0319_chr6_24539107_24651191	24579401	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0026 a0005c0006t0026	a0005c0006t0026g0225 a0005c0006t0026g0225	1	300	0.0033	34	c.137 others(51): Show c.1372+456_1372+457insTATATATATATATATATATATATATATA TATATA	KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding	8/20			chr6	TogoVar
KIAA0586_chr14_58422719_58556297	58484890	T T	TTATATAT others(27): Show TTATATATATATATTTATATATATTTTTATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp1 HG02258.hp2 others(3): Show HG00544.hp2 HG00738.hp1 HG02258.hp2 HG02922.hp2 HG03041.hp1 NA18941.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0003g0138 others(3): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0003g0138 a0001c0001t0004g0046 a0001c0001t0004g0268 a0002c0002t0001g0070	6	300	0.0200	34	c.314 others(53): Show c.3145-2104_3145-2103insTTATATATATTTTTATATATATATAT ATATATAT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0586_chr14_58422719_58556297	58484924	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	300	0.0033	34	c.314 others(53): Show c.3145-2082_3145-2081insATATATATATATATATATATATATAT TTTTTTTT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCCCC others(27): Show CCCCCCCCACCACTCACCCGAAAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0121 a0001c0010t0121	a0001c0010t0121g0392 a0001c0010t0121g0392	1	398	0.0025	34	c.64+ others(51): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG GGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228789	A A	ACTCACCT others(27): Show ACTCACCTGAGAGATCCCTCTCCACCCCCGCCATC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0011 a0001c0001t0069g0011	1	398	0.0025	34	c.64+ others(51): Show c.64+11850_64+11851insGATGGCGGGGGTGGAGAGGGATCTCTCA GGTGAG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229137	A A	ACACTCAC others(27): Show ACACTCACCTGAGAGATCCCTCTCCACCCCCCAAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18989.hp2 NA18991.hp2 others(1): Show HG02300.hp1 NA18989.hp2 NA18991.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0077 others(1): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0077 a0001c0001t0078	a0001c0001t0003g0283 a0001c0001t0013g0282 a0001c0001t0077g0281 others(1): Show a0001c0001t0003g0283 a0001c0001t0013g0282 a0001c0001t0077g0281 a0001c0001t0078g0284	4	398	0.0101	34	c.64+ others(51): Show c.64+11502_64+11503insGTTGGGGGGTGGAGAGGGATCTCTCAGG TGAGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229215	A A	ACTCACCC others(27): Show ACTCACCCGAAAGATCCCTCCCCATCCCCCCCACC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0008 a0001c0001t0037g0008	1	398	0.0025	34	c.64+ others(51): Show c.64+11424_64+11425insGGTGGGGGGGATGGGGAGGGATCTTTCG GGTGAG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229252	C C	CACCACTC others(27): Show CACCACTCACCTGAGAGATCCCTCTCCACCCCCCA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0365 a0001c0001t0009g0365	1	398	0.0025	34	c.64+ others(51): Show c.64+11387_64+11388insTGGGGGGTGGAGAGGGATCTCTCAGGTG AGTGGT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1210_chrX_119073635_119132812	119125714	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0153 a0002c0002t0002g0153	1	261	0.0038	34	c.-11 others(51): Show c.-11+2012_-11+2013insATATATATATATATATATATATATATAT ATATAT	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1328_chr18_36824127_37230334	36883952	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02300.hp2 others(5): Show HG01069.hp1 HG01071.hp1 HG02300.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0067 a0001c0002t0001g0071 others(5): Show a0001c0002t0001g0062 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0081	8	200	0.0400	34	c.333 others(51): Show c.333-1587_333-1586insTATATATATATATATATATATATATATA TATATA	KIAA1328	ENSG00000150477.15	transcript	ENST00000280020.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar

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