Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FOXN3_chr14_89151177_89422233	89362254	ACCACCAC others(161): Show ACCACCACCACCTCCTCCTCCTCCACCACCACCACCTCCACCACCACCAC CACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCACCA CCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACC ACCACCACCTCCTCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0183 a0001c0001t0011g0183	1	230	0.0044	-168	c.544 others(19): Show c.544-11614_544-11447del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362445	CAGCACCA others(161): Show CAGCACCAGCTCCACCACCTCCTCCTCCACCACCACCACCACCACCACCA CCATCTCCACCACCACCACCACCATCTCTACGACCACCACCACCACCATC TCCACCACCACCTCCACCACCACCACCACCACCATCTCTACGACCACCAC CACCACCACCATCTCTACG	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18967.hp1 NA19007.hp2 HG02738.hp1 NA18967.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0020 a0001c0001t0001g0081 a0001c0001t0021g0025 a0001c0001t0001g0020 a0001c0001t0001g0081 a0001c0001t0021g0025	3	230	0.0130	-168	c.544 others(19): Show c.544-11805_544-11638del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FZR1_chr19_3501311_3543334	3528688	CGGATGAG others(161): Show CGGATGAGAGAGTGGATGGGTGAGCAGATTAGGGAGTGGATGGGTGAGTG GATGGGAGAGTGGGTGGGTGTGTGGATGGGTGCGTGGATGGGTGCGTGGA TGGGAGAGTGGATGGGTACGTGGATGGGTGAGTGGATGGGAGAATGGATG AGAGAGTGGATGGGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00735.hp2 others(42): Show HG00140.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG04184.hp2 NA18967.hp1 NA19002.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 others(13): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0044 a0001c0001t0045 a0001c0001t0050	a0001c0001t0006g0010 a0001c0001t0006g0012 a0001c0001t0006g0013 others(38): Show a0001c0001t0006g0010 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0071 a0001c0001t0006g0076 a0001c0001t0006g0080 a0001c0001t0007g0041 a0001c0001t0007g0049 a0001c0001t0007g0051 a0001c0001t0007g0057 a0001c0001t0007g0059 a0001c0001t0007g0060 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0007g0089 a0001c0001t0010g0046 a0001c0001t0010g0047 a0001c0001t0010g0053 a0001c0001t0010g0054 a0001c0001t0010g0055 a0001c0001t0019g0079 a0001c0001t0019g0097 a0001c0001t0020g0040 a0001c0001t0020g0237 a0001c0001t0025g0075 a0001c0001t0025g0078 a0001c0001t0026g0056 a0001c0001t0026g0088 a0001c0001t0032g0052 a0001c0001t0034g0050 a0001c0001t0035g0062 a0001c0001t0036g0063 a0001c0001t0037g0061 a0001c0001t0038g0257 a0001c0001t0044g0070 a0001c0001t0045g0072 a0001c0001t0050g0058	45	314	0.1433	-168	c.654 others(16): Show c.654+894_654+1061del		FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
GAL3ST2_chr2_241771822_241809287	241807927	ACCCTCCC others(161): Show ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCGG CAGGCCACCCTCCCTCCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0129 a0002c0002t0002g0129	1	314	0.0032	-168	c.37 others(11): Show c.3762_*3929del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3641		chr2	TogoVar
GATD1_chr11_762222_782487	772175	TCGGGAGC others(161): Show TCGGGAGCCTCCGACCTCACCTCTGGCTGTGATGGGGGAGGACAGAGCAG GGAGCACAGCCTGCCTCGGCCTCCAGGCACTCACCCTGGAGCCTCCGACC TCACCTCTGGCTGTGATGGGGGAGGACAGAGCAGGGAGCACAGCGTGCCT CGGCCTCCAGGCACTCACC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19001.hp2 HG02615.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0031 a0001c0003t0004 a0001c0001t0031 a0001c0003t0004	a0001c0001t0031g0139 a0001c0003t0004g0147 a0001c0001t0031g0139 a0001c0003t0004g0147	2	430	0.0047	-168	c.450 others(14): Show c.450+84_450+251del		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding	5/7						chr11	TogoVar
GNG12_chr1_67696475_67838467	67710000	TTATATAT others(161): Show TTATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAG TTATATATATATAGTTATATATATAGTTATATATATATAGTTATATATAT AGTTATATATATAGTTATATATATAGTTATATATATAGTTATATATATAT AGTTATATATATATAGTTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02572.hp1 HG03927.hp2 HG00639.hp2 HG02572.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0035 a0001c0001t0002 a0001c0001t0035	a0001c0001t0002g0118 a0001c0001t0002g0187 a0001c0001t0035g0268 a0001c0001t0002g0118 a0001c0001t0002g0187 a0001c0001t0035g0268	3	274	0.0110	-168	c.-26 others(17): Show c.-26-2456_-26-2289del		GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3						chr1	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466543	GGAGCAGG others(161): Show GGAGCAGGAAGAGAAGATGCAAGAACAGGAGGAGAAGATGCGGAGGCAGG AGGAGAAGATAAGGGAGCAGGAGAAGAAGATACGGGAGCAGGAGGAGAAG ATACGAGAGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGTGGGA GCAGGAGGAGAAGATGTGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02132.hp1 NA18942.hp1 HG02132.hp1 NA18942.hp1	a0035 a0037 a0035 a0037	a0035c0047 a0037c0041 a0035c0047 a0037c0041	a0035c0047t0001 a0037c0041t0002 a0035c0047t0001 a0037c0041t0002	a0035c0047t0001g0028 a0037c0041t0002g0001 a0035c0047t0001g0028 a0037c0041t0002g0001	2	226	0.0089	-168	c.234 others(9): Show c.2343_2510del	p.Ile others(13): Show p.Ile781_Lys836del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	2434/4401	2343/2565	781/854		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20534338	TTCTCCTC others(161): Show TTCTCCTCCTGTTCTTGCATCTTCTCTTCCTGCTCACACATCTTCTCCTC CTGCTCCCACATCTTCTCTTCCTGTTCCTGCATCATCTCCTCCTGCTCTC GTATCTTCTCCTCCTGCTCCCGTATCTTCTTCTCCTGCTCCCTTATCTTC TCCTCCTGCCTCCACATCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01071.hp2 HG01255.hp1 HG01257.hp2 others(7): Show HG01071.hp2 HG01255.hp1 HG01257.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG02257.hp2 HG03927.hp2	a0010 a0014 a0015 others(1): Show a0010 a0014 a0015 a0022	a0010c0013 a0010c0029 a0014c0015 others(2): Show a0010c0013 a0010c0029 a0014c0015 a0015c0017 a0022c0024	a0010c0013t0007 a0010c0029t0007 a0014c0015t0007 others(2): Show a0010c0013t0007 a0010c0029t0007 a0014c0015t0007 a0015c0017t0009 a0022c0024t0007	a0010c0013t0007g0012 a0010c0029t0007g0053 a0014c0015t0007g0013 others(3): Show a0010c0013t0007g0012 a0010c0029t0007g0053 a0014c0015t0007g0013 a0015c0017t0009g0039 a0015c0017t0009g0040 a0022c0024t0007g0032	10	214	0.0467	-168	c.192 others(9): Show c.1928_2095del	p.Thr others(13): Show p.Thr643_Glu698del	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	2186/4013	1928/2175	643/724			chr15	TogoVar
GPSM1_chr9_136322539_136364601	136355371	CCTGGGGG others(161): Show CCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGG AGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAG CCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGC CGAGGGTGGGTGACACGTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0023 a0001c0006t0023	a0001c0006t0023g0085 a0001c0006t0023g0085	1	400	0.0025	-168	c.145 others(17): Show c.1456-300_1456-133del		GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
HACD3_chr15_65525463_65583349	65581273	GGGAGGCT others(161): Show GGGAGGCTGAGGCAGGAGAATTGTTTGAGCCCGCGAGGCGGAGGTTGCAG TGAGCTGAGATCGTGCTACTGCACTCCAGCCTGGCCGACAGAGTGAGACT CTGTCTCAAAAACAAAAAAACAAAAATTAGCTGGGCGTGGTGGCACGTGC CTGTAGTACTAGCTACTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01070.hp1 others(67): Show HG00140.hp1 HG00323.hp2 HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18941.hp1 NA18990.hp1 NA19002.hp2 NA19005.hp2 NA19030.hp2 NA19072.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 a0001c0002t0018 a0001c0002t0020 a0003c0005t0002	a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0196 others(62): Show a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0012g0024 a0001c0001t0012g0025 a0001c0002t0002g0002 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0208 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0233 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0254 a0001c0002t0018g0218 a0001c0002t0020g0251 a0003c0005t0002g0002	70	328	0.2134	-168	c.48 others(11): Show c.4895_*5062del		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding					2925		chr15	TogoVar
HACL1_chr3_15555699_15606569	15592857	CATGTGTG others(161): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATA CACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCG TGTATACACATGTACGCAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01109.hp2 HG01255.hp2 others(6): Show HG00597.hp2 HG01109.hp2 HG01255.hp2 HG02004.hp2 HG02486.hp1 HG02647.hp2 HG03195.hp2 NA19030.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(6): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0280 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0321 a0003c0006t0001g0331	9	428	0.0210	-168	c.228 others(17): Show c.228-1345_228-1178del		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16						chr3	TogoVar
HDAC4_chr2_239043168_239406020	239184386	CCAGTGTC others(161): Show CCAGTGTCTGTCCTGGAGGCTGTGCCCTATGGGGGGGTCCCTCAGTGTCT GTCCTGGAGGCTGTGCCCTATGAGGGGGGGTCCCTCAGTGTCTGTCCTGG AGGCTGTGCCCTATGGGGGGGGGTCCCCCAGTGTCTGTCCTGGAGGCTGT GCCCTATGGGGTGGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0088 a0001c0001t0057g0088	1	242	0.0041	-168	c.339 others(17): Show c.339+5279_339+5446del		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	4/26						chr2	TogoVar
HRH3_chr20_62209960_62225278	62213438	GGGAGGGA others(161): Show GGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGTAAGG AGAGCGGGGATGGGGGGTAAGGAGAGCGGGGATGGGGGAAGGAGAGCGGG GATGGGGGAAGGGAGAGCAGGGATGGGGGGGAAGGAGAGCGGGGATGGGT GGGGGAAGGAGAGCGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01255.hp2 NA20129.hp1 HG01081.hp2 HG01255.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	3	368	0.0082	-168	c.24 others(11): Show c.2400_*2567del		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1521		chr20	TogoVar
INTS14_chr15_65573757_65616131	65581273	GGGAGGCT others(161): Show GGGAGGCTGAGGCAGGAGAATTGTTTGAGCCCGCGAGGCGGAGGTTGCAG TGAGCTGAGATCGTGCTACTGCACTCCAGCCTGGCCGACAGAGTGAGACT CTGTCTCAAAAACAAAAAAACAAAAATTAGCTGGGCGTGGTGGCACGTGC CTGTAGTACTAGCTACTCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01070.hp1 others(63): Show HG00140.hp1 HG00323.hp1 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp2 HG02109.hp2 HG02145.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03927.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18941.hp1 NA18985.hp2 NA18990.hp1 NA19002.hp1 NA19005.hp2 NA19030.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0021 others(42): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0006g0024 a0001c0001t0008g0040 a0001c0001t0010g0140	66	322	0.2050	-168	c.130 others(17): Show c.1305+513_1305+680del		INTS14	ENSG00000138614.16	transcript	ENST00000313182.7	protein_coding	11/11						chr15	TogoVar
IQCG_chr3_197884077_197964991	197921011	TGACTACT others(161): Show TGACTACTGGTTTTCAGTAACTCCGGGGATTTAACCTGATTTCATCTTGG TCGACCCGACTACTGGTTTTCAGTAACTCCGGGGATTTCACCTGATTTCA TCTTGGTCGACCCGACTACTGGTTTTCAGTAACTCCGGGGATGTAACCTG ATTTCATCTTGGTCGACCC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02109.hp2 HG02622.hp2 others(5): Show HG01361.hp2 HG02109.hp2 HG02622.hp2 HG02818.hp2 HG02895.hp1 HG03130.hp2 NA18906.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0087 a0002c0002t0001g0088 others(5): Show a0002c0002t0001g0071 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0098	8	280	0.0286	-168	c.726 others(17): Show c.726+4845_726+5012del		IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	7/11						chr3	TogoVar
IQCG_chr3_197884077_197964991	197921830	CTGATTTC others(161): Show CTGATTTCATCTTGATTGACCCGACTACTGGTTTTCAGTAACTCTGGGGA TTTCACCTGATTTCATCTTGGTTGACCCGACTACTGGTTTTCAGTAACTC TGGGGATTTCACCTGGTTTCATCTTGGTTGACCTGACTACTGGTTTTCAG TAACTCTGGCGATTTAACT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01891.hp2 HG01975.hp1 others(21): Show HG00423.hp2 HG01891.hp2 HG01975.hp1 HG02027.hp1 HG02451.hp1 HG02559.hp2 HG02717.hp2 HG03017.hp2 HG03209.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1 HG04115.hp1 HG04228.hp1 NA18612.hp1 NA18943.hp2 NA18954.hp2 NA18966.hp1 NA18970.hp1 NA18977.hp1 NA19003.hp2 NA19043.hp1 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0005c0008	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0005c0008t0001	a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0003t0001g0028 others(21): Show a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0055 a0001c0003t0001g0099 a0001c0003t0001g0132 a0001c0003t0002g0019 a0001c0004t0001g0020 a0001c0004t0001g0050 a0001c0004t0001g0122 a0005c0008t0001g0059	24	280	0.0857	-168	c.726 others(17): Show c.726+4026_726+4193del		IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	7/11						chr3	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406393	TCTCGTCT others(161): Show TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0159 a0001c0001t0019g0159	1	276	0.0036	-168	c.27 others(9): Show c.273_*440del		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				273		chr2	TogoVar
ITGB3BP_chr1_63435770_63528225	63473801	GTCAGCCC others(161): Show GTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00621.hp1 others(53): Show HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01358.hp2 HG01884.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02071.hp2 HG02300.hp1 HG02523.hp1 HG02809.hp1 HG02886.hp1 HG03130.hp1 HG03209.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp2 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp2 NA18969.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18991.hp2 NA18995.hp1 NA19002.hp1 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19086.hp2 NA19090.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0001t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0231 a0001c0001t0001g0232 others(53): Show a0001c0001t0001g0011 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0336 a0001c0001t0003g0296 a0001c0001t0003g0319 a0001c0001t0003g0321 a0001c0003t0001g0285 a0001c0003t0001g0301	56	374	0.1497	-168	c.254 others(17): Show c.254+4795_254+4962del		ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8						chr1	TogoVar
ITIH2_chr10_7698316_7754520	7737825	CTATATTA others(161): Show CTATATTATATTCTATATATTATATATTATATTCTATATATTATATATTA TATTCTATATATTATATATTATATTCTATATATTATATATTATATTCTAT ATATTATATATTATATTCTATATATTATATATTATATTCTATATATTATA TATTATATTCTATATATTA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp2 HG02723.hp1 others(2): Show HG02559.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 NA19085.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0019 a0001c0001 a0001c0002 a0009c0019	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0009c0019t0001	a0001c0001t0001g0014 a0001c0002t0001g0351 a0001c0002t0001g0352 others(2): Show a0001c0001t0001g0014 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0004g0287 a0009c0019t0001g0353	5	380	0.0132	-168	c.195 others(17): Show c.1958-590_1958-423del		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF25_chr6_167992671_168050091	168001986	AGCCTCAG others(161): Show AGCCTCAGGCAGGTGAGAAAGACACCTGAGGCGTGGCCTCGGGCAGGTGA GAAGACACCTGAGGCATGGCCTCGGGCAGGTGAGAAGACACCTTCAGGCG TAGCCTCGGGCAGGTGAGAAAGACACCTGAGGCGTGGCCTCGGGCAGGTG AGAAGACACCTGAGGCGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00733.hp2 others(23): Show HG00280.hp1 HG00323.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01516.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02523.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02886.hp2 HG03471.hp2 HG03516.hp1 HG03710.hp1 NA18957.hp2 NA18966.hp2 NA18973.hp2 NA18995.hp1 NA19072.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0025 others(1): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0025 a0001c0001t0039	a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0021 others(21): Show a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0148 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0161 a0001c0001t0012g0142 a0001c0001t0012g0143 a0001c0001t0012g0156 a0001c0001t0012g0159 a0001c0001t0012g0160 a0001c0001t0025g0149 a0001c0001t0025g0153 a0001c0001t0039g0147	26	375	0.0693	-168	c.-36 others(17): Show c.-369-551_-369-384del		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF3C_chr2_25921598_25987497	25962799	TATAATAT others(161): Show TATAATATATAATATATATAATATATAAAATATATAAAATATATAATATA TAATATAATATATAATATATATAATATATAAAATATATATAATATAAAAT ATATATAATATATAATATATATAATATATAATACATATAATATATAATAT ATAATATATAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0025 a0001c0005t0001g0025	1	240	0.0042	-168	c.154 others(19): Show c.1546-6523_1546-6356del		KIF3C	ENSG00000084731.15	transcript	ENST00000264712.8	protein_coding	1/7						chr2	TogoVar
KLK7_chr19_50971468_50988917	50975123	CTCCTGGG others(161): Show CTCCTGGGTCTGAGGGAGGAGGGGCTGGCGGGGGGGGGGGTCTGAACTCC TGGGTCTGAGGGAGGAGGGGCTGGGGGTAGTCTAGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGGGGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGGGGGAGTCTGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-168	c.22 others(11): Show c.2245_*2412del		KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding					1344		chr19	TogoVar
KNDC1_chr10_133155219_133231412	133221809	GCTCACGC others(161): Show GCTCACGCCTGTAACCCTAGGTAGGCCGGGCTGGGTGCAGCCACTCACGC CTGTAACCCTAGGTGGGCAGGGCTGGGTGCAGCCACTCACGCCTGTAACC CTAGGTAGGCCGGGCTGGGTGCAGCCACTCACGCCTGTAACCCTAGGTGG GCCGGGCTGGGTGCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp1 HG01109.hp2 HG01255.hp1	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0002 a0004c0028t0002	a0004c0028t0002g0134 a0004c0028t0002g0137 a0004c0028t0002g0134 a0004c0028t0002g0137	2	332	0.0060	-168	c.501 others(19): Show c.5018+1719_5018+1886del		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133221831	AGGCCGGG others(161): Show AGGCCGGGCTGGGTGCAGCCACTCACGCCTGTAACCCTAGGTGGGCAGGG CTGGGTGCAGCCACTCACGCCTGTAACCCTAGGTAGGCCGGGCTGGGTGC AGCCACTCACGCCTGTAACCCTAGGTGGGCCGGGCTGGGTGCAGCCACTC ACGCCTGTAACCCTAGGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(138): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0011 a0012 a0013 a0014 a0016 a0017 a0022 a0024 a0025 a0026 a0027 a0029	a0001c0001 a0001c0004 a0001c0068 others(35): Show a0001c0001 a0001c0004 a0001c0068 a0002c0002 a0002c0005 a0002c0006 a0002c0022 a0002c0041 a0002c0043 a0002c0058 a0002c0061 a0003c0015 a0003c0016 a0003c0032 a0004c0007 a0004c0024 a0004c0063 a0005c0012 a0005c0021 a0005c0048 a0005c0065 a0007c0009 a0009c0013 a0011c0051 a0012c0018 a0012c0045 a0013c0023 a0013c0060 a0014c0066 a0014c0067 a0016c0029 a0017c0057 a0022c0030 a0024c0059 a0025c0062 a0026c0042 a0027c0046 a0029c0069	a0001c0001t0002 a0001c0004t0002 a0001c0068t0002 others(42): Show a0001c0001t0002 a0001c0004t0002 a0001c0068t0002 a0002c0002t0002 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0025 a0002c0005t0002 a0002c0005t0024 a0002c0006t0004 a0002c0006t0010 a0002c0022t0002 a0002c0041t0004 a0002c0043t0002 a0002c0058t0002 a0002c0061t0002 a0003c0015t0002 a0003c0016t0006 a0003c0032t0010 a0004c0007t0002 a0004c0024t0004 a0004c0063t0002 a0005c0012t0002 a0005c0021t0004 a0005c0048t0002 a0005c0065t0002 a0007c0009t0002 a0009c0013t0002 a0011c0051t0002 a0012c0018t0006 a0012c0045t0006 a0013c0023t0004 a0013c0060t0002 a0014c0066t0002 a0014c0067t0002 a0016c0029t0002 a0017c0057t0002 a0022c0030t0010 a0024c0059t0002 a0025c0062t0002 a0026c0042t0004 a0027c0046t0002 a0029c0069t0002	a0001c0001t0002g0081 a0001c0001t0002g0193 a0001c0001t0002g0205 others(136): Show a0001c0001t0002g0081 a0001c0001t0002g0193 a0001c0001t0002g0205 a0001c0004t0002g0211 a0001c0068t0002g0114 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0016 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0049 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0106 a0002c0002t0002g0115 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0128 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0250 a0002c0002t0002g0255 a0002c0002t0014g0145 a0002c0002t0015g0148 a0002c0002t0017g0090 a0002c0002t0018g0037 a0002c0002t0025g0028 a0002c0005t0002g0025 a0002c0005t0002g0070 a0002c0005t0002g0084 a0002c0005t0002g0085 a0002c0005t0002g0103 a0002c0005t0002g0110 a0002c0005t0002g0116 a0002c0005t0002g0159 a0002c0005t0002g0160 a0002c0005t0002g0161 a0002c0005t0002g0214 a0002c0005t0002g0216 a0002c0005t0002g0226 a0002c0005t0024g0095 a0002c0006t0004g0280 a0002c0006t0004g0282 a0002c0006t0004g0287 a0002c0006t0004g0288 a0002c0006t0004g0292 a0002c0006t0004g0293 a0002c0006t0004g0294 a0002c0006t0004g0295 a0002c0006t0004g0298 a0002c0006t0004g0311 a0002c0006t0010g0315 a0002c0022t0002g0096 a0002c0041t0004g0274 a0002c0043t0002g0062 a0002c0058t0002g0003 a0002c0061t0002g0061 a0003c0015t0002g0237 a0003c0016t0006g0117 a0003c0016t0006g0118 a0003c0016t0006g0225 a0003c0032t0010g0308 a0004c0007t0002g0053 a0004c0007t0002g0054 a0004c0007t0002g0063 a0004c0007t0002g0067 a0004c0007t0002g0068 a0004c0007t0002g0077 a0004c0007t0002g0078 a0004c0007t0002g0179 a0004c0024t0004g0010 a0004c0063t0002g0027 a0005c0012t0002g0026 a0005c0012t0002g0030 a0005c0012t0002g0031 a0005c0012t0002g0051 a0005c0012t0002g0156 a0005c0012t0002g0251 a0005c0012t0002g0254 a0005c0021t0004g0286 a0005c0021t0004g0289 a0005c0048t0002g0173 a0005c0065t0002g0040 a0007c0009t0002g0131 a0009c0013t0002g0229 a0009c0013t0002g0230 a0009c0013t0002g0231 a0009c0013t0002g0232 a0009c0013t0002g0233 a0009c0013t0002g0234 a0009c0013t0002g0235 a0011c0051t0002g0024 a0012c0018t0006g0267 a0012c0045t0006g0244 a0013c0023t0004g0305 a0013c0023t0004g0306 a0013c0060t0002g0086 a0014c0066t0002g0111 a0014c0067t0002g0015 a0016c0029t0002g0150 a0017c0057t0002g0074 a0022c0030t0010g0309 a0024c0059t0002g0008 a0025c0062t0002g0042 a0026c0042t0004g0281 a0027c0046t0002g0098 a0029c0069t0002g0170	141	332	0.4247	-168	c.501 others(19): Show c.5018+1728_5018+1895del		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
LIPG_chr18_49557057_49604185	49579001	GGGGAGAG others(161): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02300.hp2 HG02004.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0209 a0001c0001t0001g0212	2	384	0.0052	-168	c.794 others(17): Show c.794-2344_794-2177del		LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
LLGL2_chr17_75520697_75580209	75546614	GCGGAGGG others(161): Show GCGGAGGGCAGGTCCAGCAGACAGGCGGAGGGCAGGTCCAGCAGACAGGC GGAGGGCAGGTCCAGCAGACAGGCGGAGGGCAGGTCCAGCAGACAGACGG AGGGCAGGTCCAGCAGACAGGCGGAGGGCAGGTCCAGCAGACAGGCGGAG GGCAGGTCCAGCAGACAGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0003 a0002c0055t0003	a0002c0055t0003g0215 a0002c0055t0003g0215	1	382	0.0026	-168	c.75+ others(15): Show c.75+3203_75+3370del		LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
LRGUK_chr7_134122340_134269595	134231555	CCTTCCTC others(161): Show CCTTCCTCCCTTCCTTCCTCCCGTTCTCCCTCCCTTCCTCCCTTCCTTCC TCCCTCCGTCCCTCTCTTCCTCCCTCCGTCCCTCCCTTCCTCCCTTCCTT CCTCCCTCCGTCCCTCTCTTCCTCCCTCCGTCCCTCCCTTCCTCCCTTCC TTCCTCCCGTTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp2 HG01255.hp2 others(3): Show HG00639.hp2 HG01192.hp2 HG01255.hp2 HG01361.hp1 HG02895.hp1 HG03516.hp1	a0004 a0004	a0004c0005 a0004c0007 a0004c0005 a0004c0007	a0004c0005t0004 a0004c0007t0003 a0004c0007t0004 a0004c0005t0004 a0004c0007t0003 a0004c0007t0004	a0004c0005t0004g0213 a0004c0005t0004g0214 a0004c0005t0004g0215 others(3): Show a0004c0005t0004g0213 a0004c0005t0004g0214 a0004c0005t0004g0215 a0004c0007t0003g0004 a0004c0007t0004g0002 a0004c0007t0004g0003	6	220	0.0273	-168	c.198 others(19): Show c.1983+9669_1983+9836del		LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	16/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
LRRC27_chr10_132327193_132386508	132358621	CGTGGGGA others(161): Show CGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGG TGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGGAGC CAAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGG GGAGGAGCCGAGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	290	0.0035	-168	c.117 others(19): Show c.1170+2736_1171-2668del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10						chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358882	GAGGAGCC others(161): Show GAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGC AGTGTGGGGAGGAGCCAAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGT GGAGCGTGGGAAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAG GTGATGGAGCAGTGTGGGG	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	290	0.0035	-168	c.117 others(19): Show c.1171-2552_1171-2385del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LYRM4_chr6_5103419_5265950	5135122	ACTGTGGA others(161): Show ACTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGTGCGGTTCTCT CCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGG TTCACTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGACTGTGGAGG GTGCGGATCGCTCCTGGGG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0218 a0002c0002t0005g0218	1	286	0.0035	-168	c.208 others(19): Show c.208-25799_208-25632del		LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2						chr6	TogoVar
LYRM4_chr6_5103419_5265950	5135150	GCTGTGGA others(161): Show GCTGTGGAGGGTGCGGTTCTCTCCCGGGGCTGTGGAGGGTGCGGTTCACT CCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGG TTCACTCCCGGGACTGTGGAGGGTGCGGATCGCTCCTGGGGCTGTGGAGG GTGCGGTTCACTCCCGGGA	G G	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	286	0.0035	-168	c.208 others(19): Show c.208-25827_208-25660del		LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2						chr6	TogoVar
MAD1L1_chr7_1810795_2237945	1991341	ACCGCTGG others(161): Show ACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	264	0.0038	-168	c.141 others(21): Show c.1416+10556_1416+10723del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18						chr7	TogoVar
MEGF6_chr1_3482951_3616508	3583610	GCGCAGCC others(161): Show GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCACAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAG CCACAGCCACCAGACAACC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp1 HG03516.hp1 others(1): Show HG02451.hp1 HG02896.hp1 HG03516.hp1 NA18906.hp1	a0022 a0023 a0095 a0022 a0023 a0095	a0022c0032 a0023c0034 a0095c0048 a0022c0032 a0023c0034 a0095c0048	a0022c0032t0008 a0023c0034t0004 a0095c0048t0008 a0022c0032t0008 a0023c0034t0004 a0095c0048t0008	a0022c0032t0008g0089 a0023c0034t0004g0088 a0023c0034t0004g0090 others(1): Show a0022c0032t0008g0089 a0023c0034t0004g0088 a0023c0034t0004g0090 a0095c0048t0008g0091	4	292	0.0137	-168	c.377 others(17): Show c.377-3849_377-3682del		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MELTF_chr3_196996740_197034817	197030146	GCACAGCT others(161): Show GCACAGCTGCACAGAGGATCTGGGATACGGGGGAGCCCAGGCCGAGCGCC CTGGCGAGGGGGGAGCCGGGCAGGGGCATCTCGGCCACAGCTGCACAGAG GATCTGGGATACGGGGGAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGAGC CGGGCAGGGGCATCTCGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(108): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02698.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03704.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18973.hp1 NA18980.hp2 NA18983.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19006.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp2	a0001 a0004 a0006 others(4): Show a0001 a0004 a0006 a0010 a0011 a0012 a0020	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0014 a0001c0018 a0001c0020 a0004c0006 a0006c0027 a0010c0031 a0011c0028 a0012c0023 a0020c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0002t0011 a0001c0002t0015 a0001c0002t0031 a0001c0002t0055 a0001c0003t0001 a0001c0013t0009 a0001c0014t0003 a0001c0018t0001 a0001c0020t0001 a0004c0006t0020 a0006c0027t0001 a0010c0031t0001 a0011c0028t0041 a0012c0023t0001 a0020c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(78): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0138 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0296 a0001c0001t0002g0105 a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0001t0002g0186 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0241 a0001c0001t0003g0202 a0001c0001t0003g0278 a0001c0001t0007g0090 a0001c0001t0008g0137 a0001c0001t0008g0172 a0001c0001t0008g0190 a0001c0001t0008g0196 a0001c0001t0008g0216 a0001c0001t0008g0223 a0001c0001t0011g0165 a0001c0001t0030g0046 a0001c0001t0033g0173 a0001c0001t0034g0189 a0001c0001t0036g0130 a0001c0002t0001g0008 a0001c0002t0001g0017 a0001c0002t0001g0163 a0001c0002t0001g0230 a0001c0002t0001g0242 a0001c0002t0004g0009 a0001c0002t0004g0010 a0001c0002t0004g0051 a0001c0002t0004g0134 a0001c0002t0004g0147 a0001c0002t0004g0151 a0001c0002t0004g0161 a0001c0002t0004g0162 a0001c0002t0004g0251 a0001c0002t0008g0159 a0001c0002t0011g0207 a0001c0002t0015g0166 a0001c0002t0031g0234 a0001c0002t0055g0248 a0001c0003t0001g0102 a0001c0003t0001g0199 a0001c0013t0009g0225 a0001c0014t0003g0304 a0001c0018t0001g0219 a0001c0020t0001g0220 a0004c0006t0020g0211 a0006c0027t0001g0136 a0010c0031t0001g0232 a0011c0028t0041g0233 a0012c0023t0001g0187 a0020c0019t0001g0168	111	420	0.2643	-168	c.-61 others(9): Show c.-612_-445del		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					330		chr3	TogoVar
METAP1D_chr2_171994953_172087430	172042504	TATACATA others(161): Show TATACATATGTATGTGTACATGTGTACATATATACATATATGTGTGTATG TGTACATGTGCACATATATACATATATGTGTGTATGTGTACATGTGCACA TATATACATATATGTGTGTATGTGTACACATATACATATGTGTGTATGTG TATATGTGTACACATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(120): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0003c0005 others(1): Show a0001c0001 a0001c0003 a0003c0005 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0003t0006 a0003c0005t0003 a0004c0004t0001	a0001c0001t0001g0039 a0001c0001t0001g0087 a0001c0001t0001g0101 others(120): Show a0001c0001t0001g0039 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0199 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0311 a0001c0001t0001g0325 a0001c0001t0001g0334 a0001c0001t0001g0338 a0001c0001t0001g0345 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0002g0100 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0137 a0001c0001t0002g0147 a0001c0001t0002g0175 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0255 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0300 a0001c0001t0002g0308 a0001c0001t0003g0051 a0001c0001t0003g0072 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0095 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0146 a0001c0001t0003g0156 a0001c0001t0003g0208 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0254 a0001c0001t0003g0275 a0001c0001t0003g0303 a0001c0001t0003g0349 a0001c0001t0004g0125 a0001c0001t0004g0160 a0001c0001t0004g0264 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0279 a0001c0001t0004g0292 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0346 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0005g0140 a0001c0001t0005g0148 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0287 a0001c0001t0005g0297 a0001c0001t0005g0312 a0001c0001t0007g0261 a0001c0001t0007g0269 a0001c0001t0012g0327 a0001c0001t0018g0015 a0001c0003t0006g0157 a0001c0003t0006g0299 a0001c0003t0006g0354 a0003c0005t0003g0038 a0004c0004t0001g0347	123	356	0.3455	-168	c.41- others(17): Show c.41-18993_41-18826del		METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9						chr2	TogoVar
MROH2A_chr2_233773330_233838418	233790502	TTCCTTTT others(161): Show TTCCTTTTTAATTGCCTGCCTTACTTACTCTTTCCCCTCCCTCCCCCTTT CTTTTTCTCCTTCCTTCCTTCCTTCCTCCCTCCCCTCCCCTTTCCCTCAC CTCCCCTCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01243.hp1 HG01943.hp2 others(3): Show HG00408.hp1 HG01243.hp1 HG01943.hp2 HG02004.hp1 HG02293.hp1 NA18941.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0078	a0001c0087 a0004c0010 a0005c0012 others(1): Show a0001c0087 a0004c0010 a0005c0012 a0078c0084	a0001c0087t0001 a0004c0010t0001 a0005c0012t0001 others(1): Show a0001c0087t0001 a0004c0010t0001 a0005c0012t0001 a0078c0084t0001	a0001c0087t0001g0164 a0004c0010t0001g0237 a0005c0012t0001g0162 others(3): Show a0001c0087t0001g0164 a0004c0010t0001g0237 a0005c0012t0001g0162 a0005c0012t0001g0168 a0005c0012t0001g0175 a0078c0084t0001g0169	6	378	0.0159	-168	c.571 others(15): Show c.571+489_571+656del		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41						chr2	TogoVar
MXRA8_chr1_1347691_1363555	1350755	CTGGACGG others(161): Show CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	338	0.0030	-168	c.26 others(11): Show c.2681_*2848del		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					1935		chr1	TogoVar
MYDGF_chr19_4652545_4675342	4671892	CATATATT others(161): Show CATATATTCACATATGTGAATATATATATTCATATATTCACATATGTGAA TATATATATTCATATATTCACATATGTGAATATATATATTCATATATTCA CATATGTGAATATATATATTCATATATTCACATATGTGAATATATATTCA TATATTCACATATGTGAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0142 a0002c0002t0002g0142	1	410	0.0024	-168	c.-17 others(11): Show c.-1726_-1559del		MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding					1551		chr19	TogoVar
MYZAP_chr15_57586904_57690364	57687772	TATATAAT others(161): Show TATATAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATA TACACATATATATAATATGTGTGTACAATATACACATATATAATATGTGT GTACAATATACACATATATAATATGTGTGTACAATATACACATATATAAT ATGTGTGTACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01069.hp1 HG01070.hp1 others(5): Show HG00621.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG03017.hp1 NA18944.hp1 NA18980.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0005 a0001c0001t0001 a0002c0002t0002 a0002c0002t0005	a0001c0001t0001g0008 a0001c0001t0001g0249 a0002c0002t0002g0003 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0249 a0002c0002t0002g0003 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0097 a0002c0002t0005g0060	8	352	0.0227	-168	c.32 others(11): Show c.3275_*3442del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2409		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688234	TGTGTGTA others(161): Show TGTGTGTACAATATACACATATATTATGTGTGTACAATATACACATATAT TATGTGTGTACAATATACACATATATAATATGTGTGTACAATATACACAT ATATATAATATGTGTGTACAATATACACATATATATAATATGTGTGTACA ATATACACATATAATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0053 a0002c0002t0002g0053	1	352	0.0028	-168	c.37 others(11): Show c.3737_*3904del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2871		chr15	TogoVar
NEU4_chr2_241804193_241822413	241807564	ACCTTCCC others(161): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	-168	c.-17 others(11): Show c.-1713_-1546del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1628		chr2	TogoVar
NME7_chr1_169127531_169372797	169342787	GTATATAT others(161): Show GTATATATATATACAAGTACATATATATATAGTATATATATATACAAGTA CATATATATATAGTATATATATATACAAGTACATATATATAGTATATATA CATATATACAAGTACATATATATAGTGTATATATATATATACAAGTACAT ATATATACTTGTATTAGTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02257.hp2 others(4): Show HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02886.hp1 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010	7	302	0.0232	-168	c.4-1 others(15): Show c.4-18455_4-18288del		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NOC4L_chr12_132139457_132157468	132149972	CACACCAC others(161): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	294	0.0034	-168	c.902 others(16): Show c.902-1008_902-841del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14						chr12	TogoVar
PAM_chr5_102750305_103034716	102863015	AATTAGAG others(161): Show AATTAGAGGGAATGGACTGCCTACTTTGTAAGAGCCAAATTAGTTTTATG GTCTTCTGGACTAGGCTGTACTTAACTACCTACTAATACTCCTCCTGGAA TTAATATCCATACAGGTATAGGTTATAAATCATTCTTACCTGAAGATTTT ATGGATATGTAAACAGAAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp2 HG02257.hp2 others(9): Show HG00738.hp1 HG01255.hp2 HG02257.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0102 others(9): Show a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0184 a0001c0002t0002g0027 a0001c0002t0002g0045 a0001c0002t0002g0047	12	188	0.0638	-168	c.-37 others(19): Show c.-373-2804_-373-2637del		PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
PANX2_chr22_50165731_50185295	50172849	TTCCCAAG others(161): Show TTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTGGCTCATTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAG TATAGTGGCGCGATCTCTGCTCACTGCAAGCTTCGCCTCCTGGGTTCACA CCATTCTCCTGCCTCAGCC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01934.hp2 others(18): Show HG01516.hp1 HG01517.hp2 HG01934.hp2 HG02004.hp1 HG02015.hp1 HG02273.hp1 HG02735.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 NA18942.hp2 NA18949.hp2 NA18950.hp1 NA18961.hp1 NA18972.hp2 NA18990.hp2 NA18992.hp1 NA19004.hp2 NA19063.hp1 NA19066.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0029 a0001c0003t0002 a0002c0006t0002	a0001c0001t0001g0007 a0001c0001t0001g0061 a0001c0002t0001g0007 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0061 a0001c0002t0001g0007 a0001c0002t0001g0088 a0001c0002t0004g0007 a0001c0002t0004g0032 a0001c0002t0004g0049 a0001c0002t0004g0061 a0001c0002t0029g0147 a0001c0003t0002g0030 a0002c0006t0002g0030	21	440	0.0477	-168	c.226 others(17): Show c.226+1918_226+2085del		PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr22	TogoVar
PCGF3_chr4_700832_775089	746408	CCCCGGGG others(161): Show CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0038 a0002c0002t0003g0038	1	366	0.0027	-168	c.462 others(17): Show c.462+1728_462+1895del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDCD6_chr5_266646_319974	309566	TGTCCCCG others(161): Show TGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAT GGCCGCCGTCCCCGTGCACACCAGTGAGGGCCGCCGTCCCCGTGCACACC AGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTG CACCCCAGTGATGGCCGCC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0293 a0002c0003t0001g0293	1	360	0.0028	-168	c.368 others(17): Show c.368-1658_368-1491del		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE6B_chr4_620573_675782	634980	CGCGTGTT others(161): Show CGCGTGTTCTGTGCTGCGTGTCTGCCTCCTTACCTGCCTGCCCGCGTGTT CTGTGCTGCGCGTCCACCTCCTTACCTGCCTGCCCGCCTGCCCGTGTGTT CTCTGCTGCGTGTCTGCCTCCTTACCTGCCTGCCCGCGTGTTCTGTGCTG CGTGTCTGCCTCCTTACCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp2 HG02622.hp2 others(7): Show HG00642.hp2 HG01358.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02895.hp1 HG02922.hp1 HG03453.hp2 HG03490.hp2 NA19030.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0007	a0001c0001 a0001c0025 a0004c0007 others(2): Show a0001c0001 a0001c0025 a0004c0007 a0006c0013 a0007c0028	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0025t0001 a0004c0007t0008 a0006c0013t0010 a0007c0028t0008	a0001c0001t0001g0005 a0001c0001t0006g0255 a0001c0001t0012g0027 others(7): Show a0001c0001t0001g0005 a0001c0001t0006g0255 a0001c0001t0012g0027 a0001c0025t0001g0005 a0004c0007t0008g0252 a0004c0007t0008g0253 a0004c0007t0008g0254 a0006c0013t0010g0041 a0006c0013t0010g0042 a0007c0028t0008g0256	10	308	0.0325	-168	c.621 others(15): Show c.621+154_621+321del		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PIP4K2A_chr10_22529854_22719578	22664050	TATGTATA others(161): Show TATGTATATATACATATATATATATACGTATATATATATACATATATATA TATACATATATATATACATATATATATATACATATATATATACATATATA TACACATATATATATATACATATATATATATACATATATATACATATATA TATACATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01358.hp1 HG02622.hp1 others(4): Show HG01081.hp1 HG01358.hp1 HG02622.hp1 HG02922.hp2 HG03492.hp1 HG03540.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0015 a0001c0001 a0001c0007 a0001c0015	a0001c0001t0004 a0001c0001t0053 a0001c0007t0005 others(2): Show a0001c0001t0004 a0001c0001t0053 a0001c0007t0005 a0001c0007t0015 a0001c0015t0054	a0001c0001t0004g0090 a0001c0001t0004g0156 a0001c0001t0053g0094 others(4): Show a0001c0001t0004g0090 a0001c0001t0004g0156 a0001c0001t0053g0094 a0001c0007t0005g0123 a0001c0007t0005g0179 a0001c0007t0015g0198 a0001c0015t0054g0093	7	206	0.0340	-168	c.144 others(19): Show c.144+49965_144+50132del		PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9						chr10	TogoVar
PLEKHG4B_chr5_87168_194966	166054	GCTCTGAC others(161): Show GCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCAC ACTAATGCTCTGACGGGACGGGGCTCACACTAATGCTCTGACGGGGCGGG GCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGG GGCGGGGCTCACAGTAATC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0132 a0002c0003t0002g0132	1	210	0.0048	-168	c.347 others(19): Show c.3476+2529_3476+2696del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 10000 hits)