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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDHR2_chr5_176544342_176600824	176591689	ATGATGGT others(129): Show ATGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGATGATGACGATGGTGGTGGTGGTGGT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03453.hp1 NA19030.hp1 others(1): Show HG03139.hp2 HG03453.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0013 a0001c0005t0001g0173 a0001c0005t0001g0296 a0001c0005t0001g0013 a0001c0005t0001g0173 a0001c0005t0001g0296	4	344	0.0116	-136	c.373 others(17): Show c.3734+279_3734+414del	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDKN2A_chr9_21962752_21999392	21981042	ATATATAT others(129): Show ATATATATATATACGTGTATATATATATACGTGTATATATATATATACGT GTATATATATACGTGTATATATATATATACGTGTATATATATATATACGT GTATATATATATATACGTGTATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	404	0.0025	-136	c.194 others(17): Show c.194-9970_194-9835del	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CENPVL3_chrX_51612020_51623912	51621554	CTTCTTCT others(129): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG01070.hp1 others(36): Show HG00140.hp1 HG00597.hp2 HG01070.hp1 HG01071.hp1 HG01256.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02148.hp2 HG02698.hp1 HG02735.hp1 HG03471.hp1 HG03491.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18943.hp1 NA18951.hp2 NA18955.hp1 NA18957.hp2 NA18965.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18979.hp1 NA18986.hp1 NA19000.hp1 NA19054.hp1 NA19057.hp2 NA19082.hp1 NA19087.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0014 a0002c0002t0001 a0001c0001t0001 a0001c0001t0014 a0002c0002t0001	a0001c0001t0001g0000 a0001c0001t0014g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0001c0001t0014g0000 a0002c0002t0001g0000	39	298	0.1309	-136	c.-28 others(11): Show c.-2817_-2682del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2643		chrX	TogoVar
CEP112_chr17_65630537_66197133	65937553	TCCGGGAG others(129): Show TCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp1 HG02486.hp1 others(3): Show HG01109.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG03579.hp2 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0003 a0002c0001 a0004c0006 others(1): Show a0001c0003 a0002c0001 a0004c0006 a0006c0010	a0001c0003t0001 a0001c0003t0006 a0001c0003t0007 others(3): Show a0001c0003t0001 a0001c0003t0006 a0001c0003t0007 a0002c0001t0003 a0004c0006t0001 a0006c0010t0001	a0001c0003t0001g0009 a0001c0003t0006g0003 a0001c0003t0007g0004 others(3): Show a0001c0003t0001g0009 a0001c0003t0006g0003 a0001c0003t0007g0004 a0002c0001t0003g0019 a0004c0006t0001g0022 a0006c0010t0001g0010	6	112	0.0536	-136	c.187 others(20): Show c.1873-10000_1873-9865del	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
CHRM2_chr7_136863652_137025213	136972729	TGATGGTG others(129): Show TGATGGTGACGGTGTTAGGGATGGTGGCAGGTGACGATGGTGACGGTGTT AGGGATGGTGGCAGGTGACGATGGTGACGGTGTTAGGGATGGTGGCAGGT GACGATGGTGACGGTGTTAGGGATGGTGGCAGGTGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0059 a0001c0001t0036g0059	1	320	0.0031	-136	c.-12 others(21): Show c.-124-19220_-124-19085del	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLDN8_chr21_30209006_30221097	30210178	AATATATA others(129): Show AATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTACATATATAT ATATATATATATATATATAGTCTCCCTAATTGTAATTCAAGGTACGTATG TGTATATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02818.hp1 NA18955.hp2 HG02015.hp2 HG02818.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	466	0.0064	-136	c.49 others(11): Show c.4934_*5069del	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3827		chr21	TogoVar
CNTNAP2_chr7_146111801_148425998	147084208	CATATATG others(129): Show CATATATGCATAATGCTATATATGTATATATAATACATATATGCATAATG CTATATATGTATATATAATACATATATGCATAATGCTATATATGTATATA TAATCCATATATGCATAATGCTATATATGTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp1 HG02896.hp1 others(1): Show HG02451.hp1 HG02886.hp1 HG02896.hp1 NA19030.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0002c0016 others(1): Show a0001c0002 a0001c0003 a0002c0016 a0005c0020	a0001c0002t0001 a0001c0003t0013 a0002c0016t0004 others(1): Show a0001c0002t0001 a0001c0003t0013 a0002c0016t0004 a0005c0020t0005	a0001c0002t0001g0007 a0001c0003t0013g0010 a0002c0016t0004g0024 others(1): Show a0001c0002t0001g0007 a0001c0003t0013g0010 a0002c0016t0004g0024 a0005c0020t0005g0016	4	40	0.1000	-136	c.551 others(19): Show c.551-23904_551-23769del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76295480	TGGGAATG others(129): Show TGGGAATGATAAAAAACAGGAAATGGAGTCTAACTTGAGTCCACAGAGAC TAGATATTAAGCTGGTGAACTAACTCCTGTAAAAAGTAATAAGAGCTACA GAAAAACAGAGACAGTGACAATGCTAATAAAGAACAG	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0015 a0015	a0015c0034 a0015c0034	a0015c0034t0006 a0015c0034t0006	a0015c0034t0006g0209 a0015c0034t0006g0209	1	274	0.0037	-136	c.85+ others(17): Show c.85+17735_85+17870del	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTRL_chr9_121069955_121182610	121077715	CAGGAGGA others(129): Show CAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGAACTATAG TGAGACCCCCCATCTCTACAAAAAATAAAAAATTAGCCAAGCGTGGTTAT ATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG00741.hp1 others(68): Show HG00140.hp2 HG00597.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01346.hp1 HG01361.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02257.hp2 HG02698.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18997.hp2 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp2 NA19043.hp1 NA19058.hp2 NA19063.hp1 NA19074.hp2 NA19076.hp2 NA19084.hp2 NA19090.hp2 NA20752.hp1	a0003 a0011 a0017 a0003 a0011 a0017	a0003c0003 a0011c0013 a0017c0018 a0003c0003 a0011c0013 a0017c0018	a0003c0003t0001 a0011c0013t0001 a0017c0018t0001 a0003c0003t0001 a0011c0013t0001 a0017c0018t0001	a0003c0003t0001g0004 a0003c0003t0001g0018 a0003c0003t0001g0019 others(63): Show a0003c0003t0001g0004 a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0298 a0003c0003t0001g0299 a0003c0003t0001g0300 a0003c0003t0001g0301 a0003c0003t0001g0302 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0305 a0011c0013t0001g0248 a0011c0013t0001g0249 a0017c0018t0001g0293	71	330	0.2152	-136	c.-20 others(19): Show c.-204-2567_-204-2432del	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A2_chr13_110302284_110518209	110313545	CGTCCACC others(129): Show CGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGC TCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGCTCCCACCCCGGTGCCC CGCGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00597.hp2 others(25): Show HG00323.hp1 HG00544.hp1 HG00597.hp2 HG01884.hp2 HG02027.hp2 HG02040.hp1 HG02132.hp1 HG02155.hp2 HG02559.hp1 HG02723.hp1 HG03710.hp1 NA18612.hp1 NA18943.hp1 NA18952.hp1 NA18953.hp1 NA18970.hp1 NA18975.hp2 NA18980.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19062.hp1 NA19080.hp1 NA19088.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0016	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0025 a0001c0083 a0002c0006 a0002c0062 a0002c0087 a0002c0092 a0002c0097 a0003c0007 a0003c0039 a0003c0069 a0004c0009 a0004c0085 a0005c0021 a0016c0048	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0025t0002 a0001c0083t0001 a0002c0006t0003 a0002c0062t0047 a0002c0087t0001 a0002c0092t0001 a0002c0097t0015 a0003c0007t0002 a0003c0039t0008 a0003c0069t0009 a0004c0009t0003 a0004c0085t0001 a0005c0021t0028 a0016c0048t0005	a0001c0001t0001g0231 a0001c0001t0002g0338 a0001c0002t0001g0152 others(25): Show a0001c0001t0001g0231 a0001c0001t0002g0338 a0001c0002t0001g0152 a0001c0002t0003g0051 a0001c0003t0001g0165 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0004t0001g0150 a0001c0004t0002g0359 a0001c0004t0003g0048 a0001c0004t0004g0331 a0001c0004t0005g0229 a0001c0005t0001g0249 a0001c0005t0001g0362 a0001c0025t0002g0339 a0001c0083t0001g0191 a0002c0006t0003g0084 a0002c0062t0047g0298 a0002c0087t0001g0256 a0002c0092t0001g0230 a0002c0097t0015g0260 a0003c0007t0002g0263 a0003c0039t0008g0027 a0003c0069t0009g0008 a0004c0009t0003g0055 a0004c0085t0001g0200 a0005c0021t0028g0239 a0016c0048t0005g0206	28	372	0.0753	-136	c.99+ others(15): Show c.99+5447_99+5582del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE7_chr16_89570758_89602246	89598042	ACCCACCC others(129): Show ACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCGTCCACCCAT CCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCATCCACTCACCC ATCCGTCCACTCACCCATCCGTCCACCCATTCCCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0325 a0001c0002t0004g0325	1	348	0.0029	-136	c.14 others(11): Show c.1422_*1557del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		797		chr16	TogoVar
CSMD1_chr8_2930361_4999914	4486122	CATATATA others(129): Show CATATATATATATATACATACATATATATATATATACATACATATATATA TATACATACATATATATATATATATATACATACATATATATATATATATA TATACATACATATATATATATATACATACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(63): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0019 a0022 a0025 a0027 a0029 a0030 a0032 a0033 a0035 a0036 a0037 a0039	a0001c0001 a0001c0002 a0001c0003 others(58): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0017 a0001c0019 a0001c0021 a0001c0045 a0001c0046 a0001c0047 a0001c0061 a0001c0071 a0001c0073 a0001c0080 a0001c0090 a0001c0094 a0001c0102 a0001c0103 a0001c0105 a0001c0111 a0002c0012 a0002c0015 a0002c0022 a0002c0031 a0002c0037 a0002c0041 a0002c0048 a0002c0060 a0002c0072 a0002c0076 a0002c0089 a0002c0091 a0002c0092 a0003c0034 a0003c0057 a0004c0056 a0004c0086 a0004c0087 a0005c0065 a0005c0107 a0006c0083 a0007c0029 a0009c0113 a0010c0112 a0011c0110 a0012c0104 a0019c0018 a0022c0013 a0025c0096 a0027c0023 a0029c0028 a0030c0052 a0032c0011 a0033c0042 a0035c0098 a0036c0100 a0037c0101 a0039c0009	a0001c0001t0002 a0001c0001t0039 a0001c0002t0002 others(62): Show a0001c0001t0002 a0001c0001t0039 a0001c0002t0002 a0001c0003t0008 a0001c0003t0019 a0001c0004t0063 a0001c0005t0002 a0001c0005t0007 a0001c0006t0002 a0001c0007t0001 a0001c0007t0032 a0001c0017t0005 a0001c0019t0078 a0001c0021t0005 a0001c0045t0012 a0001c0046t0073 a0001c0047t0014 a0001c0061t0001 a0001c0071t0069 a0001c0073t0007 a0001c0080t0040 a0001c0090t0001 a0001c0094t0002 a0001c0102t0005 a0001c0103t0033 a0001c0105t0001 a0001c0111t0045 a0002c0012t0017 a0002c0015t0021 a0002c0022t0036 a0002c0031t0015 a0002c0037t0009 a0002c0041t0027 a0002c0048t0013 a0002c0060t0006 a0002c0072t0003 a0002c0076t0035 a0002c0089t0001 a0002c0091t0002 a0002c0092t0001 a0003c0034t0030 a0003c0057t0080 a0004c0056t0062 a0004c0086t0002 a0004c0087t0001 a0005c0065t0023 a0005c0107t0068 a0006c0083t0004 a0007c0029t0011 a0009c0113t0011 a0010c0112t0081 a0011c0110t0074 a0012c0104t0071 a0019c0018t0058 a0022c0013t0007 a0025c0096t0067 a0027c0023t0001 a0029c0028t0024 a0030c0052t0049 a0032c0011t0065 a0033c0042t0004 a0035c0098t0025 a0036c0100t0017 a0037c0101t0008 a0039c0009t0001	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(63): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0003t0008g0053 a0001c0003t0019g0107 a0001c0004t0063g0095 a0001c0005t0002g0111 a0001c0005t0007g0070 a0001c0006t0002g0109 a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0021t0005g0012 a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0061t0001g0021 a0001c0071t0069g0115 a0001c0073t0007g0108 a0001c0080t0040g0025 a0001c0090t0001g0027 a0001c0094t0002g0110 a0001c0102t0005g0034 a0001c0103t0033g0028 a0001c0105t0001g0029 a0001c0111t0045g0063 a0002c0012t0017g0088 a0002c0015t0021g0008 a0002c0022t0036g0048 a0002c0031t0015g0001 a0002c0037t0009g0046 a0002c0041t0027g0018 a0002c0048t0013g0015 a0002c0060t0006g0094 a0002c0072t0003g0066 a0002c0076t0035g0014 a0002c0089t0001g0037 a0002c0091t0002g0114 a0002c0092t0001g0011 a0003c0034t0030g0038 a0003c0057t0080g0075 a0004c0056t0062g0072 a0004c0086t0002g0118 a0004c0087t0001g0022 a0005c0065t0023g0050 a0005c0107t0068g0073 a0006c0083t0004g0006 a0007c0029t0011g0054 a0009c0113t0011g0043 a0010c0112t0081g0090 a0011c0110t0074g0082 a0012c0104t0071g0058 a0019c0018t0058g0068 a0022c0013t0007g0112 a0025c0096t0067g0116 a0027c0023t0001g0052 a0029c0028t0024g0040 a0030c0052t0049g0098 a0032c0011t0065g0101 a0033c0042t0004g0004 a0035c0098t0025g0019 a0036c0100t0017g0121 a0037c0101t0008g0023 a0039c0009t0001g0002	66	126	0.5238	-136	c.303 others(19): Show c.303-66193_303-66058del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1967789	CCTCCTTC others(129): Show CCTCCTTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTG CAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCACC CTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19065.hp1 NA18974.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0358 a0001c0001t0001g0338 a0001c0001t0001g0358	2	382	0.0052	-136	c.-26 others(19): Show c.-265-1714_-265-1579del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2S1_chr19_41188219_41212539	41205371	TTTCTTTC others(129): Show TTTCTTTCTTTCTCTCTCTCTCTTTCTTTCTCTCTTTCTTTCTTTCTTTC TCTCTCTCTCTCTTTCTTTCTTTTCTTTTTCTTTCTCTCTCTCTCTCTTT CTTCCTTTCTTCCTTCCTCCCTTCCTCCCTTCCTCCC	T T	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0178 a0001c0002t0002g0178	1	422	0.0024	-136	c.116 others(17): Show c.1165-583_1165-448del	CYP2S1	ENSG00000167600.14	transcript	ENST00000310054.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15673967	CTACCCAC others(129): Show CTACCCACTCACTCATTCCTCTACCCACTCACTCCTCTACCCACTCACTC ACTCCTCTACCCACTCACTCACTCCTCTCCTCACTCACTCATTCCTCTCC TCACTCACTCATTCCTCTACCCACTCACTCACTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0159 a0002c0002t0001g0159	1	410	0.0024	-136	c.198 others(15): Show c.198+242_198+377del	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH1_chr17_78669048_78787273	78760381	ATATACAC others(129): Show ATATACACACACATACATATATATATGTGTATATATATATATATACACAT ACATATATATATGTATATATATATACATACATATATATATGTATATATAT GTATGTATATATATATACATATATATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02165.hp1 HG02630.hp1 others(2): Show HG02109.hp1 HG02165.hp1 HG02630.hp1 NA18942.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013	a0001c0001t0002g0254 a0001c0001t0002g0275 a0001c0001t0002g0276 others(2): Show a0001c0001t0002g0254 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0003g0352 a0001c0001t0013g0354	5	378	0.0132	-136	c.22+ others(17): Show c.22+21685_22+21820del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051908	CGGGCGGG others(129): Show CGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAG GTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCG GGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01257.hp1 others(4): Show HG01074.hp2 HG01106.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0066 a0001c0001t0017 a0001c0001t0066	a0001c0001t0017g0004 a0001c0001t0017g0250 a0001c0001t0017g0265 others(1): Show a0001c0001t0017g0004 a0001c0001t0017g0250 a0001c0001t0017g0265 a0001c0001t0066g0266	7	408	0.0172	-136	c.-79 others(9): Show c.-798_-663del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		277		chr17	TogoVar
DDX51_chr12_132131594_132149319	132135780	CCCGAGTG others(129): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCA CCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0019 a0005c0007t0011g0019	1	334	0.0030	-136	c.33 others(11): Show c.3356_*3491del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		813		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135814	CCCGAGTG others(129): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCA CCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA19079.hp2 NA18993.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	2	334	0.0060	-136	c.33 others(11): Show c.3322_*3457del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		779		chr12	TogoVar
DLGAP2_chr8_732628_1713476	895756	CGGTGTGG others(129): Show CGGTGTGGGGCAGTGGTGAGAGGTGTCAATCCCCAGGGTTTGTTGGATGG GGATGATAGTGGCTAGGTAGGTGTGGGGCAGTGGTGAGAGGTGTCAATCC CCAGGGTTTGTTGGATGGGGATGATAGTGGCTAGGTA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG01496.hp1 others(2): Show HG00639.hp2 HG01361.hp2 HG01496.hp1 HG02647.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0010 a0002c0001 others(1): Show a0001c0002 a0001c0010 a0002c0001 a0002c0004	a0001c0002t0010 a0001c0002t0023 a0001c0010t0025 others(2): Show a0001c0002t0010 a0001c0002t0023 a0001c0010t0025 a0002c0001t0002 a0002c0004t0003	a0001c0002t0010g0008 a0001c0002t0023g0005 a0001c0010t0025g0012 others(2): Show a0001c0002t0010g0008 a0001c0002t0023g0005 a0001c0010t0025g0012 a0002c0001t0002g0013 a0002c0004t0003g0009	5	40	0.1250	-136	c.19- others(17): Show c.19-11785_19-11650del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMRT1_chr9_836697_974090	871514	TTTTTTTT others(129): Show TTTTTTTTTGGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGAT TACAGACGCGAGCCACCGCGCCGGCTAACTTTTTGTA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	306	0.0033	-136	c.539 others(19): Show c.539-22392_539-22257del	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAH9_chr17_11593470_11974748	11694634	CTTTCTTG others(129): Show CTTTCTTGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCT TTCTCGCTTTCTCGCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCT TTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0052 a0052	a0052c0084 a0052c0084	a0052c0084t0001 a0052c0084t0001	a0052c0084t0001g0169 a0052c0084t0001g0169	1	178	0.0056	-136	c.487 others(17): Show c.4872+189_4872+324del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11694638	CTTGCTTT others(129): Show CTTGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCT CGCTTTCTCGCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCT TTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0122 a0003c0006t0001g0122	1	178	0.0056	-136	c.487 others(17): Show c.4872+193_4872+328del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRG2_chr17_18082948_18112969	18090679	CGTGAGCC others(129): Show CGTGAGCCACCCCACCCGGCCAATTTTTATGTTTTTTGTAGAGGCACGGT CTCACTATGTTGCCCAGGGTAGTCTTGAACTCCCAGCCTCAAGCAGTCCT CCCTTCTCAGCTTCCCCAAAGTGTTGGGATTACAGGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	418	0.0024	-136	c.64+ others(15): Show c.64+2715_64+2850del	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
ELL2_chr5_95880098_95966851	95927401	ACACACAC others(129): Show ACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACAT ACACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACAT ACACACACGTGTGTATATAGACATACACACACGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp1 HG02976.hp2 others(1): Show HG01891.hp2 HG02896.hp1 HG02976.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0018 a0002c0002t0001 a0002c0002t0006 a0002c0002t0018	a0002c0002t0001g0121 a0002c0002t0001g0125 a0002c0002t0006g0123 others(1): Show a0002c0002t0001g0121 a0002c0002t0001g0125 a0002c0002t0006g0123 a0002c0002t0018g0132	4	314	0.0127	-136	c.196 others(17): Show c.196-7992_196-7857del	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ENTPD5_chr14_73958230_74024288	73989344	GTGAGGTC others(129): Show GTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTA TCTACTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAA TCCCAGTACTTTGGGAGGCCGAGGCGGGCGGATCACC	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03654.hp1 others(1): Show HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0072 a0001c0002t0003g0101 a0001c0002t0003g0102 others(1): Show a0001c0002t0003g0072 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103	4	380	0.0105	-136	c.-70 others(17): Show c.-70-1308_-70-1173del	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	3/15			chr14	TogoVar
EPHA2_chr1_16119337_16161069	16142627	ATGGATGG others(129): Show ATGGATGGGTGGGTTGGTGGGTGGACAGGTGGATGAGTGGATGGATGGAT GAGGGATGGATGGGTGGGTGGGTGGAGTGGTGGTTGGATGGATGGATGTA TGGATGGGTGGGGAGGATGGACAGATGAATGGACAAG	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	312	0.0032	-136	c.824 others(17): Show c.824-4333_824-4198del	EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	3/16			chr1	TogoVar
ERC1_chr12_986223_1500931	1084959	CTGAAAGT others(129): Show CTGAAAGTGCTGACATTACAGGCAATATGCCTATGCCTGGCCCATTATTA TTATTGTTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCT ATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00544.hp2 others(46): Show HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG01981.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02809.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp1 NA18949.hp2 NA18966.hp1 NA19030.hp2 NA19043.hp2 NA19090.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007 a0007c0012 a0008c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(42): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0027 a0001c0001t0069 a0001c0001t0071 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0097 a0001c0001t0103 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0117 a0001c0001t0118 a0001c0001t0120 a0001c0001t0121 a0001c0001t0123 a0001c0001t0125 a0001c0001t0141 a0001c0003t0046 a0001c0003t0088 a0001c0003t0092 a0002c0002t0017 a0002c0002t0038 a0002c0002t0042 a0002c0002t0048 a0002c0002t0064 a0002c0002t0065 a0002c0002t0075 a0002c0002t0084 a0002c0007t0059 a0007c0012t0073 a0008c0011t0044	a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0003g0029 others(46): Show a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0003g0029 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0008g0010 a0001c0001t0009g0007 a0001c0001t0012g0018 a0001c0001t0012g0022 a0001c0001t0013g0015 a0001c0001t0014g0027 a0001c0001t0014g0036 a0001c0001t0015g0038 a0001c0001t0019g0120 a0001c0001t0027g0119 a0001c0001t0069g0092 a0001c0001t0071g0074 a0001c0001t0090g0032 a0001c0001t0091g0028 a0001c0001t0093g0008 a0001c0001t0094g0016 a0001c0001t0095g0019 a0001c0001t0097g0031 a0001c0001t0103g0132 a0001c0001t0107g0006 a0001c0001t0109g0014 a0001c0001t0110g0013 a0001c0001t0111g0017 a0001c0001t0117g0001 a0001c0001t0118g0026 a0001c0001t0120g0024 a0001c0001t0121g0011 a0001c0001t0123g0047 a0001c0001t0125g0033 a0001c0001t0141g0002 a0001c0003t0046g0088 a0001c0003t0088g0021 a0001c0003t0092g0004 a0002c0002t0017g0097 a0002c0002t0038g0082 a0002c0002t0042g0079 a0002c0002t0048g0070 a0002c0002t0064g0069 a0002c0002t0065g0072 a0002c0002t0075g0073 a0002c0002t0084g0025 a0002c0007t0059g0071 a0007c0012t0073g0067 a0008c0011t0044g0068	49	162	0.3025	-136	c.108 others(19): Show c.1086+1392_1086+1527del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1085014	GTTGTTGT others(129): Show GTTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTAC AGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0020 a0001c0001t0011g0020	1	162	0.0062	-136	c.108 others(19): Show c.1086+1515_1086+1650del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1085338	CATTATTA others(129): Show CATTATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCA ATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTG CTGAGATTACAGGCAATATGCCTATGCCTGGCCCATT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02717.hp1 HG02895.hp1 HG01106.hp2 HG02717.hp1 HG02895.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0002c0002 a0001c0013 a0002c0002	a0001c0013t0063 a0002c0002t0066 a0002c0002t0105 a0001c0013t0063 a0002c0002t0066 a0002c0002t0105	a0001c0013t0063g0077 a0002c0002t0066g0139 a0002c0002t0105g0148 a0001c0013t0063g0077 a0002c0002t0066g0139 a0002c0002t0105g0148	3	162	0.0185	-136	c.108 others(19): Show c.1086+1827_1086+1962del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122493	ATCTCTAT others(129): Show ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTAT CTGTGTCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCT CTATCTGTGTCTCTATCTCTATCTCTATCTGTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0109 a0001c0001t0030g0109	1	162	0.0062	-136	c.156 others(19): Show c.1569+6462_1569+6597del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	675131	CGAGGACA others(129): Show CGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGCCCCCTCGTGAGGACAGAGACGCGGCG GCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03471.hp1 homoSapiens_chm13v2.hp1 HG02615.hp1 HG03471.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0001 a0005c0007t0001 a0001c0002t0001 a0005c0007t0001	a0001c0002t0001g0088 a0005c0007t0001g0238 a0005c0007t0001g0240 a0001c0002t0001g0088 a0005c0007t0001g0238 a0005c0007t0001g0240	3	378	0.0079	-136	c.305 others(17): Show c.305-1220_305-1085del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675168	GACGCGGC others(129): Show GACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGTGAGGA CAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGA	G G	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	378	0.0027	-136	c.305 others(17): Show c.305-1257_305-1122del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675184	GTGAGGAC others(129): Show GTGAGGACAGAGACGCGGCGCCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGG CGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01943.hp2 HG01993.hp1 others(5): Show HG01934.hp1 HG01943.hp2 HG01993.hp1 HG02148.hp2 NA18982.hp1 NA18990.hp1 NA19005.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0103 a0001c0001t0001g0115	8	378	0.0212	-136	c.305 others(17): Show c.305-1273_305-1138del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675828	ACGCGGCG others(129): Show ACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGAC AGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	378	0.0027	-136	c.305 others(17): Show c.305-1917_305-1782del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERO1B_chr1_236210101_236286958	236245390	ATATATAC others(129): Show ATATATACGTATATATATACACACGTATATATATACGTATATATATACAC ACGTATATATATACGTATATATATACACACGTATATATATACGTATATAT ATACACGTATATATATATGTGTGTATGTATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00621.hp1 others(25): Show HG00140.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG01081.hp1 HG01109.hp1 HG01255.hp1 HG01346.hp1 HG01884.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02132.hp2 HG02615.hp2 HG02818.hp2 HG03453.hp1 HG03831.hp1 HG04184.hp1 HG04228.hp1 NA18951.hp1 NA18967.hp1 NA18970.hp2 NA18980.hp1 NA19000.hp2 NA19009.hp2 NA19057.hp1 NA19075.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0004 a0006c0010 a0001c0001 a0003c0004 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0034 a0001c0001t0036 a0001c0001t0048 a0001c0001t0058 a0001c0001t0059 a0003c0004t0013 a0003c0004t0029 a0006c0010t0001	a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0047 others(24): Show a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0262 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0049 a0001c0001t0002g0099 a0001c0001t0002g0181 a0001c0001t0002g0312 a0001c0001t0019g0369 a0001c0001t0034g0023 a0001c0001t0036g0057 a0001c0001t0048g0120 a0001c0001t0058g0097 a0001c0001t0059g0098 a0003c0004t0013g0127 a0003c0004t0029g0002 a0006c0010t0001g0226	28	396	0.0707	-136	c.432 others(17): Show c.432-2031_432-1896del	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ESYT2_chr7_158725997_158834509	158745155	AGGCAAGC others(129): Show AGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCT ATCTAATGAGACAGGGTCAGGCAAGCGGCATGACCAGGTCTCCTAGGCCC GGCTGTTCACACTCACCTATCTAATGAGACAGGGTCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02723.hp2 HG02055.hp1 HG02572.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0024t0001g0326 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0024t0001g0326	3	370	0.0081	-136	c.164 others(19): Show c.1645-1613_1645-1478del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745186	CGGCTGTT others(129): Show CGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCAGGCAAGCGGCAT GACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACA GGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	370	0.0027	-136	c.164 others(19): Show c.1645-1644_1645-1509del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ETF1_chr5_138501095_138548236	138546873	CCACGTGA others(129): Show CCACGTGACCCACCTGCCTCAGCCTCCCTAGTAGCTGGGACCACAGGCGC AGGCCATGATGCCTGGCTAATTTTTGTATGTTTAGTAGAGATAGGGGTTT CACCATGTTGCCCAGGCTGATCTCGAACTCCTGACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	334	0.0030	-136	c.-39 others(11): Show c.-3931_-3796del	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding		3638		chr5	TogoVar
F10_chr13_113117799_113154529	113154055	GGGGGGCG others(129): Show GGGGGGCGGGGCGTGGGGGAGGCGGGGCGTGGGGGCGGGGCGTGGGGGGC GGGGCGTGGGGGAGGGCAGGGGCACGTGACGCAGGGCGTGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	412	0.0024	-136	c.45 others(11): Show c.4539_*4674del	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4527		chr13	TogoVar
F7_chr13_113100791_113125685	113107312	TGGGTGTC others(129): Show TGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGT GTGGGTGTCCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGG AGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGAGGCGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(84): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02738.hp2 HG02976.hp2 HG03017.hp2 HG03831.hp2 HG04184.hp1 HG06807.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp2 NA18965.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0009t0001 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0002g0223 a0001c0001t0019g0214 a0001c0009t0001g0001 a0002c0002t0003g0195 a0002c0002t0003g0198	87	400	0.2175	-136	c.64+ others(15): Show c.64+1470_64+1605del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113107735	TGTGGGTG others(129): Show TGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGA GTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGCGTGTCCCGGG GGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02132.hp1 NA18942.hp1 others(2): Show HG02129.hp2 HG02132.hp1 NA18942.hp1 NA18965.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0194 a0001c0001t0001g0209 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0194 a0001c0001t0001g0209 a0001c0001t0001g0210	5	400	0.0125	-136	c.64+ others(15): Show c.64+1839_64+1974del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108929	TGGGTGTC others(129): Show TGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGCGTGGGTGTCCCAGGGGT GTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGG AGTGGATGTCCCGGGAGTGTGGGTGTTCCGGAGGCGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(82): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01891.hp1 HG01928.hp1 HG01981.hp2 HG02004.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02738.hp2 HG02818.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03831.hp2 HG04184.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19091.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0009t0001 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0002g0223 a0001c0001t0004g0234 a0001c0001t0017g0233 a0001c0001t0019g0214 a0001c0001t0023g0200 a0001c0009t0001g0001 a0002c0002t0003g0195 a0002c0002t0003g0198	85	400	0.2125	-136	c.65- others(15): Show c.65-1748_65-1613del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FGF1_chr5_142587178_142691090	142596305	ACAATTTT others(129): Show ACAATTTTTTTTTTAATTAGCTAGGTGCCATGGTGTGTGCCTGTAATCAC AACACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAATTTGA GGCCAGTCTGGGCAACATAGCAAGACCCATTCTCTAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0129 a0001c0001t0009g0129	1	340	0.0029	-136	c.274 others(15): Show c.274-957_274-822del	FGF1	ENSG00000113578.18	transcript	ENST00000337706.7	protein_coding	3/3			chr5	TogoVar
FGF1_chr5_142587178_142691090	142596308	ATTTTTTT others(129): Show ATTTTTTTTTTAATTAGCTAGGTGCCATGGTGTGTGCCTGTAATCACAAC ACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAATTTGAGGC CAGTCTGGGCAACATAGCAAGACCCATTCTCTACAAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03486.hp2 HG02818.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0029 a0001c0001t0009 a0001c0001t0029	a0001c0001t0009g0262 a0001c0001t0029g0032 a0001c0001t0009g0262 a0001c0001t0029g0032	2	340	0.0059	-136	c.274 others(15): Show c.274-960_274-825del	FGF1	ENSG00000113578.18	transcript	ENST00000337706.7	protein_coding	3/3			chr5	TogoVar
FLT4_chr5_180596506_180654600	180639234	GGTGGACG others(129): Show GGTGGACGGATGGATGGATGGATGAATGGATGGATGGATGCATGGGTGGG TGGAGGAGTGGATGGGTGGGTGAGTAGAAGGATGGATGGGTGGATGGATG GACAGACAGATGAATGGATGGATGGACAGGTAGATGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(205): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18992.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19057.hp1 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 others(13): Show a0001 a0002 a0004 a0005 a0007 a0011 a0012 a0014 a0016 a0017 a0021 a0023 a0025 a0028 a0030 a0031	a0001c0001 a0001c0009 a0001c0031 others(24): Show a0001c0001 a0001c0009 a0001c0031 a0001c0043 a0002c0002 a0002c0003 a0002c0004 a0002c0008 a0002c0011 a0002c0029 a0002c0035 a0002c0041 a0004c0007 a0005c0015 a0005c0018 a0007c0010 a0011c0016 a0012c0017 a0014c0020 a0016c0051 a0017c0049 a0021c0034 a0023c0036 a0025c0037 a0028c0048 a0030c0050 a0031c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0009t0001 a0001c0009t0002 a0001c0009t0014 a0001c0031t0016 a0001c0043t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0018 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0007 a0002c0003t0019 a0002c0004t0003 a0002c0004t0005 a0002c0004t0033 a0002c0008t0004 a0002c0011t0004 a0002c0029t0001 a0002c0035t0001 a0002c0041t0005 a0004c0007t0001 a0005c0015t0011 a0005c0018t0011 a0007c0010t0001 a0007c0010t0010 a0007c0010t0015 a0011c0016t0011 a0012c0017t0001 a0014c0020t0007 a0014c0020t0013 a0016c0051t0002 a0017c0049t0005 a0021c0034t0009 a0023c0036t0001 a0025c0037t0001 a0028c0048t0001 a0030c0050t0001 a0031c0053t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0022 others(200): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0293 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0330 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0002g0055 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0107 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0162 a0001c0001t0002g0177 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0206 a0001c0001t0002g0229 a0001c0001t0002g0253 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0290 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0316 a0001c0001t0002g0350 a0001c0001t0003g0227 a0001c0001t0004g0078 a0001c0001t0004g0087 a0001c0001t0004g0119 a0001c0001t0004g0131 a0001c0001t0004g0142 a0001c0001t0005g0079 a0001c0001t0005g0117 a0001c0001t0006g0122 a0001c0001t0006g0126 a0001c0001t0006g0127 a0001c0001t0006g0188 a0001c0001t0006g0209 a0001c0001t0006g0292 a0001c0001t0006g0363 a0001c0001t0008g0144 a0001c0001t0012g0005 a0001c0001t0012g0223 a0001c0001t0016g0023 a0001c0001t0016g0262 a0001c0001t0024g0105 a0001c0001t0025g0265 a0001c0001t0027g0231 a0001c0001t0029g0260 a0001c0009t0001g0019 a0001c0009t0002g0114 a0001c0009t0014g0083 a0001c0031t0016g0021 a0001c0043t0002g0230 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0072 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0089 a0002c0002t0001g0097 a0002c0002t0001g0115 a0002c0002t0001g0120 a0002c0002t0001g0125 a0002c0002t0001g0201 a0002c0002t0001g0251 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0003g0076 a0002c0002t0003g0207 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0004g0014 a0002c0002t0004g0093 a0002c0002t0004g0094 a0002c0002t0004g0096 a0002c0002t0004g0098 a0002c0002t0004g0099 a0002c0002t0004g0101 a0002c0002t0004g0187 a0002c0002t0004g0266 a0002c0002t0018g0109 a0002c0002t0018g0163 a0002c0003t0001g0164 a0002c0003t0001g0321 a0002c0003t0002g0291 a0002c0003t0003g0073 a0002c0003t0003g0074 a0002c0003t0003g0077 a0002c0003t0003g0088 a0002c0003t0003g0095 a0002c0003t0003g0102 a0002c0003t0003g0104 a0002c0003t0003g0108 a0002c0003t0003g0132 a0002c0003t0003g0134 a0002c0003t0003g0141 a0002c0003t0003g0143 a0002c0003t0003g0190 a0002c0003t0003g0192 a0002c0003t0003g0257 a0002c0003t0003g0274 a0002c0003t0003g0289 a0002c0003t0003g0298 a0002c0003t0003g0362 a0002c0003t0005g0103 a0002c0003t0005g0318 a0002c0003t0007g0006 a0002c0003t0019g0186 a0002c0003t0019g0250 a0002c0004t0003g0161 a0002c0004t0005g0026 a0002c0004t0033g0090 a0002c0008t0004g0065 a0002c0011t0004g0007 a0002c0011t0004g0214 a0002c0029t0001g0228 a0002c0035t0001g0221 a0002c0041t0005g0140 a0004c0007t0001g0010 a0004c0007t0001g0015 a0004c0007t0001g0017 a0004c0007t0001g0185 a0004c0007t0001g0210 a0004c0007t0001g0212 a0005c0015t0011g0288 a0005c0018t0011g0041 a0007c0010t0001g0245 a0007c0010t0010g0323 a0007c0010t0015g0252 a0011c0016t0011g0181 a0012c0017t0001g0328 a0012c0017t0001g0329 a0014c0020t0007g0170 a0014c0020t0013g0271 a0016c0051t0002g0276 a0017c0049t0005g0213 a0021c0034t0009g0287 a0023c0036t0001g0110 a0025c0037t0001g0249 a0028c0048t0001g0219 a0030c0050t0001g0112 a0031c0053t0001g0380	208	388	0.5361	-136	c.59- others(15): Show c.59-7592_59-7457del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FREM1_chr9_14732152_14915428	14861150	TATATACG others(129): Show TATATACGTATATACACATGTATGTACATATATACACATATATACATATA TACACACATATACATATATACACATATATACACATATATACACACATATA TACATATATACACATATACACATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00609.hp2 others(32): Show HG00099.hp1 HG00408.hp2 HG00609.hp2 HG01891.hp1 HG01934.hp2 HG02027.hp1 HG02074.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03688.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18947.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp1 NA18972.hp1 NA18974.hp2 NA18979.hp2 NA19009.hp2 NA19060.hp2	a0001 a0002 a0005 others(20): Show a0001 a0002 a0005 a0006 a0008 a0011 a0015 a0019 a0020 a0021 a0031 a0034 a0035 a0042 a0043 a0072 a0077 a0093 a0100 a0105 a0106 a0113 a0116	a0001c0011 a0001c0123 a0002c0005 others(25): Show a0001c0011 a0001c0123 a0002c0005 a0002c0130 a0005c0121 a0006c0014 a0008c0042 a0011c0012 a0011c0124 a0015c0010 a0019c0044 a0019c0110 a0020c0039 a0021c0043 a0031c0146 a0034c0036 a0035c0126 a0035c0131 a0042c0129 a0043c0148 a0072c0112 a0077c0127 a0093c0119 a0100c0117 a0105c0139 a0106c0143 a0113c0140 a0116c0060	a0001c0011t0001 a0001c0123t0001 a0002c0005t0001 others(25): Show a0001c0011t0001 a0001c0123t0001 a0002c0005t0001 a0002c0130t0001 a0005c0121t0001 a0006c0014t0001 a0008c0042t0001 a0011c0012t0001 a0011c0124t0001 a0015c0010t0001 a0019c0044t0001 a0019c0110t0001 a0020c0039t0001 a0021c0043t0001 a0031c0146t0001 a0034c0036t0002 a0035c0126t0001 a0035c0131t0001 a0042c0129t0001 a0043c0148t0005 a0072c0112t0001 a0077c0127t0001 a0093c0119t0001 a0100c0117t0001 a0105c0139t0005 a0106c0143t0001 a0113c0140t0001 a0116c0060t0003	a0001c0011t0001g0024 a0001c0011t0001g0025 a0001c0011t0001g0031 others(32): Show a0001c0011t0001g0024 a0001c0011t0001g0025 a0001c0011t0001g0031 a0001c0123t0001g0166 a0002c0005t0001g0188 a0002c0130t0001g0107 a0005c0121t0001g0103 a0006c0014t0001g0087 a0006c0014t0001g0108 a0006c0014t0001g0109 a0008c0042t0001g0199 a0011c0012t0001g0145 a0011c0012t0001g0281 a0011c0124t0001g0284 a0015c0010t0001g0028 a0015c0010t0001g0092 a0019c0044t0001g0041 a0019c0044t0001g0269 a0019c0110t0001g0114 a0020c0039t0001g0261 a0021c0043t0001g0302 a0031c0146t0001g0215 a0034c0036t0002g0111 a0035c0126t0001g0077 a0035c0131t0001g0247 a0042c0129t0001g0168 a0043c0148t0005g0070 a0072c0112t0001g0186 a0077c0127t0001g0294 a0093c0119t0001g0260 a0100c0117t0001g0146 a0105c0139t0005g0216 a0106c0143t0001g0139 a0113c0140t0001g0211 a0116c0060t0003g0207	35	346	0.1012	-136	c.330 others(17): Show c.330-1802_330-1667del	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	3/36			chr9	TogoVar
FSCN1_chr7_5587816_5611655	5604866	GCCTCAAG others(129): Show GCCTCAAGTGATCCGCCCACCTCAGCCTCCCACAGTGCTGGGTTTATAGG TGTGAGCCACCACACCCGGCTAATTGTTTTGTATTTTTAGTAGAGACGGA GCTTCACTATGTTGGCAAGGCTGGCTCGAACTCCTGA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	378	0.0027	-136	c.128 others(17): Show c.1280-374_1280-239del	FSCN1	ENSG00000075618.18	transcript	ENST00000382361.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
GATA5_chr20_62458497_62480995	62476900	TCTTTCTT others(129): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT CTTTCTTTCTTTCTTTTTTCTTTCTCGGAGCACACCGGGTGGACCCAGGC TTGGCGGCCATGAAAGTTCTTTTTTCTTTCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0007 a0001c0019t0007	a0001c0019t0007g0285 a0001c0019t0007g0285	1	382	0.0026	-136	c.-11 others(10): Show c.-1128_-993del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		906		chr20	TogoVar
GJA9_chr1_38869069_38886587	38884085	GAGACCAG others(129): Show GAGACCAGCCTGGCCAACATGGTGAAACACCGTCTCTACTAAAAAATACA AAAATTAGCCGAGTGCAGTGGTTCACACCTGTAATCCCAGCACTTTGGGA GGCCGAGGTGGGCGGATCACCTAAGGTCAGGAGTTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG02572.hp2 HG02647.hp2 others(5): Show HG01069.hp2 HG02572.hp2 HG02647.hp2 HG02976.hp1 HG03098.hp1 HG03471.hp2 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0014g0063 a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0014g0063	8	444	0.0180	-136	c.-28 others(11): Show c.-2885_-2750del	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding		2499		chr1	TogoVar

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Search Results (Total: 10000 hits)