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
DBNDD1_chr16_89999871_90024456	90003501	ATGACTCC others(433): Show ATGACTCCCTCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGGA CTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGG TGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCACG TGGGGCGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCCACCTTTACGT GCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTT TACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCC ACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCC GGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGATTCCCTCCCCC GGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0213 a0001c0001t0005g0213	1	412	0.0024	-440	c.23 others(11): Show c.2394_*2833del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1369		chr16	TogoVar
DIRAS1_chr19_2709567_2726372	2713644	TCCCATTC others(433): Show TCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC ACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACC TCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTT CATCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTCCACCCACCACCTCCTCCACCCTTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	412	0.0024	-440	c.31 others(11): Show c.3126_*3565del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		922		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713864	TCCCATCC others(433): Show TCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCAT TCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCA CTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACCC ACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCATCACC TCCTCCACCCTTCACACCATCCCTCACTTCCTACACCCACCACTTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTT CACCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTACACCCACCACCTTCTCAACCCTTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18998.hp2 NA18960.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0099 a0001c0002t0005g0009 a0001c0001t0001g0099 a0001c0002t0005g0009	2	412	0.0049	-440	c.29 others(11): Show c.2906_*3345del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		702		chr19	TogoVar
GIP_chr17_48953554_48973596	48959812	ACACAGGA others(433): Show ACACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATG GGCTCAGCTCTGTGTGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTC GGTGGGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGG GACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCAGG CCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGCCACAGGATG GGCTCAGCTCTGTGTGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTC GGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGG GACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGG ACATAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	406	0.0025	-440	c.452 others(16): Show c.452+634_452+1073del	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	5/5			chr17	TogoVar
GIP_chr17_48953554_48973596	48959932	CCACAGGA others(433): Show CCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATG GGCTCAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTC GGTGGGTAGGGACAGGCGGGCCACAGGATGGGCTCAGCTCTGTGTGTAGG GACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGG ACACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATG GGCTCAGCTCGGTGGGTAGGGACAGGCGGGACATAGGATGGGCTCAGCTC TGTGTGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGG GACAGGCGGGACACAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCGGG ACACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02809.hp2 others(4): Show HG01891.hp1 HG02055.hp1 HG02809.hp2 HG02922.hp2 HG03139.hp1 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0063 a0001c0001t0001g0086 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0063 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0166 a0001c0001t0001g0191	7	406	0.0172	-440	c.452 others(15): Show c.452+514_452+953del	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	5/5			chr17	TogoVar
GPR157_chr1_9095305_9134102	9123248	AAATATAT others(433): Show AAATATATATTTAAATATATATATTTAAATATATATTTAAATTAATATAT ATTTAATTTAAATATATATTAAAATATATATATTTAATTTAAATATATAT ATTTAATTTAAATATATATTTAAATTAAATATATATATTTAATTTAAATA TATATTTAATTTAAATACATATTAAAATATATATATTTAATTTAAATACA TATTAAAATATATATTTAATTTAAATATATATTTTAAAAATATATAAATT ATATATTCAAAATATATATTTAATTTAAATATATATTTAAATATATCTAA TTTAAATATATATTTAAATATATTTTAAATATATATTTAATATTAATGTA TATTTAATATATATTTAAAATTAAATATATTTTAAATATACATTAATATT AAATATATATTAAATATATATTTAATATTAAATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19084.hp1 NA18948.hp2 NA19084.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0046 a0003c0003t0004 a0003c0003t0046	a0003c0003t0004g0375 a0003c0003t0046g0376 a0003c0003t0004g0375 a0003c0003t0046g0376	2	404	0.0050	-440	c.383 others(17): Show c.383+4957_383+5396del	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
KCNG2_chr18_79792938_79905100	79886288	GGGGACAC others(433): Show GGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACG GGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGT GGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATA GGGACGTGGGGACAGGGACACGGGACAGGGAGATGGGGATGGGAACATAG GGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGG AACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGG GGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGG GAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACA AGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(82): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01928.hp2 HG01943.hp2 HG02040.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02735.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18947.hp1 NA18949.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18983.hp2 NA18990.hp2 NA18994.hp1 NA18997.hp1 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19065.hp1 NA19067.hp2 NA19080.hp2 NA19089.hp1 NA20805.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0011 a0003c0006 others(3): Show a0001c0001 a0001c0011 a0003c0006 a0004c0008 a0005c0010 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0011t0001 a0003c0006t0001 a0004c0008t0001 a0005c0010t0001 a0006c0012t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(81): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0143 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0002g0181 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0256 a0001c0001t0003g0273 a0001c0001t0008g0125 a0001c0011t0001g0078 a0003c0006t0001g0004 a0003c0006t0001g0041 a0003c0006t0001g0071 a0003c0006t0001g0201 a0004c0008t0001g0042 a0005c0010t0001g0262 a0006c0012t0002g0005	85	312	0.2724	-440	c.625 others(19): Show c.625-12589_625-12150del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAD1L1_chr7_1810795_2237945	2035312	AGGAGCAC others(433): Show AGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATG AGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAG GCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCT CCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCC AGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGG GGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGA GCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTGGGG ACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAG TCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp2 others(32): Show HG00140.hp1 HG00280.hp1 HG00544.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01361.hp2 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG02040.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG02735.hp2 HG02738.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18948.hp1 NA18954.hp2 NA18967.hp2 NA18973.hp1 NA18975.hp1 NA18981.hp1 NA18999.hp2 NA19064.hp1 NA19081.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 others(32): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0002g0055 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0201 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0003t0002g0083 a0002c0005t0001g0213 a0002c0005t0001g0240 a0002c0005t0002g0121	35	264	0.1326	-440	c.121 others(21): Show c.1219-21110_1219-20671del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2035713	CGGGACAG others(433): Show CGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGC ACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCG GGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGA GCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGG CATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTC CCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCA GGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTTGGGACAGAGCTGGG GTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTG	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	264	0.0038	-440	c.121 others(21): Show c.1219-21511_1219-21072del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
NFATC1_chr18_79390930_79534323	79408752	ACTCCTCC others(433): Show ACTCCTCCATTCCCTATGCATCCATGCATCATCATCTGTCCATTATTCCT CCATTCCCTATCCATTCATTCATCATCCATCCATCCATCATCCATCCATC CATCATCAAACCATTATTCCTCCATTCCCTATCCATCCATCCATCATCCA TCCATCATCATCCATCCATTATTCCTCCATTCCCTATCCATTCATTCATC ATCCATCCATCCATCATCATCCATCCATCATCAAACCATTATTCCTCCAT TCCCTATCCATCCGTCCATCCATCATCCATCCATCATCATCCATCCATTA TTCCTCCATTCCCTATCCATTCATTCATCATCCATCCATCCATCATCATC CATCCATCCATCAAACCATTATTCCTCCATTCCCTATCCATCCATCCGTC ATCCATCTATCCATCATCATCCATCCATCATCAAACCATTG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0100	1	322	0.0031	-440	c.128 others(17): Show c.128-1650_128-1211del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9			chr18	TogoVar
NOC4L_chr12_132139457_132157468	132148890	ACCTCGGT others(433): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	294	0.0034	-440	c.901 others(14): Show c.901+62_901+501del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NR4A1_chr12_52046442_52064503	52047883	GGTGGCTC others(433): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGA TCACGAGGTCAGGAGATCGAGACTATCCTGGTTAACACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGT CGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGA GGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTTCACTCTAGCCTGGGC GACAGCACCATCTCAAAAACAAAACAAAACAAAAACAAAAAACAAAAAAA GAGCTAGCAAGGCTGAGATTGAGCACAGACTGGTCAAGCCACAGATAACG CACTTGTTCTTGCTGGTTGGCAGGAAGAACAATGGCTTGGCTGATCATCT TTTGCTACCTATTAAAATTGGTTTTATTTTGGCCGGGTACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0073 a0002c0003t0003g0073	1	422	0.0024	-440	c.-36 others(11): Show c.-3687_-3248del	NR4A1	ENSG00000123358.20	transcript	ENST00000394825.6	protein_coding		3558		chr12	TogoVar
OTUD7A_chr15_31470398_31875673	31511104	CTATATGT others(433): Show CTATATGTAACATACATATGTATATCTATATGTAACATACATATGTATAT CTATATGTAACATACATATGTATATCTATATGTAACACACATATGTATAT CTATATGTAACACACATACATATGTATATCTATATGTAACACACATACAT ATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACAC ACATATATATGTATATCTATATGTAACACACATATATATGTATATCTATA TGTAACACACATATATATGTATATCTATATGTAACACATATATATGTATA TCTATATGTAACACACACATATATGTATATCTATATGTAACACACACATA TATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAACA CACACATATATGTATATCTATATGTAACACACACATATATG	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	244	0.0041	-440	c.894 others(17): Show c.894-7726_894-7287del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PANX1_chr11_94123841_94186968	94177637	GGTGCTCC others(433): Show GGTGCTCCTCACCCTCTCTGACGTGTGAATCCCCTCTTGTTTGGTGTGTG TCTGCACCCTGATGTGGATGCTCTCCTCTTGATTCCCTTGCCCGTTGTGG ATGGCCTCTCTGAGCCCAAGTTTATCCAACTATACGATGAGGGTGTTGGA CTGCCTTCAAAGTCTGTTCCACATTCATTCTGCATTCTGTGAATTCAACT GCTTATTTCAGCTGTCTTATTGGGATGATTACTGAATCACTGAAGTCGAA GCTTTTCTAATTTGTTTTGGGGGAAGTTACATGTTTCTTTGGCATTTTCC CAGATTCCAGAGTAGGGCAAAAATGGAGCCGTATGCCTTAGTTGCTTCTT AAAACCATAAAAGTTAACAAAAACCCAGCAGAAGCCTTCGTGATAGCTGC AGGTTTCTTAACTGGGATTTTGTTCAGGGAACGGGAGTAAT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01099.hp1 HG02602.hp1 HG00733.hp1 HG01099.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0127 a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0127	3	408	0.0074	-440	c.322 others(15): Show c.322-731_322-292del	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	2/4			chr11	TogoVar
PARVB_chr22_44019302_44177939	44112699	CTAACTAA others(433): Show CTAACTAAGGCCCTACACCAGCAAAGATACATTGTTACTAAGTAAGGCCC TGCACCAACACAGATACATTGTTACTAAGTAAGGCCCTGCACCAACACAG ATACATTGTTACTAACTAAGGCCCTGCACCAACACAGATACGTTGTTACT AAGTAAGGCCCTGCACCAACACAGATACGTTGTTACTAAATAAGGCCCTG TACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACAGAT ACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTAA CTAAGGCCCTGCACCAGCACAGATACATTGTTACTAAGGCCCTACACCAG CACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACGTTGTTAC TAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTAAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(112): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01109.hp2 HG01167.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA19074.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0011	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0002c0003 a0003c0006 a0003c0033 a0003c0034 a0005c0014 a0009c0026 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0033 a0001c0001t0038 a0001c0001t0050 a0001c0001t0057 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0081 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0015 a0001c0002t0017 a0001c0002t0021 a0001c0002t0025 a0001c0002t0039 a0001c0002t0040 a0001c0002t0044 a0001c0002t0062 a0001c0002t0066 a0001c0004t0001 a0001c0004t0005 a0001c0015t0029 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0014 a0002c0003t0017 a0002c0003t0032 a0002c0003t0079 a0003c0006t0003 a0003c0006t0046 a0003c0033t0002 a0003c0034t0036 a0005c0014t0083 a0009c0026t0001 a0011c0010t0031	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0069 others(112): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0069 a0001c0001t0001g0096 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0273 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0015 a0001c0001t0002g0068 a0001c0001t0002g0216 a0001c0001t0002g0228 a0001c0001t0002g0256 a0001c0001t0002g0272 a0001c0001t0002g0290 a0001c0001t0002g0310 a0001c0001t0003g0144 a0001c0001t0003g0328 a0001c0001t0004g0229 a0001c0001t0004g0236 a0001c0001t0004g0241 a0001c0001t0004g0269 a0001c0001t0004g0293 a0001c0001t0004g0300 a0001c0001t0005g0058 a0001c0001t0005g0227 a0001c0001t0005g0257 a0001c0001t0005g0268 a0001c0001t0005g0306 a0001c0001t0006g0187 a0001c0001t0007g0221 a0001c0001t0007g0238 a0001c0001t0007g0303 a0001c0001t0008g0013 a0001c0001t0008g0231 a0001c0001t0008g0259 a0001c0001t0009g0091 a0001c0001t0009g0154 a0001c0001t0010g0137 a0001c0001t0010g0322 a0001c0001t0011g0288 a0001c0001t0011g0296 a0001c0001t0012g0037 a0001c0001t0013g0124 a0001c0001t0013g0184 a0001c0001t0014g0109 a0001c0001t0014g0131 a0001c0001t0016g0185 a0001c0001t0016g0188 a0001c0001t0017g0081 a0001c0001t0021g0090 a0001c0001t0023g0205 a0001c0001t0024g0076 a0001c0001t0024g0181 a0001c0001t0026g0313 a0001c0001t0033g0209 a0001c0001t0038g0292 a0001c0001t0050g0218 a0001c0001t0057g0117 a0001c0001t0074g0132 a0001c0001t0076g0261 a0001c0001t0077g0307 a0001c0001t0081g0103 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0055 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0224 a0001c0002t0001g0251 a0001c0002t0005g0194 a0001c0002t0006g0101 a0001c0002t0006g0134 a0001c0002t0006g0168 a0001c0002t0007g0002 a0001c0002t0009g0138 a0001c0002t0009g0191 a0001c0002t0015g0327 a0001c0002t0017g0278 a0001c0002t0021g0092 a0001c0002t0025g0100 a0001c0002t0025g0128 a0001c0002t0039g0089 a0001c0002t0040g0189 a0001c0002t0044g0018 a0001c0002t0062g0077 a0001c0002t0066g0105 a0001c0004t0001g0097 a0001c0004t0001g0180 a0001c0004t0001g0289 a0001c0004t0005g0098 a0001c0015t0029g0139 a0002c0003t0001g0047 a0002c0003t0001g0063 a0002c0003t0001g0240 a0002c0003t0003g0038 a0002c0003t0006g0112 a0002c0003t0012g0040 a0002c0003t0012g0041 a0002c0003t0014g0046 a0002c0003t0017g0242 a0002c0003t0032g0152 a0002c0003t0079g0044 a0003c0006t0003g0104 a0003c0006t0046g0318 a0003c0033t0002g0195 a0003c0034t0036g0325 a0005c0014t0083g0197 a0009c0026t0001g0277 a0011c0010t0031g0179	115	332	0.3464	-440	c.274 others(17): Show c.274-6335_274-5896del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PHTF2_chr7_77793773_77962225	77927118	GCTGCACT others(433): Show GCTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAA AAAAAAAAAAATATATATATATATATATACATACACACACACACACACAC ACACACAAACACACACATACACATAAAGAGAGAGATTGATTGTGGAAAGC AGTACAAAATTTATTATCAAATGAATATAAATAATAACTCACTTCAGGCC GGGCTTGGTGGCTCACGCCTGTAATCCCTGTACTTTCAGAGGCCAAGGTG GGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTG AAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGTCGCAGTGGCATG TGTCTGTAACCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAA CCTGGGAGGTGGAAGTTGTGGTGAGTGAAGATCACGTGCCA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	314	0.0032	-440	c.101 others(19): Show c.1018-1973_1018-1534del	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC12A7_chr5_1045384_1117063	1072501	CAGCCCCC others(433): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTATGC AGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAG TGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCC CCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0028 a0001c0006t0001g0028	1	118	0.0085	-440	c.224 others(18): Show c.2241+692_2241+1131del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC9A9_chr3_143260222_143853468	143449120	TAATATGA others(433): Show TAATATGATATATATTATATAATTATAATATATAATATGATATATAATAT ATAATATAATTATATAAATATAATTATATAAAAATAATTATAATTATATA ATTATATAAAATATAATTATAATTATATTATAATATAAAATATAATTATA TATTATATATTATATAAAATATAATTATAATTATATAATATATAATATAA TTATATAAATATAATTATATAAAAATAATTATAATTATATAATTATATAA AATATAATTATAATTATATAATTATATAAAATATAATTATATAAAATAAT TATATAAAATATAATAATTATATAATTATATAAAATATAATTATATAAAA TAATTATATAAAATATAATAATTATATAATTATATAAAATATAATAATTA TATAATTATATAAAATATAATTATATAAAATAATTATATAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	108	0.0093	-440	c.146 others(21): Show c.1469+17477_1469+17916del	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
STAT3_chr17_42308324_42393442	42337881	TGACCTGA others(433): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp2 HG02809.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0146 a0001c0001t0018g0148 a0001c0001t0018g0146 a0001c0001t0018g0148	2	302	0.0066	-440	c.550 others(14): Show c.550+410_551-25del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42337921	TGACCTGA others(433): Show TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp1 NA20129.hp1 HG03041.hp1 HG03453.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280	3	302	0.0099	-440	c.550 others(14): Show c.550+370_551-65del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338081	GGACCTGA others(433): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	302	0.0033	-440	c.550 others(15): Show c.550+210_551-225del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
ZNF835_chr19_56656980_56676757	56669497	AGGGGCCT others(433): Show AGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTAC CAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCT CCATTAGCATAAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCAT AAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTT GGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTAC CAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCT CCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCAT AAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCATAAATGTACTT GGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp1 HG02004.hp1 others(16): Show HG01123.hp1 HG01243.hp1 HG02004.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02818.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03471.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20300.hp2	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0008	a0001c0001 a0001c0006 a0001c0007 others(3): Show a0001c0001 a0001c0006 a0001c0007 a0005c0013 a0007c0012 a0008c0020	a0001c0001t0035 a0001c0006t0007 a0001c0006t0022 others(5): Show a0001c0001t0035 a0001c0006t0007 a0001c0006t0022 a0001c0007t0007 a0001c0007t0034 a0005c0013t0036 a0007c0012t0007 a0008c0020t0037	a0001c0001t0035g0089 a0001c0006t0007g0020 a0001c0006t0007g0087 others(7): Show a0001c0001t0035g0089 a0001c0006t0007g0020 a0001c0006t0007g0087 a0001c0006t0022g0036 a0001c0007t0007g0013 a0001c0007t0007g0092 a0001c0007t0034g0090 a0005c0013t0036g0091 a0007c0012t0007g0035 a0008c0020t0037g0093	19	450	0.0422	-440	c.-48 others(17): Show c.-48+1639_-48+2078del	ZNF835	ENSG00000127903.14	transcript	ENST00000537055.4	protein_coding	1/1			chr19	TogoVar
ZNF835_chr19_56656980_56676757	56669546	CCAGGAGT others(433): Show CCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCC TCCATTAGCATAAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCA TAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACT TGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTA CCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCC TCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCA TAAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCATAAATGTACT TGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTA TCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02922.hp1 others(1): Show HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0021 a0005c0008t0038 a0005c0008t0021 a0005c0008t0038	a0005c0008t0021g0025 a0005c0008t0038g0119 a0005c0008t0021g0025 a0005c0008t0038g0119	4	450	0.0089	-440	c.-48 others(17): Show c.-48+1590_-48+2029del	ZNF835	ENSG00000127903.14	transcript	ENST00000537055.4	protein_coding	1/1			chr19	TogoVar
ZNF835_chr19_56656980_56676757	56669626	CCAGGAGT others(433): Show CCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCC TCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCA TAAATGTACTTGGGGGTCTACCAGGAGTCCTCCATTAGCATAAATGTACT TGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTA TCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTACCAGGAGTCC TCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCA TAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACT TGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTA CCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0018 a0006c0009t0018	a0006c0009t0018g0148 a0006c0009t0018g0148	1	450	0.0022	-440	c.-48 others(17): Show c.-48+1510_-48+1949del	ZNF835	ENSG00000127903.14	transcript	ENST00000537055.4	protein_coding	1/1			chr19	TogoVar
CDH4_chr20_61247261_61945617	61783549	CTGTGCCC others(432): Show CTGTGCCCCTGGGAGAAATGTAAGCCCAGTTCCTCAGGACAGTTCTCGAG GCCCTCAGATGTCCTGTGCTCCCAGGAGAATATAAGCCTAGTTCCTCGGG ACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATC CCAGTTCCTTGGGACAGTTCTCCGGGCCCTCAGATGTCCTGTGCCCCCGG GAGAAATGTAAGCCTAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGT CTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAA GGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTG GGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAG CCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp2 HG00408.hp2 HG01123.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0012 a0001c0001t0002 a0002c0002t0012	a0001c0001t0002g0078 a0002c0002t0012g0082 a0001c0001t0002g0078 a0002c0002t0012g0082	2	106	0.0189	-439	c.576 others(19): Show c.576+10376_576+10814del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CERS3_chr15_100395395_100533950	100511533	AGTCTGTT others(432): Show AGTCTGTTACATGCCCTGGAGAGGAGCATCGTAAGTCCATTGGGAGCCTG GGCTTCCATTAATGCTCTGTTACATGCCCTAGAGAGGAGCATCGTAAGTC CATTGGGAGCCTGGGTTTCCATTAATGTTCTGTTACATGCCCTGGAGAGG AGCATCGTAAGTCCACTGGGAGCCTGATTTCCATTAATGTTCTGTTACAT GCCCTGGAGAGGAGCATCGTAAGTCCACTGGGAGCCTGGTTTCCATTAAT GTTCTGTTACATGCCCTGGAGAGGAGCATCATAAGTCCACTGGGAGCCTG GGCTTCCATTAATGTTCTGTTACATGCCCTAGAGAGGAGCATCATAAGTC CATTGGGAGCCTGGGCTTCCATTAATGTTCTGTTACATGCCCTAGAGAGG AGCATCGTAAGTCCACTGGGAGCCTGGGCTTCCATTAATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(299): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0008	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0012 a0004c0005 a0005c0008 a0006c0011 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0038 a0001c0003t0006 a0001c0003t0008 a0001c0003t0010 a0001c0003t0025 a0001c0003t0039 a0001c0003t0040 a0001c0007t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0014 a0002c0002t0020 a0002c0002t0028 a0002c0012t0004 a0004c0005t0002 a0005c0008t0015 a0006c0011t0001 a0008c0013t0029	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(298): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0111 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0204 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0003g0296 a0001c0001t0004g0067 a0001c0001t0004g0290 a0001c0001t0006g0161 a0001c0001t0008g0001 a0001c0001t0008g0034 a0001c0001t0008g0104 a0001c0001t0008g0113 a0001c0001t0008g0308 a0001c0001t0013g0173 a0001c0001t0013g0176 a0001c0001t0017g0165 a0001c0001t0017g0166 a0001c0001t0018g0078 a0001c0001t0018g0091 a0001c0001t0019g0249 a0001c0001t0019g0250 a0001c0001t0020g0248 a0001c0001t0021g0320 a0001c0001t0021g0345 a0001c0001t0023g0301 a0001c0001t0024g0164 a0001c0001t0026g0139 a0001c0001t0027g0142 a0001c0001t0030g0115 a0001c0001t0031g0234 a0001c0001t0038g0346 a0001c0003t0006g0181 a0001c0003t0008g0112 a0001c0003t0010g0340 a0001c0003t0010g0341 a0001c0003t0010g0342 a0001c0003t0010g0343 a0001c0003t0010g0344 a0001c0003t0025g0180 a0001c0003t0039g0321 a0001c0003t0040g0319 a0001c0007t0002g0287 a0001c0007t0002g0295 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0001g0106 a0002c0002t0003g0050 a0002c0002t0003g0052 a0002c0002t0003g0056 a0002c0002t0004g0010 a0002c0002t0004g0011 a0002c0002t0004g0013 a0002c0002t0004g0014 a0002c0002t0004g0041 a0002c0002t0004g0043 a0002c0002t0004g0055 a0002c0002t0004g0058 a0002c0002t0004g0273 a0002c0002t0006g0038 a0002c0002t0006g0039 a0002c0002t0006g0101 a0002c0002t0006g0102 a0002c0002t0006g0103 a0002c0002t0006g0105 a0002c0002t0006g0108 a0002c0002t0014g0036 a0002c0002t0014g0241 a0002c0002t0014g0297 a0002c0002t0020g0051 a0002c0002t0028g0305 a0002c0012t0004g0054 a0004c0005t0002g0254 a0004c0005t0002g0262 a0004c0005t0002g0293 a0005c0008t0015g0044 a0005c0008t0015g0047 a0006c0011t0001g0107 a0008c0013t0029g0134	302	362	0.8343	-439	c.-2+ others(15): Show c.-2+9695_-1-9684del	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	2/11			chr15	TogoVar
DHRSX_chrX_2214506_2505976	2281857	AAGAGAGA others(432): Show AAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAG GGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGG AGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATG GGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGA GAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18747.hp1 HG02922.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0039 a0001c0001t0012g0027 a0001c0001t0001g0039 a0001c0001t0012g0027	2	50	0.0400	-439	c.388 others(17): Show c.388+9206_388+9644del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
ERICH1_chr8_659200_736224	675184	GTGAGGAC others(432): Show GTGAGGACAGAGACGCGGCGCCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGG CGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGA CGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGC GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCC TCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCG GCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	378	0.0027	-439	c.305 others(17): Show c.305-1576_305-1138del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FOXQ1_chr6_1307098_1319758	1319319	CAAAATTA others(432): Show CAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGA CCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCA GCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTG GATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAAC CCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCT GTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGG AAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAA ATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00733.hp2 HG00741.hp1 others(18): Show HG00423.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG02109.hp1 HG03688.hp2 HG03710.hp2 HG04199.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0004 a0002c0005 others(2): Show a0001c0001 a0002c0004 a0002c0005 a0003c0002 a0005c0011	a0001c0001t0002 a0002c0004t0001 a0002c0004t0016 others(3): Show a0001c0001t0002 a0002c0004t0001 a0002c0004t0016 a0002c0005t0001 a0003c0002t0003 a0005c0011t0001	a0001c0001t0002g0000 a0002c0004t0001g0000 a0002c0004t0016g0000 others(3): Show a0001c0001t0002g0000 a0002c0004t0001g0000 a0002c0004t0016g0000 a0002c0005t0001g0000 a0003c0002t0003g0000 a0005c0011t0001g0000	21	406	0.0517	-439	c.54 others(11): Show c.5404_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4562		chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805902	CTCCCCCC others(432): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	314	0.0032	-439	c.17 others(11): Show c.1737_*2175del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1616		chr2	TogoVar
SELPLG_chr12_108616895_108638894	108634523	GGGCTGTG others(432): Show GGGCTGTGGCCCTCTGGTAGCCCTCCATCCAATGGGGAGGCCAGCGAGTA AACAATTCGGTGGAACATCATGCCACAATGACACAGCGCAGTGAGTGCCA TCCTGCGGTGAGCAAGGGAGGGGCCTCTCCTTCCATCCTGGGTGGGGGAG GGAGGTTAACAGGAGGAGCTTCCAAGAAGTGGCACTTGAGATGACAAGCC AGGTGGGCATCCCAGGCAGAGAGCACAGCAGAGGCAAAGGCTGGGAGGCC TAAGAATACCCAGACACTTCCAGAAGGGAGGGAATAGGGGGGTCTCCCAG GATCTGCCCTGCGGCTTTGCACCAGGCAAGGGCTCAGGACATGCACAGAA AGATACTCATATCTTGCCTTGCACAAAGTTGTTTTTTTTTTTTTTTTTTG AGATGGAGTTTCACTCTTTTTGCCCAGGCTGGAGTGCAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	486	0.0021	-439	c.-12 others(10): Show c.-1228_-790del	SELPLG	ENSG00000110876.10	transcript	ENST00000550948.2	protein_coding		630		chr12	TogoVar
TERT_chr5_1248167_1300068	1272857	ACATCAGA others(432): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCGCCAT CCAGTCACCACACATCAGACCCCCGGGACCAACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC TGTGACCGATCACCATCCACAGTCACCACACATCAGACCCCACAACCGCC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	392	0.0026	-439	c.228 others(18): Show c.2287-1016_2287-578del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TRIM60_chr4_165026999_165046749	165045961	GAGCCACC others(432): Show GAGCCACCAGGCCTGGAGACATTTCTACTGGTACCTTACCAATGAGGTAA GGTATCTCCATGATTACCTTCATCTACCCCCAAGAGATTGGGCCTGCCAC TCTACGCCGCAGCCGTCCAGAGAGCGGCAGGCCTCGGCCTAAAGATCTGT AGGGTGAGAGACCTGCAAGACTCACAAGAGGGGAAGCCGACAGAGATACC TACCGACGGAGTGCTGTGCCCCCTGGTGCCAACAAGAAAGCTGAGGCTGG GGCTGGGTCAGCAACCGAATTCCAGTTTAGAGGCGGATTTGGTCGTGGAC GTGGTCAGCCACCTCAGTAAAATTGGAGAAGATTATTTTGCACTGAATAA ACTTACAGCCAAAAAAAAAAAAAAAAAAAGGAGATATTGTCATTTGTGAC AACATGGGTGGACCTGGAGGACATTAGGCTGAATGAAATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02717.hp1 others(2): Show HG02109.hp1 HG02145.hp2 HG02717.hp1 HG02970.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0047 a0001c0001t0007g0048 a0001c0001t0007g0016 a0001c0001t0007g0047 a0001c0001t0007g0048	5	388	0.0129	-439	c.44 others(11): Show c.4474_*4912del	TRIM60	ENSG00000176979.14	transcript	ENST00000512596.6	protein_coding		4213		chr4	TogoVar
VAV2_chr9_133756894_133997324	133827629	CTGAGTGG others(432): Show CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACT GAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGA GCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGG GCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGC ATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0060 a0002c0001t0002g0060	1	200	0.0050	-439	c.449 others(17): Show c.449+6204_449+6642del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827722	CCACTGAG others(432): Show CCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACC ACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCAC TGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTG AGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAG CGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCA CGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGG GGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGG CATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCA TCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAG	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0071 a0002c0001t0002g0071	1	200	0.0050	-439	c.449 others(17): Show c.449+6111_449+6549del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827773	CTGAGCAC others(432): Show CTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACT GAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGA GTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGC GGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCAC GGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGG GCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGC ATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCAT CACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCG CCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0037 a0002c0005t0001g0037	1	200	0.0050	-439	c.449 others(17): Show c.449+6060_449+6498del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
ZNF16_chr8_144925358_144955880	144946518	TCTGTGTC others(432): Show TCTGTGTCCTGCTGTGGGGCCTGTGTACTGCTGTGGGGCCTGTACCCTGC TGTGGGCCTGTGTCCTGCTGTGGGTCTGTATCCTGCTGTTGGGCTTGTGT CCTGCTGTTGGGCCTGTGTCCTGCTGTTGGGCCTGTGTCCTACTGTGGGC CTGTACCCTACTGTGGGCCATACCCTGCTGTGGGCCCGTGTCCTGCTGTG GGGCCCGTACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGTACCCTGC TGTGGGCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTC CTGCTGTGGGCCTGTATCCTGCTGTTGGGCCTGTGTCCTGCTGTTGGGCT TGTGTCCTGCTGTGGGGCCTGTGTCCTGCTGTGGGGCCTGTACCCTGCTG TGGGCCATACCCTTCTGTGGGCCTGTACCCTGCTGTGGGC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	404	0.0025	-439	c.-9- others(13): Show c.-9-742_-9-304del	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF516_chr18_76352682_76500242	76393651	GGGCAGGG others(432): Show GGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0142 a0001c0001t0015g0143 a0001c0001t0015g0142 a0001c0001t0015g0143	2	346	0.0058	-439	c.181 others(21): Show c.1811-13787_1811-13349del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
BLVRB_chr19_40442768_40470745	40470307	TTTTTTTA others(431): Show TTTTTTTATTTTTGTTTGAGATGGTGTCTCGCCCTGTTGCCCAAGCCGGA GTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCTGCCTTCCCAGGTTCA AGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGCATGCA CTACCATGCCCAGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACC ATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAAGCGATCTGCCTGCC TTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGCCC CCTCCACTTTAAATTTTTCTTCTTCTTCTTCTTCTTTTTTTCTTGAGAAT GAGTCTTACTCTGTCGCCCAGGATAGAGTGCAGTGGCACAATCTCAGCTC ATTGCAACCTGCGCCTCCTGGGTTCAAACGATTCTCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	362	0.0028	-438	c.-50 others(11): Show c.-5057_-4620del	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding		4563		chr19	TogoVar
CAMKK1_chr17_3855315_3898053	3867993	TCTAACTG others(431): Show TCTAACTGATACGCGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGAT ACACAGGATCTGGGGGAGAAGCAGGCGCAGTCTAACTGATACGTGGGCTC TGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAA GCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCG TCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGAT ACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCAC GGGGGAGATGCAGGCACCGTCTAACTGATACACAGGATCTGGGGGAGACG CAGGCACTGCCTGATTGATACGCGGGCGCTGGGGGAGACGCAGGCCCATC TAACTGATATGTGGGCTCTGGGGGAGACACAGGTGCTGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0217 a0001c0003t0006g0217	1	446	0.0022	-438	c.134 others(19): Show c.1341+1056_1341+1493del	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CNN2_chr19_1021608_1044065	1029129	CTCAGGGG others(431): Show CTCAGGGGACCCTAACCCAAATCATCCCAGGCAGGTCCAGCTCAGGGGAC CCTACCCAAATCATTCCAGGCAGATCTAGCTCAGGGGACCCTAACCCAAA TCATCCCAGGCAGGTCCAGCTCAGGGGACCCTAACCCAAATCATCCCAGG CAGGTCCAGCTCAGGGGACCCTAACCCAAATCATCCCAGGCAGGTCCAGG TCAGGGGACCCTACCCAAATCATCCCAGGCAGGTCTAGCTCAGGGGACCC TAACCCAAATCATCCCAGGCAGGTCCAGCTCAGGGGACCCTAACCCAAAT CATCCCAGGCAGGTCCAGCTCAGGGGACCCTAACCCAAATCATCCTAGGC AGGTCCAGCTCAGGGGACCCTAACCCAAATCATCCCAGGCAGGTCCAGCT CAGGGGACCCTAACCCAAATCATCCCAGGCAGGTCCAGG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01109.hp1 HG01123.hp2 others(31): Show HG00733.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01978.hp1 HG02015.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG03139.hp1 HG03209.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp2 HG04228.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0003c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0017 a0001c0001t0034 a0001c0002t0004 a0001c0003t0003 a0001c0003t0010 a0001c0014t0005 a0003c0012t0005	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0005g0004 others(23): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0005g0004 a0001c0001t0005g0008 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0069 a0001c0001t0005g0074 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0015g0080 a0001c0001t0017g0008 a0001c0001t0017g0073 a0001c0001t0034g0145 a0001c0002t0004g0075 a0001c0002t0004g0076 a0001c0002t0004g0077 a0001c0003t0003g0070 a0001c0003t0010g0068 a0001c0003t0010g0071 a0001c0003t0010g0189 a0001c0003t0010g0190 a0001c0014t0005g0072 a0003c0012t0005g0065	34	390	0.0872	-438	c.64- others(15): Show c.64-1920_64-1483del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSMD1_chr8_2930361_4999914	3795586	CATAGATA others(431): Show CATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATG TATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATG TATAGATATAGATATATATCTATCAAGTACAGCTATAGATATCTATCATG TACAGCTATAGATACCTATCATGTACAGCTATAGATACCTATCATGTACA GATATAGATATATACCTATCATGTACAGATATAGATATATATCTATCATG TACAGATATAGATATATATCTATCATGTACAGATATAGATATATATCTAT CATGTACAGATATATATATCATGTACAGATATAGATATCTATCATGTACA GATATAGATATCTATCATGTACAGATATAGATATCTATCATGTACAGATA TAGATATATATCTATCATGTATATAGATATATATCATGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0114 a0001c0114	a0001c0114t0003 a0001c0114t0003	a0001c0114t0003g0119 a0001c0114t0003g0119	1	126	0.0079	-438	c.819 others(19): Show c.819-41982_819-41545del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
ERICH1_chr8_659200_736224	675321	GTGAGGAC others(431): Show GTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02559.hp2 HG02895.hp2 others(1): Show HG01981.hp1 HG02559.hp2 HG02895.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0182 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0182 a0001c0001t0001g0203	4	378	0.0106	-438	c.305 others(17): Show c.305-1712_305-1275del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FBXL18_chr7_5470797_5518809	5493420	CGAGTAGC others(431): Show CGAGTAGCTGGGACTACAGGCGCCTGCCACCGCACCCAGCTAATTTTTTG TATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAT CTCCTGACCACTTGCTCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTA CAGGCGTGGGCCACTGCACCTGGCCAAAATTTTTTTTTTAAAAGAATAAA GGAAGTGTGGCTCATGAGAGACTGGTTATTTACTTTTGTGTGTGTGTGCG TGCGTGCGTGCGTGCGTGTGTGTGTGTGGAGACAGGGGTCTCACTATGTT GCCCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCTCCTGCCTCAGC CTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACCATGCCTGGTAGTTAA TTTTCTTTTAATTGATTTAAGCAGAAATTCTCAGCCAGG	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0011 a0001c0002t0004g0011	1	338	0.0030	-438	c.178 others(19): Show c.1782-2409_1782-1972del	FBXL18	ENSG00000155034.21	transcript	ENST00000382368.8	protein_coding	3/4			chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241805561	CCCCCCTC others(431): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	314	0.0032	-438	c.13 others(11): Show c.1396_*1833del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1275		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805786	TCCCCCCT others(431): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAA GGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	314	0.0032	-438	c.16 others(11): Show c.1621_*2058del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1500		chr2	TogoVar
LUC7L_chr16_183990_234449	186730	GGGGAACA others(431): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01928.hp1 HG01081.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0118 a0001c0001t0001g0005 a0001c0001t0001g0118	2	350	0.0057	-438	c.20 others(11): Show c.2030_*2467del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2259		chr16	TogoVar
LUC7L_chr16_183990_234449	186747	GGGGAACA others(431): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	350	0.0029	-438	c.20 others(11): Show c.2013_*2450del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2242		chr16	TogoVar
MYT1_chr20_64159452_64247253	64173836	CCTGCAGC others(431): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTA GCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03195.hp2 HG02818.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0008 a0001c0001t0008g0127 a0001c0001t0003g0008 a0001c0001t0008g0127	2	223	0.0090	-438	c.-99 others(17): Show c.-99+9100_-99+9537del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NEU4_chr2_241804193_241822413	241805561	CCCCCCTC others(431): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0187 a0001c0002t0001g0187	1	319	0.0031	-438	c.-37 others(11): Show c.-3716_-3279del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3631		chr2	TogoVar

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Search Results (Total: 10000 hits)