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
CSNK1G2_chr19_1936172_1986338	1967647	GCCACCCT others(168): Show GCCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTGCC CCCACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCCTCCCTCCTCC CCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTC CTCCCTCCTCCCCAGGCTGCCCCCGA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18522.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0199 a0001c0002t0002g0190 a0001c0002t0002g0199	2	382	0.0052	-175	c.-26 others(19): Show c.-265-1820_-265-1646del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSTPP1_chr11_46931761_47167247	47038202	ACTCCTCA others(168): Show ACTCCTCACTTCCCAGTAGGGGCGGCCGGCCAGAGGCGCCCCTCACTTCC CGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCTGG ACGGAGTGGCTGGCCGGACAGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	224	0.0045	-175	c.150 others(19): Show c.150-14157_150-13983del	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CTNNA2_chr2_79508051_80653780	80142775	GAAAGGGG others(168): Show GAAAGGGGCTTTACTGGCCTAACCAGAAACAGAAACTAAGGACCCATGAC TGTATTCTCTCCCTTGGACAACCTTGTATGGAGTAACAAAGGGCCATTGG ATCATTCCTCAGGTGCCCCATCAAGATTAACTACCGTTGACAATGCCTCA TAATGATAAGTGGAAAAGAGAGATGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18906.hp1 HG01884.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0004g0061 a0001c0003t0001g0013 a0001c0001t0004g0061 a0001c0003t0001g0013	2	68	0.0294	-175	c.105 others(23): Show c.1056+233039_1056+233213del	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYB5R3_chr22_42612840_42654392	42634624	GATTGATT others(168): Show GATTGATTGATTGATTGATTGAGACAGCGTCTTGCTCTGTAGCCCAGGCT GGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTT CACGCCATTCTCCTGCTTCAGCCTCTGGAGTAGCTGGGATTACAGGCATC TGCCACCACGCCCGGCTAATTTTCAT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02523.hp1 HG02809.hp1 others(1): Show HG00423.hp2 HG02523.hp1 HG02809.hp1 NA18612.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0001c0001t0008 a0001c0001t0029 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0029 a0003c0005t0061	a0001c0001t0003g0206 a0001c0001t0008g0261 a0001c0001t0029g0205 others(1): Show a0001c0001t0003g0206 a0001c0001t0008g0261 a0001c0001t0029g0205 a0003c0005t0061g0317	4	360	0.0111	-175	c.153 others(17): Show c.153+1916_153+2090del	CYB5R3	ENSG00000100243.22	transcript	ENST00000352397.10	protein_coding	2/8			chr22	TogoVar
DAGLB_chr7_6404129_6452954	6421309	AGGCAGCG others(168): Show AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG GCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCG GGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAG CGCGGGAGGCGCAGGCAGCGCGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03710.hp1 HG04228.hp2 others(4): Show HG02040.hp1 HG03710.hp1 HG04228.hp2 NA18969.hp2 NA18987.hp2 NA18990.hp2 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0021 a0001c0002 a0008c0021	a0001c0002t0002 a0008c0021t0002 a0001c0002t0002 a0008c0021t0002	a0001c0002t0002g0088 a0001c0002t0002g0105 a0001c0002t0002g0121 others(4): Show a0001c0002t0002g0088 a0001c0002t0002g0105 a0001c0002t0002g0121 a0001c0002t0002g0133 a0001c0002t0002g0149 a0001c0002t0002g0175 a0008c0021t0002g0148	7	380	0.0184	-175	c.121 others(17): Show c.1218+243_1218+417del	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DCBLD2_chr3_98790941_98906695	98837472	CCCCCCCA others(168): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGATGGGGCAGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACG GGGCGGCTGGCCGGGCGGAGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02738.hp2 HG02602.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0236 a0001c0001t0001g0187 a0001c0001t0001g0236	2	330	0.0061	-175	c.571 others(19): Show c.571+11814_571+11988del	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98837511	GGGGGGCC others(168): Show GGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCAGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG03927.hp1 HG02293.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0266 a0001c0001t0001g0181 a0001c0001t0001g0266	2	330	0.0061	-175	c.571 others(19): Show c.571+11775_571+11949del	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98837521	CCCCCCCA others(168): Show CCCCCCCACCTCCCTCCCGGATGGGGCAGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG04199.hp1 HG00642.hp2 HG01081.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0256 a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0256	3	330	0.0091	-175	c.571 others(19): Show c.571+11765_571+11939del	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCDC2C_chr2_3698575_3853008	3786348	CGTGTGTC others(168): Show CGTGTGTCCCGCCTGTGCACGGAGCCTCCGGTGCGGGTGTGTCCCGCCTG TGCACGGAGCCTCCGGTGCGGGTGTGTCCCGCCTGTGCACGGAGCCTCCG GTGCGGGTGTGTCCCGCCTGTGCACGGAGCCTCCGGTGCGGGTGTGTCCC GCCTGTGCACGGAGCCTCCGGTGCGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(6): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG01516.hp2 HG02071.hp2 HG02630.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0002c0003t0001 a0002c0004t0003	a0001c0001t0001g0079 a0001c0001t0001g0168 a0001c0001t0003g0166 others(6): Show a0001c0001t0001g0079 a0001c0001t0001g0168 a0001c0001t0003g0166 a0001c0001t0004g0080 a0001c0001t0006g0144 a0001c0002t0002g0122 a0002c0003t0001g0216 a0002c0004t0003g0193 a0002c0004t0003g0197	9	324	0.0278	-175	c.106 others(19): Show c.1065+1451_1065+1625del	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDC_chr7_50453442_50570405	50460156	TGGCCAGC others(168): Show TGGCCAGCCGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCCCCTGGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCTGGCCCAG CCTGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG02735.hp1 others(18): Show HG00323.hp1 HG00609.hp2 HG02735.hp1 HG03669.hp1 HG03927.hp1 HG04115.hp1 NA18747.hp2 NA18944.hp1 NA18945.hp2 NA18949.hp1 NA18952.hp1 NA18956.hp2 NA18960.hp2 NA18978.hp1 NA18999.hp2 NA19000.hp2 NA19007.hp2 NA19056.hp2 NA19072.hp2 NA19075.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0007 a0001c0007t0001 a0001c0001t0001 a0001c0001t0007 a0001c0007t0001	a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0104 others(18): Show a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0192 a0001c0001t0001g0225 a0001c0001t0001g0238 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0328 a0001c0001t0007g0296 a0001c0007t0001g0289 a0001c0007t0001g0308	21	360	0.0583	-175	c.19 others(17): Show c.19-1488_*19-1314del	DDC	ENSG00000132437.18	transcript	ENST00000444124.7	protein_coding	14/14			chr7	TogoVar
DDX51_chr12_132131594_132149319	132135017	ACGGTGCC others(168): Show ACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCC TCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCGAGTATGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG03486.hp2 HG02083.hp1 HG03486.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0019 a0002c0002 a0011c0019	a0002c0002t0002 a0011c0019t0002 a0002c0002t0002 a0011c0019t0002	a0002c0002t0002g0023 a0011c0019t0002g0053 a0002c0002t0002g0023 a0011c0019t0002g0053	2	334	0.0060	-175	c.40 others(11): Show c.4080_*4254del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1576		chr12	TogoVar
DEAF1_chr11_639233_700222	647806	AGTGCTGG others(168): Show AGTGCTGGGAGCAGGTGGGTGGACTTGACCCAGGCGGTGCTGGGAGCAGG TGGGTGGACTTGACCCAGGCGGTGCTGGGAGCAGGTGGGTGGACTTGACC CAGGCGGTGCTGGGAGCAGGTGGGTGGACTTGACCCAGGCGGTGCTGGGA GCAGGTGGGTGGACTTGACCCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01884.hp2 others(17): Show HG01074.hp2 HG01243.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02145.hp1 HG02148.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03471.hp2 NA18522.hp2 NA18943.hp1 NA18945.hp2 NA19011.hp1 NA19065.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0052 others(17): Show a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0002g0127 a0001c0001t0006g0031 a0001c0002t0001g0201 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0241 a0001c0002t0001g0255 a0001c0002t0001g0267 a0001c0002t0001g0300 a0001c0002t0001g0301	20	345	0.0580	-175	c.159 others(19): Show c.1594-3327_1594-3153del	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	11/11			chr11	TogoVar
DMD_chrX_31114222_33216549	32217543	CTGAAAGG others(168): Show CTGAAAGGAGTAATAAGTTCTAGTGTTCTATTGCATAGTAATATGAACAA AGTTACCAATATTGTGCTGTATATTTCAAAATAGTGAAAGAGAATTTTAA ATTTTCTCACCACAGAGAAATTATAAATGTTTGAGGCTATGGATCTGCCA AGAAACCTGATTTGATCATTACACAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp1 HG03486.hp1 others(1): Show HG02976.hp2 HG03098.hp1 HG03486.hp1 HG03579.hp1	a0002 a0005 a0002 a0005	a0002c0012 a0002c0020 a0005c0053 others(1): Show a0002c0012 a0002c0020 a0005c0053 a0005c0057	a0002c0012t0002 a0002c0020t0028 a0005c0053t0004 others(1): Show a0002c0012t0002 a0002c0020t0028 a0005c0053t0004 a0005c0057t0001	a0002c0012t0002g0098 a0002c0020t0028g0010 a0005c0053t0004g0103 others(1): Show a0002c0012t0002g0098 a0002c0020t0028g0010 a0005c0053t0004g0103 a0005c0057t0001g0109	4	126	0.0318	-175	c.629 others(17): Show c.6291-655_6291-481del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78			chrX	TogoVar
DNAJC25_chr9_111626334_111659345	111641365	CCCCCGCC others(168): Show CCCCCGCCCGGCCAGCCGCCCTGTCTGGGAGGGAGGTGGGGGGGTCAGCC CTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGTGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCGG TCCGGGAGGGAGGTGGGGGGGTCGGA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0146 a0001c0001t0006g0146	1	412	0.0024	-175	c.337 others(17): Show c.337-5721_337-5547del	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENOSF1_chr18_665318_717630	667281	GATGGTGA others(168): Show GATGGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGA TGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATG GTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATGGA GATGGTGATGGTGATGGTGATGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	418	0.0024	-175	c.68 others(11): Show c.6849_*7023del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3036		chr18	TogoVar
ESYT2_chr7_158725997_158834509	158803880	GGAGAAGG others(168): Show GGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGC GCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAA ACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGT GAGGCGCGCGACAAACCCAAACTGTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02922.hp2 HG01069.hp1 HG01071.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0043 a0001c0001t0010g0045 a0001c0001t0010g0047 a0001c0001t0010g0043 a0001c0001t0010g0045 a0001c0001t0010g0047	3	370	0.0081	-175	c.331 others(17): Show c.331-4983_331-4809del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804019	TCGAGAAG others(168): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACTGTTGAGAAGGGTGAGG CGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCA AACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGG TGAGGCGCGCGACAAACCCAAACCGC	T T	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0134 a0001c0001t0013g0134	1	370	0.0027	-175	c.331 others(17): Show c.331-5122_331-4948del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857150	ATATATAT others(168): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATTTTACCTCTACTTAACCTCCCTGGATGATTGTCTTAGTGTCACATATA TATATATATATATATATATATATACACGTATATATATATATATATATACA CGTATATATATATATATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	102	0.0098	-175	c.173 others(21): Show c.1735-38407_1735-38233del	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM210A_chr18_13658347_13731558	13674320	TTATTTCC others(168): Show TTATTTCCAGTTTTCTGATTATTAACATTCCTGAGCCCTAGCTTCTTGAT TTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTTATTTCCAGT TTCCTGATTATTAACATTCCTGAGCCCTAGCTTCTTGATTTCCAGTTTCC TGATTATTAACATTCCTGAGCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01258.hp2 HG02258.hp1 others(18): Show HG00733.hp2 HG01258.hp2 HG02258.hp1 HG02486.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp2 HG03041.hp1 HG03492.hp2 HG06807.hp1 NA18522.hp2 NA18959.hp1 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18990.hp1 NA18998.hp2 NA19006.hp2 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0036 a0001c0003t0001 a0001c0003t0032	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0149 others(17): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0188 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0006g0263 a0001c0001t0007g0055 a0001c0001t0008g0160 a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0017g0097 a0001c0001t0036g0195 a0001c0003t0001g0142 a0001c0003t0032g0037	21	326	0.0644	-175	c.474 others(17): Show c.474-2522_474-2348del	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13674671	CGACTTCA others(168): Show CGACTTCATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTAGCTTC TTGATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTTATTT CCAGTTTTCTGATTATTAACATTCCTGAGCCCCGACTTCATTTCCAGTTT CCTGATTATTAACATTCCTGAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0048 a0001c0001t0013g0048	1	326	0.0031	-175	c.474 others(17): Show c.474-2873_474-2699del	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FLACC1_chr2_201283271_201362345	201283273	ACCCCCAC others(168): Show ACCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGG GCGGCTGGCCGGGCGGGGGGTTGACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0183 a0002c0002t0002g0183	1	370	0.0027	-175	c.52 others(11): Show c.5207_*5381del	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		4997		chr2	TogoVar
GABRG3_chr15_26966181_27546984	27305620	TATATATA others(168): Show TATATATAATATAAACCTATATGTTTATATATAAACATATATAATATAAA CCTATATGTTTATATATAAACATATATAATATAAACCTATATGTTTATAT ATAAACATATATAATATAAACCTATATGTTTATATATAAACATATATAAT ATAAACCTATATGTTTATATATAAAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp2 HG03540.hp2 others(1): Show HG02109.hp1 HG03209.hp2 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0006 a0001c0003t0022 a0001c0004t0002 others(1): Show a0001c0002t0006 a0001c0003t0022 a0001c0004t0002 a0001c0004t0030	a0001c0002t0006g0052 a0001c0003t0022g0058 a0001c0004t0002g0061 others(1): Show a0001c0002t0006g0052 a0001c0003t0022g0058 a0001c0004t0002g0061 a0001c0004t0030g0063	4	92	0.0435	-175	c.271 others(19): Show c.271-20903_271-20729del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GMEB2_chr20_63582605_63632101	63609029	CCTCTGAC others(168): Show CCTCTGACCCACACCTCCATTTCTAGAAACATGCCCCTGACCCCACACCT CCATTTCTAGAAACATGCCCCTCTGACCCACCTCCATTTCCAGAAACATG CCCCTCTGACCCCACACATCCATTTCTAGAAACATGTCCCTCTGACTCAC CTCCATTTCTAGAAACATGCCACTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00621.hp2 others(90): Show HG00323.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02074.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18944.hp2 NA18946.hp2 NA18953.hp2 NA18955.hp1 NA18966.hp1 NA18970.hp1 NA18981.hp2 NA18984.hp2 NA19067.hp2 NA19080.hp2 NA19081.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 others(1): Show a0001c0001 a0001c0008 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0008t0001 a0001c0011t0001 a0001c0012t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0027 others(78): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0077 a0001c0001t0001g0125 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0282 a0001c0001t0009g0201 a0001c0001t0009g0216 a0001c0001t0011g0120 a0001c0001t0011g0254 a0001c0001t0015g0217 a0001c0001t0016g0235 a0001c0008t0001g0032 a0001c0011t0001g0241 a0001c0012t0001g0113	93	330	0.2818	-175	c.132 others(17): Show c.132-4364_132-4190del	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNAQ_chr9_77711097_78036811	77761582	CCCGGGAG others(168): Show CCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTC AGCCCCCCACCCGGCCAGCCGACCCGTCTGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19240.hp2 NA21309.hp2 HG06807.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0078 a0001c0001t0033 a0001c0001t0078	a0001c0001t0033g0280 a0001c0001t0033g0281 a0001c0001t0078g0085 a0001c0001t0033g0280 a0001c0001t0033g0281 a0001c0001t0078g0085	3	282	0.0106	-175	c.735 others(19): Show c.735+32706_735+32880del	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	5/6			chr9	TogoVar
GOLGA3_chr12_132763914_132833869	132787708	GGGACCCC others(168): Show GGGACCCCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGACC CCTCCCCGGAGACCACGGGACCCCTCCCCGGAGACCACGGGACCCCTCCC CGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGA CCCCGGGACCCCTTCCCGAGACCCCA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp2 HG03225.hp1 others(4): Show HG02559.hp2 HG02965.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0014 a0005c0006t0062 others(2): Show a0005c0006t0001 a0005c0006t0014 a0005c0006t0062 a0005c0006t0063 a0005c0006t0065	a0005c0006t0001g0021 a0005c0006t0014g0018 a0005c0006t0014g0019 others(4): Show a0005c0006t0001g0021 a0005c0006t0014g0018 a0005c0006t0014g0019 a0005c0006t0014g0020 a0005c0006t0062g0016 a0005c0006t0063g0013 a0005c0006t0065g0017	7	308	0.0227	-175	c.281 others(18): Show c.2812-1096_2812-922del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GPATCH2_chr1_217421992_217636090	217523707	TGGTGGCC others(168): Show TGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTGA CCCCCCCACCTCCCTCCTGGACGGGGTGGCTGGCCGGGCGGGGGGCTGAC CCCCACACCTCCCTCCCGGATGGGGC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	188	0.0053	-175	c.109 others(19): Show c.1099-8993_1099-8819del	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPR176_chr15_39794008_39925266	39894035	AGGCAGAG others(168): Show AGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02965.hp2 NA18522.hp1 HG02145.hp2 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0156 a0001c0003t0004g0255 a0001c0003t0004g0257 a0001c0003t0004g0156 a0001c0003t0004g0255 a0001c0003t0004g0257	3	312	0.0096	-175	c.172 others(19): Show c.172+25645_172+25819del	GPR176	ENSG00000166073.12	transcript	ENST00000561100.2	protein_coding	1/2			chr15	TogoVar
GRIN1_chr9_137134154_137173756	137144786	GTGGTAGG others(168): Show GTGGTAGGGACAGGGGTGGGAGACACGAGGGGGTCCCAGGGTCTAGAAAG TGTCCCCAGGGTGGCAGGGATGGGATGGGAGACACGAGGGGGTCCCAGAG TCTAGAAAGTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAGGAAGGGGGT CCCAGGGTCCAGAAAGTGTCCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	298	0.0034	-175	c.394 others(15): Show c.394-939_394-765del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19			chr9	TogoVar
GRTP1_chr13_113319163_113369130	113346612	CAGTGGAC others(168): Show CAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCT CTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGG GAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGA GCGGACCTGGGAGGACCTCTGTGGCA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02922.hp2 HG02055.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0150 a0001c0001t0002g0151	2	288	0.0069	-175	c.466 others(17): Show c.466-1828_466-1654del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
IGHMBP2_chr11_68898891_68945601	68928730	AAGGAAAA others(168): Show AAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTT TTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTC ACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAAT ATTTAGAACTCAGACAGCATCCCTTG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp1 HG03453.hp1 HG03471.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0012 a0002c0015t0012	a0002c0015t0012g0220 a0002c0015t0012g0224 a0002c0015t0012g0220 a0002c0015t0012g0224	2	374	0.0054	-175	c.106 others(17): Show c.1061-452_1061-278del	IGHMBP2	ENSG00000132740.10	transcript	ENST00000255078.8	protein_coding	7/14			chr11	TogoVar
IL10_chr1_206762602_206777494	206777231	AAAAAAAA others(168): Show AAAAAAAAAAAAAAAAAAAAAAAAAATTTAGCTAGGTGTGGTGGTTGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATGGCGTGAACC TGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	-175	c.-49 others(11): Show c.-4971_-4797del	IL10	ENSG00000136634.7	transcript	ENST00000423557.1	protein_coding		4738		chr1	TogoVar
IL19_chr1_206765773_206847981	206777231	AAAAAAAA others(168): Show AAAAAAAAAAAAAAAAAAAAAAAAAATTTAGCTAGGTGTGGTGGTTGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATGGCGTGAACC TGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0152 a0001c0001t0006g0152	1	366	0.0027	-175	c.-14 others(19): Show c.-149+6173_-149+6347del	IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ITGB2_chr21_44880953_44925899	44912781	ACCCCAGG others(168): Show ACCCCAGGGTGCAGGGTCCAGCCAGCTTCAGGACTCCCCCAGGGTGCAGG GTCCAGCCGGCTTCAGGACTCCCCCAGGGTGCAGGGTCCAGCCGGCTTCA GGACTCCCCCAGGGTGCAGGGTCCAGCCGGCTTCAGGACTCCCCCAGGGT GCAGGGTCCAGCCGGCTTCAGGACTC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0196 a0001c0009t0001g0196	1	444	0.0023	-175	c.-3- others(15): Show c.-3-2171_-3-1997del	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
ITGB2_chr21_44880953_44925899	44912804	AGCTTCAG others(168): Show AGCTTCAGGACTCCCCCAGGGTGCAGGGTCCAGCCGGCTTCAGGACTCCC CCAGGGTGCAGGGTCCAGCCGGCTTCAGGACTCCCCCAGGGTGCAGGGTC CAGCCGGCTTCAGGACTCCCCCAGGGTGCAGGGTCCAGCCGGCTTCAGGA CTCCCCCAGGGTGCAGGGTCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01934.hp1 NA18956.hp1 others(6): Show HG00140.hp1 HG01934.hp1 NA18956.hp1 NA18962.hp1 NA19000.hp1 NA19002.hp1 NA19010.hp2 NA19057.hp1 NA19085.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0005c0031	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0011t0001 a0005c0031t0001	a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0386 others(6): Show a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0386 a0001c0002t0001g0040 a0001c0002t0001g0140 a0001c0003t0001g0046 a0001c0003t0001g0380 a0001c0011t0001g0133 a0005c0031t0001g0150	9	444	0.0203	-175	c.-3- others(15): Show c.-3-2194_-3-2020del	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
ITGB5_chr3_124756948_124892365	124789925	AGGGTTAT others(168): Show AGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCT GACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAA CCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGT TAACAGAACCGCCTCTGACTAGACAG	A A	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	352	0.0028	-175	c.169 others(19): Show c.1693+6288_1693+6462del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
KCNJ6_chr21_37602373_37921457	37756650	CGTGATGA others(168): Show CGTGATGATTCCAGCCTGGAGTGAGCACTCCCTCACAGCGTGATGATTCC AGCCTGGAGTGAGCACTCCCTCACAGATTCAAGCCCGGAGTGAGCACTCC CTCACAGCATGATGGTTCCAGCCCAAGTGAGCACTCCCTCACAGATTCCA GCCCGGAGTGAGCACTCCCTCACAGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG01358.hp1 others(11): Show HG00741.hp2 HG01175.hp1 HG01358.hp1 HG01891.hp1 HG01975.hp2 HG02109.hp2 HG02257.hp2 HG02300.hp2 HG02717.hp1 HG03471.hp2 HG03486.hp1 HG04115.hp2 NA19012.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0001t0085 a0001c0001t0102 others(11): Show a0001c0001t0023 a0001c0001t0085 a0001c0001t0102 a0001c0001t0108 a0001c0001t0122 a0001c0001t0137 a0001c0001t0139 a0001c0001t0162 a0001c0001t0163 a0001c0001t0173 a0001c0001t0185 a0001c0002t0005 a0001c0002t0147 a0001c0002t0189	a0001c0001t0023g0161 a0001c0001t0085g0169 a0001c0001t0102g0107 others(11): Show a0001c0001t0023g0161 a0001c0001t0085g0169 a0001c0001t0102g0107 a0001c0001t0108g0062 a0001c0001t0122g0180 a0001c0001t0137g0031 a0001c0001t0139g0100 a0001c0001t0162g0017 a0001c0001t0163g0056 a0001c0001t0173g0128 a0001c0001t0185g0194 a0001c0002t0005g0127 a0001c0002t0147g0189 a0001c0002t0189g0197	14	198	0.0707	-175	c.26- others(17): Show c.26-41694_26-41520del	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KIF25_chr6_167992671_168050091	167997207	TGGGGGGC others(168): Show TGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGA GGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19056.hp2 NA19063.hp1 others(6): Show NA19012.hp2 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19074.hp2 NA19086.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0002c0002t0003 a0002c0002t0030 a0001c0001t0014 a0002c0002t0003 a0002c0002t0030	a0001c0001t0014g0040 a0002c0002t0003g0010 a0002c0002t0003g0076 others(6): Show a0001c0001t0014g0040 a0002c0002t0003g0010 a0002c0002t0003g0076 a0002c0002t0003g0079 a0002c0002t0003g0081 a0002c0002t0003g0084 a0002c0002t0003g0162 a0002c0002t0030g0080 a0002c0002t0030g0083	9	375	0.0240	-175	c.-22 others(11): Show c.-2261_-2087del	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		463		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997232	TGGGGGGT others(168): Show TGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGGCGGGGGAATCTGCAGAGATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0021	a0003c0004t0021g0103 a0003c0004t0021g0103	1	375	0.0027	-175	c.-22 others(11): Show c.-2236_-2062del	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		438		chr6	TogoVar
KLHL11_chr17_41843518_41870423	41865873	GTTTTTTG others(168): Show GTTTTTTGTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGCTCTTCGCTTATTGCAACCTCCGCTGCCCGGG TTCAAGCGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCACTCCAGGCTAATTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0148 a0001c0001t0014g0148	1	366	0.0027	-175	c.-67 others(9): Show c.-678_-504del	KLHL11	ENSG00000178502.6	transcript	ENST00000319121.4	protein_coding		451		chr17	TogoVar
LCOR_chr10_96827298_97000956	96941066	CCCCCCCG others(168): Show CCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC AGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0249 a0001c0001t0118g0249	1	288	0.0035	-175	c.-18 others(19): Show c.-183-3040_-183-2866del	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LOC128462377_chr16_89312046_89423292	89421383	GGATGGGA others(168): Show GGATGGGACCATCACCCGTCCATGTCTGGGGGCGGGGGTGAGACACGAAG GGTCGGTGTGTGATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGT CTGGGGGTGGGGCTGAGACACGAAGGGTCGGTGTGTGGTGACGGAGTCAG GGATGGGACCATCACCCGTCCATGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0010 a0001c0001t0000g0010	1	366	0.0027	-175	c.-32 others(11): Show c.-3266_-3092del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding		3092		chr16	TogoVar
LRRFIP1_chr2_237622587_237786643	237756903	AAGAGGAA others(168): Show AAGAGGAAGGCAACTCAAAGGCAGAAGTAGAAGATGTGACACAGGAAGCT GAGGTTGGAGCGATGCGAGAGAGGGGCCATGAGCCAAGGAAAGCAGCTCA GTCTTAGAAGCTGAAAAAGGCAGGGAAACAGATTCTCCCTAGAGCCTTCC AGAAAGGCTTGATTTTAGCCCATAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19057.hp1 NA19068.hp2 others(1): Show HG00438.hp1 NA19057.hp1 NA19068.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0043 a0001c0002t0003 a0001c0002t0004 a0001c0002t0043	a0001c0002t0003g0163 a0001c0002t0004g0057 a0001c0002t0004g0071 others(1): Show a0001c0002t0003g0163 a0001c0002t0004g0057 a0001c0002t0004g0071 a0001c0002t0043g0058	4	276	0.0145	-175	c.113 others(17): Show c.1132-551_1132-377del	LRRFIP1	ENSG00000124831.20	transcript	ENST00000308482.14	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K15_chrX_19355059_19520508	19452223	GAGAAGAG others(168): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGAAGAGAAGAGAAGAGA AGAGAGAAAAGAAAAGAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0162 a0002c0002t0021g0162	1	163	0.0061	-175	c.995 others(17): Show c.995+4515_995+4689del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MS4A1_chr11_60450847_60475752	60451584	ATCCGGGA others(168): Show ATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCTCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCAGGCCAGCCGCCCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(89): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01257.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp2 HG03491.hp1 HG03579.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18976.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18998.hp1 NA19000.hp2 NA19003.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19085.hp1 NA19085.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0002c0004t0002	a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0026 others(30): Show a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0100 a0001c0001t0003g0058 a0001c0001t0004g0004 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0008g0023 a0001c0001t0009g0006 a0001c0001t0012g0016 a0001c0001t0013g0017 a0001c0001t0016g0032 a0001c0001t0022g0007 a0001c0001t0023g0007 a0002c0004t0002g0001	92	446	0.2063	-175	c.-46 others(11): Show c.-4640_-4466del	MS4A1	ENSG00000156738.18	transcript	ENST00000345732.9	protein_coding		4262		chr11	TogoVar
MS4A5_chr11_60424572_60452792	60451584	ATCCGGGA others(168): Show ATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCTCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCAGGCCAGCCGCCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(84): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG01074.hp1 HG01081.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02735.hp2 HG03017.hp2 HG03209.hp1 HG03239.hp2 HG03491.hp2 HG03579.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp2 NA18941.hp1 NA18944.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18976.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp2 NA19068.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0001t0001 a0001c0002t0001 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0030 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0149 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0008t0001g0001	87	462	0.1883	-175	c.38 others(11): Show c.3826_*4000del	MS4A5	ENSG00000166930.7	transcript	ENST00000300190.7	protein_coding		3793		chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1166894	GACACACA others(168): Show GACACACAGTCTCTGCACGATGAGACCCTGCACCCAACACACAGTCTCCC CAAGATGAGACCCTGCACCCAACACACAGTCTCCCCAAGATGAGACCCTG CACCCGACACACAGTCTCTGCACGATGAGACCCTGCACCCAACACACAGT CTCCCCAAGATGAGACCCTGCACCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(108): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02738.hp1 HG02896.hp2 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19007.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp2 NA19089.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0007 a0011 a0012 a0022 a0023 a0024 a0034 a0037 a0038 a0039 a0057 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0073 a0074 a0075	a0001c0001 a0001c0004 a0001c0011 others(36): Show a0001c0001 a0001c0004 a0001c0011 a0001c0016 a0001c0027 a0001c0028 a0001c0053 a0001c0059 a0001c0064 a0001c0067 a0002c0069 a0003c0080 a0004c0003 a0004c0024 a0004c0045 a0004c0046 a0004c0050 a0007c0010 a0011c0018 a0012c0017 a0022c0060 a0022c0061 a0023c0026 a0024c0025 a0034c0078 a0037c0051 a0038c0048 a0039c0049 a0057c0052 a0061c0058 a0062c0062 a0063c0056 a0064c0054 a0065c0066 a0066c0071 a0067c0068 a0073c0072 a0074c0043 a0075c0073	a0001c0001t0001 a0001c0004t0001 a0001c0011t0001 others(37): Show a0001c0001t0001 a0001c0004t0001 a0001c0011t0001 a0001c0016t0001 a0001c0027t0001 a0001c0027t0005 a0001c0028t0001 a0001c0053t0001 a0001c0059t0001 a0001c0064t0001 a0001c0067t0001 a0002c0069t0001 a0003c0080t0001 a0004c0003t0001 a0004c0024t0001 a0004c0045t0001 a0004c0046t0001 a0004c0050t0001 a0007c0010t0001 a0011c0018t0001 a0012c0017t0001 a0022c0060t0001 a0022c0061t0001 a0023c0026t0001 a0024c0025t0001 a0034c0078t0001 a0037c0051t0001 a0038c0048t0001 a0039c0049t0001 a0057c0052t0001 a0061c0058t0001 a0062c0062t0001 a0063c0056t0001 a0064c0054t0001 a0065c0066t0001 a0066c0071t0001 a0067c0068t0001 a0073c0072t0001 a0074c0043t0001 a0075c0073t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0004t0001g0029 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0011t0001g0006 a0001c0011t0001g0016 a0001c0016t0001g0013 a0001c0016t0001g0221 a0001c0027t0001g0011 a0001c0027t0005g0177 a0001c0028t0001g0208 a0001c0028t0001g0215 a0001c0053t0001g0031 a0001c0059t0001g0209 a0001c0064t0001g0161 a0001c0067t0001g0212 a0002c0069t0001g0190 a0003c0080t0001g0180 a0004c0003t0001g0014 a0004c0003t0001g0027 a0004c0003t0001g0033 a0004c0003t0001g0168 a0004c0003t0001g0173 a0004c0003t0001g0175 a0004c0003t0001g0178 a0004c0003t0001g0185 a0004c0003t0001g0200 a0004c0003t0001g0201 a0004c0003t0001g0202 a0004c0003t0001g0204 a0004c0003t0001g0205 a0004c0003t0001g0210 a0004c0003t0001g0213 a0004c0003t0001g0214 a0004c0003t0001g0216 a0004c0003t0001g0219 a0004c0024t0001g0001 a0004c0045t0001g0001 a0004c0046t0001g0207 a0004c0050t0001g0033 a0007c0010t0001g0030 a0007c0010t0001g0192 a0007c0010t0001g0193 a0007c0010t0001g0218 a0011c0018t0001g0026 a0011c0018t0001g0199 a0012c0017t0001g0001 a0022c0060t0001g0015 a0022c0061t0001g0041 a0023c0026t0001g0011 a0023c0026t0001g0162 a0024c0025t0001g0015 a0034c0078t0001g0037 a0037c0051t0001g0203 a0038c0048t0001g0174 a0039c0049t0001g0001 a0057c0052t0001g0166 a0061c0058t0001g0222 a0062c0062t0001g0157 a0063c0056t0001g0171 a0064c0054t0001g0197 a0065c0066t0001g0039 a0066c0071t0001g0148 a0067c0068t0001g0160 a0073c0072t0001g0176 a0074c0043t0001g0001 a0075c0073t0001g0001	111	292	0.3801	-175	c.138 others(17): Show c.1387-970_1387-796del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	11/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1166911	CGATGAGA others(168): Show CGATGAGACCCTGCACCCAACACACAGTCTCCCCAAGATGAGACCCTGCA CCCAACACACAGTCTCCCCAAGATGAGACCCTGCACCCGACACACAGTCT CTGCACGATGAGACCCTGCACCCAACACACAGTCTCCCCAAGATGAGACC CTGCACCCAACACACAGTCTCCCCAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19240.hp1 NA20129.hp2 HG02723.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0032 a0001c0004t0001g0196 a0001c0004t0001g0032 a0001c0004t0001g0196	3	292	0.0103	-175	c.138 others(17): Show c.1387-933_1387-759del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	11/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO9A_chr15_71817291_72123150	72101708	CCCGGCCA others(168): Show CCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGCGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCGA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01952.hp2 HG01993.hp1 others(1): Show HG01934.hp1 HG01952.hp2 HG01993.hp1 HG02273.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0060 a0004c0005t0008 a0004c0005t0060	a0004c0005t0008g0302 a0004c0005t0008g0303 a0004c0005t0008g0304 others(1): Show a0004c0005t0008g0302 a0004c0005t0008g0303 a0004c0005t0008g0304 a0004c0005t0060g0301	4	308	0.0130	-175	c.-72 others(19): Show c.-72+15797_-72+15971del	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	1/41			chr15	TogoVar
NPAS1_chr19_47014837_47050775	47027528	TCCCTTCT others(168): Show TCCCTTCTCTCTGCCCCTGGTCTCCTGTCTGTCTGCCCCTGGTCTCCCTT CTCTCTGCCCCTGGTCTCCCGTCTCTCTGCCCCTGGTCTCCCGTCTCTCT GCCCCTGGTCTCCCGTCTGTCTGCCCCTGGTCTCCCTTCTCTCTGCCCCT GGTCTCCTGTCTGTCTGCCCCTGGTC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03471.hp2 HG02976.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0195 a0001c0004t0001g0320 a0001c0002t0001g0195 a0001c0004t0001g0320	2	418	0.0048	-175	c.359 others(17): Show c.359-4725_359-4551del	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
NRXN2_chr11_64601174_64728197	64702065	TGCCGCCC others(168): Show TGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCG TCCGGGAGGTAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGAGGGGTCAGCCCCCCGCCGGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCG	T T	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0208 a0002c0004t0001g0208	1	308	0.0033	-175	c.731 others(17): Show c.731-4448_731-4274del	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar

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Search Results (Total: 10000 hits)