Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KLF5_chr13_73054005_73082538	73069994	GATGGCCT others(181): Show GATGGCCTACATCGTTTCTAGTGAAAGATTAGAAATAATGTCCTACTTTA GTAAAAGTATCTCCGTAGCAGCATTCCTAGTCTGTTAGCCAGTATTATTT ATATTCAAGGATCTCAAACAACAACTCTTATTAAGGATAAGTTACAGTTT TAGAAGTGCACAGTAGGTAACTTTTACCTAAAAATATCT	G G	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0078 a0001c0001t0013g0078	1	438	0.0023	-188	c.119 others(19): Show c.1196-5711_1196-5524del	KLF5	ENSG00000102554.14	transcript	ENST00000377687.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
LATS2_chr13_20968036_21066586	21007553	ATATATAT others(181): Show ATATATATATATATATATATATATATATATATATAGTATATATATATATA GTGTGTATATATATATATAGTGTATATATATATATATATATAGTGTGTGT ATATATATATAGTGTGTATATATATATATAGTATATATATATATATAGTA TGTATATATATATATATATAGTATATATATATAGTATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0011 a0002c0017t0011	a0002c0017t0011g0075 a0002c0017t0011g0075	1	290	0.0034	-188	c.343 others(19): Show c.343-16337_343-16150del	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21007573	ATATATAT others(181): Show ATATATATATATATAGTATATATATATATAGTGTGTATATATATATATAG TGTATATATATATATATATATAGTGTGTGTATATATATATAGTGTGTATA TATATATATAGTATATATATATATATAGTATGTATATATATATATATATA GTATATATATATAGTATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0009 a0003c0008t0009	a0003c0008t0009g0088 a0003c0008t0009g0088	1	269	0.0037	-188	c.343 others(19): Show c.343-16357_343-16170del	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LMF1_chr16_848634_975984	858425	GAGTGGTG others(181): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGACTCGGGACGGGTGTGCAG TGGTGACTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0246 a0001c0023t0001g0246	1	277	0.0036	-188	c.153 others(19): Show c.1530-3907_1530-3720del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	960628	GACAGACT others(181): Show GACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGAC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03579.hp1 HG03209.hp2 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0060 a0004c0027 a0001c0060 a0004c0027	a0001c0060t0002 a0004c0027t0001 a0001c0060t0002 a0004c0027t0001	a0001c0060t0002g0128 a0004c0027t0001g0127 a0001c0060t0002g0128 a0004c0027t0001g0127	2	277	0.0072	-188	c.194 others(17): Show c.194-6150_194-5963del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
MAP3K15_chrX_19355059_19520508	19452198	GAGAAGAG others(181): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAAGAGAAGAGAAGAGAAGAGAAGAGAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp1 HG01891.hp1 others(3): Show HG00642.hp1 HG01192.hp1 HG01891.hp1 HG01952.hp1 HG03139.hp1 NA19068.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0007c0008	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0003t0006 a0007c0008t0019	a0001c0001t0001g0064 a0001c0001t0001g0141 a0001c0001t0004g0015 others(3): Show a0001c0001t0001g0064 a0001c0001t0001g0141 a0001c0001t0004g0015 a0002c0002t0001g0102 a0002c0003t0006g0157 a0007c0008t0019g0162	6	161	0.0373	-188	c.995 others(17): Show c.995+4527_995+4714del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MELTF_chr3_196996740_197034817	197000591	ACCGTGTG others(181): Show ACCGTGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCC ATGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTG TGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGC CAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0077 a0001c0001t0006g0077	1	389	0.0026	-188	c.25 others(11): Show c.2593_*2780del	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		1148		chr3	TogoVar
MLPH_chr2_237482251_237560322	237543528	GGGGACAG others(181): Show GGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTG GGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGGACAGTAGTGA GTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGCACGGTAGTG ACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0101 a0001c0001t0002g0102	2	283	0.0071	-188	c.153 others(18): Show c.1539+873_1539+1060del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544076	TGGGCACG others(181): Show TGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAG TGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0032 a0032	a0032c0046 a0032c0046	a0032c0046t0001 a0032c0046t0001	a0032c0046t0001g0042 a0032c0046t0001g0042	1	231	0.0043	-188	c.153 others(19): Show c.1539+1421_1539+1608del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544959	GGGACAGT others(181): Show GGGACAGTGGTGAGTGGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTG GGGGACCGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGGTGGA GGGGGCACTATTGGTAGGGGGGACAATTATTGGGGGGGGGCACTAATTGT GAGGGGGGACCAGTGTTGAGTGGGGGAATAGTTATGAGT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp2 HG02965.hp1 others(4): Show HG01099.hp2 HG01884.hp2 HG02965.hp1 HG03669.hp1 NA18747.hp2 NA19090.hp1 NA19090.hp2	a0001 a0003 a0007 others(4): Show a0001 a0003 a0007 a0010 a0011 a0024 a0032	a0001c0001 a0003c0003 a0007c0007 others(4): Show a0001c0001 a0003c0003 a0007c0007 a0010c0012 a0011c0016 a0024c0050 a0032c0046	a0001c0001t0004 a0003c0003t0002 a0007c0007t0002 others(4): Show a0001c0001t0004 a0003c0003t0002 a0007c0007t0002 a0010c0012t0003 a0011c0016t0001 a0024c0050t0005 a0032c0046t0001	a0001c0001t0004g0153 a0003c0003t0002g0253 a0007c0007t0002g0035 others(4): Show a0001c0001t0004g0153 a0003c0003t0002g0253 a0007c0007t0002g0035 a0010c0012t0003g0279 a0011c0016t0001g0082 a0024c0050t0005g0117 a0032c0046t0001g0042	7	284	0.0246	-188	c.154 others(19): Show c.1540-1644_1540-1457del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYZAP_chr15_57586904_57690364	57687948	ATATGTGT others(181): Show ATATGTGTGTACAATATACACATATATAATGTGTGTACAATATACACATA TATAAATGTGTGTACAATATACACATATATAAATGTGTGTACAATATACA CATATATAATATGTGTGTACAATATACACATATATATGTGTGTACAATAT ACACATATATATGTGTGTACAATATACACATATATATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01070.hp2 others(11): Show HG00621.hp1 HG00735.hp1 HG01070.hp2 HG01123.hp2 HG01358.hp1 HG01891.hp2 HG01978.hp2 HG02055.hp1 HG02559.hp1 HG03209.hp2 HG03516.hp1 HG03704.hp2 NA19004.hp1 NA19063.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0007t0003 a0005c0011t0002	a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0229 others(11): Show a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0229 a0001c0001t0002g0321 a0001c0003t0001g0227 a0001c0003t0001g0237 a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0135 a0001c0003t0003g0139 a0001c0007t0003g0128 a0005c0011t0002g0117	14	315	0.0444	-188	c.34 others(11): Show c.3451_*3638del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2585		chr15	TogoVar
NGEF_chr2_232873701_233018256	232995362	ACTGTATA others(181): Show ACTGTATATATATACACAGTATGTATACTGTATACTGTATATATATACAC AGTATGTATACTGTATACTGTATATATATACACAGTATGTATACTGACAG TATACATACTGTATATATACACAGTATGTATACTGACAGTATACATACTG TATATATATACAGTATGTATACATATACAGTATGTATAC	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0222 a0001c0003t0010g0222	1	347	0.0029	-188	c.-75 others(19): Show c.-75+17518_-75+17705del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME7_chr1_169127531_169372797	169342724	ATAGTATA others(181): Show ATAGTATATATATATACAAGTACATATATATAGTATATATATATACAAGT ACATATATATATAGTATATATATATACAAGTACATATATATATAGTATAT ATATATACAAGTACATATATATATAGTATATATATATACAAGTACATATA TATAGTATATATACATATATACAAGTACATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	300	0.0033	-188	c.4-1 others(15): Show c.4-18412_4-18225del	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NOL10_chr2_10565754_10694975	10587072	TATATACA others(181): Show TATATACATATATATACATATATATACACATATATATACATATATATACA TATATATACATATATACACATATATATACATATATACACATATATACACA TATATATACACATATATATACACATATATATACACATATATATATACATA TATATACATATATATATACATACATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp1 HG02723.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0005 a0001c0001t0001g0014	2	368	0.0054	-188	c.184 others(19): Show c.1844+1783_1844+1970del	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NTM_chr11_131365615_132341822	131789448	GAAGAAGA others(181): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0052 a0002c0003t0011g0052	1	85	0.0118	-188	c.83- others(19): Show c.83-122083_83-121896del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PARD3B_chr2_204540475_205625162	204648703	CATATAAA others(181): Show CATATAAATAATATATATTTATAATAGATATCATATAAATAATATATATT TATAATAGATATCATATAAATAATATATATTTATAATAGATATCATATAA ATAATATATATTTATAATAGATATCATATAAATAATATATATTTATAATA TATATCATATAAATAATATATATTTATAATATATATCAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19030.hp1 HG02055.hp2 NA19030.hp1	a0002 a0003 a0002 a0003	a0002c0016 a0003c0018 a0002c0016 a0003c0018	a0002c0016t0002 a0003c0018t0002 a0002c0016t0002 a0003c0018t0002	a0002c0016t0002g0037 a0003c0018t0002g0038 a0002c0016t0002g0037 a0003c0018t0002g0038	2	54	0.0370	-188	c.121 others(19): Show c.121-37474_121-37287del	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PEX26_chr22_18072990_18110396	18106755	ATGGTTCC others(181): Show ATGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGT GGTTTCAGTCTGTCTGAAGCCTGAGACCCGGGAGAGCTGAAGACGTAGTT CCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTTC AGTCTGTCTGAAGGCTGAGACCCAGGAGAGCTGATGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02922.hp2 others(6): Show HG01891.hp1 HG02257.hp2 HG02922.hp2 HG02965.hp1 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0001c0001t0027 a0001c0001t0150 others(1): Show a0001c0001t0014 a0001c0001t0027 a0001c0001t0150 a0002c0002t0149	a0001c0001t0014g0043 a0001c0001t0014g0138 a0001c0001t0014g0140 others(3): Show a0001c0001t0014g0043 a0001c0001t0014g0138 a0001c0001t0014g0140 a0001c0001t0027g0028 a0001c0001t0150g0153 a0002c0002t0149g0060	9	251	0.0359	-188	c.18 others(13): Show c.18681_*18868del	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		1360		chr22	TogoVar
PKD1_chr16_2083708_2140898	2127902	CAGGGAGG others(181): Show CAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGG CTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGA GGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGT GGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG02280.hp2 others(12): Show HG01074.hp1 HG01243.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02895.hp2 HG02922.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp2 NA18522.hp1 NA21309.hp2	a0006 a0010 a0011 others(8): Show a0006 a0010 a0011 a0016 a0036 a0037 a0039 a0044 a0048 a0053 a0063	a0006c0018 a0010c0010 a0011c0017 others(8): Show a0006c0018 a0010c0010 a0011c0017 a0016c0019 a0036c0060 a0037c0055 a0039c0053 a0044c0113 a0048c0054 a0053c0112 a0063c0052	a0006c0018t0001 a0010c0010t0002 a0010c0010t0005 others(9): Show a0006c0018t0001 a0010c0010t0002 a0010c0010t0005 a0011c0017t0002 a0016c0019t0002 a0036c0060t0002 a0037c0055t0002 a0039c0053t0002 a0044c0113t0002 a0048c0054t0005 a0053c0112t0002 a0063c0052t0001	a0006c0018t0001g0185 a0010c0010t0002g0193 a0010c0010t0002g0197 others(12): Show a0006c0018t0001g0185 a0010c0010t0002g0193 a0010c0010t0002g0197 a0010c0010t0005g0191 a0011c0017t0002g0189 a0011c0017t0002g0190 a0016c0019t0002g0209 a0016c0019t0002g0210 a0036c0060t0002g0196 a0037c0055t0002g0192 a0039c0053t0002g0187 a0044c0113t0002g0211 a0048c0054t0005g0195 a0053c0112t0002g0212 a0063c0052t0001g0188	15	214	0.0701	-188	c.215 others(17): Show c.215+7385_215+7572del	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	1/45			chr16	TogoVar
PLD5_chr1_242077986_242529697	242393430	GTATATAT others(181): Show GTATATATATGAGTATATATATGTGTATATATATGAGTATATATATGTGT ATATATGAGTATATATATGTGTATATATGAGTATATATATATGTGTATAT ATGTGAGTATATATATGTGTATATATATGAGTATATATGTGTATATATAT GAGTATACATATGTGTATATATATGAGCATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	162	0.0062	-188	c.190 others(19): Show c.190-45376_190-45189del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PMPCA_chr9_136405658_136428761	136420066	ACCTCCCG others(181): Show ACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGG ATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTC TGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCT GGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG01261.hp1 others(13): Show HG01074.hp1 HG01109.hp1 HG01261.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0001 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0121 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0011g0008 a0001c0001t0012g0123	16	388	0.0412	-188	c.126 others(18): Show c.1263+990_1263+1177del	PMPCA	ENSG00000165688.14	transcript	ENST00000371717.8	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
POLG_chr15_89311320_89339824	89325079	AGTGAGAG others(181): Show AGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0008 a0008	a0008c0029 a0008c0029	a0008c0029t0002 a0008c0029t0002	a0008c0029t0002g0195 a0008c0029t0002g0195	1	395	0.0025	-188	c.194 others(17): Show c.1949+183_1949+370del	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP2R2C_chr4_6315581_6477614	6336657	CTCCCTCC others(181): Show CTCCCTCCCTGCTTCCATCCCTCCCTCCCTCCCTGCTTCCATCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCAT CCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp1 HG01884.hp1 others(9): Show HG01109.hp2 HG01255.hp1 HG01884.hp1 HG02572.hp2 HG02970.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0002t0008 others(3): Show a0001c0001t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0043	a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0053 others(9): Show a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0133 a0001c0001t0002g0153 a0001c0001t0002g0194 a0001c0002t0005g0150 a0001c0002t0008g0241 a0001c0002t0010g0136 a0001c0002t0012g0127 a0001c0002t0043g0244	12	248	0.0484	-188	c.791 others(17): Show c.791-3114_791-2927del	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PRDM15_chr21_41793225_41884344	41814501	CGTGTTAG others(181): Show CGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAACGACTTGT GTTAGTGATTGCGCAGCGTGCTCTAGTGTTTTATGAGAATGCCTCGTGTT ACTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTTGTGTTAGT GATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0217 a0001c0004t0003g0217	1	396	0.0025	-188	c.239 others(19): Show c.2392+1016_2392+1203del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3165742	CAGTGACT others(181): Show CAGTGACTCACCTGGGCCCAGGGACAGGGACTCACCAGGGCTCAGGGACA GGGACTCACCAGGGCTCAGGCACAGGGACTCACCTGGGCTCAGGGACAGG GACTCACCAGGGCTCAGGGACAGGGACTCACCAGGGCTCAGGCACAGGGA CTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA21309.hp1 HG01243.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0029 a0001c0001t0001 a0002c0003t0029	a0001c0001t0001g0055 a0002c0003t0029g0106 a0001c0001t0001g0055 a0002c0003t0029g0106	2	208	0.0096	-188	c.38- others(17): Show c.38-20382_38-20195del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121680	AGGGTCAC others(181): Show AGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGCGGT ACTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGG TGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTC GTGGTAGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02056.hp2 NA18968.hp1 others(2): Show HG00621.hp2 HG02056.hp2 NA18968.hp1 NA18997.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0004 a0001c0004t0002 a0001c0002t0001 a0001c0002t0004 a0001c0004t0002	a0001c0002t0001g0143 a0001c0002t0001g0281 a0001c0002t0004g0144 others(2): Show a0001c0002t0001g0143 a0001c0002t0001g0281 a0001c0002t0004g0144 a0001c0004t0002g0036 a0001c0004t0002g0039	5	283	0.0177	-188	c.335 others(19): Show c.335-13580_335-13393del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASA3_chr13_113972783_114137623	113974168	TGCAGGCC others(181): Show TGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGC AGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGG CCGGGGTTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCG GGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0011 a0002c0004t0009g0011	1	62	0.0161	-188	c.49 others(11): Show c.4991_*5178del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding		3614		chr13	TogoVar
RBFOX1_chr16_6014024_7718340	6805531	TAAAATAA others(181): Show TAAAATAAAAGTTAAAAAAATTCTCACTTCAGTTATCACATTGAAAGGAA TACAGATCATCAGACAATGAAGAGCAAATCAAATTATTCCTGGTATCTCT TCGAGGATGTTTACAAGGAGGGAAGTCTGTTAATGAATGCTGAAAACATG TGAAATTATCCTTACCATCTTGTCCATTCTGCATGCCTC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0023 a0001c0002t0038g0023	1	68	0.0147	-188	c.-16 others(21): Show c.-16+150883_-16+151070del	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RHOT1_chr17_32137502_32230727	32179309	TGTGAGGA others(181): Show TGTGAGGAGCGCCTCTGCCTGGCTGCCCCATCTGGGAAGTGGGGAGCGCC TCTACCTGGCTGCCCCATCTGGGAAATGGGAAGCACCTCTGCCCGGCCAC CCCATCTGGGAAGTGAGGAGCGCCTCTGCCCAGCTGACACCCCATCTGGG ATGTGAGGAGCACCTCTGCCCGGCCGCCCCGTCTGGGAA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	282	0.0035	-188	c.329 others(17): Show c.329+3115_330-3242del	RHOT1	ENSG00000126858.19	transcript	ENST00000545287.7	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	287071	TCCCTCTC others(181): Show TCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC ACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCTCCACCGACAGACCTCGCA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG02027.hp1 others(18): Show HG00280.hp1 HG00544.hp2 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02155.hp1 HG02165.hp1 NA18940.hp1 NA18947.hp2 NA18959.hp1 NA18983.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19043.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0034 a0001c0004t0001 a0001c0004t0026 a0001c0008t0001 a0001c0015t0007	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0115 others(18): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0115 a0001c0001t0002g0010 a0001c0001t0002g0029 a0001c0001t0002g0049 a0001c0001t0002g0111 a0001c0001t0003g0034 a0001c0001t0003g0052 a0001c0001t0003g0080 a0001c0001t0008g0113 a0001c0001t0011g0003 a0001c0001t0011g0007 a0001c0001t0011g0056 a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0001t0034g0018 a0001c0004t0001g0086 a0001c0004t0026g0013 a0001c0008t0001g0044 a0001c0015t0007g0026	21	130	0.1615	-188	c.352 others(17): Show c.352-5405_352-5218del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	299990	CAGGGGCT others(181): Show CAGGGGCTGGCCCAGCCTAGGCCTGCAGAATCTCCCACCCACTCTAGAAG GGGCTGGCCCAGCCTAGGCCTGCAGAATCTCTCACCCACTCTAGCAGGGG CTGGCCCAGCCTAGGCCCGCAGAATCTCTCACCCGCTCTAGCAGGGGCTG GCCCAGCCTAGGCCTGCAGAATCTCTCACCCACTCTAGA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01361.hp1 HG01496.hp1 others(14): Show HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01978.hp2 HG02055.hp1 HG02559.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp1 HG03453.hp1 HG03831.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp2 NA19074.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0018 a0001c0003t0028 a0001c0004t0001 a0002c0012t0005	a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0003g0096 others(14): Show a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0003g0096 a0001c0001t0004g0039 a0001c0001t0005g0017 a0001c0001t0010g0015 a0001c0001t0010g0131 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0073 a0001c0002t0003g0090 a0001c0003t0001g0068 a0001c0003t0002g0059 a0001c0003t0018g0019 a0001c0003t0028g0088 a0001c0004t0001g0086 a0002c0012t0005g0020	17	121	0.1405	-188	c.352 others(19): Show c.352-18324_352-18137del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288760	TGTCCCTG others(181): Show TGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCC GTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	279	0.0036	-188	c.166 others(17): Show c.1662+727_1662+914del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288764	CCTGCTCC others(181): Show CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCC CCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0015 a0015	a0015c0032 a0015c0032	a0015c0032t0002 a0015c0032t0002	a0015c0032t0002g0037 a0015c0032t0002g0037	1	129	0.0078	-188	c.166 others(17): Show c.1662+758_1662+945del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288890	TGTCCCTG others(181): Show TGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCC GTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCG AGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0125 a0004c0005t0006g0125	1	281	0.0036	-188	c.166 others(18): Show c.1662+857_1662+1044del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDHA_chr5_213320_262082	259457	AGCTCCGC others(181): Show AGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCTGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG04184.hp2 NA18747.hp1 others(9): Show HG02074.hp2 HG04184.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp2 NA18949.hp1 NA18962.hp2 NA18966.hp1 NA18975.hp1 NA18994.hp1 NA19010.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0083	12	263	0.0456	-188	c.30 others(11): Show c.3038_*3225del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2376		chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368498	ATATATAT others(181): Show ATATATATATATATAAAATATATATATATTATATATATATATAAAATATA TATATATTATATATATATAAAATATGTTATATATATATATAAAATATGTT ATATATATAATATATATGTTATATATATATATAATATATATGTTATATAT ATAAAATATATATATTATATATATATAAAATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03098.hp2 HG02145.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0037 a0001c0001t0027g0038 a0001c0001t0027g0037 a0001c0001t0027g0038	2	225	0.0089	-188	c.427 others(17): Show c.427+5104_427+5291del	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109274841	GTAGATTA others(181): Show GTAGATTACCATAATGTAAAATTGTCCCCACCATATAAAAATGTTCTAGA TAGAGGTAGTGGCTGCACAACATTGTGAATGTAGTAAATGCCATTGAATT GTTCACTTTAAAATGGTTAATTTCCTGTTATATGAATTTTGCATCAATAA AAGAGCTAGTTCTAAGCACCATTTATACTGTAATATTTA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0148 a0001c0001t0012g0148	1	172	0.0058	-188	c.574 others(19): Show c.574-72804_574-72617del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC22A24_chr11_63074940_63149221	63113031	AAAAAATA others(181): Show AAAAAATATATATATATATATATACATATATATATATACATATATATACA CATATATATACATATATATATACATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATACATA TATATATACACATATATATATACATATATATACACATAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02572.hp1 HG02523.hp1 HG02572.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0002 a0001c0001t0001 a0005c0006t0002	a0001c0001t0001g0009 a0005c0006t0002g0085 a0001c0001t0001g0009 a0005c0006t0002g0085	2	344	0.0058	-188	c.830 others(17): Show c.830+5693_830+5880del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63113033	AAAATATA others(181): Show AAAATATATATATATATATATACATATATATATATACATATATATACACA TATATATACATATATATATACATATATATACACATATATATATACATATA TATATACACATATATATATACATATATATATACACATATATATACATATA TATATACACATATATATATACATATATATACACATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02074.hp2 NA18973.hp1 others(2): Show HG02071.hp2 HG02074.hp2 NA18973.hp1 NA19011.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0247 others(2): Show a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0300 a0001c0005t0001g0327	5	331	0.0151	-188	c.830 others(17): Show c.830+5691_830+5878del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63113041	TATATATA others(181): Show TATATATATATATACATATATATATATACATATATATACACATATATATA CATATATATATACATATATATACACATATATATATACATATATATATACA CATATATATATACATATATATATACACATATATATACATATATATATACA CATATATATATACATATATATACACATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03834.hp1 HG04115.hp2 others(4): Show HG00280.hp1 HG03834.hp1 HG04115.hp2 NA18612.hp2 NA18963.hp1 NA18986.hp1 NA19057.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0254 a0001c0005t0001g0011 a0001c0007t0001g0244 others(4): Show a0001c0001t0001g0254 a0001c0005t0001g0011 a0001c0007t0001g0244 a0001c0007t0001g0304 a0002c0002t0001g0005 a0002c0002t0001g0211 a0004c0004t0001g0165	7	364	0.0192	-188	c.830 others(17): Show c.830+5683_830+5870del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SMYD3_chr1_245744347_246512279	246388443	TGGGGACC others(181): Show TGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTT GAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAAT CACCTCGAGGTTGAAGTCAGTTTCTAGGGGACCTCCTTGTAGAAAGCATT CATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	137	0.0073	-188	c.165 others(19): Show c.165-33537_165-33350del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SPPL2B_chr19_2323684_2360095	2347467	TCCGTTCT others(181): Show TCCGTTCTCTCTCCACACACACTCACGCACTCTTATTCGCCTGATTCCGT TCTCTCCCTCCACACACACACTCACGCGCTCTCATTCGCTTGATGCCGTT CTCTCTCCACACACACTCACGCACTCTCATTCGCCTGATTCCGTTCTCTC CCTCCACACACACACTCACGCGCTCTCATTCGCTTGATG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01175.hp1 HG01258.hp2 others(2): Show HG01099.hp1 HG01175.hp1 HG01258.hp2 HG03834.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0002 a0001c0002t0001 a0002c0007t0003 a0001c0001t0002 a0001c0002t0001 a0002c0007t0003	a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0002t0001g0067 others(2): Show a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0002t0001g0067 a0002c0007t0003g0153 a0002c0007t0003g0173	5	410	0.0122	-188	c.135 others(19): Show c.1354+2170_1354+2357del	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
TAS2R5_chr7_141785217_141796367	141791910	CAAGAGAT others(181): Show CAAGAGATCAAGACCAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCGACAGAGCGGGACTCCGTCTCAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(203): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0009	a0001c0001 a0005c0009 a0008c0008 others(1): Show a0001c0001 a0005c0009 a0008c0008 a0009c0007	a0001c0001t0001 a0001c0001t0008 a0005c0009t0005 others(2): Show a0001c0001t0001 a0001c0001t0008 a0005c0009t0005 a0008c0008t0005 a0009c0007t0001	a0001c0001t0001g0000 a0001c0001t0008g0000 a0005c0009t0005g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0008g0000 a0005c0009t0005g0000 a0008c0008t0005g0000 a0009c0007t0001g0000	206	420	0.4905	-188	c.65 others(9): Show c.650_*837del	TAS2R5	ENSG00000127366.5	transcript	ENST00000247883.5	protein_coding		544		chr7	TogoVar
TOLLIP_chr11_1269371_1314632	1294715	CGTGGCTC others(181): Show CGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACGGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTGGC TCACGGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTGGCTCA CGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00621.hp2 others(132): Show HG00323.hp1 HG00438.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18953.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18968.hp2 NA18982.hp1 NA18984.hp1 NA18995.hp1 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19079.hp2 NA19080.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0002 a0001c0016 others(6): Show a0001c0001 a0001c0002 a0001c0016 a0002c0003 a0003c0004 a0004c0017 a0005c0012 a0006c0008 a0009c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0002t0026 a0001c0002t0031 a0001c0016t0002 a0002c0003t0003 a0003c0004t0009 a0004c0017t0003 a0005c0012t0001 a0006c0008t0001 a0009c0015t0002	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 others(116): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0204 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0264 a0001c0001t0002g0028 a0001c0001t0002g0190 a0001c0001t0002g0199 a0001c0001t0002g0205 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0003g0106 a0001c0001t0008g0119 a0001c0001t0015g0191 a0001c0001t0021g0247 a0001c0001t0022g0243 a0001c0002t0001g0016 a0001c0002t0001g0188 a0001c0002t0002g0029 a0001c0002t0002g0094 a0001c0002t0002g0100 a0001c0002t0002g0117 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0124 a0001c0002t0002g0128 a0001c0002t0002g0132 a0001c0002t0002g0168 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0201 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0265 a0001c0002t0003g0023 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0192 a0001c0002t0006g0122 a0001c0002t0006g0125 a0001c0002t0006g0126 a0001c0002t0006g0127 a0001c0002t0007g0114 a0001c0002t0007g0123 a0001c0002t0007g0184 a0001c0002t0007g0185 a0001c0002t0008g0115 a0001c0002t0008g0116 a0001c0002t0008g0118 a0001c0002t0012g0110 a0001c0002t0012g0111 a0001c0002t0013g0095 a0001c0002t0013g0099 a0001c0002t0020g0167 a0001c0002t0026g0130 a0001c0002t0031g0250 a0001c0016t0002g0200 a0002c0003t0003g0010 a0002c0003t0003g0105 a0002c0003t0003g0178 a0003c0004t0009g0034 a0003c0004t0009g0035 a0003c0004t0009g0036 a0004c0017t0003g0089 a0005c0012t0001g0158 a0006c0008t0001g0112 a0009c0015t0002g0096	135	343	0.3936	-188	c.183 others(15): Show c.183+742_183+929del	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TRAPPC9_chr8_139722725_140462744	139872336	ATAGATGC others(181): Show ATAGATGCGTAGGCTGGTGGATGGGTTGATGGGTAAATGGTTGGATAAGT GGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGCTGGTGG ATGGGTTGGTGGGTAGACGGTTGCATAAGTGGATGGACGGATGGGTGGGC TGGTGGATGGGTTGATGGGTAAATGGTTGGATAAGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00733.hp1 others(16): Show HG00140.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01891.hp2 HG02055.hp2 HG02293.hp1 HG02293.hp2 HG02615.hp2 HG02895.hp2 HG02897.hp2 HG03942.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0024 a0001c0025 a0001c0027	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0002t0003 a0001c0002t0017 a0001c0003t0002 a0001c0004t0004 a0001c0005t0008 a0001c0006t0002 a0001c0006t0006 a0001c0024t0016 a0001c0025t0006 a0001c0027t0012	a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 others(16): Show a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0004g0078 a0001c0001t0008g0083 a0001c0002t0003g0041 a0001c0002t0003g0044 a0001c0002t0017g0036 a0001c0003t0002g0043 a0001c0003t0002g0046 a0001c0004t0004g0087 a0001c0005t0008g0065 a0001c0006t0002g0033 a0001c0006t0002g0034 a0001c0006t0006g0031 a0001c0024t0016g0049 a0001c0025t0006g0032 a0001c0027t0012g0012	19	96	0.1979	-188	c.305 others(21): Show c.3055+13355_3055+13542del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TTBK2_chr15_42733730_42925778	42815826	CAGATGTT others(181): Show CAGATGTTCAATCTCTTCCAAATTCTCTCTCTCTATATATATATATTTAA ATATATATATATTTAAAAATATATATATATATTTAAAAATATATATATAT TTAAAAATATATATATATATATTTAAAAAAAAAATATATATATATATATA TATTTGAGACGGAGTCTTGCTCTGTCTCAAATTTGGAAG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02055.hp1 HG02129.hp1 others(25): Show HG00423.hp1 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02486.hp1 HG02622.hp1 HG02809.hp1 HG02965.hp2 HG03139.hp2 HG03209.hp1 HG03540.hp2 HG04115.hp2 HG06807.hp2 NA18939.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18956.hp2 NA18966.hp2 NA18986.hp1 NA18989.hp2 NA19054.hp2 NA19055.hp2 NA19064.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0003c0003 a0003c0011 others(2): Show a0001c0001 a0003c0003 a0003c0011 a0006c0007 a0008c0013	a0001c0001t0015 a0001c0001t0019 a0001c0001t0028 others(10): Show a0001c0001t0015 a0001c0001t0019 a0001c0001t0028 a0001c0001t0036 a0003c0003t0004 a0003c0003t0009 a0003c0003t0010 a0003c0003t0012 a0003c0003t0014 a0003c0003t0025 a0003c0011t0012 a0006c0007t0015 a0008c0013t0010	a0001c0001t0015g0008 a0001c0001t0015g0009 a0001c0001t0019g0017 others(25): Show a0001c0001t0015g0008 a0001c0001t0015g0009 a0001c0001t0019g0017 a0001c0001t0019g0018 a0001c0001t0028g0010 a0001c0001t0036g0029 a0003c0003t0004g0094 a0003c0003t0004g0095 a0003c0003t0004g0097 a0003c0003t0004g0098 a0003c0003t0004g0101 a0003c0003t0004g0102 a0003c0003t0004g0103 a0003c0003t0004g0104 a0003c0003t0004g0105 a0003c0003t0009g0002 a0003c0003t0009g0003 a0003c0003t0009g0004 a0003c0003t0009g0006 a0003c0003t0010g0099 a0003c0003t0010g0107 a0003c0003t0012g0171 a0003c0003t0012g0173 a0003c0003t0014g0019 a0003c0003t0025g0021 a0003c0011t0012g0172 a0006c0007t0015g0014 a0008c0013t0010g0067	28	246	0.1138	-188	c.603 others(17): Show c.603+1018_603+1205del	TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	7/14			chr15	TogoVar
TUBA8_chr22_18105809_18136732	18106755	ATGGTTCC others(181): Show ATGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGT GGTTTCAGTCTGTCTGAAGCCTGAGACCCGGGAGAGCTGAAGACGTAGTT CCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTTC AGTCTGTCTGAAGGCTGAGACCCAGGAGAGCTGATGGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02922.hp1 others(6): Show HG01891.hp1 HG02257.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03540.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0006 a0001c0001 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0002c0006t0002 a0002c0006t0006	a0001c0001t0001g0320 a0001c0001t0002g0324 a0001c0004t0001g0307 others(6): Show a0001c0001t0001g0320 a0001c0001t0002g0324 a0001c0004t0001g0307 a0001c0004t0001g0310 a0001c0004t0002g0308 a0002c0006t0002g0123 a0002c0006t0002g0179 a0002c0006t0002g0217 a0002c0006t0006g0212	9	270	0.0333	-188	c.-41 others(11): Show c.-4110_-3923del	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		4053		chr22	TogoVar
VWA3B_chr2_98082167_98318299	98276569	GTGGGCTG others(181): Show GTGGGCTGCCCATGTGTGTCCAGAGGGCTGTGGCCACTGCGTTTGGAGTG GGCTGCCCACGTGTGTCCAGAGGGCTGTGGCCATTGCGTTTGGAATGGGC TGCCCATGTGTGTCCAGAGGGCTGTGGCCACTGCGTTTGGAGTGGGCTGC CCATGTGTGTCCAGAGGGCTGTGGCCATTGCATTTGGAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG03195.hp2 others(1): Show HG01891.hp1 HG02572.hp2 HG03195.hp2 HG03471.hp1	a0005 a0008 a0019 a0005 a0008 a0019	a0005c0007 a0008c0010 a0019c0014 a0005c0007 a0008c0010 a0019c0014	a0005c0007t0009 a0008c0010t0009 a0019c0014t0017 a0005c0007t0009 a0008c0010t0009 a0019c0014t0017	a0005c0007t0009g0081 a0008c0010t0009g0239 a0008c0010t0009g0240 others(1): Show a0005c0007t0009g0081 a0008c0010t0009g0239 a0008c0010t0009g0240 a0019c0014t0017g0122	4	238	0.0168	-188	c.304 others(19): Show c.3045+5726_3045+5913del	VWA3B	ENSG00000168658.20	transcript	ENST00000477737.6	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZIM3_chr19_57129096_57150202	57137896	AAGGAAAG others(181): Show AAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAAGGAAGGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00673.hp2 others(39): Show HG00323.hp2 HG00597.hp1 HG00673.hp2 HG01257.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02300.hp2 HG03017.hp1 HG03139.hp1 HG03669.hp2 HG04199.hp2 NA18747.hp2 NA18939.hp1 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18999.hp2 NA19002.hp1 NA19007.hp2 NA19011.hp2 NA19055.hp2 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2	a0005 a0008 a0017 a0005 a0008 a0017	a0005c0005 a0008c0012 a0017c0018 a0005c0005 a0008c0012 a0017c0018	a0005c0005t0001 a0005c0005t0002 a0005c0005t0010 others(4): Show a0005c0005t0001 a0005c0005t0002 a0005c0005t0010 a0005c0005t0022 a0005c0005t0023 a0008c0012t0001 a0017c0018t0001	a0005c0005t0001g0004 a0005c0005t0001g0016 a0005c0005t0001g0029 others(16): Show a0005c0005t0001g0004 a0005c0005t0001g0016 a0005c0005t0001g0029 a0005c0005t0001g0158 a0005c0005t0001g0184 a0005c0005t0001g0185 a0005c0005t0001g0186 a0005c0005t0001g0188 a0005c0005t0001g0191 a0005c0005t0001g0195 a0005c0005t0002g0054 a0005c0005t0010g0047 a0005c0005t0010g0187 a0005c0005t0022g0192 a0005c0005t0023g0180 a0008c0012t0001g0177 a0008c0012t0001g0189 a0008c0012t0001g0190 a0017c0018t0001g0182	42	416	0.1010	-188	c.142 others(15): Show c.142+388_142+575del	ZIM3	ENSG00000141946.1	transcript	ENST00000269834.1	protein_coding	3/4			chr19	TogoVar
ADGRD1_chr12_130948907_131146469	131037641	GGGGCCTC others(180): Show GGGGCCTCACTCACTGCACCGGGTCTCACTCACTGCACTGGGTCTTACTC ATTGCACTGGGTCTCACTCACTACACCAGGTCTCAGTCACTGCACTGGGT CTCACTCACTGCACCAGGATCTTACTGCATGGGGCCGCACTCACTGCACC GGGTCTCACTCACTGCACCAGGATCTTACTCACTGCAT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01069.hp2 others(24): Show HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01258.hp1 HG01515.hp1 HG01943.hp2 HG01981.hp2 HG02109.hp1 HG02257.hp2 HG02293.hp1 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp2 HG03710.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0019 a0001c0020 a0002c0012 a0002c0031 a0003c0018 a0003c0044 a0005c0011 a0005c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 a0001c0003t0018 a0001c0004t0002 a0001c0005t0003 a0001c0007t0004 a0001c0019t0004 a0001c0020t0002 a0002c0012t0017 a0002c0031t0003 a0003c0018t0020 a0003c0044t0007 a0005c0011t0002 a0005c0021t0021	a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0208 others(24): Show a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0208 a0001c0001t0002g0099 a0001c0001t0002g0107 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0015g0097 a0001c0001t0016g0183 a0001c0003t0001g0153 a0001c0003t0006g0019 a0001c0003t0013g0129 a0001c0003t0013g0224 a0001c0003t0013g0225 a0001c0003t0018g0232 a0001c0004t0002g0165 a0001c0005t0003g0056 a0001c0007t0004g0102 a0001c0019t0004g0230 a0001c0020t0002g0181 a0002c0012t0017g0159 a0002c0031t0003g0089 a0003c0018t0020g0123 a0003c0018t0020g0124 a0003c0044t0007g0126 a0005c0011t0002g0110 a0005c0021t0021g0048	27	240	0.1125	-187	c.147 others(21): Show c.1473+23305_1473+23491del	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANKRD30B_chr18_14743172_14859667	14857095	CTCCCAAA others(180): Show CTCCCAAACGGGGCGGCTGGGCAGAGGTGCTCCTCACCTCCCAGGGGGGG CAGCCAGGCAGAGGGGCTCCTCACCTCCCAGACAATGGGCAGCCAGGCAG AGGTGCTCCTCATTTCCCAGACGGGGTGGCCAGGCAGAGGCACTCCTCAC CTCCCAGACATCACGGCCAGGCAGAGGTGCTCCCCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02129.hp2 HG02040.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0179 a0002c0002t0001g0180	2	314	0.0064	-187	c.29 others(11): Show c.2938_*3124del	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		2429		chr18	TogoVar

Search by Variant

Search

Search Results