Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
FAM53A_chr4_1634887_1689313	1640868	CTCTGTGC others(55): Show CTCTGTGCCCTGGGGCAGGTGCAGGCAGCAGCCATGGCCCCGACCAGCTC ACAGGAAACCTAG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG06807.hp1 HG02630.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0047 a0001c0001t0046 a0001c0001t0047	a0001c0001t0046g0129 a0001c0001t0047g0318 a0001c0001t0046g0129 a0001c0001t0047g0318	2	350	0.0057	-62	c.36 others(71): Show c.363_*424delCTAGGTTTCCTGTGAGCTGGTCGGGGCCATGGCTGC TGCCTGCACCTGCCCCAGGGCACAGA	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	5/5	363		chr4	TogoVar
FAM53A_chr4_1634887_1689313	1640954	CGGCAGCC others(55): Show CGGCAGCCGTGGCCCCGACCAGCTCACAGGAAACCTACTCTGTGCCCCAG GGCAGGTGCCGGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0117 a0001c0001t0043g0117	1	350	0.0029	-62	c.27 others(71): Show c.277_*338delACCGGCACCTGCCCTGGGGCACAGAGTAGGTTTCCT GTGAGCTGGTCGGGGCCACGGCTGCC	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	5/5	277		chr4	TogoVar
FAM53A_chr4_1634887_1689313	1649962	TTGACTGT others(55): Show TTGACTGTGAGGTGGCACAGGCGTGGCGTTTGACTGTGAGGTGGCACAGG CGTGGCGTTTGAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG06807.hp1 HG02630.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0047 a0001c0001t0046 a0001c0001t0047	a0001c0001t0046g0129 a0001c0001t0047g0318 a0001c0001t0046g0129 a0001c0001t0047g0318	2	350	0.0057	-62	c.882 others(79): Show c.882+4954_882+5015delGTCAAACGCCACGCCTGTGCCACCTCAC AGTCAAACGCCACGCCTGTGCCACCTCACAGTCA	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	4/4			chr4	TogoVar
FARP2_chr2_241351285_241499841	241482969	TTGGTGCT others(55): Show TTGGTGCTAATTTGAATACTCGGGAGAACCCTCCTTTCCTCCTCCCATTC TCGAACCTGCTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00639.hp2 others(24): Show HG00423.hp2 HG00544.hp2 HG00639.hp2 HG01167.hp2 HG01358.hp1 HG01516.hp1 HG01928.hp2 HG01975.hp1 HG02027.hp2 HG02080.hp1 HG02135.hp2 HG02293.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp2 NA18612.hp2 NA18952.hp1 NA18971.hp2 NA18982.hp1 NA19000.hp1 NA19010.hp1 NA19012.hp1 NA19070.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0032 a0001c0001 a0001c0032	a0001c0001t0001 a0001c0032t0001 a0001c0001t0001 a0001c0032t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(24): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0368 a0001c0001t0001g0377 a0001c0032t0001g0227	27	378	0.0714	-62	c.226 others(79): Show c.2263-476_2263-415delCGGGAGAACCCTCCTTTCCTCCTCCCAT TCTCGAACCTGCTCCTGGTGCTAATTTGAATACT	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FARP2_chr2_241351285_241499841	241482989	CGGGAGAA others(55): Show CGGGAGAACCCTCCTTTCCTCCTCCCATTCTCGAACCTGCTCCTGGTGCT AATTTGAATACTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02897.hp1 HG02976.hp2 HG02257.hp2 HG02897.hp1 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0175 a0001c0004t0001g0359 a0001c0004t0001g0370 a0001c0004t0001g0175 a0001c0004t0001g0359 a0001c0004t0001g0370	3	378	0.0079	-62	c.226 others(79): Show c.2263-475_2263-414delGGGAGAACCCTCCTTTCCTCCTCCCATT CTCGAACCTGCTCCTGGTGCTAATTTGAATACTT	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	19/26			chr2	TogoVar
FAT1_chr4_186582794_186728856	186627306	GACAGAAT others(55): Show GACAGAATGAATGAATGAGTGACCAACATGGCACCTGACACATAAAACGA GCTTCATCAGCCC	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0229 a0004c0004t0002g0229	1	338	0.0030	-62	c.481 others(79): Show c.4810+786_4810+847delGGGCTGATGAAGCTCGTTTTATGTGTCA GGTGCCATGTTGGTCACTCATTCATTCATTCTGT	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	9/26			chr4	TogoVar
FBXO34_chr14_55266421_55358611	55331683	ATGTGTAT others(55): Show ATGTGTATATATATATATATATGTATATATATATGTATATATATATGTAT ATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18954.hp1 NA18942.hp1 NA18954.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0056 a0003c0003t0002g0103 a0003c0003t0002g0056 a0003c0003t0002g0103	2	334	0.0060	-62	c.-10 others(81): Show c.-10-18696_-10-18635delGTGTATATATATATATATATGTATAT ATATATGTATATATATATGTATATATATATGTGTGT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO8_chr4_174231658_174288667	174265236	ATAAAAGC others(55): Show ATAAAAGCTTTTTATTTAGGTATTTACCTAATTAAAAGCTTTTTATTTAG GTATTTACCTAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(117): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp2 NA18947.hp2 NA18954.hp2 NA18957.hp2 NA18962.hp1 NA18966.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18987.hp1 NA18989.hp2 NA19000.hp2 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19066.hp2 NA19070.hp2 NA19084.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(67): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0206 a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0052 a0001c0001t0002g0105 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0004g0009 a0001c0001t0004g0028 a0001c0001t0004g0064 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0073 a0001c0001t0006g0027 a0001c0001t0007g0095 a0001c0001t0008g0168 a0001c0001t0009g0103 a0001c0004t0001g0086	120	376	0.3192	-62	c.-8- others(77): Show c.-8-2198_-8-2137delATTAGGTAAATACCTAAATAAAAAGCTTTT AATTAGGTAAATACCTAAATAAAAAGCTTTTA	FBXO8	ENSG00000164117.14	transcript	ENST00000393674.7	protein_coding	1/5			chr4	TogoVar
FER1L5_chr2_96637764_96709883	96659449	CTTTCTTT others(55): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCGA	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0049 a0002c0006t0001g0049	1	226	0.0044	-62	c.748 others(77): Show c.748-891_748-830delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCGA	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52			chr2	TogoVar
FGD4_chr12_32394558_32651050	32466714	AAAAATCA others(55): Show AAAAATCAGCCAGGCGTGGTGGCGCATGCTTGTAATCCCAGATACTCGGG AGGCTGAAACAGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0143 a0001c0003t0002g0143	1	232	0.0043	-62	c.166 others(81): Show c.166+66763_166+66824delGCCAGGCGTGGTGGCGCATGCTTGTA ATCCCAGATACTCGGGAGGCTGAAACAGGAAAATCA	FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
FGF14_chr13_101705804_101921945	101850477	TATATATA others(55): Show TATATATATATATATATATATATATATATATATATATAGAATTATATATT CTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04204.hp2 HG02698.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0116 a0001c0001t0002 a0001c0001t0116	a0001c0001t0002g0096 a0001c0001t0116g0246 a0001c0001t0002g0096 a0001c0001t0116g0246	2	266	0.0075	-62	c.408 others(81): Show c.408+18186_408+18247delTATATATATATAGAATATATAATTCT ATATATATATATATATATATATATATATATATATAT	FGF14	ENSG00000102466.17	transcript	ENST00000376143.5	protein_coding	3/4			chr13	TogoVar
FGF9_chr13_21666073_21709498	21709153	AAAGGTTA others(55): Show AAAGGTTATTTTTGTAGTCATGAATCATATTTGATGCCTTTTTAAAACAA CAACAACAACAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0123 a0001c0001t0005g0123	1	362	0.0028	-62	c.77 others(73): Show c.7719_*7780delAAGGTTATTTTTGTAGTCATGAATCATATTTGAT GCCTTTTTAAAACAACAACAACAACAAC	FGF9	ENSG00000102678.7	transcript	ENST00000382353.6	protein_coding		4656		chr13	TogoVar
FHIT_chr3_59742277_61256452	60860526	TATATATC others(55): Show TATATATCAGGTATATATGATACATATGTATCATATATCAGGTATATATG ATACATATGTATC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0004 a0001c0001t0011g0004	1	46	0.0217	-62	c.-11 others(83): Show c.-110-38577_-110-38516delGATACATATGTATCATATATACCT GATATATGATACATATGTATCATATATACCTGATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FKBP14_chr7_30005587_30031702	30011535	CATATATA others(55): Show CATATATATATATACTATATATATATATACCATATATATGGTATATATAT ATATATAGTATAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 NA19240.hp2 HG03098.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0067 a0001c0001t0021g0068 a0001c0001t0021g0067 a0001c0001t0021g0068	2	326	0.0061	-62	c.31 others(73): Show c.3138_*3199delATATACTATATATATATATATACCATATATATGG TATATATATATATAGTATATATATATAT	FKBP14	ENSG00000106080.11	transcript	ENST00000222803.10	protein_coding	4/4	3138		chr7	TogoVar
FMN2_chr1_240086883_240480187	240406030	GCAGCGTC others(55): Show GCAGCGTCAGGAGTCGGGGAAGCGAAGGGAATCAGCCTCAGGAGTGGGGG GAGCGAAGGGAAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02258.hp2 others(8): Show HG01884.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG02896.hp1 HG02922.hp2 HG03225.hp2 HG03471.hp1 NA19043.hp2 NA20129.hp2	a0002 a0003 a0004 others(7): Show a0002 a0003 a0004 a0010 a0013 a0018 a0019 a0022 a0026 a0084	a0002c0101 a0003c0010 a0004c0114 others(8): Show a0002c0101 a0003c0010 a0004c0114 a0010c0003 a0013c0081 a0018c0095 a0018c0131 a0019c0022 a0022c0093 a0026c0043 a0084c0054	a0002c0101t0006 a0003c0010t0003 a0004c0114t0006 others(8): Show a0002c0101t0006 a0003c0010t0003 a0004c0114t0006 a0010c0003t0006 a0013c0081t0002 a0018c0095t0008 a0018c0131t0005 a0019c0022t0006 a0022c0093t0006 a0026c0043t0003 a0084c0054t0003	a0002c0101t0006g0130 a0003c0010t0003g0073 a0004c0114t0006g0108 others(8): Show a0002c0101t0006g0130 a0003c0010t0003g0073 a0004c0114t0006g0108 a0010c0003t0006g0154 a0013c0081t0002g0099 a0018c0095t0008g0167 a0018c0131t0005g0146 a0019c0022t0006g0135 a0022c0093t0006g0138 a0026c0043t0003g0014 a0084c0054t0003g0027	11	174	0.0632	-62	c.491 others(83): Show c.4910+13473_4910+13534delGTCAGGAGTCGGGGAAGCGAAGGG AATCAGCCTCAGGAGTGGGGGGAGCGAAGGGAATCAGC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240406111	AAGCGAAG others(55): Show AAGCGAAGGGAATCAGCCTCGGGAGTGGGGGGAGCGAAGGGAATCAGCCT CGGGAGTGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02258.hp2 others(7): Show HG01884.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG02922.hp2 HG03225.hp2 HG03471.hp1 NA19043.hp2 NA20129.hp2	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0010 a0013 a0018 a0019 a0022 a0084	a0002c0101 a0003c0010 a0004c0114 others(7): Show a0002c0101 a0003c0010 a0004c0114 a0010c0003 a0013c0081 a0018c0095 a0018c0131 a0019c0022 a0022c0093 a0084c0054	a0002c0101t0006 a0003c0010t0003 a0004c0114t0006 others(7): Show a0002c0101t0006 a0003c0010t0003 a0004c0114t0006 a0010c0003t0006 a0013c0081t0002 a0018c0095t0008 a0018c0131t0005 a0019c0022t0006 a0022c0093t0006 a0084c0054t0003	a0002c0101t0006g0130 a0003c0010t0003g0073 a0004c0114t0006g0108 others(7): Show a0002c0101t0006g0130 a0003c0010t0003g0073 a0004c0114t0006g0108 a0010c0003t0006g0154 a0013c0081t0002g0099 a0018c0095t0008g0167 a0018c0131t0005g0146 a0019c0022t0006g0135 a0022c0093t0006g0138 a0084c0054t0003g0027	10	174	0.0575	-62	c.491 others(83): Show c.4910+13561_4910+13622delTCAGCCTCGGGAGTGGGGGGAGCG AAGGGAATCAGCCTCGGGAGTGGGGGGAGCGAAGGGAA	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240406173	GAGCGAAG others(55): Show GAGCGAAGGGAAGCAGCCTCGGGAGTCGGGGGAGCGAAGGGAAGCAGCCT CGGGAGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0002 a0002c0015t0002	a0002c0015t0002g0054 a0002c0015t0002g0054	1	174	0.0058	-62	c.491 others(83): Show c.4910+13673_4910+13734delAAGCGAAGGGAAGCAGCCTCGGGA GTCGGGGGAGCGAAGGGAAGCAGCCTCGGGAGTGGGGG	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240406261	CGGGGGAG others(55): Show CGGGGGAGCGAAGGGAAGCAGCCTCGGGAGTGGGGGGAGCGAAGGGAAGC AGCCTCGGGAGTG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0002 a0017c0016t0002	a0017c0016t0002g0085 a0017c0016t0002g0085	1	174	0.0058	-62	c.491 others(83): Show c.4910+13766_4910+13827delGAGCGAAGGGAAGCAGCCTCGGGA GTGGGGGGAGCGAAGGGAAGCAGCCTCGGGAGTGGGGG	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FOLR1_chr11_72187140_72201299	72201237	CACGTATA others(55): Show CACGTATACGTATGTACACGTATACACGTATACGTATGTACACGTATACA CGTATACGTATGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	412	0.0024	-62	c.50 others(73): Show c.5061_*5122delACGTATACGTATGTACACGTATACACGTATACGT ATGTACACGTATACACGTATACGTATGT	FOLR1	ENSG00000110195.14	transcript	ENST00000393676.5	protein_coding		4939		chr11	TogoVar
FRG2C_chr3_75659328_75672173	75671890	AGAGAGAG others(55): Show AGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGGG ACGGGGAAACTGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0016 a0009c0008t0016	a0009c0008t0016g0017 a0009c0008t0016g0017	1	410	0.0024	-62	c.58 others(73): Show c.5850_*5911delGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGA GAGAGACAGAGAGGGACGGGGAAACTGC	FRG2C	ENSG00000172969.8	transcript	ENST00000308062.8	protein_coding		4718		chr3	TogoVar
FRK_chr6_115926149_116065891	115958704	GAAGAAAG others(55): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG04115.hp2 HG03098.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0170 a0001c0001t0001g0107 a0001c0001t0001g0170	2	274	0.0073	-62	c.800 others(79): Show c.800-2156_800-2095delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	4/7			chr6	TogoVar
FSHR_chr2_48957157_49159515	49127833	TTCTTCTT others(55): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18939.hp1 NA18988.hp1 others(2): Show HG04204.hp1 NA18939.hp1 NA18988.hp1 NA18988.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0300 a0001c0001t0001g0337 a0002c0002t0001g0301 others(2): Show a0001c0001t0001g0300 a0001c0001t0001g0337 a0002c0002t0001g0301 a0002c0002t0001g0329 a0002c0002t0001g0330	5	350	0.0143	-62	c.152 others(81): Show c.152+26371_152+26432delGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9			chr2	TogoVar
FUT8_chr14_65407730_65749121	65559536	ATAGCTTA others(55): Show ATAGCTTAGAATTAACTAGGATATAGTACAGTTTCAGCATATAAGTATAG TAACATTTTACAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02717.hp1 others(3): Show HG01884.hp1 HG02572.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0088 a0001c0001t0008g0210 a0001c0001t0008g0284 others(3): Show a0001c0001t0008g0088 a0001c0001t0008g0210 a0001c0001t0008g0284 a0001c0001t0008g0285 a0001c0001t0008g0286 a0001c0001t0008g0287	6	374	0.0160	-62	c.-22 others(81): Show c.-227-1799_-227-1738delAGCTTAGAATTAACTAGGATATAGTA CAGTTTCAGCATATAAGTATAGTAACATTTTACAGT	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611184	TACACACA others(55): Show TACACACACACACACGCGCGCGCGCGCGCGCGCGCGCGCGCACACACACA CACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00735.hp2 others(6): Show HG00099.hp1 HG00597.hp1 HG00735.hp2 HG01934.hp1 HG02055.hp1 HG02135.hp1 HG03942.hp2 NA18944.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0005 a0001c0006t0002 a0001c0001t0002 a0001c0001t0005 a0001c0006t0002	a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0034 others(6): Show a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0005g0069 a0001c0006t0002g0038	9	374	0.0241	-62	c.204 others(79): Show c.204-4779_204-4718delGCGCGCGCGCGCGCGCGCGCGCGCGCAC ACACACACACACACACACACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611207	GCGCGCGC others(55): Show GCGCGCGCGCGCGCGCGCACACACACACACACACACACACACACACACAC ACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	374	0.0027	-62	c.204 others(79): Show c.204-4769_204-4708delGCGCGCGCGCGCGCGCACACACACACAC ACACACACACACACACACACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611209	GCGCGCGC others(55): Show GCGCGCGCGCGCGCGCACACACACACACACACACACACACACACACACAC ACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18961.hp2 NA18963.hp1 others(6): Show NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18983.hp2 NA18989.hp1 NA19012.hp1 NA19075.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0003c0005t0001 a0001c0001t0001 a0001c0001t0004 a0003c0005t0001	a0001c0001t0001g0173 a0001c0001t0004g0019 a0003c0005t0001g0169 others(6): Show a0001c0001t0001g0173 a0001c0001t0004g0019 a0003c0005t0001g0169 a0003c0005t0001g0172 a0003c0005t0001g0182 a0003c0005t0001g0185 a0003c0005t0001g0186 a0003c0005t0001g0191 a0003c0005t0001g0198	9	374	0.0241	-62	c.204 others(79): Show c.204-4767_204-4706delGCGCGCGCGCGCGCACACACACACACAC ACACACACACACACACACACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611211	GCGCGCGC others(55): Show GCGCGCGCGCGCGCACACACACACACACACACACACACACACACACACAC ACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp2 HG06807.hp1 others(2): Show HG01884.hp1 HG02818.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0160 a0001c0001t0006g0158 a0001c0001t0006g0161 others(2): Show a0001c0001t0002g0160 a0001c0001t0006g0158 a0001c0001t0006g0161 a0001c0001t0008g0088 a0001c0001t0008g0284	5	374	0.0134	-62	c.204 others(79): Show c.204-4765_204-4704delGCGCGCGCGCGCACACACACACACACAC ACACACACACACACACACACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
GABRA5_chr15_26862062_26954208	26896925	TATGTAGA others(55): Show TATGTAGAGAAAAAAATCTCTACATCTTACAGATGTAGAGAAAAAAATCT CTACATCTTAGAG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19240.hp2 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0045 a0001c0003t0001g0090 a0001c0001t0001g0045 a0001c0003t0001g0090	2	376	0.0053	-62	c.497 others(81): Show c.497+13397_497+13458delCAGATGTAGAGAAAAAAATCTCTACA TCTTAGAGATGTAGAGAAAAAAATCTCTACATCTTA	GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241806159	CCCCCCTC others(55): Show CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG01255.hp2 HG00741.hp2 HG01109.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0002g0030 a0001c0001t0002g0076 a0001c0001t0001g0027 a0001c0001t0002g0030 a0001c0001t0002g0076	3	314	0.0096	-62	c.19 others(73): Show c.1994_*2055delCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1873		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241808018	CCCCCCTC others(55): Show CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTAGCCCAG GGACCTCGGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01169.hp2 HG02683.hp1 others(5): Show HG00733.hp1 HG01169.hp2 HG02683.hp1 HG03041.hp1 HG03239.hp2 HG03688.hp1 NA18906.hp1 NA18969.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0166 a0002c0002t0001g0016 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0166 a0002c0002t0001g0016 a0002c0002t0001g0041 a0002c0002t0002g0054 a0002c0002t0002g0110 a0002c0002t0002g0127 a0004c0004t0001g0119	8	314	0.0255	-62	c.38 others(73): Show c.3853_*3914delCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCT CCCCTCTTAGCCCAGGGACCTCGGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3732		chr2	TogoVar
GAS6_chr13_113815549_113869076	113834022	GGTGTGAC others(55): Show GGTGTGACAGGTAGGTCATGCTGTGATAGGCCCCGGTGTGACAGGTCGGT GTGACAGGCACCA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0129 a0005c0012t0001g0129	1	143	0.0070	-62	c.834 others(77): Show c.834+467_834+528delTGGTGCCTGTCACACCGACCTGTCACACCG GGGCCTATCACAGCATGACCTACCTGTCACAC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	8/14			chr13	TogoVar
GHR_chr5_42418439_42726878	42534184	ATATATGT others(55): Show ATATATGTACATGTGTATATATGTATATATGTATATATGTACATGTGTAT ATGTGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	210	0.0048	-62	c.-11 others(81): Show c.-11-31674_-11-31613delGTACATGTGTATATATGTATATATGT ATATATGTACATGTGTATATGTGTATATATGTATAT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GIGYF2_chr2_232692331_232865605	232836321	TATATATA others(55): Show TATATATATACATATATATACTTATATATTTATATATATAAATATAAATA TATATAAATATAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0225 a0001c0005t0001g0225	1	376	0.0027	-62	c.276 others(81): Show c.2766+3238_2766+3299delCATATATATACTTATATATTTATATA TATAAATATAAATATATATAAATATAAATATATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GJB3_chr1_34776214_34791364	34777607	CCACAACC others(55): Show CCACAACCACATATGCACACAGCCTCCCACACCACCCCAGCCATCTCCAT CATCACACACATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01358.hp1 others(50): Show HG00408.hp2 HG00423.hp2 HG01358.hp1 HG01515.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG04115.hp2 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18960.hp1 NA18969.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0011t0002 a0001c0001t0001 a0001c0001t0002 a0001c0011t0002	a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0011t0002g0004	53	444	0.1194	-62	c.-41 others(73): Show c.-4196_-4135delCACAACCACATATGCACACAGCCTCCCACACCAC CCCAGCCATCTCCATCATCACACACATT	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3606		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777618	TATGCACA others(55): Show TATGCACACAGCCTCCCACACCACCCCAGCCATCTCCATCATCACACACA TTCACAACCACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02809.hp2 others(2): Show HG01243.hp1 HG02559.hp2 HG02809.hp2 HG03225.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0007 a0001c0001t0002 a0002c0004t0007	a0001c0001t0002g0003 a0002c0004t0007g0007 a0001c0001t0002g0003 a0002c0004t0007g0007	5	444	0.0113	-62	c.-41 others(73): Show c.-4185_-4124delATGCACACAGCCTCCCACACCACCCCAGCCATCT CCATCATCACACACATTCACAACCACAC	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3595		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777650	TCTCCATC others(55): Show TCTCCATCATCACACACATTCACAACCACACATGCACACAGCCTCCCACA CCACCCCAGCCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	444	0.0023	-62	c.-41 others(73): Show c.-4153_-4092delCTCCATCATCACACACATTCACAACCACACATGC ACACAGCCTCCCACACCACCCCAGCCAC	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3563		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777656	TCATCACA others(55): Show TCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCC CAGCCACCTCCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	-62	c.-41 others(73): Show c.-4147_-4086delCATCACACACATTCACAACCACACATGCACACAG CCTCCCACACCACCCCAGCCACCTCCAC	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3557		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777729	ATTCACAA others(55): Show ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCC GCCATCACACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01071.hp2 others(4): Show HG00140.hp1 HG01070.hp1 HG01071.hp2 HG03239.hp1 NA18953.hp2 NA18966.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0016g0018 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0016g0018	7	444	0.0158	-62	c.-40 others(73): Show c.-4074_-4013delTTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCATCTCCGCCATCACACACG	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3484		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777774	TCTCCGCC others(55): Show TCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCACA CCACCCCAGCCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA18948.hp2 NA18955.hp1 others(3): Show HG00597.hp1 NA18948.hp2 NA18955.hp1 NA18959.hp2 NA18963.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0004 a0001c0002t0002g0003 a0001c0001t0002g0004 a0001c0002t0002g0003	6	444	0.0135	-62	c.-40 others(73): Show c.-4029_-3968delCTCCGCCATCACACACGTTCACAACCACACATGC ACACAGCCTCCCACACCACCCCAGCCAC	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3439		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777840	CGCCATCA others(55): Show CGCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCATCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG02132.hp2 NA18747.hp2 others(3): Show HG01943.hp1 HG02132.hp2 NA18747.hp2 NA18939.hp1 NA18950.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0002t0002g0003 a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0002t0002g0003	6	444	0.0135	-62	c.-39 others(73): Show c.-3963_-3902delGCCATCACACACGTTCACAACCACACATGCACAC AGCCTCCCACACCACCCCAGCCATCTCT	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3373		chr1	TogoVar
GMDS_chr6_1618806_2250605	1897946	TCCTGGCC others(55): Show TCCTGGCCACCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCAT CCTGGACACCTAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03225.hp2 HG03139.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0002t0001g0117 a0001c0001t0001g0006 a0001c0002t0001g0117	2	166	0.0121	-62	c.771 others(81): Show c.771+32095_771+32156delGTAGGTGTCCAGGATGGCAAGGGAGG CCAGGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1898039	CCCTGGCC others(55): Show CCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCAT CCTGGACACCTAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	166	0.0060	-62	c.771 others(81): Show c.771+32002_771+32063delATAGGTGTCCAGGATGGCAAGGGAGG CCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GNG12_chr1_67696475_67838467	67710002	ATATATAT others(55): Show ATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTT ATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0189 a0001c0001t0007g0189	1	274	0.0037	-62	c.-26 others(79): Show c.-26-2352_-26-2291delACTATATATATATAACTATATATATAAC TATATATATATAACTATATATATAACTATATATA	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GPC5_chr13_91393621_92872237	92385381	CATATATA others(55): Show CATATATATACATATATACACATATATACACATATATATACATATATACA TATATACATATAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03579.hp1 HG06807.hp1 others(1): Show HG03041.hp1 HG03579.hp1 HG06807.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0021 a0001c0001t0002g0042 a0002c0002t0002g0015 others(1): Show a0001c0001t0001g0021 a0001c0001t0002g0042 a0002c0002t0002g0015 a0003c0003t0001g0001	4	42	0.0952	-62	c.156 others(85): Show c.1561+240394_1561+240455delTATATATACATATATACACATA TATACACATATATATACATATATACATATATACATATATA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR87_chr3_151289086_151321820	151293556	GGGTCCTA others(55): Show GGGTCCTAAAATGAAGCCCTTACACACACACACACACACACACACACACA CACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01106.hp1 HG02055.hp1 others(5): Show HG01069.hp1 HG01106.hp1 HG02055.hp1 HG06807.hp2 NA18956.hp1 NA19000.hp2 NA19063.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0009 others(3): Show a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0126	8	446	0.0179	-62	c.55 others(71): Show c.551_*612delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTAAGGGCTTCATTTTAGGACC	GPR87	ENSG00000138271.6	transcript	ENST00000260843.5	protein_coding		529		chr3	TogoVar
GRHL1_chr2_9946693_10007277	9998449	TATATATA others(55): Show TATATATATACATATATATACGTATATATATACATATATATACGTATATA TACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18961.hp2 NA18995.hp1 others(2): Show HG00733.hp2 NA18961.hp2 NA18995.hp1 NA19005.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0072 a0001c0001t0001g0376 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0072 a0001c0001t0001g0376 a0001c0001t0001g0377	5	418	0.0120	-62	c.167 others(79): Show c.1678-515_1678-454delATATATATACATATATATACGTATATAT ATACATATATATACGTATATATACATATATATAC	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15			chr2	TogoVar
GRIN1_chr9_137134154_137173756	137144807	GACACGAG others(55): Show GACACGAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGGGTGGCAGGGAT GGGATGGGAGACA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp2 HG01168.hp2 others(5): Show HG00735.hp1 HG01123.hp2 HG01168.hp2 HG02135.hp1 HG02165.hp2 HG02809.hp2 NA18943.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0042 a0001c0001t0001g0143 a0001c0001t0001g0183 others(5): Show a0001c0001t0001g0042 a0001c0001t0001g0143 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0202 a0001c0001t0001g0270 a0001c0002t0001g0203 a0001c0005t0001g0205	8	298	0.0269	-62	c.394 others(77): Show c.394-918_394-857delACACGAGGGGGTCCCAGGGTCTAGAAAGTG TCCCCAGGGTGGCAGGGATGGGATGGGAGACA	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19			chr9	TogoVar
GRK4_chr4_2958571_3045760	2960676	TTATATTA others(55): Show TTATATTAATATTATAATCACATTAATATTAATATATTAATATTATAATC ACATTAATATTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	268	0.0037	-62	c.-33 others(73): Show c.-3394_-3333delTATATTAATATTATAATCACATTAATATTAATAT ATTAATATTATAATCACATTAATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2894		chr4	TogoVar
GRTP1_chr13_113319163_113369130	113346757	TGAGAGCG others(55): Show TGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGA CCTCTGTGGACAA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	288	0.0035	-62	c.466 others(79): Show c.466-1860_466-1799delTTGTCCACAGAGGTCCTCCCGGGTCTGC TCTTTGCCACAGAGGTCCTCCCAGGTCCGCTCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
HAVCR1_chr5_157024413_157064116	157044586	GGAAAGAA others(55): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp1 NA18950.hp2 others(1): Show HG02027.hp2 HG02040.hp1 NA18950.hp2 NA19079.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0274 a0003c0003t0001g0277 a0003c0003t0001g0294 others(1): Show a0003c0003t0001g0274 a0003c0003t0001g0277 a0003c0003t0001g0294 a0003c0003t0001g0306	4	352	0.0114	-62	c.782 others(79): Show c.782-1966_782-1905delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar

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