Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EXOC2_chr6_480154_698139	520863	T T	TGAAAACA others(193): Show TGAAAACAACCACCCACCGAGCCCCGATACTCACCGTCCACACTCGGAGA TGAAAACAACCGCCCACCGAGCGCCAACACTCGCCGTCCACACTCGGAGA GGAAAACCACCACCCACCGAGCCCCGATACTCACCGTCCACACTCGGAGA TGAAAACAACCGCCCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGA G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	272	0.0037	200	c.238 others(221): Show c.2380+11605_2380+11606insCTCTCCGAGTGTGGACGGCGAGTG TCGGCGCTCGGTGGGCGGTTGTTTTCATCTCCGAGTGTGGACGGTGAGTA TCGGGGCTCGGTGGGTGGTGGTTTTCCTCTCCGAGTGTGGACGGCGAGTG TTGGCGCTCGGTGGGCGGTTGTTTTCATCTCCGAGTGTGGACGGTGAGTA TCGGGGCTCGGTGGGTGGTTGTTTTC	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	521107	C C	CGGACATG others(193): Show CGGACATGAAAACCACCACCCACCGAGCGCCAACACTCACCGTCCACACT CGGACATGAAAACCACCACCCATCGAGCGCCAACACTCACCGTCCACACT CGGAGATGAAAACAACCACCCACCGAGCCCCGATACTCACCGTCCACACT CGGAGATGAAAACAACCGCCCACCGAGCGCCGACACTCACCGTCCACACT T	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19007.hp2 NA19055.hp2 HG00609.hp1 NA19007.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0006 a0001c0003t0006 a0001c0001t0005 a0001c0001t0006 a0001c0003t0006	a0001c0001t0005g0195 a0001c0001t0006g0033 a0001c0003t0006g0209 a0001c0001t0005g0195 a0001c0001t0006g0033 a0001c0003t0006g0209	3	272	0.0110	200	c.238 others(221): Show c.2380+11361_2380+11362insAAGTGTGGACGGTGAGTGTCGGCG CTCGGTGGGCGGTTGTTTTCATCTCCGAGTGTGGACGGTGAGTATCGGGG CTCGGTGGGTGGTTGTTTTCATCTCCGAGTGTGGACGGTGAGTGTTGGCG CTCGATGGGTGGTGGTTTTCATGTCCGAGTGTGGACGGTGAGTGTTGGCG CTCGGTGGGTGGTGGTTTTCATGTCC	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FAF2_chr5_176443385_176515074	176451819	T T	TATATACA others(193): Show TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	372	0.0027	200	c.63+ others(215): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451819	T T	TATATACA others(193): Show TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA CATATATATACATATATATATACACATATATATATACATATATATATACA C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	372	0.0027	200	c.63+ others(215): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATACATATATATATACACATATATATATA CATATATATATACACATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451821	T T	TATACATA others(193): Show TATACATATATATATACACATATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA C	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	372	0.0027	200	c.63+ others(215): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATATACATATATATATACACATATATATA TACATATATATATACACATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FMN2_chr1_240086883_240480187	240184948	T T	TCCCCTTC others(193): Show TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTT C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0025 a0025	a0025c0033 a0025c0033	a0025c0033t0007 a0025c0033t0007	a0025c0033t0007g0024 a0025c0033t0007g0024	1	174	0.0058	200	c.193 others(219): Show c.1931-3227_1931-3226insCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCT CTTTCTCCCTCCTATACCTTCCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FTCD_chr21_46131779_46160579	46140636	C C	CAGGGAGT others(193): Show CAGGGAGTGTAAACCAACCCAGCACTCCTCGTCCACCTTCACGTGGCTCA CAGGGAGTGTAAACCAATCCAGCACTCCCCATCTGCCTTCACATTGCTCA CAGGGAGCGTAAACCAACCCAGCACTCCTCGTCCACCTTCACATTGTTCG CAGGGAATGTAAATCAACCCAGCCCTCCCCGTCCACCTTCGCATTGCTCA G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0067 a0002c0005t0001g0067	1	230	0.0044	200	c.126 others(219): Show c.1261-1714_1261-1713insCTGAGCAATGCGAAGGTGGACGGGGA GGGCTGGGTTGATTTACATTCCCTGCGAACAATGTGAAGGTGGACGAGGA GTGCTGGGTTGGTTTACGCTCCCTGTGAGCAATGTGAAGGCAGATGGGGA GTGCTGGATTGGTTTACACTCCCTGTGAGCCACGTGAAGGTGGACGAGGA GTGCTGGGTTGGTTTACACTCCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46140636	C C	CAGGGAGT others(193): Show CAGGGAGTGTAAACCAACCCAGCACTCCTCGTCCACCTTCACGTGGCTCA CAGGGAGTGTAAACCAATCCAGCACTCCCCGTCTGCCTTCACATTGCTCA CAGGGAGCGTAAACCAACCCAGCACTCCTCGTCCACCTTCACATTGTTCG CAGGGAATGTAAATCAACCCAGCCCTCCCCGTCCACCTTCGCATTGCTCA G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(96): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18943.hp2 NA18944.hp1 NA18952.hp1 NA18954.hp2 NA18966.hp1 NA18970.hp2 NA18973.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19066.hp1 NA19067.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0022 a0001c0031 a0001c0035 a0002c0005 a0002c0006 a0002c0016 a0002c0018 a0003c0007 a0003c0014 a0003c0015 a0004c0008 a0005c0012 a0005c0017 a0006c0013 a0007c0036 a0008c0019 a0010c0026 a0011c0029 a0012c0028 a0013c0030 a0014c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0002 a0001c0003t0003 a0001c0022t0003 a0001c0031t0001 a0001c0035t0002 a0002c0005t0001 a0002c0006t0004 a0002c0016t0001 a0002c0018t0002 a0003c0007t0002 a0003c0014t0001 a0003c0015t0002 a0004c0008t0001 a0005c0012t0001 a0005c0012t0009 a0005c0017t0001 a0006c0013t0001 a0007c0036t0001 a0008c0019t0001 a0010c0026t0001 a0011c0029t0001 a0012c0028t0001 a0013c0030t0001 a0014c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0021 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0002g0143 a0001c0001t0004g0006 a0001c0001t0004g0206 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0223 a0001c0001t0007g0018 a0001c0001t0007g0019 a0001c0001t0007g0022 a0001c0001t0007g0170 a0001c0002t0001g0005 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0197 a0001c0002t0002g0061 a0001c0002t0004g0204 a0001c0003t0002g0081 a0001c0003t0003g0089 a0001c0003t0003g0174 a0001c0022t0003g0193 a0001c0031t0001g0184 a0001c0035t0002g0191 a0002c0005t0001g0011 a0002c0005t0001g0026 a0002c0005t0001g0028 a0002c0005t0001g0066 a0002c0005t0001g0146 a0002c0005t0001g0194 a0002c0006t0004g0202 a0002c0006t0004g0203 a0002c0016t0001g0025 a0002c0018t0002g0129 a0003c0007t0002g0077 a0003c0007t0002g0078 a0003c0007t0002g0135 a0003c0007t0002g0136 a0003c0007t0002g0138 a0003c0014t0001g0118 a0003c0014t0001g0137 a0003c0015t0002g0007 a0004c0008t0001g0168 a0005c0012t0001g0027 a0005c0012t0009g0014 a0005c0017t0001g0060 a0006c0013t0001g0004 a0007c0036t0001g0024 a0008c0019t0001g0057 a0010c0026t0001g0033 a0011c0029t0001g0090 a0012c0028t0001g0009 a0013c0030t0001g0172 a0014c0027t0002g0073	99	230	0.4304	200	c.126 others(219): Show c.1261-1714_1261-1713insCTGAGCAATGCGAAGGTGGACGGGGA GGGCTGGGTTGATTTACATTCCCTGCGAACAATGTGAAGGTGGACGAGGA GTGCTGGGTTGGTTTACGCTCCCTGTGAGCAATGTGAAGGCAGACGGGGA GTGCTGGATTGGTTTACACTCCCTGTGAGCCACGTGAAGGTGGACGAGGA GTGCTGGGTTGGTTTACACTCCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GABRG3_chr15_26966181_27546984	27307449	A A	ATATAGGT others(193): Show ATATAGGTTTATATATTTATATATAAACAGGTTTATAGGTTTATATATTT ATATATAAACATAGGTTTATAGGTTTATATATTTATATATAAACAGGTTT ATAGGTTTATATATTTATATATAAACATAGGTTTATAGGTTTATATATTT ATATATAAACATAGGTTTATAGGTTTATATATTTATATATAAACATAGGT T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG01884.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0019 a0001c0005t0005 a0001c0003t0019 a0001c0005t0005	a0001c0003t0019g0064 a0001c0005t0005g0045 a0001c0003t0019g0064 a0001c0005t0005g0045	2	92	0.0217	200	c.271 others(219): Show c.271-19332_271-19331insGGTTTATAGGTTTATATATTTATATA TAAACATAGGTTTATAGGTTTATATATTTATATATAAACAGGTTTATAGG TTTATATATTTATATATAAACATAGGTTTATAGGTTTATATATTTATATA TAAACATAGGTTTATAGGTTTATATATTTATATATAAACATAGGTTTATA GGTTTATATATTTATATATAAACA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAAATTATATATACAATGTATATATAATTTATATATA CATTGTATATATAATGTATATATACATTGTATATACAATGTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATATAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0062 a0001c0001t0001g0063	2	214	0.0094	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAAATTATATATACAA TGTATATATAATTTATATATACATTGTATATATAATGTATATATACATTG TATATACAATGTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATATAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAAATTATATATACATTGTATATATAATTTATATATA CAATGTATATATAATTTATATATACATTGTATATACAATTTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATATAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	214	0.0047	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAAATTATATATACAT TGTATATATAATTTATATATACAATGTATATATAATTTATATATACATTG TATATACAATTTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATATAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAAATTATATATACATTGTATATATAATTTATATATA CATTGTATATACAATTTATATATACATTGTATATACAATTTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATATAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18969.hp2 HG04184.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0208 a0001c0001t0007g0194 a0001c0001t0004g0208 a0001c0001t0007g0194	2	214	0.0094	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAAATTATATATACAT TGTATATATAATTTATATATACATTGTATATACAATTTATATATACATTG TATATACAATTTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATATAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAAATTATATATACATTGTATATATAATTTATATATA CATTGTATATATAATTTATATATACATTGTATATACAATGTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATATAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03688.hp1 HG01978.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0139 a0001c0001t0025g0136 a0001c0001t0002g0139 a0001c0001t0025g0136	2	214	0.0094	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAAATTATATATACAT TGTATATATAATTTATATATACATTGTATATATAATTTATATATACATTG TATATACAATGTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATATAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAAATTATATATACATTGTATATATAATTTATATATA CATTGTATATATAATTTATATATACATTGTATATACAATTTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATACATAAATT GTATATATAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	214	0.0047	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAAATTATATATACAT TGTATATATAATTTATATATACATTGTATATATAATTTATATATACATTG TATATACAATTTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATACATAAATTGTATATATAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAAATTATATATACATTGTATATATAATTTATATATA CATTGTATATATAATTTATATATACATTGTATATACAATTTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATATAATTTATATATAAATTGTATATACAATGTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0159 a0001c0001t0018g0159	1	214	0.0047	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAAATTATATATACAT TGTATATATAATTTATATATACATTGTATATATAATTTATATATACATTG TATATACAATTTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATATAATTTATATATAAATTGTATA TACAATGTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAAATTATATATACATTGTATATATAATTTATATATA CATTGTATATATAATTTATATATACATTGTATATACAATTTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATATAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00738.hp2 others(11): Show HG00140.hp1 HG00642.hp2 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01358.hp2 HG01516.hp2 HG02129.hp1 HG02523.hp1 HG02738.hp1 NA18612.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0030 a0001c0001t0056 a0001c0001t0065	a0001c0001t0001g0047 a0001c0001t0002g0116 a0001c0001t0002g0128 others(11): Show a0001c0001t0001g0047 a0001c0001t0002g0116 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0006g0137 a0001c0001t0006g0147 a0001c0001t0014g0133 a0001c0001t0016g0176 a0001c0001t0021g0214 a0001c0001t0030g0072 a0001c0001t0056g0068 a0001c0001t0065g0060	14	214	0.0654	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAAATTATATATACAT TGTATATATAATTTATATATACATTGTATATATAATTTATATATACATTG TATATACAATTTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATATAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAATTTATATATACAATGTATATATAATTTATATATA CATTGTATATATAAATTATATATACAATGTATATATAATTTATATATACA ATGTATATATAAATTATATATACATTGTATATACAATTTATATATACATT GTATATACAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0199 a0001c0001t0010g0199	1	214	0.0047	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAATTTATATATACAA TGTATATATAATTTATATATACATTGTATATATAAATTATATATACAATG TATATATAATTTATATATACAATGTATATATAAATTATATATACATTGTA TATACAATTTATATATACATTGTATATACAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAATTTATATATACATTGTATATATAATTTATATATA CATTGTATATACAATTTATATATAAATTGTATATACAATTTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATATAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0192 a0001c0001t0007g0192	1	214	0.0047	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAATTTATATATACAT TGTATATATAATTTATATATACATTGTATATACAATTTATATATAAATTG TATATACAATTTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATATAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALP_chr19_56171008_56190775	56176046	C C	CTGCCAGC others(193): Show CTGCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0186 a0001c0002t0024g0186	1	444	0.0023	200	c.-45 others(207): Show c.-45_-44insCCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG ATGCCAGCTGCA	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/6	1051	INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176046	C C	CTGCCAGC others(193): Show CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19011.hp1 NA19081.hp1 others(1): Show NA18939.hp1 NA19011.hp1 NA19081.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0025 a0001c0002t0007g0165 a0001c0002t0007g0172 a0001c0002t0007g0025 a0001c0002t0007g0165 a0001c0002t0007g0172	4	444	0.0090	200	c.-40 others(213): Show c.-40+79_-40+80insGCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTA GGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTA GGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTA GGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTA GGCCAGGAGGGCACAGGG	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176046	C C	CTGCCAGC others(193): Show CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01257.hp1 others(8): Show HG00280.hp1 HG01167.hp1 HG01257.hp1 HG01358.hp1 HG02602.hp2 HG02723.hp1 HG02735.hp1 HG04199.hp1 NA18953.hp1 NA18975.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0002t0005 a0002c0003t0005 a0001c0001t0005 a0001c0002t0005 a0002c0003t0005	a0001c0001t0005g0167 a0001c0001t0005g0171 a0001c0001t0005g0232 others(8): Show a0001c0001t0005g0167 a0001c0001t0005g0171 a0001c0001t0005g0232 a0001c0002t0005g0006 a0001c0002t0005g0162 a0001c0002t0005g0163 a0001c0002t0005g0175 a0001c0002t0005g0178 a0001c0002t0005g0180 a0001c0002t0005g0185 a0002c0003t0005g0214	11	444	0.0248	200	c.-40 others(214): Show c.-40+75_-40+274dupCAGGGTCGGCTGCCAGCTGCAGCGGGGTGAG AGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAG AGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGAG AGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAG AGCCTAGGCCAGGAGGGCA	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176058	G G	GCGGGGTG others(193): Show GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGCTGCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGCTGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGCTGCCAGCTGCA C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18966.hp1 NA19004.hp2 NA18939.hp2 NA18966.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0011 a0002c0003t0011 a0001c0002t0011 a0002c0003t0011	a0001c0002t0011g0157 a0001c0002t0011g0158 a0002c0003t0011g0283 a0001c0002t0011g0157 a0001c0002t0011g0158 a0002c0003t0011g0283	3	444	0.0068	200	c.-40 others(213): Show c.-40+33_-40+34insCTGCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCACAGGGGCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCACAGGGGCGGCTGCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGG	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176296	A A	ATGCCAGC others(193): Show ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGG CTGCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGG ATGCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGG ATCCAAGCTGCACTGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGG C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0126 a0001c0001t0019g0126	1	444	0.0023	200	c.-40 others(215): Show c.-40+235_-40+236insGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGTGGCTGCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGTGGATGCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGTGGATCCAAGCTGCACTGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGTGGCT	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176648	C C	CCCAGCTG others(193): Show CCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGAT CCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGAT GCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGAT GCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGGCT G	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	444	0.0023	200	c.-39 others(215): Show c.-39-421_-39-420insCAGCTGCACCGGGGTGAGAGCCTAGGCCAG GAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAG GAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAG GAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAG GAGGGCAGAGGGGTGGCTGC	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALR1_chr18_77244848_77282900	77259174	G G	GGTGGCGA others(193): Show GGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTG GTGATGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGACGGT GATGATGATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTG GTGGTGGTCACAGTGGTGGTGATGTTGGTGTTGGTGGTGGTCATGGTGGT C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0058 a0001c0001t0016g0058	1	366	0.0027	200	c.732 others(217): Show c.732+2951_732+2952insGTGGCGATTGTGGTGATGGTGGTGGATG GTGGTGGTGGTCACAGTGGTGGTGATGTTGGTGTTGGTGGTGGTCATGGT GGTCATGGTGGTGATGACGGTGATGATGATGGTGGTCATGGTGGCGATTG TGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGATGTTGGT GTTGGTGGTGGTCATGGTGGTC	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2			chr18	TogoVar
GALR1_chr18_77244848_77282900	77259178	G G	GCGATTGT others(193): Show GCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGA TGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGATGGTCATG GTGGTGATGACGGTGATGATGATGGTGGTCATGGTGGCGATTGTGGTGAT GGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGGTGGTC A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0041 a0001c0001t0102g0041	1	366	0.0027	200	c.732 others(217): Show c.732+2955_732+2956insCGATTGTGGTGATGGTGGTGGATGGTGG TGGTGGTCACAGTGGTGGTGATGTTGGTGTTGGTGGTGGTCATGGTGGTC ATGGTGGTGATGATGGTCATGGTGGTGATGACGGTGATGATGATGGTGGT CATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTG GTGGTGGTGTTGGTGGTGGTCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2			chr18	TogoVar
GATD3_chr21_44128683_44150711	44147674	G G	GCCCCCCA others(193): Show GCCCCCCAGCACCCCCACCACTCCCAGCTGCTCCACACTCAACCCCCAGC TCCCCCACCACTCCCAGCTGCTCCACACTCAACCCCCAGCTCCCCACCAC TCCCAGCTGCTCCACACTCAACCCCCAGCTCCCCCACCACTCCCAACTCC TCCACACTCAGCCCCCAGCTCCCCCACCACTCCCAGCTCCTCCACAGTCA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	54	0.0185	200	c.27 others(211): Show c.2725_*2726insCCCCCCAGCACCCCCACCACTCCCAGCTGCTCCA CACTCAACCCCCAGCTCCCCCACCACTCCCAGCTGCTCCACACTCAACCC CCAGCTCCCCACCACTCCCAGCTGCTCCACACTCAACCCCCAGCTCCCCC ACCACTCCCAACTCCTCCACACTCAGCCCCCAGCTCCCCCACCACTCCCA GCTCCTCCACAGTCAA	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding		1964		chr21	TogoVar
GATD3_chr21_44128683_44150711	44147683	A A	ACCCCCAC others(193): Show ACCCCCACCACTCCCAGCTGCTCCACACTCAACCCCCAGCTCCCCCACCA CTCCCACTGCTCCACACTCAACCCCCAGCTCCCCCACCACTCCCAGCTGC TCCACACTCAACCCCCCAGCTCCCCCACCACTCCCAACTCCTCCACACTC AGCCCCCAGCTCCCCCACCACTCCCAGCTCCTCCACAGTCAACCCCCAGC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	54	0.0185	200	c.27 others(211): Show c.2734_*2735insCCCCCACCACTCCCAGCTGCTCCACACTCAACCC CCAGCTCCCCCACCACTCCCACTGCTCCACACTCAACCCCCAGCTCCCCC ACCACTCCCAGCTGCTCCACACTCAACCCCCCAGCTCCCCCACCACTCCC AACTCCTCCACACTCAGCCCCCAGCTCCCCCACCACTCCCAGCTCCTCCA CAGTCAACCCCCAGCT	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding		1973		chr21	TogoVar
GATD3_chr21_44128683_44150711	44147683	A A	ACCCCCAC others(193): Show ACCCCCACCACTCCCAGCTGCTCCACACTCAACCCCCAGCTCCCCCACCA CTCCCAGCTGCTCCACACTCAACCCCCAGCTCCCCCACCACTCCCAGCTG CTCCACACTCAACCCCCAGCTCCCCCACCACTCCCAACTCCTCCACACTC AGCCCCCAGCTCCCCCACCACTCCCAGCTCCTCCACAGTCAACCCCCAGC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01358.hp1 HG02148.hp1 others(13): Show HG01081.hp2 HG01358.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02717.hp1 HG02809.hp1 HG02922.hp2 HG03139.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 NA18612.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0002c0002t0003 others(2): Show a0001c0001t0005 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006	a0001c0001t0005g0020 a0002c0002t0002g0004 a0002c0002t0002g0027 others(7): Show a0001c0001t0005g0020 a0002c0002t0002g0004 a0002c0002t0002g0027 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0004g0003 a0002c0002t0004g0021 a0002c0002t0006g0003	16	54	0.2963	200	c.27 others(211): Show c.2734_*2735insCCCCCACCACTCCCAGCTGCTCCACACTCAACCC CCAGCTCCCCCACCACTCCCAGCTGCTCCACACTCAACCCCCAGCTCCCC CACCACTCCCAGCTGCTCCACACTCAACCCCCAGCTCCCCCACCACTCCC AACTCCTCCACACTCAGCCCCCAGCTCCCCCACCACTCCCAGCTCCTCCA CAGTCAACCCCCAGCT	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding		1973		chr21	TogoVar
GDF2_chr10_47317454_47332588	47329529	T T	TGTGGTGT others(193): Show TGTGGTGTGTGCACACTGAGGGGGGTGAGTGATGTGTGTGCACACTGGGA TGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGATGCGGTGTGTGCACC CTGGGATGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGATGCGGTGTG TGCACCCTGGGATGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGATGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	424	0.0024	200	c.37 others(211): Show c.3745_*3746insGTGGTGTGTGCACACTGAGGGGGGTGAGTGATGT GTGTGCACACTGGGATGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGA TGCGGTGTGTGCACCCTGGGATGAGTGATGCGGTGTGTGCACACTGGGGT GAGTGATGCGGTGTGTGCACCCTGGGATGAGTGATGCGGTGTGTGCACAC TGGGGTGAGTGATGTG	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		1942		chr10	TogoVar
GET4_chr7_871554_901436	890359	C C	CGAGCGGG others(193): Show CGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGGAGCGCGAGCGGGT GTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGG GGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAG TGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCG A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0170 a0001c0003t0001g0170	1	384	0.0026	200	c.467 others(215): Show c.467-559_467-558insTAGGACGGGGTCTGGGAGTGGAGGGGAGCG CGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTG GAGGGAGCGAGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GNAQ_chr9_77711097_78036811	77894338	T T	TTATATAT others(193): Show TTATATATATTTAATAGAAAATATATAATATATATATTTAATAGAAAATA TATAATATATATTTAATAGAAAATATATATAATATATATATTTAATAGAA AAAATATATTATATATATTTAATAGAAAAATATATATATTATATATAATT TAATATTAAAAATATATATAATATATATATTTAATATTAAAATATATATA A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0038 a0001c0001t0077g0038	1	282	0.0036	200	c.321 others(219): Show c.321+27822_321+27823insTTATATATATTTTAATATTAAATATA TATATTATATATATTTTTAATATTAAATTATATATAATATATATATTTTT CTATTAAATATATATAATATATTTTTTCTATTAAATATATATATTATATA TATTTTCTATTAAATATATATTATATATTTTCTATTAAATATATATATTA TATATTTTCTATTAAATATATATA	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77894338	T T	TTATATAT others(193): Show TTATATATATTTAATAGAAAATATATAATATATATATTTAATAGAAAATA TATAATATATATTTAATAGAAAATATATATAATATATATTTAATAGAAAA AATATATAATATATATATTTAATAGAAAAATATATATATTATATATAATT TAATATTAAAAATATATATAATATATATATTTAATATTAAAATATATATA A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00735.hp2 others(8): Show HG00099.hp1 HG00323.hp2 HG00735.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG02083.hp2 HG02922.hp1 HG03942.hp1 HG04115.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 others(5): Show a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038	a0001c0001t0016g0007 a0001c0001t0016g0008 a0001c0001t0016g0009 others(8): Show a0001c0001t0016g0007 a0001c0001t0016g0008 a0001c0001t0016g0009 a0001c0001t0020g0001 a0001c0001t0020g0010 a0001c0001t0025g0141 a0001c0001t0034g0005 a0001c0001t0035g0002 a0001c0001t0036g0006 a0001c0001t0037g0011 a0001c0001t0038g0004	11	282	0.0390	200	c.321 others(219): Show c.321+27822_321+27823insTTATATATATTTTAATATTAAATATA TATATTATATATATTTTTAATATTAAATTATATATAATATATATATTTTT CTATTAAATATATATATTATATATTTTTTCTATTAAATATATATTATATA TATTTTCTATTAAATATATATTATATATTTTCTATTAAATATATATATTA TATATTTTCTATTAAATATATATA	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77894359	T T	TATATAAT others(193): Show TATATAATATATATATTTAATAGAAAATATATAATATATATTTAATAGAA AATATATATAATATATATATTTAATAGAAAAAATATATAATATATATATT TAATAGAAAAATATATATATTATATATAATTTAATATTAAATATATATAT AATATATATATTTAATATTAAAATATATAATATATATATTTAATAGAAAA A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	282	0.0036	200	c.321 others(219): Show c.321+27801_321+27802insTTTTTCTATTAAATATATATATTATA TATTTTAATATTAAATATATATATTATATATATATTTAATATTAAATTAT ATATAATATATATATTTTTCTATTAAATATATATATTATATATTTTTTCT ATTAAATATATATATTATATATATTTTCTATTAAATATATATTATATATT TTCTATTAAATATATATATTATAT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77894359	T T	TATATAAT others(193): Show TATATAATATATATATTTAATAGAAAATATATAATATATATTTAATAGAA AATATATATAATATATATATTTAATAGAAAAAATATATAATATATATATT TAATAGAAAAATATATATATTATATATAATTTAATATTAAATATATATAT AATATATATATTTAATATTAAAATATATATAATATATATTTAATAGAAAA A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	282	0.0036	200	c.321 others(219): Show c.321+27801_321+27802insTTTTTCTATTAAATATATATTATATA TATTTTAATATTAAATATATATATTATATATATATTTAATATTAAATTAT ATATAATATATATATTTTTCTATTAAATATATATATTATATATTTTTTCT ATTAAATATATATATTATATATATTTTCTATTAAATATATATTATATATT TTCTATTAAATATATATATTATAT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GOLGA3_chr12_132763914_132833869	132793238	T T	TGACCCAC others(193): Show TGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCG CACGGGACCCGCACTCGGAGGGCTCCACACTGACCCACCGCACGGGACCC GCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAG GGCTCCACACAGACCCACCCCACGGGACCCGCACTCGGAGGGCTCCACAC A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04228.hp2 HG03927.hp1 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0052 a0002c0002t0002 a0002c0002t0052	a0002c0002t0002g0217 a0002c0002t0052g0220 a0002c0002t0002g0217 a0002c0002t0052g0220	2	308	0.0065	200	c.247 others(219): Show c.2470-1946_2470-1945insTGTGTGGAGCCCTCCGAGTGCGGGTC CCGTGGGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTG GGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCAGTGTG GAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTGGAGCCCTCCG AGTGCGGGTCCCGTGCGGTGGGTC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793363	C C	CACCGCAC others(193): Show CACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCACACGG GATCTGAACTCGGAGGGCTCCACACAGACAGACCGCACGGGACCCGCACT CGGAGGGCTCCACACAGACCCACCCCACGGGACCCGCACTCGGAGGGCTC CACACAGACCCACCACACGGGATCTGAACTCGGAGGGCTCCACACAGACA G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp2 HG03540.hp2 others(3): Show HG02559.hp2 HG02965.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0014 a0005c0006t0062 a0005c0006t0063 others(1): Show a0005c0006t0014 a0005c0006t0062 a0005c0006t0063 a0005c0006t0065	a0005c0006t0014g0018 a0005c0006t0014g0019 a0005c0006t0014g0020 others(3): Show a0005c0006t0014g0018 a0005c0006t0014g0019 a0005c0006t0014g0020 a0005c0006t0062g0016 a0005c0006t0063g0013 a0005c0006t0065g0017	6	308	0.0195	200	c.247 others(219): Show c.2470-2071_2470-2070insCTGTCTGTGTGGAGCCCTCCGAGTTC AGATCCCGTGTGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTG GGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTCTGTCT GTGTGGAGCCCTCCGAGTTCAGATCCCGTGTGGTGGGTCTGTGTGGAGCC CTCCGAGTGCGGGTCCCGTGCGGT	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793398	A A	AGACCCAC others(193): Show AGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCG CACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCC GCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAG GGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACAC T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	308	0.0033	200	c.247 others(219): Show c.2470-2106_2470-2105insAGTGTGGAGCCCTCCGAGTGCGGGTC CCGTGCGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTG GGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTG GAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTGGAGCCCTCCG AGTGCGGGTCCCGTGCGGTGGGTC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793478	A A	AGACCCAC others(193): Show AGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCG CACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCC GCACTCGGAGGGCTCCACACAGACCCACCGCACGGGATCTGCACTCGGAG GGCTCCATACAGACCCACGGCACAGGACCCGCACTCGGAGGGCTCCACAC T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0019 a0001c0018t0019	a0001c0018t0019g0132 a0001c0018t0019g0132	1	308	0.0033	200	c.247 others(219): Show c.2470-2186_2470-2185insAGTGTGGAGCCCTCCGAGTGCGGGTC CTGTGCCGTGGGTCTGTATGGAGCCCTCCGAGTGCAGATCCCGTGCGGTG GGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTG GAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTGGAGCCCTCCG AGTGCGGGTCCCGTGCGGTGGGTC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLM1_chr9_86021146_86104558	86053681	T T	TCCACACA others(193): Show TCCACACACCACACACCATTCCAAACCATGCTACACACCACACACCACAC CACACACTCCACACCAGAACACACACCATGCCACACCACTCCACACAACA CGCCACACACCATTCCACACCAAACCACACCCCACACACTCCACACCACA CACAACCACTCCATACCAAACCACACACCATACCACACTCCACACTCCAC A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00597.hp2 others(64): Show HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00741.hp1 HG01106.hp1 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp1 HG02602.hp1 HG02698.hp1 HG02965.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18982.hp2 NA18986.hp2 NA18992.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19009.hp2 NA19011.hp2 NA19054.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19083.hp1 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0002c0006 a0002c0007 a0006c0014	a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 others(12): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0004t0011 a0002c0002t0001 a0002c0002t0003 a0002c0002t0009 a0002c0002t0010 a0002c0006t0005 a0002c0007t0005 a0002c0007t0018 a0006c0014t0003	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0011g0125 others(64): Show a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0011g0125 a0001c0001t0013g0109 a0001c0001t0013g0132 a0001c0001t0014g0252 a0001c0001t0016g0058 a0001c0001t0020g0007 a0001c0004t0011g0016 a0001c0004t0011g0017 a0002c0002t0001g0282 a0002c0002t0003g0219 a0002c0002t0003g0226 a0002c0002t0003g0251 a0002c0002t0003g0258 a0002c0002t0003g0259 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0267 a0002c0002t0003g0268 a0002c0002t0003g0269 a0002c0002t0003g0271 a0002c0002t0003g0272 a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0275 a0002c0002t0003g0276 a0002c0002t0003g0279 a0002c0002t0003g0283 a0002c0002t0003g0285 a0002c0002t0003g0286 a0002c0002t0003g0287 a0002c0002t0003g0288 a0002c0002t0003g0289 a0002c0002t0003g0290 a0002c0002t0003g0291 a0002c0002t0003g0292 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0296 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0306 a0002c0002t0003g0307 a0002c0002t0003g0309 a0002c0002t0003g0310 a0002c0002t0003g0311 a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0009g0265 a0002c0002t0009g0280 a0002c0002t0009g0281 a0002c0002t0009g0295 a0002c0002t0010g0122 a0002c0006t0005g0036 a0002c0007t0005g0026 a0002c0007t0005g0066 a0002c0007t0005g0085 a0002c0007t0005g0089 a0002c0007t0005g0093 a0002c0007t0005g0094 a0002c0007t0018g0060 a0006c0014t0003g0298	67	314	0.2134	200	c.310 others(217): Show c.310-1091_310-1090insTGTGGAGTGTGGAGTGTGGTATGGTGTG TGGTTTGGTATGGAGTGGTTGTGTGTGGTGTGGAGTGTGTGGGGTGTGGT TTGGTGTGGAATGGTGTGTGGCGTGTTGTGTGGAGTGGTGTGGCATGGTG TGTGTTCTGGTGTGGAGTGTGTGGTGTGGTGTGTGGTGTGTAGCATGGTT TGGAATGGTGTGTGGTGTGTGG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATATATG others(193): Show TATATATGTTCATATATATATATGTTCATATATATGTTCATATATATATG TTCATATATATGTATGTTCATATATATATGTACATATATATGTTCATATA TGTATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCA TATATATATGTACATATATATGTACATATATATATGTTCATATATATGTT C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19080.hp1 NA18983.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0197 a0001c0001t0001g0199	2	234	0.0086	200	c.143 others(217): Show c.143+2190_143+2191insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATGTATGTTCATATATATATGTACATATATATGTACATATATATAT GTTCATATATATGTTCATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATATATG others(193): Show TATATATGTTCATATATATATATGTTCATATATATGTTCATATATATATG TTCATATATATGTATGTTCATATATATATGTACATATATATGTTCATATA TGTATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCA TATATATATGTACATATATATGTTCATATATATATGTTCATATATATGTT C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	234	0.0043	200	c.143 others(217): Show c.143+2190_143+2191insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATGTATGTTCATATATATATGTACATATATATGTTCATATATATAT GTTCATATATATGTTCATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66683415	T T	TATATATA others(193): Show TATATATATGTACATATATATGTTCATATATGTATGTTCATATATATATG TACATATATATGTTCATATATGTATGTTCATATATATATGTACATATATA TGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATA TATATGTTCATATATATATGTTCATATATATATGTTCATATATATATGTT C	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA20300.hp1 HG01071.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0213 a0001c0001t0001g0183 a0001c0001t0001g0213	2	234	0.0086	200	c.143 others(217): Show c.143+2238_143+2239insGTACATATATATGTTCATATATGTATGT TCATATATATATGTACATATATATGTTCATATATGTATGTTCATATATAT ATGTACATATATATGTTCATATATATATGTTCATATATATGTTCATATAT ATATGTTCATATATATATGTTCATATATATATGTTCATATATATATGTTC ATATATATATGTTCATATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GRHL1_chr2_9946693_10007277	9998583	T T	TGTGTACA others(193): Show TGTGTACACATATATATACACATATATGTGTACACATATATATACACATA TATGTGTACACATATATATACACATATATGTGTACACATATATATACACA TATATGTGTACACATATATATACACATATATGTGTACACATATATATACA CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01993.hp1 HG00597.hp2 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0212 a0002c0002t0002g0347 a0002c0002t0002g0212 a0002c0002t0002g0347	2	418	0.0048	200	c.167 others(217): Show c.1678-382_1678-381insGTGTACACATATATATACACATATATGT GTACACATATATATACACATATATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATACACAT ATATGTGTACACATATATATAC	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15			chr2	TogoVar
GRM5_chr11_88499642_89070982	88687579	A A	ATATATTA others(193): Show ATATATTATATATATATTATATATATATTATATATATATATTATATATAT ATTATATATATATTATATATATATTATATATATATTATATATATATTATA TATATATTATATATATATTATATATATAATATATATATAATATATATATT ATATATATTATATATATAATATATATATTATATATATTATATATATTATA T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG03139.hp1 HG02486.hp2 HG02572.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0150 a0001c0001t0004g0008 a0001c0001t0004g0169 a0001c0001t0003g0150 a0001c0001t0004g0008 a0001c0001t0004g0169	3	184	0.0163	200	c.912 others(219): Show c.912-34177_912-34176insATATAATATATATAATATATATAATA TATATATTATATATATAATATATATAATATATATATTATATATATATTAT ATATATAATATATATATAATATATATATAATATATATATAATATATATAT AATATATATATAATATATATATAATATATATATAATATATATATATAATA TATATATAATATATATATAATATA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRP_chr18_59215158_59235771	59233701	A A	ATATATAA others(193): Show ATATATAATATGTTATATAATATATAATATAATATATGATATATCACATG TTATATAATATATAATATATTATATAACATATGATATATCATATATTATA TAACATGTTATATAACATATAACATGTTATATAACATGCTATATAACATA TAACATGTTATATAACATGTTGTATAATATGTTATATAATATGTTATATG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	1	408	0.0025	200	c.32 others(211): Show c.3233_*3234insTATATAATATGTTATATAATATATAATATAATAT ATGATATATCACATGTTATATAATATATAATATATTATATAACATATGAT ATATCATATATTATATAACATGTTATATAACATATAACATGTTATATAAC ATGCTATATAACATATAACATGTTATATAACATGTTGTATAATATGTTAT ATAATATGTTATATGT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		2931		chr18	TogoVar
GRP_chr18_59215158_59235771	59233701	A A	ATATATAA others(193): Show ATATATAATATGTTATATAATATATAATATAATATATGATATATCACATG TTATATAATATATAATATATTATATAATATATTATATAACATATGATATA TCATATATTATATAACATGTTATATAACATATAACATATTATATAACATG CTATATAACATATAACATGTTATATAACATGTTGTATAATATGTTATATG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	408	0.0025	200	c.32 others(211): Show c.3233_*3234insTATATAATATGTTATATAATATATAATATAATAT ATGATATATCACATGTTATATAATATATAATATATTATATAATATATTAT ATAACATATGATATATCATATATTATATAACATGTTATATAACATATAAC ATATTATATAACATGCTATATAACATATAACATGTTATATAACATGTTGT ATAATATGTTATATGT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		2931		chr18	TogoVar
GXYLT2_chr3_72883046_72981915	72966792	A A	ATTTTTGT others(193): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0254 a0001c0001t0005g0254	1	296	0.0034	200	c.977 others(215): Show c.977-742_977-741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTTGTATTTTT	GXYLT2	ENSG00000172986.13	transcript	ENST00000389617.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH3_chr20_62209960_62225278	62213519	A A	ATGGGGGA others(193): Show ATGGGGGAAGGGAGAGCAAGGATGGGGGGGAAGGAGAGTGGGGATGGGTG GGGGAAGGAGAGTGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGGAAG GAGAGCGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAGGGAGAGC GGGGATGGGGAAGGGAGAGCAAGGATGGGGGGGAAGGAGAGTGGGGATGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	368	0.0027	200	c.24 others(211): Show c.2486_*2487insCCCATCCCCACTCTCCTTCCCCCCCATCCTTGCT CTCCCTTCCCCATCCCCGCTCTCCCTCCCCCATCCCCGCTCTCCTTCCCC CACCCATCCCCGCTCTCCTTCCCCCCCATCCCTGCTCTCCCTTCCCCCAT CCCCACTCTCCTTCCCCCACCCATCCCCACTCTCCTTCCCCCCCATCCTT GCTCTCCCTTCCCCCA	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1440		chr20	TogoVar
HSF1_chr8_144286604_144319720	144313660	G G	GCGCCTCC others(193): Show GCGCCTCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCACCGCCTCCCCG CACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGCCT CCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCTCCCCGCGCCGCCGCGCCGCGCCGCCTCCCCGCCTC C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	330	0.0030	200	c.124 others(215): Show c.1248+45_1248+46insGCCTCCCCGCCTCCCCGCGCCTCCCCGCCT CCCCGCACCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCACCGCCTCCC CGCCTCCCCGCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTC CCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCGCGCC GCGCCGCCTCCCCGCCTCCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar

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Search Results (Total: 10000 hits)