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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GNA13_chr17_65004289_65061740	65018092	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0140 a0001c0005t0009g0140	1	180	0.0056	-18	c.561 others(33): Show c.561+143_561+160delTTTTTTTTTTTTTTTTTT		GNA13	ENSG00000120063.10	transcript	ENST00000439174.7	protein_coding	3/3						chr17	TogoVar
GNA13_chr17_65004289_65061740	65031919	AGAGTGTG others(11): Show AGAGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG02109.hp1 others(13): Show HG01099.hp1 HG01884.hp1 HG02109.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024	a0001c0001t0003g0001 a0001c0001t0003g0126 a0001c0001t0003g0127 others(11): Show a0001c0001t0003g0001 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0018g0135 a0001c0001t0023g0129 a0001c0001t0024g0134	16	180	0.0889	-18	c.511 others(37): Show c.511-13634_511-13617delACACACACACACACACTC		GNA13	ENSG00000120063.10	transcript	ENST00000439174.7	protein_coding	2/3						chr17	TogoVar
GNA13_chr17_65004289_65061740	65031921	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02965.hp1 HG03540.hp1 others(1): Show HG00639.hp2 HG02965.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0009 a0001c0001t0016 a0001c0005t0009 a0001c0001t0009 a0001c0001t0016 a0001c0005t0009	a0001c0001t0009g0154 a0001c0001t0009g0155 a0001c0001t0016g0124 others(1): Show a0001c0001t0009g0154 a0001c0001t0009g0155 a0001c0001t0016g0124 a0001c0005t0009g0140	4	180	0.0222	-18	c.511 others(37): Show c.511-13636_511-13619delACACACACACACACACAC		GNA13	ENSG00000120063.10	transcript	ENST00000439174.7	protein_coding	2/3						chr17	TogoVar
GNA14_chr9_77418079_77653322	77615702	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02056.hp1 HG02129.hp1 others(6): Show HG01081.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp2 HG03130.hp1 HG03130.hp2 HG03486.hp2 HG04228.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0002t0001	a0001c0001t0002g0222 a0001c0001t0006g0145 a0001c0001t0012g0147 others(6): Show a0001c0001t0002g0222 a0001c0001t0006g0145 a0001c0001t0012g0147 a0001c0001t0014g0226 a0001c0001t0016g0057 a0001c0001t0017g0227 a0001c0002t0001g0038 a0001c0002t0001g0146 a0001c0002t0001g0153	9	240	0.0375	-18	c.124 others(37): Show c.124+31950_124+31967delGTGTGTGTGTGTGTGTGT		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6						chr9	TogoVar
GNA14_chr9_77418079_77653322	77618606	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	240	0.0042	-18	c.124 others(37): Show c.124+29046_124+29063delAAAATATATATATATATA		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6						chr9	TogoVar
GNA14_chr9_77418079_77653322	77618608	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	240	0.0042	-18	c.124 others(37): Show c.124+29044_124+29061delAAAAAATATATATATATA		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6						chr9	TogoVar
GNA14_chr9_77418079_77653322	77623216	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	240	0.0042	-18	c.124 others(37): Show c.124+24436_124+24453delTTTTTTTTTTTTTTTTTT		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6						chr9	TogoVar
GNA15_chr19_3131033_3168749	3135837	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 NA18945.hp2 HG03942.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0047 a0001c0002t0001g0001 a0001c0002t0001g0047	2	450	0.0044	-18	c.-61 others(27): Show c.-613_-596delAAAAAAATATATATATAT		GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding					195		chr19	TogoVar
GNAI1_chr7_80129831_80231181	80187191	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTCTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02809.hp1 others(6): Show HG02055.hp2 HG02622.hp1 HG02809.hp1 HG02922.hp1 HG03579.hp1 NA18939.hp2 NA19065.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0042 a0001c0005t0043 others(3): Show a0001c0001t0003 a0001c0005t0042 a0001c0005t0043 a0001c0005t0107 a0001c0005t0133 a0001c0005t0134	a0001c0001t0003g0194 a0001c0001t0003g0201 a0001c0005t0042g0127 others(6): Show a0001c0001t0003g0194 a0001c0001t0003g0201 a0001c0005t0042g0127 a0001c0005t0042g0278 a0001c0005t0043g0136 a0001c0005t0043g0217 a0001c0005t0107g0213 a0001c0005t0133g0212 a0001c0005t0134g0216	9	312	0.0289	-18	c.119 others(35): Show c.119-1744_119-1727delCTTTGTGTGTGTGTGTGT		GNAI1	ENSG00000127955.17	transcript	ENST00000649796.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
GNAI3_chr1_109543615_109605195	109558702	TTTTGCTC others(11): Show TTTTGCTCCTTATTAATAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG00673.hp1 others(94): Show HG00438.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01361.hp2 HG01934.hp2 HG01978.hp1 HG02027.hp1 HG02071.hp2 HG02080.hp1 HG02155.hp2 HG02165.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03491.hp1 HG03579.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19012.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19070.hp2 NA19072.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19089.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0038 a0001c0001t0039 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0002c0002t0002 a0003c0004t0002	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0009 others(74): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0028 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0182 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0236 a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0169 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0003g0181 a0001c0001t0003g0184 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0192 a0001c0001t0010g0024 a0001c0001t0010g0147 a0001c0001t0010g0148 a0001c0001t0010g0220 a0001c0001t0016g0027 a0001c0001t0016g0159 a0001c0001t0016g0175 a0001c0001t0017g0044 a0001c0001t0017g0158 a0001c0001t0017g0176 a0001c0001t0028g0224 a0001c0001t0028g0231 a0001c0001t0029g0003 a0001c0001t0029g0164 a0001c0001t0030g0214 a0001c0001t0030g0215 a0001c0001t0038g0179 a0001c0001t0039g0003 a0001c0001t0070g0172 a0001c0001t0071g0180 a0001c0001t0072g0157 a0001c0001t0073g0191 a0001c0001t0074g0001 a0001c0001t0075g0003 a0001c0001t0076g0183 a0001c0001t0077g0001 a0001c0001t0078g0154 a0001c0001t0079g0213 a0001c0001t0080g0162 a0002c0002t0002g0003 a0002c0002t0002g0140 a0003c0004t0002g0028	97	310	0.3129	-18	c.118 others(35): Show c.118+9871_118+9888delCCTTATTAATAATTTGCT		GNAI3	ENSG00000065135.12	transcript	ENST00000369851.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
GNAL_chr18_11684264_11890685	11727368	CAGCTACC others(11): Show CAGCTACCTTTTCAAATAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA21309.hp2 HG02886.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0178 a0002c0002t0050 a0001c0001t0178 a0002c0002t0050	a0001c0001t0178g0027 a0002c0002t0050g0058 a0001c0001t0178g0027 a0002c0002t0050g0058	2	248	0.0081	-18	c.377 others(37): Show c.377-25483_377-25466delGCTACCTTTTCAAATAAA		GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAO1_chr16_56186489_56362444	56277776	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(16): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00733.hp2 HG01071.hp2 HG01074.hp2 HG02027.hp2 HG02300.hp2 HG02602.hp2 HG02698.hp2 HG02738.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03710.hp1 NA18612.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0098 a0001c0001t0001g0196 a0001c0001t0001g0242 others(16): Show a0001c0001t0001g0098 a0001c0001t0001g0196 a0001c0001t0001g0242 a0001c0001t0004g0178 a0001c0001t0004g0185 a0001c0001t0004g0237 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0002t0001g0111 a0001c0002t0001g0130 a0001c0002t0001g0147 a0001c0002t0001g0191 a0001c0002t0001g0198 a0001c0002t0002g0190 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0003g0233 a0001c0002t0003g0235 a0001c0002t0006g0193	19	298	0.0638	-18	c.303 others(35): Show c.303+1753_303+1770delACACACACACACACACAC		GNAO1	ENSG00000087258.16	transcript	ENST00000262493.12	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
GNAO1_chr16_56186489_56362444	56300041	GCGCGCGC others(11): Show GCGCGCGCGCGCACGCACA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0089 a0001c0001t0009g0089	1	298	0.0034	-18	c.303 others(37): Show c.303+23970_303+23987delCGCGCGCGCGCACGCACA		GNAO1	ENSG00000087258.16	transcript	ENST00000262493.12	protein_coding	3/8						chr16	TogoVar
GNAQ_chr9_77711097_78036811	77857673	GAAGGAGG others(11): Show GAAGGAGGGGAAGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00438.hp1 others(117): Show HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02258.hp1 HG02300.hp2 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18980.hp1 NA18986.hp1 NA18988.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19090.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0048 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0073 a0001c0001t0078 a0001c0001t0080 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087	a0001c0001t0001g0058 a0001c0001t0001g0112 a0001c0001t0001g0148 others(117): Show a0001c0001t0001g0058 a0001c0001t0001g0112 a0001c0001t0001g0148 a0001c0001t0001g0206 a0001c0001t0001g0249 a0001c0001t0002g0201 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0003g0069 a0001c0001t0003g0093 a0001c0001t0003g0199 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0223 a0001c0001t0003g0229 a0001c0001t0003g0236 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0004g0036 a0001c0001t0004g0040 a0001c0001t0004g0055 a0001c0001t0004g0094 a0001c0001t0004g0096 a0001c0001t0004g0101 a0001c0001t0004g0143 a0001c0001t0004g0205 a0001c0001t0004g0208 a0001c0001t0004g0224 a0001c0001t0004g0228 a0001c0001t0004g0270 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0041 a0001c0001t0005g0054 a0001c0001t0005g0056 a0001c0001t0005g0090 a0001c0001t0005g0095 a0001c0001t0005g0098 a0001c0001t0005g0103 a0001c0001t0005g0106 a0001c0001t0005g0221 a0001c0001t0005g0246 a0001c0001t0005g0263 a0001c0001t0006g0113 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0147 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0230 a0001c0001t0006g0256 a0001c0001t0007g0142 a0001c0001t0007g0189 a0001c0001t0007g0203 a0001c0001t0007g0210 a0001c0001t0007g0222 a0001c0001t0007g0226 a0001c0001t0007g0231 a0001c0001t0007g0233 a0001c0001t0008g0191 a0001c0001t0013g0031 a0001c0001t0013g0037 a0001c0001t0013g0042 a0001c0001t0013g0084 a0001c0001t0013g0139 a0001c0001t0022g0012 a0001c0001t0022g0018 a0001c0001t0023g0013 a0001c0001t0023g0021 a0001c0001t0026g0088 a0001c0001t0026g0089 a0001c0001t0028g0062 a0001c0001t0028g0110 a0001c0001t0029g0207 a0001c0001t0029g0260 a0001c0001t0030g0158 a0001c0001t0030g0190 a0001c0001t0031g0047 a0001c0001t0031g0049 a0001c0001t0041g0019 a0001c0001t0043g0014 a0001c0001t0044g0029 a0001c0001t0046g0180 a0001c0001t0048g0048 a0001c0001t0054g0114 a0001c0001t0056g0247 a0001c0001t0057g0241 a0001c0001t0058g0262 a0001c0001t0059g0254 a0001c0001t0060g0232 a0001c0001t0061g0220 a0001c0001t0063g0144 a0001c0001t0065g0091 a0001c0001t0066g0100 a0001c0001t0067g0099 a0001c0001t0069g0102 a0001c0001t0071g0050 a0001c0001t0073g0269 a0001c0001t0078g0085 a0001c0001t0080g0128 a0001c0001t0084g0238 a0001c0001t0085g0272 a0001c0001t0086g0273 a0001c0001t0087g0279	120	282	0.4255	-18	c.322 others(37): Show c.322-41921_322-41904delTCTCTCCTTCCCCTCCTT		GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6						chr9	TogoVar
GNAQ_chr9_77711097_78036811	77889410	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0140 a0001c0001t0009g0140	1	282	0.0036	-18	c.321 others(37): Show c.321+32733_321+32750delTTTTTTTTTTTTTTTTTT		GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6						chr9	TogoVar
GNAS_chr20_58834748_58916192	58843192	CCCTCCCC others(11): Show CCCTCCCCCGCTCAATTCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02895.hp1 HG03041.hp1 others(3): Show HG00738.hp2 HG02895.hp1 HG03041.hp1 HG03516.hp1 HG06807.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0018 a0002c0003t0019 others(1): Show a0002c0003t0006 a0002c0003t0018 a0002c0003t0019 a0002c0003t0027	a0002c0003t0006g0281 a0002c0003t0006g0282 a0002c0003t0006g0285 others(3): Show a0002c0003t0006g0281 a0002c0003t0006g0282 a0002c0003t0006g0285 a0002c0003t0018g0284 a0002c0003t0019g0286 a0002c0003t0027g0283	6	302	0.0199	-18	c.42 others(35): Show c.42+2324_*42+2341delTCCTCCCCCGCTCAATTC		GNAS	ENSG00000087460.29	transcript	ENST00000371075.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
GNB5_chr15_52110100_52196392	52136113	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG02293.hp2 others(8): Show HG00099.hp1 HG01168.hp2 HG02293.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0156 a0001c0001t0002 a0001c0005t0156	a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0036 others(8): Show a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0073 a0001c0001t0002g0174 a0001c0005t0156g0261	11	366	0.0301	-18	c.628 others(33): Show c.628-375_628-358delGTGTGTGTGTGTGTGTGT		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	7/12						chr15	TogoVar
GNB5_chr15_52110100_52196392	52185753	TTTATTAT others(11): Show TTTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0137 a0001c0002t0137	a0001c0002t0137g0266 a0001c0002t0137g0266	1	366	0.0027	-18	c.-18 others(35): Show c.-18-1077_-18-1060delTAATAATAATAATAATAA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	1/12						chr15	TogoVar
GNB5_chr15_52110100_52196392	52190778	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(137): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp2 NA19060.hp1 NA19066.hp1 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(74): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0070 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0091 a0001c0001t0092 a0001c0001t0095 a0001c0001t0096 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0118 a0001c0001t0121 a0001c0001t0145 a0001c0001t0177 a0001c0001t0181 a0001c0002t0120 a0001c0002t0206 a0001c0002t0207 a0001c0003t0112 a0001c0003t0123 a0001c0005t0100 a0001c0005t0157 a0002c0007t0039	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0010 others(137): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0003g0078 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0066 a0001c0001t0004g0072 a0001c0001t0004g0075 a0001c0001t0007g0139 a0001c0001t0007g0144 a0001c0001t0007g0148 a0001c0001t0007g0153 a0001c0001t0008g0140 a0001c0001t0008g0142 a0001c0001t0008g0152 a0001c0001t0009g0022 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0060 a0001c0001t0009g0077 a0001c0001t0010g0112 a0001c0001t0010g0135 a0001c0001t0010g0167 a0001c0001t0013g0035 a0001c0001t0013g0049 a0001c0001t0013g0050 a0001c0001t0013g0067 a0001c0001t0015g0143 a0001c0001t0015g0145 a0001c0001t0015g0146 a0001c0001t0018g0133 a0001c0001t0018g0151 a0001c0001t0020g0023 a0001c0001t0020g0080 a0001c0001t0036g0065 a0001c0001t0037g0163 a0001c0001t0038g0115 a0001c0001t0040g0113 a0001c0001t0041g0128 a0001c0001t0043g0007 a0001c0001t0044g0156 a0001c0001t0045g0158 a0001c0001t0047g0127 a0001c0001t0048g0123 a0001c0001t0050g0124 a0001c0001t0051g0120 a0001c0001t0052g0121 a0001c0001t0054g0131 a0001c0001t0055g0126 a0001c0001t0056g0130 a0001c0001t0057g0129 a0001c0001t0059g0125 a0001c0001t0060g0122 a0001c0001t0062g0118 a0001c0001t0063g0132 a0001c0001t0064g0155 a0001c0001t0065g0079 a0001c0001t0066g0164 a0001c0001t0070g0157 a0001c0001t0073g0166 a0001c0001t0074g0162 a0001c0001t0075g0165 a0001c0001t0076g0168 a0001c0001t0077g0159 a0001c0001t0079g0138 a0001c0001t0080g0147 a0001c0001t0082g0154 a0001c0001t0083g0141 a0001c0001t0084g0117 a0001c0001t0086g0161 a0001c0001t0087g0116 a0001c0001t0088g0114 a0001c0001t0091g0149 a0001c0001t0092g0137 a0001c0001t0095g0047 a0001c0001t0096g0076 a0001c0001t0104g0058 a0001c0001t0105g0057 a0001c0001t0106g0071 a0001c0001t0107g0056 a0001c0001t0109g0025 a0001c0001t0110g0009 a0001c0001t0111g0052 a0001c0001t0113g0021 a0001c0001t0114g0160 a0001c0001t0115g0024 a0001c0001t0116g0119 a0001c0001t0118g0032 a0001c0001t0121g0136 a0001c0001t0145g0279 a0001c0001t0177g0362 a0001c0001t0181g0363 a0001c0002t0120g0012 a0001c0002t0206g0178 a0001c0002t0207g0177 a0001c0003t0112g0087 a0001c0003t0123g0364 a0001c0005t0100g0134 a0001c0005t0157g0278 a0002c0007t0039g0150	140	366	0.3825	-18	c.-19 others(33): Show c.-19+526_-19+543delTTTTTTTTTTTTTTTTTT		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	1/12						chr15	TogoVar
GNE_chr9_36209441_36263448	36257802	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01978.hp2 HG01069.hp1 HG01071.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0062 a0001c0001t0011 a0001c0001t0062	a0001c0001t0011g0016 a0001c0001t0011g0018 a0001c0001t0062g0017 a0001c0001t0011g0016 a0001c0001t0011g0018 a0001c0001t0062g0017	3	374	0.0080	-18	c.-43 others(33): Show c.-43+501_-43+518delTTTTTTTTTTTTTTTTTT		GNE	ENSG00000159921.20	transcript	ENST00000642385.2	protein_coding	1/11						chr9	TogoVar
GNE_chr9_36209441_36281978	36257802	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01978.hp2 HG01069.hp1 HG01071.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0061 a0001c0001t0011 a0001c0001t0061	a0001c0001t0011g0208 a0001c0001t0011g0209 a0001c0001t0061g0219 a0001c0001t0011g0208 a0001c0001t0011g0209 a0001c0001t0061g0219	3	356	0.0084	-18	c.52- others(33): Show c.52-8423_52-8406delTTTTTTTTTTTTTTTTTT		GNE	ENSG00000159921.20	transcript	ENST00000396594.8	protein_coding	1/11						chr9	TogoVar
GNE_chr9_36209441_36281978	36274068	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG01993.hp2 others(2): Show HG01081.hp1 HG01243.hp1 HG01993.hp2 HG02148.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019	a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0007g0181 others(2): Show a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0007g0181 a0001c0001t0019g0064 a0001c0001t0019g0065	5	356	0.0140	-18	c.51+ others(33): Show c.51+2808_51+2825delCACACACACACACACACA		GNE	ENSG00000159921.20	transcript	ENST00000396594.8	protein_coding	1/11						chr9	TogoVar
GNG12_chr1_67696475_67838467	67709924	TTATATAT others(11): Show TTATATATATAGTTATATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0012 a0001c0002t0013g0015 a0001c0002t0013g0012 a0001c0002t0013g0015	2	274	0.0073	-18	c.-26 others(35): Show c.-26-2230_-26-2213delTATATAACTATATATATA		GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3						chr1	TogoVar
GNG7_chr19_2506219_2707694	2557219	ACACATGC others(11): Show ACACATGCACACACAGACG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0139 a0001c0001t0095g0139	1	206	0.0049	-18	c.-77 others(35): Show c.-77-2049_-77-2032delCGTCTGTGTGTGCATGTG		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2575556	CACACGCA others(11): Show CACACGCAGGCACACGCAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02886.hp1 others(1): Show HG02559.hp1 HG02818.hp2 HG02886.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0021 a0001c0001t0034 others(1): Show a0001c0001t0019 a0001c0001t0021 a0001c0001t0034 a0001c0001t0075	a0001c0001t0019g0128 a0001c0001t0021g0048 a0001c0001t0034g0036 others(1): Show a0001c0001t0019g0128 a0001c0001t0021g0048 a0001c0001t0034g0036 a0001c0001t0075g0159	4	206	0.0194	-18	c.-77 others(37): Show c.-77-20386_-77-20369delCTGCGTGTGCCTGCGTGT		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2657337	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0111 a0001c0001t0083g0111	1	206	0.0049	-18	c.-13 others(39): Show c.-134-11075_-134-11058delTTTTTTTTTTTTTTTTTT		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2657345	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0061 a0001c0001t0005g0061	1	206	0.0049	-18	c.-13 others(39): Show c.-134-11083_-134-11066delATTTTTTTTTTTTTTTTT		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2657347	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0132 a0001c0001t0019g0132	1	206	0.0049	-18	c.-13 others(39): Show c.-134-11085_-134-11068delATATTTTTTTTTTTTTTT		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2657353	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0007 a0001c0001t0087g0007	1	206	0.0049	-18	c.-13 others(39): Show c.-134-11091_-134-11074delATATATATATTTTTTTTT		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2657355	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0010 a0001c0001t0030g0010	1	206	0.0049	-18	c.-13 others(39): Show c.-134-11093_-134-11076delATATATATATATTTTTTT		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4						chr19	TogoVar
GNPAT_chr1_231236212_231282973	231267637	AGTAACAG others(11): Show AGTAACAGAACTGTAATTT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0052 a0001c0002t0002g0052	1	360	0.0028	-18	c.105 others(33): Show c.1056-40_1056-23delAACAGAACTGTAATTTGT		GNPAT	ENSG00000116906.13	transcript	ENST00000366647.9	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
GNPTAB_chr12_101740499_101835959	101816138	GACTTACG others(11): Show GACTTACGGAGTAAGACCT	G G	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0150 a0001c0003t0003g0150	1	392	0.0026	-18	c.117 others(37): Show c.117+14403_117+14420delAGGTCTTACTCCGTAAGT		GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding	1/20						chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132791050	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0053 a0002c0002t0003 a0002c0002t0053	a0002c0002t0003g0240 a0002c0002t0053g0239 a0002c0002t0003g0240 a0002c0002t0053g0239	2	308	0.0065	-18	c.254 others(35): Show c.2547+148_2547+165delTTTTTTTTTTTTTTTTTT		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	12/23						chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132802367	CGGGGGTG others(11): Show CGGGGGTGCAGGGGGCATG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(60): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01515.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02735.hp1 HG02738.hp2 HG02965.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18956.hp2 NA18959.hp2 NA18967.hp2 NA18977.hp1 NA18979.hp2 NA18991.hp2 NA19004.hp1 NA19006.hp2 NA19010.hp1 NA19065.hp2 NA19077.hp1 NA19082.hp2 NA20805.hp2	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0005 a0007 a0011 a0012 a0013 a0018	a0002c0002 a0003c0004 a0003c0008 others(9): Show a0002c0002 a0003c0004 a0003c0008 a0004c0005 a0004c0036 a0004c0037 a0005c0006 a0007c0016 a0011c0017 a0012c0019 a0013c0035 a0018c0029	a0002c0002t0007 a0002c0002t0051 a0003c0004t0001 others(28): Show a0002c0002t0007 a0002c0002t0051 a0003c0004t0001 a0003c0004t0007 a0003c0004t0008 a0003c0004t0013 a0003c0004t0022 a0003c0004t0025 a0003c0004t0036 a0003c0008t0007 a0003c0008t0013 a0003c0008t0022 a0004c0005t0005 a0004c0005t0023 a0004c0036t0008 a0004c0037t0005 a0005c0006t0001 a0005c0006t0014 a0005c0006t0018 a0005c0006t0043 a0005c0006t0044 a0005c0006t0062 a0005c0006t0063 a0005c0006t0064 a0005c0006t0065 a0005c0006t0081 a0007c0016t0020 a0011c0017t0008 a0012c0019t0038 a0013c0035t0035 a0018c0029t0061	a0002c0002t0007g0236 a0002c0002t0051g0238 a0003c0004t0001g0270 others(60): Show a0002c0002t0007g0236 a0002c0002t0051g0238 a0003c0004t0001g0270 a0003c0004t0001g0279 a0003c0004t0001g0282 a0003c0004t0001g0283 a0003c0004t0007g0266 a0003c0004t0007g0269 a0003c0004t0008g0276 a0003c0004t0008g0278 a0003c0004t0008g0285 a0003c0004t0008g0286 a0003c0004t0008g0287 a0003c0004t0008g0288 a0003c0004t0013g0261 a0003c0004t0013g0268 a0003c0004t0013g0284 a0003c0004t0022g0277 a0003c0004t0025g0280 a0003c0004t0036g0260 a0003c0008t0007g0271 a0003c0008t0007g0272 a0003c0008t0007g0273 a0003c0008t0007g0274 a0003c0008t0007g0275 a0003c0008t0007g0281 a0003c0008t0013g0264 a0003c0008t0022g0265 a0004c0005t0005g0049 a0004c0005t0005g0101 a0004c0005t0005g0247 a0004c0005t0005g0248 a0004c0005t0005g0249 a0004c0005t0005g0250 a0004c0005t0005g0251 a0004c0005t0005g0252 a0004c0005t0005g0255 a0004c0005t0005g0257 a0004c0005t0005g0258 a0004c0005t0005g0259 a0004c0005t0023g0246 a0004c0005t0023g0256 a0004c0036t0008g0263 a0004c0037t0005g0245 a0005c0006t0001g0021 a0005c0006t0014g0018 a0005c0006t0014g0019 a0005c0006t0014g0020 a0005c0006t0018g0023 a0005c0006t0018g0102 a0005c0006t0043g0004 a0005c0006t0044g0005 a0005c0006t0062g0016 a0005c0006t0063g0013 a0005c0006t0064g0022 a0005c0006t0065g0017 a0005c0006t0081g0308 a0007c0016t0020g0253 a0007c0016t0020g0254 a0011c0017t0008g0267 a0012c0019t0038g0024 a0013c0035t0035g0262 a0018c0029t0061g0103	63	308	0.2046	-18	c.159 others(35): Show c.1598-416_1598-399delCATGCCCCCTGCACCCCC		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	7/23						chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132821919	ATCCTCCC others(11): Show ATCCTCCCTCAACACCACG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02015.hp2 HG02027.hp1 others(29): Show HG00423.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02523.hp1 NA18747.hp2 NA18942.hp2 NA18950.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18975.hp1 NA18983.hp2 NA18989.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19006.hp1 NA19010.hp2 NA19057.hp1 NA19058.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19083.hp2 NA19088.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0010 a0015 a0016	a0001c0001 a0001c0024 a0001c0026 others(5): Show a0001c0001 a0001c0024 a0001c0026 a0002c0007 a0004c0005 a0010c0039 a0015c0021 a0016c0032	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0033 a0001c0001t0066 a0001c0001t0069 a0001c0001t0072 a0001c0024t0002 a0001c0026t0001 a0002c0007t0001 a0002c0007t0076 a0004c0005t0005 a0010c0039t0010 a0015c0021t0068 a0016c0032t0001	a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 others(29): Show a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0004g0079 a0001c0001t0010g0082 a0001c0001t0010g0083 a0001c0001t0033g0108 a0001c0001t0066g0031 a0001c0001t0069g0032 a0001c0001t0072g0075 a0001c0024t0002g0100 a0001c0026t0001g0099 a0002c0007t0001g0071 a0002c0007t0076g0076 a0004c0005t0005g0101 a0004c0005t0005g0257 a0010c0039t0010g0033 a0015c0021t0068g0072 a0016c0032t0001g0034	32	308	0.1039	-18	c.133 others(31): Show c.133+59_133+76delCGTGGTGTTGAGGGAGGA		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23						chr12	TogoVar
GOLGA5_chr14_92789305_92844947	92836967	AGGCTGAA others(11): Show AGGCTGAAGCTGGAGAATT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0007 a0001c0018t0007	a0001c0018t0007g0099 a0001c0018t0007g0099	1	390	0.0026	-18	c.205 others(35): Show c.2052-417_2052-400delGCTGAAGCTGGAGAATTG		GOLGA5	ENSG00000066455.13	transcript	ENST00000163416.7	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr14	TogoVar
GOLGA6D_chr15_75277835_75300530	75299360	GCCTGTTA others(11): Show GCCTGTTAGTGCTGGCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	234	0.0043	-18	c.48 others(29): Show c.4886_*4903delCCTGTTAGTGCTGGCTGC		GOLGA6D	ENSG00000140478.17	transcript	ENST00000434739.4	protein_coding					3831		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344643	CCCAGCTC others(11): Show CCCAGCTCCAGCATCCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00408.hp2 HG02056.hp2 others(3): Show HG00099.hp1 HG00408.hp2 HG02056.hp2 HG02615.hp1 HG04204.hp2 NA20905.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0011 a0009c0009t0017 a0009c0009t0003 a0009c0009t0011 a0009c0009t0017	a0009c0009t0003g0035 a0009c0009t0003g0103 a0009c0009t0011g0121 others(1): Show a0009c0009t0003g0035 a0009c0009t0003g0103 a0009c0009t0011g0121 a0009c0009t0017g0034	6	301	0.0199	-18	c.119 others(27): Show c.1199_1216delAGAGGATGCTGGAGCTGG	p.Glu others(13): Show p.Glu400_Leu405del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1316/4452	1199/1569	400/522			chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344656	TCCTCTCC others(11): Show TCCTCTCCAGCTCCCGCAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00558.hp2 HG00621.hp1 HG00621.hp2 others(19): Show HG00558.hp2 HG00621.hp1 HG00621.hp2 HG02027.hp2 HG02040.hp1 HG02132.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18990.hp2 NA19088.hp2	a0005 a0006 a0033 others(1): Show a0005 a0006 a0033 a0049	a0005c0005 a0006c0006 a0033c0032 others(1): Show a0005c0005 a0006c0006 a0033c0032 a0049c0042	a0005c0005t0002 a0005c0005t0013 a0005c0005t0023 others(4): Show a0005c0005t0002 a0005c0005t0013 a0005c0005t0023 a0006c0006t0001 a0006c0006t0014 a0033c0032t0001 a0049c0042t0005	a0005c0005t0002g0004 a0005c0005t0002g0149 a0005c0005t0013g0040 others(7): Show a0005c0005t0002g0004 a0005c0005t0002g0149 a0005c0005t0013g0040 a0005c0005t0013g0134 a0005c0005t0023g0133 a0006c0006t0001g0006 a0006c0006t0001g0073 a0006c0006t0014g0087 a0033c0032t0001g0071 a0049c0042t0005g0106	22	301	0.0731	-18	c.118 others(27): Show c.1186_1203delCTGCGGGAGCTGGAGAGG	p.Leu others(13): Show p.Leu396_Arg401del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1303/4452	1186/1569	396/522			chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82351348	ATTAAGCC others(11): Show ATTAAGCCAAAATACTTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0007	a0007c0008t0007g0010 a0007c0008t0007g0010	1	301	0.0033	-18	c.-19 others(29): Show c.-1991_-1974delACAAGTATTTTGGCTTAA		GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding					1874		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23126097	GGCAGCCA others(11): Show GGCAGCCAATGGGCCTGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0005 a0002c0003t0002g0005	1	204	0.0049	-18	c.26 others(29): Show c.2675_*2692delTGCAGGCCCATTGGCTGC		GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding					968		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129749	CCTCCGCA others(11): Show CCTCCGCATCTTCTCCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00741.hp1 HG01192.hp2 HG02273.hp2 others(4): Show HG00741.hp1 HG01192.hp2 HG02273.hp2 HG02572.hp2 HG03098.hp1 HG03453.hp1 HG04199.hp1	a0015 a0023 a0058 others(2): Show a0015 a0023 a0058 a0063 a0064	a0015c0013 a0023c0021 a0058c0045 others(2): Show a0015c0013 a0023c0021 a0058c0045 a0063c0052 a0064c0057	a0015c0013t0010 a0023c0021t0004 a0023c0021t0023 others(3): Show a0015c0013t0010 a0023c0021t0004 a0023c0021t0023 a0058c0045t0007 a0063c0052t0010 a0064c0057t0024	a0015c0013t0010g0021 a0023c0021t0004g0100 a0023c0021t0023g0098 others(3): Show a0015c0013t0010g0021 a0023c0021t0004g0100 a0023c0021t0023g0098 a0058c0045t0007g0083 a0063c0052t0010g0095 a0064c0057t0024g0101	7	204	0.0343	-18	c.168 others(27): Show c.1686_1703delACAGGAGAAGATGCGGAG	p.Gln others(13): Show p.Gln563_Arg568del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1794/3822	1686/2007	562/668			chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136585	AGGATGGG others(11): Show AGGATGGGTAGGGAGGTGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00621.hp2 HG00735.hp2 others(22): Show HG00323.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01106.hp1 HG01192.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp2 HG02572.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03579.hp2 HG03688.hp2	a0003 a0015 a0016 others(3): Show a0003 a0015 a0016 a0017 a0051 a0052	a0003c0002 a0015c0013 a0016c0014 others(3): Show a0003c0002 a0015c0013 a0016c0014 a0017c0015 a0051c0039 a0052c0040	a0003c0002t0001 a0003c0002t0021 a0015c0013t0010 others(4): Show a0003c0002t0001 a0003c0002t0021 a0015c0013t0010 a0016c0014t0003 a0017c0015t0001 a0051c0039t0015 a0052c0040t0003	a0003c0002t0001g0002 a0003c0002t0001g0019 a0003c0002t0001g0020 others(13): Show a0003c0002t0001g0002 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0065 a0003c0002t0001g0066 a0003c0002t0001g0068 a0003c0002t0001g0069 a0003c0002t0001g0072 a0003c0002t0021g0067 a0015c0013t0010g0021 a0016c0014t0003g0070 a0016c0014t0003g0074 a0017c0015t0001g0073 a0017c0015t0001g0075 a0051c0039t0015g0071 a0052c0040t0003g0064	25	204	0.1226	-18	c.129 others(25): Show c.129_146delCCACCTCCCTACCCATCC	p.His others(11): Show p.His44_Pro49del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	237/3822	129/2007	43/668			chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136696	ATGGGTAG others(11): Show ATGGGTAGGGAGGTGGGGT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19088.hp2 NA19088.hp2	a0026 a0026	a0026c0065 a0026c0065	a0026c0065t0001 a0026c0065t0001	a0026c0065t0001g0109 a0026c0065t0001g0109	1	204	0.0049	-18	c.18_ others(23): Show c.18_35delACCCCACCTCCCTACCCA	p.Gln others(10): Show p.Gln6_Thr11del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	126/3822	18/2007	6/668			chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22459011	ACCCCACC others(11): Show ACCCCACCTCCCTACCCAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp2 HG01258.hp1 HG02027.hp1 others(3): Show HG00738.hp2 HG01258.hp1 HG02027.hp1 HG02040.hp2 HG02155.hp2 HG03017.hp1	a0000 a0041 a0042 others(3): Show a0000 a0041 a0042 a0043 a0044 a0045	a0000c0058 a0041c0054 a0042c0055 others(3): Show a0000c0058 a0041c0054 a0042c0055 a0043c0057 a0044c0059 a0045c0056	a0000c0058t0001 a0041c0054t0003 a0042c0055t0003 others(3): Show a0000c0058t0001 a0041c0054t0003 a0042c0055t0003 a0043c0057t0001 a0044c0059t0001 a0045c0056t0012	a0000c0058t0001g0002 a0041c0054t0003g0058 a0042c0055t0003g0059 others(3): Show a0000c0058t0001g0002 a0041c0054t0003g0058 a0042c0055t0003g0059 a0043c0057t0001g0001 a0044c0059t0001g0001 a0045c0056t0012g0024	6	226	0.0266	-18	c.111 others(25): Show c.111_128delCCACCTCCCTACCCATCC	p.His others(11): Show p.His38_Pro43del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	1/9	202/4401	111/2565	37/854		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L24_chr15_28342851_28363084	28350975	ATCTTCTC others(11): Show ATCTTCTCCTGCTCCCGTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18950.hp2 NA18954.hp2 NA19001.hp2 NA18950.hp2 NA18954.hp2 NA19001.hp2	a0029 a0030 a0031 a0029 a0030 a0031	a0029c0036 a0030c0038 a0031c0037 a0029c0036 a0030c0038 a0031c0037	a0029c0036t0007 a0030c0038t0007 a0031c0037t0009 a0029c0036t0007 a0030c0038t0007 a0031c0037t0009	a0029c0036t0007g0064 a0030c0038t0007g0066 a0031c0037t0009g0065 a0029c0036t0007g0064 a0030c0038t0007g0066 a0031c0037t0009g0065	3	200	0.0150	-18	c.175 others(27): Show c.1757_1774delCACGGGAGCAGGAGAAGA	p.Thr others(13): Show p.Thr586_Lys591del	GOLGA6L24	ENSG00000237850.8	transcript	ENST00000568624.2	protein_coding	8/9	1835/4304	1757/2499	586/832			chr15	TogoVar
GOLGA6L24_chr15_28342851_28363084	28357919	AGGATGGG others(11): Show AGGATGGGTAGGGAGGTGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(108): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01993.hp1 HG01993.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp2 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18967.hp2 NA18968.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18986.hp2 NA18988.hp2 NA18995.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp2 NA19070.hp1 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0006 others(11): Show a0001 a0003 a0006 a0008 a0011 a0013 a0014 a0019 a0039 a0040 a0041 a0042 a0043 a0044	a0001c0001 a0001c0019 a0003c0003 others(16): Show a0001c0001 a0001c0019 a0003c0003 a0003c0039 a0003c0049 a0006c0007 a0006c0041 a0008c0008 a0011c0011 a0013c0014 a0014c0013 a0019c0043 a0019c0047 a0039c0046 a0040c0045 a0041c0040 a0042c0042 a0043c0048 a0044c0044	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0019t0001 a0003c0003t0001 a0003c0003t0002 a0003c0039t0002 a0003c0049t0002 a0006c0007t0005 a0006c0007t0008 a0006c0041t0001 a0008c0008t0001 a0011c0011t0001 a0013c0014t0004 a0014c0013t0002 a0019c0043t0001 a0019c0047t0012 a0039c0046t0001 a0040c0045t0001 a0041c0040t0001 a0042c0042t0004 a0043c0048t0006 a0044c0044t0002	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0020 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0003g0022 a0001c0001t0010g0096 a0001c0019t0001g0074 a0001c0019t0001g0091 a0003c0003t0001g0079 a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0073 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0080 a0003c0003t0002g0082 a0003c0003t0002g0084 a0003c0039t0002g0078 a0003c0049t0002g0106 a0006c0007t0005g0026 a0006c0007t0005g0027 a0006c0007t0005g0107 a0006c0007t0008g0109 a0006c0041t0001g0095 a0008c0008t0001g0007 a0011c0011t0001g0021 a0011c0011t0001g0092 a0011c0011t0001g0093 a0013c0014t0004g0018 a0013c0014t0004g0085 a0014c0013t0002g0019 a0014c0013t0002g0075 a0019c0043t0001g0102 a0019c0047t0012g0110 a0039c0046t0001g0086 a0040c0045t0001g0097 a0041c0040t0001g0072 a0042c0042t0004g0081 a0043c0048t0006g0108 a0044c0044t0002g0083	111	200	0.5550	-18	c.87_ others(24): Show c.87_104delCCACCTCCCTACCCATCC	p.His others(11): Show p.His30_Pro35del	GOLGA6L24	ENSG00000237850.8	transcript	ENST00000568624.2	protein_coding	1/9	165/4304	87/2499	29/832			chr15	TogoVar
GOLGA6L25_chr15_28548568_28568779	28553640	ACCCCACC others(11): Show ACCCCACCTCCCTACCCAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03239.hp1 HG03239.hp1	a0018 a0018	a0018c0014 a0018c0014	a0018c0014t0001 a0018c0014t0001	a0018c0014t0001g0011 a0018c0014t0001g0011	1	98	0.0102	-18	c.69_ others(23): Show c.69_86delCCACCTCCCTACCCATCC	p.His others(11): Show p.His24_Pro29del	GOLGA6L25	ENSG00000227717.5	transcript	ENST00000620691.5	protein_coding	1/9	130/4286	69/2481	23/826		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L26_chr15_23319535_23339196	23323562	GGCAGCCA others(11): Show GGCAGCCAATGGGCCTGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	182	0.0055	-18	c.26 others(29): Show c.2675_*2692delTGCAGGCCCATTGGCTGC		GOLGA6L26	ENSG00000273756.5	transcript	ENST00000618455.5	protein_coding					972		chr15	TogoVar
GOLGA6L26_chr15_23319535_23339196	23334067	AGGATGGG others(11): Show AGGATGGGTAGGGAGGTGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18950.hp1 NA19004.hp1 NA18950.hp1 NA19004.hp1	a0021 a0021	a0021c0021 a0021c0021	a0021c0021t0001 a0021c0021t0001	a0021c0021t0001g0020 a0021c0021t0001g0020	2	182	0.0110	-18	c.51_ others(23): Show c.51_68delCCACCTCCCTACCCATCC	p.His others(11): Show p.His18_Pro23del	GOLGA6L26	ENSG00000273756.5	transcript	ENST00000618455.5	protein_coding	1/9	129/3731	51/1950	17/649			chr15	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)