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
ATP9B_chr18_79064394_79383283	79326166	GTACCCTC others(321): Show GTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTT AGGGTGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTTAGGGTGTCA TCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTAC CCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCCTTCC CCTCACATGGTGTTAGGGTGTCATCTCTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp2 HG01109.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0205 a0002c0002t0002g0206	2	298	0.0067	-328	c.177 others(19): Show c.1774-2946_1774-2619del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AXDND1_chr1_179360971_179559735	179452392	TAGAAAAG others(321): Show TAGAAAAGAAAATCCCGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCGGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02572.hp2 others(12): Show HG01884.hp1 HG02258.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA19030.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0023	a0001c0007 a0002c0023 a0009c0013 others(1): Show a0001c0007 a0002c0023 a0009c0013 a0023c0028	a0001c0007t0001 a0002c0023t0001 a0009c0013t0001 others(1): Show a0001c0007t0001 a0002c0023t0001 a0009c0013t0001 a0023c0028t0001	a0001c0007t0001g0080 a0001c0007t0001g0175 a0001c0007t0001g0183 others(12): Show a0001c0007t0001g0080 a0001c0007t0001g0175 a0001c0007t0001g0183 a0001c0007t0001g0187 a0001c0007t0001g0189 a0001c0007t0001g0190 a0001c0007t0001g0200 a0001c0007t0001g0201 a0001c0007t0001g0202 a0001c0007t0001g0203 a0002c0023t0001g0185 a0002c0023t0001g0186 a0009c0013t0001g0095 a0009c0013t0001g0096 a0023c0028t0001g0188	15	356	0.0421	-328	c.179 others(19): Show c.1798+7204_1798+7531del	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
BBS1_chr11_66505635_66538598	66537667	ACCTGTAA others(321): Show ACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAA AAATACAAAAAATTAGCTTGGCGTGGTGGCAGGCACCTGTAGTCCCAGCT ACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAGCTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAACAAG AGTCTGTCTCAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAA AAATTGTCAGCCAGGCACGGTAGCTCACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG03669.hp2 HG01358.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0016 a0001c0001t0001g0036	2	386	0.0052	-328	c.56 others(11): Show c.5631_*5958del	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding		4070		chr11	TogoVar
BBS9_chr7_33124564_33611069	33363919	TTTCACTA others(321): Show TTTCACTATATTTTTATTTTTTTTTTTATTTTTTATTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp2 others(153): Show HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18967.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18993.hp1 NA18995.hp2 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0013	a0001c0001 a0001c0009 a0001c0010 others(15): Show a0001c0001 a0001c0009 a0001c0010 a0001c0013 a0001c0020 a0001c0021 a0001c0023 a0001c0026 a0002c0002 a0002c0017 a0003c0003 a0004c0004 a0004c0022 a0005c0011 a0005c0012 a0006c0005 a0011c0024 a0013c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0009t0001 a0001c0010t0001 a0001c0013t0010 a0001c0020t0002 a0001c0021t0001 a0001c0023t0001 a0001c0026t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0014 a0002c0002t0019 a0002c0017t0001 a0003c0003t0001 a0004c0004t0001 a0004c0022t0001 a0005c0011t0001 a0005c0012t0007 a0005c0012t0015 a0006c0005t0001 a0006c0005t0007 a0011c0024t0011 a0013c0019t0003	a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 others(153): Show a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0169 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0048 a0001c0001t0002g0112 a0001c0001t0002g0134 a0001c0001t0002g0172 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0004g0014 a0001c0001t0005g0059 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0243 a0001c0001t0007g0228 a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0009g0211 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0010g0170 a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0016g0071 a0001c0001t0017g0226 a0001c0001t0018g0171 a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0010t0001g0084 a0001c0010t0001g0167 a0001c0013t0010g0260 a0001c0020t0002g0069 a0001c0021t0001g0251 a0001c0023t0001g0168 a0001c0026t0001g0068 a0002c0002t0001g0130 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0159 a0002c0002t0001g0179 a0002c0002t0001g0189 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0219 a0002c0002t0001g0224 a0002c0002t0002g0123 a0002c0002t0002g0188 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0012 a0002c0002t0003g0018 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0008 a0002c0002t0004g0011 a0002c0002t0004g0013 a0002c0002t0004g0016 a0002c0002t0004g0019 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0005g0192 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0011g0015 a0002c0002t0011g0017 a0002c0002t0014g0005 a0002c0002t0014g0029 a0002c0002t0019g0043 a0002c0017t0001g0267 a0003c0003t0001g0047 a0003c0003t0001g0060 a0003c0003t0001g0205 a0003c0003t0001g0207 a0003c0003t0001g0208 a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0186 a0004c0004t0001g0187 a0004c0022t0001g0185 a0005c0011t0001g0236 a0005c0011t0001g0238 a0005c0012t0007g0235 a0005c0012t0015g0237 a0006c0005t0001g0140 a0006c0005t0001g0180 a0006c0005t0007g0128 a0006c0005t0007g0139 a0011c0024t0011g0024 a0013c0019t0003g0250	156	268	0.5821	-328	c.169 others(19): Show c.1694-3832_1694-3505del	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf50_chr7_992006_1143247	1128825	CCACCCTG others(321): Show CCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCC ACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCC TGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTG TCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCCGG GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCTGGGCTG GAGTGCAGTGGCGCGATCTCAGCTCATCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	326	0.0031	-328	c.-1- others(15): Show c.-1-1767_-1-1440del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146842982	GCCTGTCC others(321): Show GCCTGTCCCACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAG CCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCAGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02976.hp2 others(2): Show HG02451.hp2 HG02630.hp1 HG02976.hp2 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0003t0020 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0020 a0001c0009t0019 a0001c0012t0004	a0001c0001t0001g0003 a0001c0001t0002g0006 a0001c0003t0020g0017 others(2): Show a0001c0001t0001g0003 a0001c0001t0002g0006 a0001c0003t0020g0017 a0001c0009t0019g0027 a0001c0012t0004g0026	5	40	0.1250	-328	c.402 others(17): Show c.402+3095_402+3422del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL24A1_chr1_85724233_86161772	85940107	TAAAAAGT others(321): Show TAAAAAGTGCCATAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00423.hp2 others(173): Show HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(37): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0027 a0029 a0030 a0031 a0033 a0035 a0037 a0038 a0039 a0040 a0041 a0044 a0045 a0046 a0047 a0049 a0050	a0001c0001 a0001c0066 a0002c0003 others(45): Show a0001c0001 a0001c0066 a0002c0003 a0003c0007 a0003c0016 a0003c0031 a0004c0002 a0005c0004 a0005c0072 a0006c0028 a0006c0047 a0006c0061 a0006c0062 a0007c0014 a0007c0076 a0008c0006 a0009c0008 a0010c0009 a0011c0015 a0012c0012 a0014c0020 a0015c0038 a0016c0021 a0017c0022 a0019c0051 a0020c0059 a0021c0029 a0022c0030 a0023c0025 a0024c0026 a0026c0036 a0027c0035 a0029c0040 a0030c0078 a0031c0043 a0033c0045 a0035c0054 a0037c0046 a0038c0057 a0039c0048 a0040c0050 a0041c0041 a0044c0067 a0045c0068 a0046c0070 a0047c0073 a0049c0074 a0050c0077	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0066t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0008 a0002c0003t0016 a0003c0007t0001 a0003c0007t0002 a0003c0007t0003 a0003c0016t0001 a0003c0016t0005 a0003c0016t0006 a0003c0031t0004 a0004c0002t0001 a0004c0002t0002 a0004c0002t0003 a0004c0002t0004 a0004c0002t0007 a0005c0004t0001 a0005c0004t0002 a0005c0072t0001 a0006c0028t0002 a0006c0028t0003 a0006c0047t0005 a0006c0061t0003 a0006c0062t0001 a0007c0014t0001 a0007c0014t0003 a0007c0014t0017 a0007c0076t0001 a0008c0006t0001 a0008c0006t0002 a0009c0008t0001 a0009c0008t0002 a0009c0008t0014 a0010c0009t0001 a0010c0009t0002 a0010c0009t0003 a0011c0015t0001 a0011c0015t0002 a0012c0012t0001 a0012c0012t0002 a0014c0020t0002 a0015c0038t0002 a0016c0021t0001 a0017c0022t0003 a0017c0022t0011 a0019c0051t0002 a0020c0059t0002 a0021c0029t0001 a0022c0030t0002 a0022c0030t0006 a0023c0025t0004 a0024c0026t0001 a0026c0036t0001 a0027c0035t0015 a0029c0040t0013 a0030c0078t0002 a0031c0043t0004 a0033c0045t0005 a0035c0054t0004 a0037c0046t0006 a0038c0057t0003 a0039c0048t0002 a0040c0050t0001 a0041c0041t0004 a0044c0067t0001 a0045c0068t0003 a0046c0070t0002 a0047c0073t0002 a0049c0074t0003 a0050c0077t0001	a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0099 others(173): Show a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0193 a0001c0001t0002g0092 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0178 a0001c0001t0002g0205 a0001c0001t0002g0219 a0001c0001t0003g0157 a0001c0001t0010g0132 a0001c0001t0010g0142 a0001c0066t0001g0137 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0220 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0003t0002g0141 a0002c0003t0002g0143 a0002c0003t0002g0145 a0002c0003t0002g0146 a0002c0003t0002g0156 a0002c0003t0003g0147 a0002c0003t0003g0210 a0002c0003t0003g0225 a0002c0003t0004g0131 a0002c0003t0004g0216 a0002c0003t0008g0150 a0002c0003t0016g0227 a0003c0007t0001g0075 a0003c0007t0002g0076 a0003c0007t0002g0079 a0003c0007t0002g0080 a0003c0007t0002g0084 a0003c0007t0002g0085 a0003c0007t0002g0088 a0003c0007t0002g0090 a0003c0007t0003g0074 a0003c0016t0001g0170 a0003c0016t0005g0012 a0003c0016t0006g0013 a0003c0031t0004g0065 a0003c0031t0004g0066 a0004c0002t0001g0127 a0004c0002t0001g0130 a0004c0002t0001g0151 a0004c0002t0001g0153 a0004c0002t0001g0154 a0004c0002t0001g0181 a0004c0002t0002g0129 a0004c0002t0002g0140 a0004c0002t0002g0183 a0004c0002t0002g0209 a0004c0002t0002g0214 a0004c0002t0003g0144 a0004c0002t0003g0228 a0004c0002t0003g0229 a0004c0002t0004g0206 a0004c0002t0004g0215 a0004c0002t0007g0001 a0004c0002t0007g0002 a0004c0002t0007g0004 a0005c0004t0001g0039 a0005c0004t0001g0040 a0005c0004t0001g0121 a0005c0004t0001g0176 a0005c0004t0001g0180 a0005c0004t0001g0194 a0005c0004t0001g0230 a0005c0004t0002g0041 a0005c0004t0002g0120 a0005c0004t0002g0179 a0005c0004t0002g0182 a0005c0004t0002g0185 a0005c0004t0002g0187 a0005c0004t0002g0189 a0005c0004t0002g0190 a0005c0072t0001g0191 a0006c0028t0002g0086 a0006c0028t0003g0072 a0006c0047t0005g0010 a0006c0061t0003g0232 a0006c0062t0001g0094 a0007c0014t0001g0203 a0007c0014t0001g0221 a0007c0014t0003g0235 a0007c0014t0017g0238 a0007c0076t0001g0236 a0008c0006t0001g0034 a0008c0006t0001g0048 a0008c0006t0001g0049 a0008c0006t0001g0050 a0008c0006t0001g0054 a0008c0006t0001g0056 a0008c0006t0001g0059 a0008c0006t0002g0047 a0008c0006t0002g0055 a0009c0008t0001g0101 a0009c0008t0002g0102 a0009c0008t0002g0104 a0009c0008t0002g0106 a0009c0008t0002g0109 a0009c0008t0014g0103 a0010c0009t0001g0031 a0010c0009t0001g0036 a0010c0009t0001g0044 a0010c0009t0001g0045 a0010c0009t0002g0053 a0010c0009t0003g0058 a0011c0015t0001g0028 a0011c0015t0001g0030 a0011c0015t0002g0027 a0012c0012t0001g0128 a0012c0012t0002g0032 a0012c0012t0002g0033 a0012c0012t0002g0135 a0014c0020t0002g0171 a0014c0020t0002g0172 a0014c0020t0002g0173 a0015c0038t0002g0023 a0016c0021t0001g0021 a0016c0021t0001g0022 a0017c0022t0003g0017 a0017c0022t0011g0018 a0019c0051t0002g0096 a0020c0059t0002g0073 a0021c0029t0001g0077 a0021c0029t0001g0087 a0022c0030t0002g0081 a0022c0030t0006g0003 a0023c0025t0004g0035 a0023c0025t0004g0234 a0024c0026t0001g0037 a0024c0026t0001g0046 a0026c0036t0001g0024 a0027c0035t0015g0029 a0029c0040t0013g0019 a0030c0078t0002g0237 a0031c0043t0004g0105 a0033c0045t0005g0008 a0035c0054t0004g0097 a0037c0046t0006g0007 a0038c0057t0003g0083 a0039c0048t0002g0051 a0040c0050t0001g0052 a0041c0041t0004g0148 a0044c0067t0001g0175 a0045c0068t0003g0168 a0046c0070t0002g0204 a0047c0073t0002g0177 a0049c0074t0003g0208 a0050c0077t0001g0197	176	238	0.7395	-328	c.256 others(21): Show c.2562+20814_2562+21141del	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	24/59			chr1	TogoVar
CYTH2_chr19_48464369_48487314	48486033	CTGGAACA others(321): Show CTGGAACATTCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA CCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02976.hp1 HG02723.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0022 a0001c0001t0024g0022	2	366	0.0055	-328	c.68 others(11): Show c.6824_*7151del	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding		3720		chr19	TogoVar
DLGAP2_chr8_732628_1713476	1035099	GCTCATCC others(321): Show GCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCC GACCCCGCGTGTCACCGCGAGGGGACTCACACCCTCATCCCGACCCCACG TGTCACCGCGAGTGGACTCACACGCTCATCCCGACCCCGCGTGTCACAGC AAGCGGGTTCACAGCCTCATCCCGACCCTGCGTGTCACCGCGAGTGGATT CACACGCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGCTCACACCCTC ATCCCGACCCCGCATGTCACCGCGAGTGGGTTCACACCCTCATCCCGACC CCGCGTGTCACCGCGAGTGGGTTCACACC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0034 a0001c0002t0022g0034	1	40	0.0250	-328	c.73+ others(19): Show c.73+127204_73+127531del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137566391	GTGACTGT others(321): Show GTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGC TCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCT GTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGT GACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGC TCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCT GTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGT GACTCTGTCTGTGAGGAAGCTCCCCTGGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01978.hp1 HG00438.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0275 a0001c0001t0002g0265 a0001c0001t0002g0275	2	340	0.0059	-328	c.641 others(17): Show c.641-1565_641-1238del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566544	TCTGTCTG others(321): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG02055.hp1 others(7): Show HG01106.hp2 HG01255.hp1 HG02055.hp1 HG02630.hp2 HG02735.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0076 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0199 a0001c0001t0001g0221	10	340	0.0294	-328	c.641 others(17): Show c.641-1718_641-1391del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567630	TGGGTGAC others(321): Show TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGA AGCTCCCCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01168.hp1 HG02273.hp2 others(1): Show HG01074.hp2 HG01168.hp1 HG02273.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0112 a0001c0001t0001g0181 a0001c0001t0002g0261 others(1): Show a0001c0001t0001g0112 a0001c0001t0001g0181 a0001c0001t0002g0261 a0001c0001t0002g0282	4	340	0.0118	-328	c.641 others(17): Show c.641-2804_641-2477del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPYSL4_chr10_132181948_132210759	132191604	GTGGTATC others(321): Show GTGGTATCCAGGCAGGTGAAAGTATGTTCCCAGCTCGTGTGTACACGCTG GTCACGTGGTATCCAGGCAGGTGAAAGTATGTTCCCAGCTCGTGTGTACA CGCTGGTCACGTGGTATCCAGGCAGGTGAAAGTATGTTCCCACCTCTTGT GTACACACTGGTCACGTGGTATCCAGGCAGGTGCAAATAGTTCCCAGCTC GTGTGTACACACTGGTCACGTGGTATCCAGGCAGTTGAAAGTATGTTCCC AGCTCGTGTGTACACGCTGGTCATGTGGTATCCAGGCAGATGAACATAGT TCCCAGCTCGTGTGTACACGCTGGTCACA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG02723.hp1 others(5): Show HG01884.hp1 HG02451.hp2 HG02723.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0009 a0001c0020 a0001c0009 a0001c0020	a0001c0009t0010 a0001c0020t0010 a0001c0009t0010 a0001c0020t0010	a0001c0009t0010g0013 a0001c0009t0010g0188 a0001c0009t0010g0189 others(1): Show a0001c0009t0010g0013 a0001c0009t0010g0188 a0001c0009t0010g0189 a0001c0020t0010g0013	8	418	0.0191	-328	c.128 others(15): Show c.128+900_129-596del	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIPR1_chr2_3183970_3382818	3315770	TACCACCA others(321): Show TACCACCATCACCACCATCCCCATACACACCCCCTACCACCATCCTCACC ACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCACCACCA TCCTCACCACCATCCCCATACACACCCCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	250	0.0040	-328	c.259 others(19): Show c.259+21919_259+22246del	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ERICH1_chr8_659200_736224	675433	CGAGGACA others(321): Show CGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTC GTGAGGACAGAGACGCGGCGGCCCCTCGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18982.hp1 NA19090.hp1 HG00544.hp2 NA18982.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0194 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0194	3	378	0.0079	-328	c.305 others(17): Show c.305-1714_305-1387del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675535	CCCCTCGG others(321): Show CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCC TCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGGCGCGGCGG	C C	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	378	0.0027	-328	c.305 others(17): Show c.305-1816_305-1489del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675680	TGAGGACA others(321): Show TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCG GCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGAC GCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAG AGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCG TGAGGACAGAGACGCGGCGCCCCCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	378	0.0027	-328	c.305 others(17): Show c.305-1961_305-1634del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675814	CGGCGAGG others(321): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGC GGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAG GCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCT CGTGAGGACAGAGACGCGGCGCCCCCTCG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	378	0.0027	-328	c.305 others(17): Show c.305-2095_305-1768del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FAM118A_chr22_45304934_45346955	45327999	TGGAGGCC others(321): Show TGGAGGCCTTTGGCCGGCGGCAGAACAAGCCCATGGAGTCCCTGGACTTG AAGGACAAGACCAAGGTATGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGC GGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTA TGGGCTGGGGGTGCGGGAGGTCTTTGGCCGGCGGCAGAACAAGCCCATGG AGTCCCTGGACTTGAAGGACAAGACCAAGGTATGGGCTGGGGGTGCGGGA GGTCTTTGGCCGGCGGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGG ACAAGACCAAGGTATGGGCTGGGGGTGCG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(225): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18951.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0007 a0001c0009 others(1): Show a0001c0001 a0001c0007 a0001c0009 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0007t0001 a0001c0009t0001 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(167): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0172 a0001c0001t0001g0196 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0338 a0001c0001t0001g0344 a0001c0001t0002g0307 a0001c0001t0002g0333 a0001c0001t0003g0044 a0001c0001t0003g0296 a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0010 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0025 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0290 a0001c0001t0005g0005 a0001c0001t0005g0011 a0001c0001t0005g0036 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0283 a0001c0001t0007g0335 a0001c0001t0007g0339 a0001c0001t0008g0203 a0001c0001t0011g0311 a0001c0001t0013g0171 a0001c0001t0015g0002 a0001c0001t0016g0023 a0001c0001t0017g0204 a0001c0007t0001g0043 a0001c0009t0001g0291 a0006c0008t0001g0014	228	416	0.5481	-328	c.522 others(13): Show c.522+3_522+330del	FAM118A	ENSG00000100376.12	transcript	ENST00000441876.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
FAM83B_chr6_54841771_54950099	54915508	TAGAAACT others(321): Show TAGAAACTCACATTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp2 others(57): Show HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG02027.hp1 HG02109.hp2 HG02132.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03927.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0012 a0002c0003 a0002c0004 others(7): Show a0001c0012 a0002c0003 a0002c0004 a0002c0005 a0002c0009 a0002c0010 a0002c0023 a0002c0028 a0003c0017 a0007c0025	a0001c0012t0002 a0002c0003t0003 a0002c0003t0016 others(18): Show a0001c0012t0002 a0002c0003t0003 a0002c0003t0016 a0002c0003t0026 a0002c0004t0003 a0002c0004t0012 a0002c0004t0020 a0002c0004t0030 a0002c0004t0032 a0002c0004t0033 a0002c0005t0003 a0002c0005t0013 a0002c0005t0018 a0002c0005t0019 a0002c0009t0011 a0002c0009t0029 a0002c0010t0009 a0002c0023t0031 a0002c0028t0009 a0003c0017t0006 a0007c0025t0003	a0001c0012t0002g0127 a0002c0003t0003g0001 a0002c0003t0003g0102 others(56): Show a0001c0012t0002g0127 a0002c0003t0003g0001 a0002c0003t0003g0102 a0002c0003t0003g0108 a0002c0003t0003g0109 a0002c0003t0003g0120 a0002c0003t0003g0123 a0002c0003t0003g0124 a0002c0003t0003g0125 a0002c0003t0003g0126 a0002c0003t0003g0128 a0002c0003t0003g0129 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0135 a0002c0003t0003g0136 a0002c0003t0003g0137 a0002c0003t0003g0165 a0002c0003t0003g0176 a0002c0003t0003g0251 a0002c0003t0003g0253 a0002c0003t0016g0254 a0002c0003t0026g0168 a0002c0004t0003g0142 a0002c0004t0003g0154 a0002c0004t0003g0155 a0002c0004t0003g0243 a0002c0004t0012g0177 a0002c0004t0012g0180 a0002c0004t0012g0219 a0002c0004t0012g0220 a0002c0004t0020g0107 a0002c0004t0020g0134 a0002c0004t0030g0245 a0002c0004t0032g0138 a0002c0004t0033g0152 a0002c0005t0003g0121 a0002c0005t0013g0147 a0002c0005t0013g0202 a0002c0005t0013g0226 a0002c0005t0018g0130 a0002c0005t0018g0225 a0002c0005t0019g0241 a0002c0005t0019g0242 a0002c0009t0011g0164 a0002c0009t0011g0247 a0002c0009t0011g0248 a0002c0009t0011g0249 a0002c0009t0011g0250 a0002c0009t0029g0244 a0002c0010t0009g0006 a0002c0010t0009g0007 a0002c0010t0009g0025 a0002c0010t0009g0149 a0002c0010t0009g0150 a0002c0023t0031g0236 a0002c0028t0009g0189 a0003c0017t0006g0153 a0007c0025t0003g0105	60	272	0.2206	-328	c.445 others(19): Show c.445-10846_445-10519del	FAM83B	ENSG00000168143.9	transcript	ENST00000306858.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAT1_chr4_186582794_186728856	186693362	TGTGGCTG others(321): Show TGTGGCTGGATGAACGAACTGTGTCACAGCACGTGGGAGATGACAGTGGA GGAGTTCTGAGCCTTGGCCCAGCGGATTTGCTGCTTTCCTCGAGCACCCA GAACCCCGAGACCACCATGTAAACGGGTCCAGGACAGGCTGCGGGATGAT CACAGACACAGGGCCTAGGAGCTGCTGCCTGCAGCGAACACCCAGCCACC TCCTGGGAGCAGGGCCCTCGAGCTCAACAGCAACTGATCAAACATGAGTC AGCCCGTGGAAAACAGCCAAGGAAACACCCAGCTGAGCCCAGCCCAAATC GCCCACCCACAGAACGGTGACCCAAATGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(82): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp2 HG01978.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18994.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19058.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19079.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0002 a0005 a0008 others(23): Show a0002 a0005 a0008 a0009 a0011 a0021 a0022 a0023 a0028 a0029 a0030 a0036 a0046 a0047 a0048 a0049 a0050 a0102 a0109 a0110 a0113 a0114 a0116 a0118 a0121 a0123	a0002c0002 a0002c0135 a0002c0140 others(41): Show a0002c0002 a0002c0135 a0002c0140 a0005c0011 a0005c0026 a0005c0151 a0005c0152 a0008c0018 a0008c0055 a0008c0130 a0008c0155 a0008c0156 a0009c0010 a0009c0056 a0009c0158 a0011c0008 a0021c0051 a0021c0136 a0021c0137 a0022c0017 a0023c0019 a0028c0053 a0028c0147 a0029c0133 a0029c0134 a0029c0159 a0030c0025 a0036c0034 a0046c0050 a0047c0145 a0047c0146 a0048c0054 a0049c0052 a0050c0141 a0050c0143 a0102c0115 a0109c0138 a0110c0139 a0113c0154 a0114c0153 a0116c0149 a0118c0157 a0121c0160 a0123c0142	a0002c0002t0007 a0002c0002t0009 a0002c0002t0011 others(53): Show a0002c0002t0007 a0002c0002t0009 a0002c0002t0011 a0002c0002t0012 a0002c0002t0021 a0002c0135t0011 a0002c0140t0011 a0005c0011t0017 a0005c0011t0035 a0005c0026t0006 a0005c0151t0006 a0005c0152t0006 a0008c0018t0020 a0008c0018t0033 a0008c0055t0011 a0008c0130t0011 a0008c0155t0016 a0008c0156t0011 a0009c0010t0007 a0009c0010t0010 a0009c0056t0006 a0009c0158t0010 a0011c0008t0001 a0021c0051t0010 a0021c0136t0009 a0021c0137t0020 a0022c0017t0007 a0022c0017t0010 a0023c0019t0007 a0023c0019t0010 a0028c0053t0009 a0028c0053t0021 a0028c0147t0009 a0029c0133t0011 a0029c0134t0011 a0029c0159t0006 a0030c0025t0016 a0030c0025t0034 a0036c0034t0015 a0046c0050t0012 a0047c0145t0006 a0047c0146t0006 a0048c0054t0030 a0049c0052t0051 a0049c0052t0059 a0050c0141t0012 a0050c0143t0034 a0102c0115t0002 a0109c0138t0007 a0110c0139t0009 a0113c0154t0046 a0114c0153t0042 a0116c0149t0016 a0118c0157t0045 a0121c0160t0049 a0123c0142t0009	a0002c0002t0007g0308 a0002c0002t0009g0294 a0002c0002t0009g0295 others(82): Show a0002c0002t0007g0308 a0002c0002t0009g0294 a0002c0002t0009g0295 a0002c0002t0009g0300 a0002c0002t0009g0302 a0002c0002t0009g0303 a0002c0002t0009g0305 a0002c0002t0011g0031 a0002c0002t0011g0070 a0002c0002t0012g0137 a0002c0002t0012g0139 a0002c0002t0012g0144 a0002c0002t0012g0146 a0002c0002t0012g0147 a0002c0002t0012g0180 a0002c0002t0021g0334 a0002c0002t0021g0335 a0002c0135t0011g0064 a0002c0140t0011g0071 a0005c0011t0017g0069 a0005c0011t0017g0084 a0005c0011t0035g0324 a0005c0026t0006g0067 a0005c0026t0006g0087 a0005c0151t0006g0027 a0005c0152t0006g0026 a0008c0018t0020g0141 a0008c0018t0020g0280 a0008c0018t0033g0298 a0008c0018t0033g0299 a0008c0055t0011g0074 a0008c0130t0011g0025 a0008c0155t0016g0140 a0008c0156t0011g0017 a0009c0010t0007g0297 a0009c0010t0007g0311 a0009c0010t0007g0317 a0009c0010t0007g0318 a0009c0010t0010g0183 a0009c0010t0010g0184 a0009c0056t0006g0066 a0009c0056t0006g0072 a0009c0158t0010g0185 a0011c0008t0001g0122 a0021c0051t0010g0150 a0021c0051t0010g0151 a0021c0136t0009g0296 a0021c0137t0020g0132 a0022c0017t0007g0293 a0022c0017t0007g0313 a0022c0017t0010g0186 a0022c0017t0010g0283 a0023c0019t0007g0309 a0023c0019t0007g0310 a0023c0019t0010g0148 a0023c0019t0010g0149 a0028c0053t0009g0307 a0028c0053t0021g0336 a0028c0147t0009g0304 a0029c0133t0011g0110 a0029c0134t0011g0028 a0029c0159t0006g0068 a0030c0025t0016g0142 a0030c0025t0016g0143 a0030c0025t0034g0291 a0036c0034t0015g0073 a0046c0050t0012g0179 a0046c0050t0012g0194 a0047c0145t0006g0011 a0047c0146t0006g0030 a0048c0054t0030g0016 a0048c0054t0030g0109 a0049c0052t0051g0136 a0049c0052t0059g0319 a0050c0141t0012g0138 a0050c0143t0034g0289 a0102c0115t0002g0199 a0109c0138t0007g0301 a0110c0139t0009g0333 a0113c0154t0046g0065 a0114c0153t0042g0098 a0116c0149t0016g0145 a0118c0157t0045g0021 a0121c0160t0049g0119 a0123c0142t0009g0306	85	338	0.2515	-328	c.326 others(21): Show c.3265+12873_3265+13200del	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	2/26			chr4	TogoVar
GASK1A_chr3_42974311_43062715	42989600	TACCTGCT others(321): Show TACCTGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0005 a0001c0012 others(22): Show a0001c0001 a0001c0005 a0001c0012 a0002c0002 a0002c0006 a0002c0007 a0003c0003 a0003c0011 a0003c0023 a0004c0004 a0004c0010 a0004c0015 a0004c0016 a0005c0008 a0006c0014 a0007c0013 a0008c0025 a0009c0022 a0010c0024 a0011c0020 a0012c0019 a0013c0018 a0014c0021 a0015c0026 a0016c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0005t0001 a0001c0005t0004 a0001c0005t0012 a0001c0005t0014 a0001c0005t0020 a0001c0012t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0017 a0002c0002t0019 a0002c0002t0024 a0002c0002t0025 a0002c0006t0002 a0002c0006t0005 a0002c0006t0007 a0002c0006t0015 a0002c0006t0023 a0002c0007t0002 a0002c0007t0005 a0003c0003t0002 a0003c0011t0010 a0003c0023t0002 a0004c0004t0001 a0004c0004t0004 a0004c0004t0006 a0004c0010t0001 a0004c0010t0004 a0004c0015t0001 a0004c0015t0014 a0004c0016t0001 a0004c0016t0004 a0005c0008t0002 a0005c0008t0003 a0006c0014t0002 a0007c0013t0004 a0008c0025t0002 a0009c0022t0011 a0010c0024t0002 a0011c0020t0001 a0012c0019t0002 a0013c0018t0001 a0014c0021t0001 a0015c0026t0011 a0016c0017t0003	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(299): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0220 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0002g0154 a0001c0001t0002g0191 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0008g0172 a0001c0001t0008g0173 a0001c0001t0008g0174 a0001c0001t0008g0175 a0001c0001t0013g0061 a0001c0001t0013g0089 a0001c0001t0016g0126 a0001c0001t0018g0109 a0001c0001t0021g0086 a0001c0005t0001g0003 a0001c0005t0001g0004 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0005t0001g0042 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0001g0047 a0001c0005t0001g0048 a0001c0005t0001g0049 a0001c0005t0001g0050 a0001c0005t0001g0051 a0001c0005t0001g0052 a0001c0005t0001g0230 a0001c0005t0001g0248 a0001c0005t0001g0267 a0001c0005t0004g0307 a0001c0005t0012g0018 a0001c0005t0014g0193 a0001c0005t0020g0016 a0001c0012t0001g0045 a0001c0012t0001g0046 a0002c0002t0001g0005 a0002c0002t0002g0015 a0002c0002t0002g0025 a0002c0002t0002g0163 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0176 a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0237 a0002c0002t0002g0241 a0002c0002t0003g0006 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0082 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0003g0090 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0101 a0002c0002t0003g0106 a0002c0002t0003g0115 a0002c0002t0003g0116 a0002c0002t0003g0117 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0153 a0002c0002t0003g0158 a0002c0002t0003g0169 a0002c0002t0003g0224 a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0003g0314 a0002c0002t0003g0315 a0002c0002t0004g0293 a0002c0002t0005g0093 a0002c0002t0009g0306 a0002c0002t0009g0308 a0002c0002t0009g0309 a0002c0002t0009g0310 a0002c0002t0017g0223 a0002c0002t0019g0091 a0002c0002t0024g0299 a0002c0002t0025g0294 a0002c0006t0002g0164 a0002c0006t0002g0200 a0002c0006t0002g0203 a0002c0006t0002g0204 a0002c0006t0002g0221 a0002c0006t0002g0277 a0002c0006t0005g0199 a0002c0006t0007g0161 a0002c0006t0007g0162 a0002c0006t0007g0263 a0002c0006t0007g0265 a0002c0006t0015g0280 a0002c0006t0015g0281 a0002c0006t0023g0271 a0002c0007t0002g0279 a0002c0007t0005g0186 a0003c0003t0002g0001 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0030 a0003c0003t0002g0064 a0003c0003t0002g0083 a0003c0003t0002g0102 a0003c0003t0002g0119 a0003c0003t0002g0134 a0003c0003t0002g0155 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0183 a0003c0003t0002g0185 a0003c0003t0002g0188 a0003c0003t0002g0192 a0003c0003t0002g0197 a0003c0003t0002g0198 a0003c0003t0002g0201 a0003c0003t0002g0202 a0003c0003t0002g0205 a0003c0003t0002g0209 a0003c0003t0002g0210 a0003c0003t0002g0211 a0003c0003t0002g0212 a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0215 a0003c0003t0002g0216 a0003c0003t0002g0217 a0003c0003t0002g0218 a0003c0003t0002g0219 a0003c0003t0002g0225 a0003c0003t0002g0226 a0003c0003t0002g0227 a0003c0003t0002g0228 a0003c0003t0002g0229 a0003c0003t0002g0242 a0003c0011t0010g0259 a0003c0011t0010g0261 a0003c0011t0010g0262 a0003c0023t0002g0150 a0004c0004t0001g0027 a0004c0004t0001g0054 a0004c0004t0001g0080 a0004c0004t0001g0092 a0004c0004t0001g0207 a0004c0004t0001g0222 a0004c0004t0001g0269 a0004c0004t0001g0270 a0004c0004t0004g0284 a0004c0004t0004g0285 a0004c0004t0004g0286 a0004c0004t0004g0287 a0004c0004t0004g0289 a0004c0004t0004g0292 a0004c0004t0004g0295 a0004c0004t0004g0296 a0004c0004t0004g0297 a0004c0004t0004g0298 a0004c0004t0004g0300 a0004c0004t0004g0301 a0004c0004t0004g0302 a0004c0004t0004g0303 a0004c0004t0006g0002 a0004c0004t0006g0024 a0004c0004t0006g0274 a0004c0004t0006g0275 a0004c0004t0006g0276 a0004c0010t0001g0264 a0004c0010t0004g0304 a0004c0015t0001g0278 a0004c0015t0014g0258 a0004c0016t0001g0081 a0004c0016t0004g0283 a0005c0008t0002g0021 a0005c0008t0002g0111 a0005c0008t0002g0247 a0005c0008t0003g0009 a0005c0008t0003g0127 a0006c0014t0002g0098 a0006c0014t0002g0260 a0007c0013t0004g0288 a0007c0013t0004g0305 a0008c0025t0002g0015 a0009c0022t0011g0282 a0010c0024t0002g0238 a0011c0020t0001g0132 a0012c0019t0002g0122 a0013c0018t0001g0137 a0014c0021t0001g0118 a0015c0026t0011g0311 a0016c0017t0003g0195	325	342	0.9503	-328	c.3+9 others(14): Show c.3+9970_3+10297del	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
GGCT_chr7_30491621_30509829	30495967	TCTATCCT others(321): Show TCTATCCTAAGCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(101): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00738.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03710.hp1 HG04199.hp1 HG06807.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18956.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18981.hp1 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18991.hp1 NA18995.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0065 others(63): Show a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0065 a0001c0001t0001g0136 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0122 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0179 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0198 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0018 a0001c0001t0003g0028 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0048 a0001c0001t0003g0076 a0001c0001t0003g0090 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0089 a0001c0001t0004g0092 a0001c0001t0004g0103 a0001c0001t0004g0106 a0001c0001t0005g0020 a0001c0001t0005g0056 a0001c0001t0005g0121 a0001c0001t0006g0057 a0001c0001t0006g0119 a0001c0001t0007g0137 a0001c0001t0007g0138 a0001c0001t0007g0190 a0001c0001t0007g0200 a0001c0001t0007g0201 a0001c0001t0008g0054 a0001c0001t0008g0107	104	444	0.2342	-328	c.79 others(10): Show c.797_*1124del	GGCT	ENSG00000006625.18	transcript	ENST00000275428.9	protein_coding		653		chr7	TogoVar
GMEB2_chr20_63582605_63632101	63626275	CCCCTGCG others(321): Show CCCCTGCGGGTCGGGTGCCTGCGGGGTGGTCCCTATGGGTCGCGTCCCTG CGGGTCGGGTGCCTGCGGGGTGGCCCCTGGGAATCGCGTCCCTGCGGGTC GGGTGCCTGCGGGGTGGCCCCTGGGGATCGCGTCCCTGCGGGTCGGGTGC CTGCGGGGTGGCCCCTGGGGATCGCGTCCCTGCGGGTCGGGTGCCTGCGG GGTGGTCCTTGTGGGTCGCGTCCCTGTGGGGTGGTCCCTGTGGGTCGCGT CCCTGTGGGGTGGCCCCTGCGGGTCGCGTGGTGGCCCCTGCGGGTCGGGT GCCTGCGGGGTGGTCCCTGTGGGTCGCGT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0269 a0001c0002t0003g0269	1	330	0.0030	-328	c.-58 others(15): Show c.-58+353_-58+680del	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	1/9			chr20	TogoVar
GPHB5_chr14_63307835_63323935	63320456	ATGACAAT others(321): Show ATGACAATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACAGTGAAACCCCGTCTCTACTAAAACTACAAAAAATAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00609.hp1 others(110): Show HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01943.hp2 HG01978.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18949.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA19006.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0005c0006t0001g0072	113	422	0.2678	-328	c.-19 others(11): Show c.-1962_-1635del	GPHB5	ENSG00000179600.4	transcript	ENST00000621500.2	protein_coding		1522		chr14	TogoVar
GRTP1_chr13_113319163_113369130	113346556	AGACCCAG others(321): Show AGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGT GCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGA GGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAG ACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGG CTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGG ACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAG ACCCGGGAGGACCTCTGTGCCTGACAGTG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0258 a0001c0001t0001g0238 a0001c0001t0001g0258	2	288	0.0069	-328	c.466 others(17): Show c.466-1925_466-1598del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
HPS3_chr3_149124638_149178732	149126585	TAAGATGC others(321): Show TAAGATGCAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(307): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0013 a0001c0014 a0001c0015 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0002c0007 a0003c0009 a0004c0008 a0007c0026 a0008c0017 a0009c0016 a0010c0020 a0011c0025 a0012c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(79): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0021 a0001c0001t0038 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0017 a0001c0002t0021 a0001c0002t0027 a0001c0002t0029 a0001c0002t0030 a0001c0002t0032 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0009 a0001c0003t0015 a0001c0003t0018 a0001c0003t0020 a0001c0003t0022 a0001c0004t0002 a0001c0004t0025 a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 a0001c0005t0006 a0001c0005t0010 a0001c0005t0012 a0001c0005t0014 a0001c0005t0015 a0001c0005t0018 a0001c0005t0019 a0001c0005t0023 a0001c0005t0026 a0001c0005t0028 a0001c0005t0031 a0001c0005t0033 a0001c0005t0036 a0001c0005t0040 a0001c0006t0001 a0001c0006t0011 a0001c0013t0001 a0001c0014t0009 a0001c0015t0001 a0001c0018t0001 a0001c0019t0014 a0001c0021t0002 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0002c0007t0003 a0002c0007t0005 a0003c0009t0003 a0004c0008t0001 a0007c0026t0005 a0008c0017t0001 a0009c0016t0039 a0010c0020t0024 a0011c0025t0001 a0012c0027t0013	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 others(264): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0002g0034 a0001c0001t0002g0207 a0001c0001t0002g0214 a0001c0001t0002g0231 a0001c0001t0003g0035 a0001c0001t0003g0065 a0001c0001t0004g0014 a0001c0001t0004g0025 a0001c0001t0004g0169 a0001c0001t0004g0191 a0001c0001t0004g0202 a0001c0001t0004g0206 a0001c0001t0005g0001 a0001c0001t0005g0014 a0001c0001t0005g0031 a0001c0001t0005g0034 a0001c0001t0005g0192 a0001c0001t0005g0233 a0001c0001t0006g0203 a0001c0001t0007g0001 a0001c0001t0007g0014 a0001c0001t0007g0130 a0001c0001t0007g0222 a0001c0001t0011g0213 a0001c0001t0021g0001 a0001c0001t0038g0001 a0001c0002t0001g0047 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0138 a0001c0002t0001g0283 a0001c0002t0002g0055 a0001c0002t0002g0161 a0001c0002t0002g0217 a0001c0002t0003g0003 a0001c0002t0003g0005 a0001c0002t0003g0024 a0001c0002t0003g0026 a0001c0002t0003g0029 a0001c0002t0003g0137 a0001c0002t0003g0149 a0001c0002t0003g0151 a0001c0002t0003g0154 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0163 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0284 a0001c0002t0004g0128 a0001c0002t0004g0193 a0001c0002t0006g0044 a0001c0002t0006g0146 a0001c0002t0006g0147 a0001c0002t0006g0148 a0001c0002t0006g0155 a0001c0002t0006g0156 a0001c0002t0006g0157 a0001c0002t0008g0048 a0001c0002t0008g0049 a0001c0002t0008g0051 a0001c0002t0008g0056 a0001c0002t0008g0057 a0001c0002t0008g0058 a0001c0002t0008g0060 a0001c0002t0008g0061 a0001c0002t0008g0183 a0001c0002t0008g0184 a0001c0002t0009g0028 a0001c0002t0009g0153 a0001c0002t0009g0158 a0001c0002t0010g0041 a0001c0002t0010g0042 a0001c0002t0010g0043 a0001c0002t0010g0046 a0001c0002t0011g0285 a0001c0002t0012g0127 a0001c0002t0013g0009 a0001c0002t0016g0027 a0001c0002t0016g0029 a0001c0002t0016g0176 a0001c0002t0017g0050 a0001c0002t0017g0054 a0001c0002t0017g0059 a0001c0002t0021g0164 a0001c0002t0027g0119 a0001c0002t0029g0066 a0001c0002t0030g0143 a0001c0002t0032g0126 a0001c0002t0034g0045 a0001c0002t0035g0064 a0001c0002t0037g0027 a0001c0003t0001g0004 a0001c0003t0001g0006 a0001c0003t0001g0012 a0001c0003t0001g0037 a0001c0003t0001g0040 a0001c0003t0001g0152 a0001c0003t0001g0238 a0001c0003t0001g0241 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0278 a0001c0003t0001g0298 a0001c0003t0002g0239 a0001c0003t0002g0249 a0001c0003t0002g0250 a0001c0003t0002g0281 a0001c0003t0002g0282 a0001c0003t0003g0245 a0001c0003t0003g0301 a0001c0003t0004g0004 a0001c0003t0004g0234 a0001c0003t0004g0240 a0001c0003t0004g0246 a0001c0003t0004g0259 a0001c0003t0004g0265 a0001c0003t0004g0279 a0001c0003t0005g0006 a0001c0003t0007g0006 a0001c0003t0007g0039 a0001c0003t0007g0040 a0001c0003t0007g0172 a0001c0003t0007g0297 a0001c0003t0007g0299 a0001c0003t0007g0300 a0001c0003t0009g0038 a0001c0003t0009g0226 a0001c0003t0009g0268 a0001c0003t0009g0273 a0001c0003t0009g0276 a0001c0003t0015g0063 a0001c0003t0018g0068 a0001c0003t0020g0038 a0001c0003t0020g0275 a0001c0003t0022g0272 a0001c0003t0022g0277 a0001c0004t0002g0235 a0001c0004t0025g0069 a0001c0005t0001g0280 a0001c0005t0003g0242 a0001c0005t0003g0286 a0001c0005t0005g0135 a0001c0005t0006g0023 a0001c0005t0006g0134 a0001c0005t0006g0291 a0001c0005t0010g0289 a0001c0005t0012g0016 a0001c0005t0012g0290 a0001c0005t0012g0293 a0001c0005t0014g0016 a0001c0005t0014g0292 a0001c0005t0015g0295 a0001c0005t0015g0296 a0001c0005t0018g0071 a0001c0005t0019g0132 a0001c0005t0019g0133 a0001c0005t0023g0073 a0001c0005t0026g0070 a0001c0005t0028g0016 a0001c0005t0031g0287 a0001c0005t0033g0023 a0001c0005t0036g0294 a0001c0005t0040g0288 a0001c0006t0001g0141 a0001c0006t0001g0142 a0001c0006t0011g0139 a0001c0006t0011g0140 a0001c0006t0011g0144 a0001c0013t0001g0223 a0001c0014t0009g0274 a0001c0015t0001g0211 a0001c0018t0001g0062 a0001c0019t0014g0302 a0001c0021t0002g0255 a0001c0022t0001g0006 a0001c0023t0001g0006 a0001c0024t0001g0001 a0002c0007t0003g0017 a0002c0007t0005g0078 a0002c0007t0005g0236 a0003c0009t0003g0003 a0003c0009t0003g0165 a0004c0008t0001g0036 a0004c0008t0001g0237 a0007c0026t0005g0001 a0008c0017t0001g0204 a0009c0016t0039g0136 a0010c0020t0024g0072 a0011c0025t0001g0271 a0012c0027t0013g0009	310	392	0.7908	-328	c.-31 others(11): Show c.-3138_-2811del	HPS3	ENSG00000163755.9	transcript	ENST00000296051.7	protein_coding		3052		chr3	TogoVar
IL3RA_chrX_1331785_1387689	1365872	GGGTGAGC others(321): Show GGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTG AGCGGGGTGAGCGGGGTGCGGGGTGCGCGGTGCGCGGGGTGAGCGGGGTG CGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCG GGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGC GCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGG GTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAG CGGGGTGCGCGGGGTGCGCGGCGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	115	0.0087	-328	c.874 others(15): Show c.874+623_874+950del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
LMTK3_chr19_48480271_48516835	48486033	CTGGAACA others(321): Show CTGGAACATTCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA CCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp1 HG02723.hp2 HG02976.hp1	a0000 a0002 a0000 a0002	a0000c0005 a0002c0028 a0000c0005 a0002c0028	a0000c0005t0003 a0002c0028t0003 a0000c0005t0003 a0002c0028t0003	a0000c0005t0003g0270 a0002c0028t0003g0269 a0000c0005t0003g0270 a0002c0028t0003g0269	2	314	0.0064	-328	c.436 others(17): Show c.4367-572_4367-245del	LMTK3	ENSG00000142235.13	transcript	ENST00000600059.6	protein_coding	14/14			chr19	TogoVar
MEF2C_chr5_88712117_88888184	88747321	TTTTTTTT others(321): Show TTTTTTTTACTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(94): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01099.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG03041.hp2 HG03239.hp1 HG03490.hp2 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18941.hp1 NA18945.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19057.hp2 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp2 NA19082.hp2 NA19085.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0190 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0002g0003 a0001c0001t0003g0010 a0001c0001t0003g0025 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0009g0175 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0179 a0001c0001t0012g0057 a0001c0001t0012g0138 a0001c0001t0012g0151 a0001c0001t0013g0144 a0001c0001t0013g0145 a0001c0001t0013g0156 a0001c0001t0018g0119 a0001c0001t0028g0170 a0001c0001t0031g0167 a0001c0001t0032g0130 a0001c0001t0033g0060 a0001c0001t0037g0236	97	302	0.3212	-328	c.637 others(17): Show c.637+1421_637+1748del	MEF2C	ENSG00000081189.17	transcript	ENST00000504921.7	protein_coding	6/10			chr5	TogoVar
MSRA_chr8_10049292_10433891	10358552	GCAGCATT others(321): Show GCAGCATTAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02647.hp1 others(1): Show HG02258.hp2 HG02486.hp2 HG02647.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0031 a0001c0001t0004g0042 a0001c0001t0004g0068 others(1): Show a0001c0001t0004g0031 a0001c0001t0004g0042 a0001c0001t0004g0068 a0001c0001t0007g0050	4	286	0.0140	-328	c.543 others(19): Show c.543+38579_543+38906del	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEU4_chr2_241804193_241822413	241805678	CCTCAGCC others(321): Show CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCT CAGCCCAAGGGACCTAGGCAGGCCACCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0004 a0001c0002t0006g0004	1	319	0.0031	-328	c.-35 others(11): Show c.-3599_-3272del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3514		chr2	TogoVar
NKD2_chr5_1003802_1043943	1022873	AGTGGGTG others(321): Show AGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGT CCCAGCCCGTTGTCCCTGCTCTTCCCACCTGCTGTGGGCGTCTCAGCCCG TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCGTTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCATCCCA GCCCATTGTCCCTGCTCTTCCCACCCTCT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	319	0.0031	-328	c.142 others(17): Show c.142-9273_142-8946del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1022890	TTTGTCCC others(321): Show TTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCCT GCTCTTCCCACCTGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGT GGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTC AGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTG TCCCTGCTCTTCCCACCCGCTGTGGGCATCCCAGCCCATTGTCCCTGCTC TTCCCACCCTCTGTGGGCGTCTCAGCCCA	T T	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0095	1	319	0.0031	-328	c.142 others(17): Show c.142-9240_142-8913del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024530	ATTGTCCC others(321): Show ATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACTCTCTGTGGGCATCCCAGCCCATTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGT GGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTC AGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTG TCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTC TTCCCACTCTCTGTGGGCGTCTCAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	-328	c.142 others(17): Show c.142-7588_142-7261del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025464	TCTCAGCC others(321): Show TCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCC GTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCGTTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGT GGGTGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCC AGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTG TCCCTGCTCTTCCCACCCTCTGTGGGTGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01261.hp2 others(21): Show HG00140.hp2 HG00408.hp1 HG01261.hp2 HG01515.hp2 HG01891.hp1 HG01978.hp1 HG02132.hp1 HG02145.hp2 HG02258.hp2 HG02622.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp2 HG03453.hp2 HG03579.hp2 HG03834.hp1 HG03927.hp1 HG04228.hp1 NA18965.hp1 NA19009.hp2 NA19012.hp1 NA19054.hp1 NA19057.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0036 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0126 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0003g0013 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0005g0081 a0001c0001t0006g0265 a0001c0001t0012g0123 a0001c0001t0014g0149 a0001c0012t0001g0012	24	319	0.0752	-328	c.142 others(17): Show c.142-6686_142-6359del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
OR2L2_chr1_248025070_248047305	248044506	TAAAAACG others(321): Show TAAAAACGCCTTCCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAAACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00621.hp1 others(178): Show HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0006 a0007 a0009	a0002c0002 a0002c0007 a0002c0008 others(7): Show a0002c0002 a0002c0007 a0002c0008 a0002c0012 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0007c0009 a0009c0010	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(26): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0016 a0002c0002t0017 a0002c0002t0021 a0002c0002t0024 a0002c0002t0029 a0002c0002t0030 a0002c0002t0036 a0002c0002t0037 a0002c0007t0011 a0002c0007t0019 a0002c0008t0006 a0002c0012t0002 a0003c0003t0007 a0003c0003t0010 a0003c0003t0018 a0003c0003t0020 a0004c0004t0012 a0004c0004t0013 a0005c0005t0003 a0006c0006t0009 a0007c0009t0004 a0007c0009t0034 a0009c0010t0003	a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0008 others(48): Show a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0015 a0002c0002t0002g0023 a0002c0002t0002g0055 a0002c0002t0003g0004 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0042 a0002c0002t0003g0053 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0062 a0002c0002t0004g0005 a0002c0002t0004g0074 a0002c0002t0004g0077 a0002c0002t0005g0006 a0002c0002t0005g0030 a0002c0002t0006g0003 a0002c0002t0008g0003 a0002c0002t0008g0014 a0002c0002t0016g0008 a0002c0002t0017g0005 a0002c0002t0021g0007 a0002c0002t0024g0004 a0002c0002t0029g0006 a0002c0002t0030g0003 a0002c0002t0036g0024 a0002c0002t0037g0024 a0002c0007t0011g0016 a0002c0007t0019g0043 a0002c0008t0006g0003 a0002c0012t0002g0051 a0003c0003t0007g0010 a0003c0003t0007g0061 a0003c0003t0010g0025 a0003c0003t0010g0026 a0003c0003t0018g0025 a0003c0003t0020g0075 a0004c0004t0012g0021 a0004c0004t0012g0041 a0004c0004t0013g0020 a0004c0004t0013g0040 a0005c0005t0003g0004 a0005c0005t0003g0052 a0006c0006t0009g0012 a0007c0009t0004g0031 a0007c0009t0034g0031 a0009c0010t0003g0004	181	398	0.4548	-328	c.53 others(11): Show c.5301_*5628del	OR2L2	ENSG00000203663.4	transcript	ENST00000641771.1	protein_coding		2202		chr1	TogoVar
OR2L3_chr1_248041836_248068407	248044506	TAAAAACG others(321): Show TAAAAACGCCTTCCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAAACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00642.hp2 others(174): Show HG00438.hp1 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0009 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0018 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0013 a0003c0003t0005 a0003c0003t0017 a0004c0004t0006 a0004c0009t0008 a0006c0006t0008 a0006c0006t0019 a0006c0006t0020	a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0049 others(71): Show a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0002g0005 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0005g0075 a0001c0001t0011g0048 a0001c0001t0018g0079 a0002c0002t0003g0004 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0012 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0030 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0004g0003 a0002c0002t0004g0014 a0002c0002t0004g0029 a0002c0002t0004g0032 a0002c0002t0004g0051 a0002c0002t0004g0052 a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0002t0004g0056 a0002c0002t0004g0057 a0002c0002t0004g0067 a0002c0002t0004g0071 a0002c0002t0004g0085 a0002c0002t0004g0087 a0002c0002t0004g0120 a0002c0002t0006g0017 a0002c0002t0006g0031 a0002c0002t0006g0078 a0002c0002t0006g0088 a0002c0002t0013g0004 a0003c0003t0005g0010 a0003c0003t0005g0021 a0003c0003t0005g0022 a0003c0003t0005g0023 a0003c0003t0005g0024 a0003c0003t0005g0025 a0003c0003t0005g0045 a0003c0003t0005g0047 a0003c0003t0005g0058 a0003c0003t0005g0072 a0003c0003t0005g0080 a0003c0003t0005g0117 a0003c0003t0017g0116 a0004c0004t0006g0016 a0004c0004t0006g0083 a0004c0004t0006g0086 a0004c0009t0008g0082 a0004c0009t0008g0119 a0006c0006t0008g0015 a0006c0006t0019g0118 a0006c0006t0020g0084	177	398	0.4447	-328	c.-23 others(11): Show c.-2395_-2068del	OR2L3	ENSG00000198128.4	transcript	ENST00000359959.4	protein_coding		2329		chr1	TogoVar
OR5D3P_chr11_55718776_55734621	55721471	TCTGACAT others(321): Show TCTGACATCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG00642.hp2 others(36): Show HG00140.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp2 HG01346.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01981.hp1 HG02055.hp2 HG02071.hp2 HG02129.hp2 HG02280.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02735.hp2 HG02809.hp2 HG02896.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03471.hp2 HG03579.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18951.hp1 NA18964.hp2 NA18988.hp2 NA18990.hp1 NA19000.hp1 NA19055.hp2 NA19066.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA20905.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0010 a0002c0003t0014 a0002c0003t0005 a0002c0003t0010 a0002c0003t0014	a0002c0003t0005g0005 a0002c0003t0005g0016 a0002c0003t0005g0017 others(4): Show a0002c0003t0005g0005 a0002c0003t0005g0016 a0002c0003t0005g0017 a0002c0003t0005g0018 a0002c0003t0005g0019 a0002c0003t0010g0007 a0002c0003t0014g0005	39	448	0.0871	-328	c.-25 others(11): Show c.-2554_-2227del	OR5D3P	ENSG00000186886.8	transcript	ENST00000641440.1	protein_coding		2304		chr11	TogoVar
ORC3_chr6_87585135_87672451	87610524	TTACTAAT others(321): Show TTACTAATATACTTTATTTTTTTTTATTTTTTATTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCTGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01256.hp2 HG01433.hp1 others(20): Show HG00323.hp1 HG01256.hp2 HG01433.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp2 HG02486.hp1 HG02630.hp2 HG02895.hp1 HG02965.hp2 HG03130.hp1 HG03579.hp2 HG03669.hp1 NA18906.hp1 NA18947.hp2 NA19010.hp1 NA19043.hp2 NA19064.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0012	a0001c0001t0001 a0001c0002t0001 a0002c0003t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0003 a0005c0012t0001	a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0002t0001g0284 others(20): Show a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0342 a0002c0003t0003g0343 a0002c0003t0003g0344 a0002c0003t0003g0345 a0002c0003t0003g0346 a0002c0003t0003g0347 a0002c0003t0003g0348 a0002c0003t0003g0349 a0002c0003t0003g0350 a0002c0003t0003g0351 a0005c0012t0001g0281	23	378	0.0609	-328	c.713 others(17): Show c.713+1311_714-1222del	ORC3	ENSG00000135336.16	transcript	ENST00000392844.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCSK6_chr15_101298933_101494707	101311761	CCCCTCAC others(321): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATGGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC ACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19240.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0005 a0001c0010t0005 a0001c0003t0005 a0001c0010t0005	a0001c0003t0005g0061 a0001c0010t0005g0255 a0001c0003t0005g0061 a0001c0010t0005g0255	2	336	0.0060	-328	c.269 others(19): Show c.2699+1287_2699+1614del	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDE11A_chr2_177618244_178077777	177946445	CGGGAGGG others(321): Show CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC CGGGAAGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0078 a0001c0001t0031g0078	1	170	0.0059	-328	c.107 others(21): Show c.1072-41586_1072-41259del	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PPM1H_chr12_62638994_62940150	62838621	CAAGAATA others(321): Show CAAGAATAATAGCTTCTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00673.hp2 others(36): Show HG00423.hp2 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01243.hp1 HG01884.hp1 HG02080.hp1 HG02083.hp1 HG02145.hp1 HG02155.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG04115.hp1 NA18522.hp1 NA18950.hp2 NA18995.hp1 NA19043.hp2 NA19063.hp1 NA19067.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0026 a0001c0001t0029 a0001c0001t0036 a0001c0001t0049 a0001c0001t0052 a0001c0001t0054 a0001c0001t0057 a0001c0001t0063 a0001c0002t0010 a0001c0002t0013 a0001c0002t0017 a0001c0002t0024 a0001c0002t0031 a0001c0002t0056 a0002c0006t0015	a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0226 others(36): Show a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0226 a0001c0001t0002g0032 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0076 a0001c0001t0002g0102 a0001c0001t0002g0114 a0001c0001t0003g0057 a0001c0001t0004g0139 a0001c0001t0005g0031 a0001c0001t0005g0067 a0001c0001t0005g0097 a0001c0001t0005g0105 a0001c0001t0007g0040 a0001c0001t0007g0046 a0001c0001t0007g0186 a0001c0001t0007g0195 a0001c0001t0011g0007 a0001c0001t0013g0121 a0001c0001t0015g0200 a0001c0001t0015g0201 a0001c0001t0022g0192 a0001c0001t0026g0242 a0001c0001t0029g0250 a0001c0001t0036g0028 a0001c0001t0049g0190 a0001c0001t0052g0098 a0001c0001t0054g0202 a0001c0001t0057g0159 a0001c0001t0063g0252 a0001c0002t0010g0137 a0001c0002t0013g0148 a0001c0002t0017g0010 a0001c0002t0024g0246 a0001c0002t0031g0002 a0001c0002t0056g0241 a0002c0006t0015g0244	39	252	0.1548	-328	c.246 others(17): Show c.246-6670_246-6343del	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	1/9			chr12	TogoVar
RAN_chr12_130867066_130882678	130882350	CTCACCTC others(321): Show CTCACCTCTAGGTACTCCTGAGAACTCCTCCTCCGTCTGTGGATCTGCGT GGTCTCCATCACTGATCTCACCTCTAGGTACTCCCGAGAGTGCCTCCTCC ATCACCACAGATCCGCGTAGCCTGCATCACTGATCTCACCTCTAGGTACT CCTGAGAACTCCTCCTCCGTCTGTGGATCTGCGTGGTCTCCATCACTGAT CTCACCTCTAGGTACTCCCGAGAGTGCCTCCTCCATCACCACAGATCCGC GTAGCCTGCATCACTGATCTCACCTCTAGGTACTCCTGAGAACTCCTCCT CTGTCTGTGGATCTGCGTGGTCTCCATCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02965.hp1 HG03195.hp2 others(3): Show HG02559.hp2 HG02965.hp1 HG03195.hp2 HG03579.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0008 a0001c0001t0009g0012 a0001c0001t0002g0008 a0001c0001t0009g0012	6	426	0.0141	-328	c.64 others(11): Show c.6425_*6752del	RAN	ENSG00000132341.12	transcript	ENST00000543796.6	protein_coding		4673		chr12	TogoVar
RASGRP3_chr2_33471649_33569731	33556218	TTCTTCTA others(321): Show TTCTTCTAATAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00639.hp2 others(104): Show HG00323.hp2 HG00423.hp1 HG00639.hp2 HG01070.hp1 HG01081.hp2 HG01175.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18963.hp1 NA18967.hp1 NA18989.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19070.hp1 NA19074.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0003c0009 a0003c0011 a0007c0012 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0059 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0005 a0001c0003t0018 a0001c0003t0026 a0001c0003t0028 a0001c0004t0019 a0001c0004t0043 a0001c0006t0005 a0003c0009t0049 a0003c0011t0046 a0007c0012t0015 a0008c0010t0008	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 others(104): Show a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0002g0037 a0001c0001t0002g0190 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0015 a0001c0001t0003g0041 a0001c0001t0003g0062 a0001c0001t0003g0103 a0001c0001t0003g0140 a0001c0001t0003g0149 a0001c0001t0003g0164 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0225 a0001c0001t0003g0237 a0001c0001t0003g0242 a0001c0001t0003g0298 a0001c0001t0003g0302 a0001c0001t0003g0304 a0001c0001t0003g0331 a0001c0001t0003g0363 a0001c0001t0004g0145 a0001c0001t0005g0177 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0180 a0001c0001t0008g0185 a0001c0001t0008g0220 a0001c0001t0008g0244 a0001c0001t0009g0215 a0001c0001t0011g0077 a0001c0001t0011g0080 a0001c0001t0011g0195 a0001c0001t0011g0204 a0001c0001t0011g0310 a0001c0001t0011g0312 a0001c0001t0011g0323 a0001c0001t0012g0123 a0001c0001t0012g0127 a0001c0001t0012g0132 a0001c0001t0012g0135 a0001c0001t0012g0136 a0001c0001t0012g0186 a0001c0001t0013g0121 a0001c0001t0013g0166 a0001c0001t0013g0240 a0001c0001t0013g0300 a0001c0001t0013g0301 a0001c0001t0014g0130 a0001c0001t0014g0131 a0001c0001t0014g0133 a0001c0001t0014g0193 a0001c0001t0015g0050 a0001c0001t0015g0219 a0001c0001t0018g0249 a0001c0001t0019g0311 a0001c0001t0020g0142 a0001c0001t0020g0148 a0001c0001t0020g0155 a0001c0001t0022g0259 a0001c0001t0022g0260 a0001c0001t0024g0159 a0001c0001t0027g0194 a0001c0001t0027g0199 a0001c0001t0031g0125 a0001c0001t0031g0141 a0001c0001t0032g0235 a0001c0001t0035g0276 a0001c0001t0050g0313 a0001c0001t0051g0299 a0001c0001t0052g0303 a0001c0001t0059g0203 a0001c0002t0001g0055 a0001c0002t0003g0075 a0001c0002t0003g0289 a0001c0002t0003g0291 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0296 a0001c0002t0004g0078 a0001c0003t0005g0040 a0001c0003t0005g0119 a0001c0003t0005g0175 a0001c0003t0005g0176 a0001c0003t0005g0192 a0001c0003t0005g0198 a0001c0003t0005g0241 a0001c0003t0005g0252 a0001c0003t0005g0253 a0001c0003t0005g0256 a0001c0003t0005g0257 a0001c0003t0005g0258 a0001c0003t0018g0178 a0001c0003t0026g0165 a0001c0003t0028g0173 a0001c0004t0019g0042 a0001c0004t0019g0118 a0001c0004t0043g0201 a0001c0006t0005g0254 a0001c0006t0005g0255 a0003c0009t0049g0070 a0003c0011t0046g0202 a0007c0012t0015g0117 a0008c0010t0008g0319	107	370	0.2892	-328	c.157 others(17): Show c.1579+667_1579+994del	RASGRP3	ENSG00000152689.18	transcript	ENST00000403687.8	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF213_chr17_80255852_80403794	80315441	GTGGTGGT others(321): Show GTGGTGGTGGTGGTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGGT GGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTACTGGAGG TGATGGTGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTG GTGGTGGTGGTACTGGAGGTGATGGTGGTCCGTGGAGGTGATGGTGGTGG TGGTAATGGAGGTGATGGTGGTGGTACTGGAGGTGATGGTGGTGGTGAAG GTGATGGTAGAGGTAATGGAAGTGATGGTGGAGGTACTGGAGGTGATGGT GGTGGTGGTGGAGGTGACAGTGGTGATGC	G G	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0011 a0001c0029t0011	a0001c0029t0011g0041 a0001c0029t0011g0041	1	292	0.0034	-328	c.281 others(19): Show c.2812-1730_2812-1403del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1076105	GGGGAGGC others(321): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGCAGGCTGAGGCTACGGTGACTCCGTGCAGGGCTGTGAG GCTACGGGGACTCCGTGGGGGGTGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCTGGGAGGCTGAG GCTATGGGGACTCCGTCGGGGGAGGCTGAGTCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02258.hp2 HG02280.hp1 others(9): Show HG01123.hp1 HG02258.hp2 HG02280.hp1 HG02818.hp2 HG02896.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03486.hp1 HG03579.hp1 NA19240.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0009 a0002c0002 a0009c0009	a0002c0002t0005 a0002c0002t0012 a0002c0002t0019 others(1): Show a0002c0002t0005 a0002c0002t0012 a0002c0002t0019 a0009c0009t0018	a0002c0002t0005g0008 a0002c0002t0005g0046 a0002c0002t0012g0018 others(2): Show a0002c0002t0005g0008 a0002c0002t0005g0046 a0002c0002t0012g0018 a0002c0002t0019g0047 a0009c0009t0018g0048	12	324	0.0370	-328	c.-24 others(11): Show c.-2427_-2100del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1800		chr1	TogoVar
RPH3AL_chr17_207389_357807	288531	TCGCACCC others(321): Show TCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGT CAGACCTCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCA CCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTC TCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCCACCGTCAGACCTCG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp1 others(41): Show HG00099.hp1 HG00140.hp1 HG00544.hp1 HG00544.hp2 HG01243.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01978.hp2 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02559.hp2 HG02622.hp1 HG02698.hp2 HG02723.hp2 HG02886.hp1 HG02976.hp2 HG03453.hp1 NA18522.hp1 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18947.hp2 NA18951.hp1 NA18959.hp1 NA18963.hp2 NA18983.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19074.hp1 NA19079.hp1 NA19088.hp1 NA19088.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0002c0005 a0005c0010 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0021 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0002t0003 a0001c0002t0029 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0004 a0001c0004t0026 a0001c0008t0001 a0002c0005t0005 a0005c0010t0003 a0008c0013t0003	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 others(41): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0133 a0001c0001t0002g0029 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0069 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0003g0081 a0001c0001t0004g0039 a0001c0001t0007g0097 a0001c0001t0008g0042 a0001c0001t0010g0131 a0001c0001t0011g0003 a0001c0001t0011g0007 a0001c0001t0011g0056 a0001c0001t0012g0005 a0001c0001t0014g0106 a0001c0001t0021g0077 a0001c0001t0031g0067 a0001c0001t0033g0063 a0001c0001t0034g0018 a0001c0002t0003g0090 a0001c0002t0029g0103 a0001c0003t0001g0068 a0001c0003t0001g0075 a0001c0003t0002g0059 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0050 a0001c0004t0001g0078 a0001c0004t0004g0014 a0001c0004t0026g0013 a0001c0008t0001g0044 a0002c0005t0005g0035 a0005c0010t0003g0085 a0008c0013t0003g0037	44	133	0.3308	-328	c.352 others(17): Show c.352-7005_352-6678del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCARB1_chr12_124771856_124868864	124839644	TCCCAACG others(321): Show TCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGG CACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACA CATGGGCCCCGATTTCTCCGCACCCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03130.hp2 HG02257.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0328 a0001c0001t0003g0023 a0001c0001t0003g0328	2	356	0.0056	-328	c.127 others(19): Show c.127-22265_127-21938del	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SGTA_chr19_2749715_2788273	2773402	AGGGACTC others(321): Show AGGGACTCCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACC GAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGA GGTGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGA CGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACACGGCCAC ACGGCAGGGACTCCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGG ACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGG GCAGAGATGGGTGACGCGGCCACACGGCG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp2 HG01516.hp2 others(31): Show HG01109.hp2 HG01346.hp2 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01993.hp1 HG02080.hp2 HG02132.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 NA18747.hp2 NA18943.hp2 NA18952.hp1 NA18962.hp1 NA18966.hp1 NA18969.hp2 NA18989.hp1 NA18999.hp1 NA19004.hp1 NA19043.hp1 NA19064.hp2 NA19065.hp1 NA19079.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0002 a0001c0002t0003 a0001c0003t0020 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0003t0020 a0001c0005t0002	a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0011 others(24): Show a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0018 a0001c0002t0002g0060 a0001c0002t0002g0073 a0001c0002t0002g0081 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0171 a0001c0002t0003g0036 a0001c0002t0003g0094 a0001c0003t0020g0128 a0001c0005t0002g0069 a0001c0005t0002g0070 a0001c0005t0002g0071 a0001c0005t0002g0189 a0001c0005t0002g0336 a0001c0005t0002g0337 a0001c0005t0002g0338	34	396	0.0859	-328	c.-23 others(17): Show c.-23-4639_-23-4312del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar

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Search Results (Total: 10000 hits)