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
SGTA_chr19_2749715_2788273	2773443	AGGGACAC others(321): Show AGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACC GAGGGCAGAGGTGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGA GGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGA CACGGCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTGACGCGGCCAC AGGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGG ACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCGGGGACACCGAGG GCAGAGGTGGGTGACGCGGCCACACGGCG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01975.hp1 HG03654.hp2 others(3): Show HG01515.hp1 HG01975.hp1 HG03654.hp2 HG03704.hp1 NA18954.hp1 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0053 a0001c0002t0002g0065 a0001c0002t0002g0072 others(3): Show a0001c0002t0002g0053 a0001c0002t0002g0065 a0001c0002t0002g0072 a0001c0002t0002g0077 a0001c0003t0003g0159 a0001c0003t0003g0177	6	396	0.0152	-328	c.-23 others(17): Show c.-23-4680_-23-4353del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SHOX_chrX_625791_656584	647194	AGCCTCCC others(321): Show AGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAA CTTTCTGGTATTTTTAGTAGAGACAGGGTTTCAGCCTCCCGAGTAGCTGG GATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGT AGAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCA CCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCAGCC TCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTT CTGGTATTTTTAGTAGAGACAGGGTTTCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0193 a0001c0001t0193	a0001c0001t0193g0075 a0001c0001t0193g0075	1	220	0.0046	-328	c.26 others(11): Show c.2640_*2967del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	2640	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	647509	GAGACAGG others(321): Show GAGACAGGGTTTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCAC CAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCCT CCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTC TGGTATTTTTAGTAGAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGATTA CAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGA CAGGGTTTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGG CCTGGGTAACTTTCTGGTATTTTTAGTAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 NA18946.hp2 HG03041.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0196 a0001c0001t0062 a0001c0001t0196	a0001c0001t0062g0044 a0001c0001t0196g0158 a0001c0001t0062g0044 a0001c0001t0196g0158	2	220	0.0091	-328	c.28 others(11): Show c.2886_*3213del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	2886	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	647522	GGCCTCCC others(321): Show GGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAA CTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCCTCCCGAGTAGCTGG GATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGT AGAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCA CCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCC TCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTT CTGGTATTTTTAGTACAGACAGGGTTTCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG01884.hp1 others(19): Show HG00408.hp2 HG00597.hp2 HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG03041.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG06807.hp1 NA18906.hp2 NA18998.hp2 NA19009.hp1 NA19030.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0048 others(18): Show a0001c0001t0007 a0001c0001t0021 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0161 a0001c0001t0162 a0001c0001t0167 a0001c0001t0169 a0001c0001t0174 a0001c0001t0183 a0001c0001t0192	a0001c0001t0007g0070 a0001c0001t0007g0076 a0001c0001t0021g0004 others(19): Show a0001c0001t0007g0070 a0001c0001t0007g0076 a0001c0001t0021g0004 a0001c0001t0048g0032 a0001c0001t0049g0059 a0001c0001t0050g0110 a0001c0001t0051g0111 a0001c0001t0053g0101 a0001c0001t0054g0087 a0001c0001t0056g0090 a0001c0001t0057g0147 a0001c0001t0058g0014 a0001c0001t0091g0119 a0001c0001t0092g0078 a0001c0001t0093g0088 a0001c0001t0161g0086 a0001c0001t0162g0149 a0001c0001t0167g0015 a0001c0001t0169g0131 a0001c0001t0174g0126 a0001c0001t0183g0081 a0001c0001t0192g0073	22	220	0.1000	-328	c.30 others(11): Show c.3050_*3377del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	3050	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTA1_chr1_158605704_158691715	158659581	ATAGTCTT others(321): Show ATAGTCTTAGCATTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACTCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(144): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00621.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01109.hp1 HG01167.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18980.hp1 NA18983.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19001.hp2 NA19003.hp1 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19084.hp1 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(46): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0013 a0014 a0017 a0018 a0020 a0021 a0022 a0023 a0024 a0025 a0028 a0029 a0030 a0034 a0035 a0036 a0037 a0038 a0039 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0050 a0052 a0054 a0055 a0056 a0057 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070	a0001c0012 a0001c0050 a0001c0073 others(61): Show a0001c0012 a0001c0050 a0001c0073 a0002c0002 a0002c0068 a0003c0011 a0003c0024 a0003c0088 a0004c0015 a0004c0022 a0004c0029 a0004c0032 a0004c0060 a0005c0049 a0005c0072 a0006c0010 a0006c0035 a0008c0016 a0008c0089 a0009c0017 a0010c0014 a0013c0059 a0013c0097 a0014c0025 a0017c0046 a0018c0052 a0020c0056 a0020c0098 a0021c0030 a0022c0021 a0023c0023 a0024c0038 a0024c0039 a0025c0019 a0028c0095 a0029c0094 a0030c0093 a0034c0043 a0035c0058 a0036c0061 a0037c0062 a0038c0034 a0039c0033 a0041c0086 a0042c0076 a0043c0075 a0044c0045 a0045c0074 a0046c0065 a0047c0066 a0050c0067 a0052c0087 a0054c0048 a0055c0047 a0056c0069 a0057c0071 a0063c0100 a0064c0090 a0065c0063 a0066c0064 a0067c0044 a0068c0041 a0069c0040 a0070c0037	a0001c0012t0006 a0001c0012t0007 a0001c0050t0007 others(73): Show a0001c0012t0006 a0001c0012t0007 a0001c0050t0007 a0001c0073t0007 a0002c0002t0001 a0002c0002t0032 a0002c0002t0034 a0002c0002t0052 a0002c0002t0053 a0002c0068t0008 a0003c0011t0003 a0003c0011t0017 a0003c0011t0018 a0003c0024t0025 a0003c0088t0035 a0004c0015t0007 a0004c0015t0015 a0004c0015t0039 a0004c0022t0015 a0004c0022t0039 a0004c0029t0004 a0004c0032t0014 a0004c0060t0015 a0005c0049t0013 a0005c0072t0037 a0006c0010t0014 a0006c0035t0014 a0008c0016t0029 a0008c0016t0030 a0008c0089t0030 a0009c0017t0023 a0010c0014t0015 a0010c0014t0038 a0013c0059t0061 a0013c0097t0021 a0014c0025t0004 a0017c0046t0006 a0018c0052t0001 a0020c0056t0007 a0020c0098t0004 a0021c0030t0004 a0022c0021t0007 a0023c0023t0007 a0024c0038t0015 a0024c0039t0015 a0025c0019t0040 a0028c0095t0019 a0029c0094t0019 a0030c0093t0041 a0034c0043t0035 a0035c0058t0041 a0036c0061t0015 a0037c0062t0060 a0038c0034t0049 a0039c0033t0050 a0041c0086t0037 a0042c0076t0008 a0043c0075t0016 a0044c0045t0006 a0045c0074t0011 a0046c0065t0059 a0047c0066t0027 a0050c0067t0008 a0052c0087t0027 a0054c0048t0001 a0055c0047t0001 a0056c0069t0045 a0057c0071t0019 a0063c0100t0005 a0064c0090t0020 a0065c0063t0001 a0066c0064t0004 a0067c0044t0006 a0068c0041t0013 a0069c0040t0013 a0070c0037t0027	a0001c0012t0006g0215 a0001c0012t0006g0235 a0001c0012t0007g0208 others(132): Show a0001c0012t0006g0215 a0001c0012t0006g0235 a0001c0012t0007g0208 a0001c0050t0007g0281 a0001c0073t0007g0253 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0180 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0198 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0206 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0249 a0002c0002t0001g0279 a0002c0002t0032g0177 a0002c0002t0032g0179 a0002c0002t0034g0216 a0002c0002t0034g0282 a0002c0002t0052g0178 a0002c0002t0053g0199 a0002c0068t0008g0045 a0003c0011t0003g0214 a0003c0011t0017g0188 a0003c0011t0018g0207 a0003c0024t0025g0254 a0003c0024t0025g0255 a0003c0088t0035g0252 a0004c0015t0007g0256 a0004c0015t0015g0332 a0004c0015t0039g0339 a0004c0022t0015g0334 a0004c0022t0039g0340 a0004c0029t0004g0164 a0004c0029t0004g0166 a0004c0032t0014g0171 a0004c0060t0015g0333 a0005c0049t0013g0280 a0005c0072t0037g0327 a0006c0010t0014g0009 a0006c0010t0014g0170 a0006c0035t0014g0168 a0008c0016t0029g0162 a0008c0016t0029g0163 a0008c0016t0030g0161 a0008c0089t0030g0157 a0009c0017t0023g0004 a0010c0014t0015g0330 a0010c0014t0038g0337 a0010c0014t0038g0338 a0013c0059t0061g0331 a0013c0097t0021g0167 a0014c0025t0004g0154 a0014c0025t0004g0155 a0017c0046t0006g0225 a0018c0052t0001g0191 a0020c0056t0007g0322 a0020c0098t0004g0165 a0021c0030t0004g0024 a0021c0030t0004g0025 a0022c0021t0007g0222 a0022c0021t0007g0229 a0023c0023t0007g0257 a0023c0023t0007g0258 a0024c0038t0015g0343 a0024c0039t0015g0344 a0025c0019t0040g0019 a0028c0095t0019g0153 a0029c0094t0019g0152 a0030c0093t0041g0336 a0034c0043t0035g0320 a0035c0058t0041g0329 a0036c0061t0015g0328 a0037c0062t0060g0335 a0038c0034t0049g0176 a0039c0033t0050g0169 a0041c0086t0037g0342 a0042c0076t0008g0156 a0043c0075t0016g0158 a0044c0045t0006g0205 a0045c0074t0011g0029 a0046c0065t0059g0341 a0047c0066t0027g0325 a0050c0067t0008g0039 a0052c0087t0027g0326 a0054c0048t0001g0231 a0055c0047t0001g0220 a0056c0069t0045g0159 a0057c0071t0019g0150 a0063c0100t0005g0026 a0064c0090t0020g0119 a0065c0063t0001g0259 a0066c0064t0004g0160 a0067c0044t0006g0200 a0068c0041t0013g0251 a0069c0040t0013g0250 a0070c0037t0027g0345	147	370	0.3973	-328	c.258 others(19): Show c.2587+1378_2587+1705del	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
STAU2_chr8_73415369_73751840	73720489	AAAATACT others(321): Show AAAATACTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACAGGGTTTCACCTTGTTAACCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTAGTTT	A A	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	240	0.0042	-328	c.-17 others(19): Show c.-17-11655_-17-11328del	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	3/14			chr8	TogoVar
STK3_chr8_98449633_98830688	98452912	TACCACGA others(321): Show TACCACGATCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCA TGTTGGTCAGGCTGGTCTTGAACTCTTGACCTCAAGTGATCTGCTGGCCT CAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCTGGCCT AGACTTGATTTCTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTCGAGACA GAGTCTCGCTCTGTCACCCAGGCTGGAGCGCAGTGGTGTGATCTTGGCCC ACTGCAACCTTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTC CTGAGTAGCTGGGATTACGGGCATGTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(83): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02145.hp1 HG02165.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03579.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18960.hp2 NA18963.hp2 NA18968.hp2 NA18982.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19064.hp1 NA19066.hp1 NA19077.hp1 NA19081.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0002c0003t0002	a0001c0001t0001g0107 a0001c0001t0001g0147 a0001c0001t0001g0148 others(83): Show a0001c0001t0001g0107 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0003g0003 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0006g0170 a0001c0002t0002g0021 a0001c0002t0002g0065 a0002c0003t0002g0129	86	170	0.5059	-328	c.26 others(11): Show c.2602_*2929del	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding		1720		chr8	TogoVar
THBS3_chr1_155190588_155212897	155190635	GGTGACAC others(321): Show GGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCG GGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGA GCCCGGGGCCGGCCTGGTGTCCGGGGTCGAGGTGACACCGTGGGCTTGGG GGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGGGGGCGGTGGAGCCG GGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCTGGGGGGGCGGTGGA GCCCGGGGCCGGCAGGGGTCCGGGGCCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	298	0.0034	-328	c.48 others(11): Show c.4878_*5205del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4952		chr1	TogoVar
THBS3_chr1_155190588_155212897	155190651	GCGGGCGC others(321): Show GCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGAC ACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGG CCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTG GTGTCCGGGGTCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGG GGCCGGCCTGGTGTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTC CGGGGTTGGAAAACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGG GGTCCGGGGCCGAGGTGACACCGTGGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01123.hp1 HG02738.hp2 others(8): Show HG00621.hp1 HG01123.hp1 HG02738.hp2 HG04228.hp2 NA18956.hp1 NA18959.hp2 NA18966.hp2 NA18994.hp2 NA19067.hp1 NA19067.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0057	11	298	0.0369	-328	c.48 others(11): Show c.4862_*5189del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4936		chr1	TogoVar
TULP4_chr6_158307465_158516828	158455044	GCAAATTT others(321): Show GCAAATTTAACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAATGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18942.hp2 NA18945.hp1 NA18950.hp2 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18982.hp1 NA18991.hp1 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19082.hp1 NA19086.hp2 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0008	a0001c0001 a0001c0004 a0001c0005 others(28): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0027 a0001c0028 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0042 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0002c0010 a0002c0043 a0004c0044 a0005c0045 a0007c0046 a0008c0029	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(81): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0056 a0001c0001t0059 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0085 a0001c0001t0092 a0001c0004t0009 a0001c0004t0011 a0001c0004t0021 a0001c0004t0072 a0001c0005t0012 a0001c0005t0017 a0001c0005t0036 a0001c0005t0037 a0001c0005t0044 a0001c0005t0046 a0001c0006t0009 a0001c0006t0010 a0001c0006t0011 a0001c0006t0018 a0001c0006t0020 a0001c0006t0021 a0001c0008t0029 a0001c0008t0053 a0001c0008t0054 a0001c0008t0055 a0001c0008t0087 a0001c0008t0089 a0001c0011t0008 a0001c0011t0057 a0001c0011t0058 a0001c0011t0069 a0001c0011t0081 a0001c0013t0016 a0001c0013t0043 a0001c0014t0041 a0001c0014t0049 a0001c0014t0074 a0001c0015t0032 a0001c0015t0084 a0001c0016t0050 a0001c0016t0051 a0001c0017t0005 a0001c0017t0091 a0001c0018t0005 a0001c0018t0027 a0001c0027t0012 a0001c0028t0040 a0001c0030t0038 a0001c0031t0016 a0001c0032t0023 a0001c0033t0045 a0001c0042t0008 a0001c0047t0070 a0001c0048t0071 a0001c0049t0086 a0001c0050t0029 a0001c0051t0093 a0001c0052t0002 a0002c0010t0013 a0002c0010t0076 a0002c0010t0077 a0002c0043t0013 a0004c0044t0013 a0005c0045t0096 a0007c0046t0002 a0008c0029t0023	a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0087 others(152): Show a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0152 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0212 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0117 a0001c0001t0005g0119 a0001c0001t0005g0154 a0001c0001t0005g0170 a0001c0001t0005g0173 a0001c0001t0006g0185 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0194 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0207 a0001c0001t0007g0020 a0001c0001t0007g0050 a0001c0001t0007g0052 a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0067 a0001c0001t0008g0078 a0001c0001t0008g0109 a0001c0001t0008g0175 a0001c0001t0008g0176 a0001c0001t0008g0216 a0001c0001t0014g0102 a0001c0001t0014g0103 a0001c0001t0014g0114 a0001c0001t0014g0126 a0001c0001t0025g0003 a0001c0001t0025g0004 a0001c0001t0026g0016 a0001c0001t0026g0036 a0001c0001t0027g0217 a0001c0001t0030g0092 a0001c0001t0030g0151 a0001c0001t0031g0132 a0001c0001t0031g0134 a0001c0001t0033g0083 a0001c0001t0033g0084 a0001c0001t0034g0193 a0001c0001t0034g0197 a0001c0001t0056g0013 a0001c0001t0059g0062 a0001c0001t0066g0218 a0001c0001t0067g0118 a0001c0001t0068g0077 a0001c0001t0078g0080 a0001c0001t0079g0079 a0001c0001t0080g0131 a0001c0001t0085g0158 a0001c0001t0092g0214 a0001c0004t0009g0090 a0001c0004t0009g0127 a0001c0004t0009g0128 a0001c0004t0009g0143 a0001c0004t0009g0153 a0001c0004t0009g0164 a0001c0004t0011g0189 a0001c0004t0011g0192 a0001c0004t0011g0195 a0001c0004t0011g0201 a0001c0004t0011g0202 a0001c0004t0021g0203 a0001c0004t0072g0104 a0001c0005t0012g0240 a0001c0005t0012g0248 a0001c0005t0012g0251 a0001c0005t0017g0249 a0001c0005t0017g0252 a0001c0005t0036g0237 a0001c0005t0037g0222 a0001c0005t0044g0227 a0001c0005t0046g0250 a0001c0006t0009g0160 a0001c0006t0010g0161 a0001c0006t0011g0206 a0001c0006t0018g0147 a0001c0006t0020g0141 a0001c0006t0021g0200 a0001c0006t0021g0208 a0001c0008t0029g0182 a0001c0008t0053g0184 a0001c0008t0054g0211 a0001c0008t0055g0183 a0001c0008t0087g0168 a0001c0008t0089g0116 a0001c0011t0008g0180 a0001c0011t0057g0145 a0001c0011t0058g0146 a0001c0011t0069g0149 a0001c0011t0081g0213 a0001c0013t0016g0225 a0001c0013t0016g0228 a0001c0013t0043g0226 a0001c0014t0041g0223 a0001c0014t0049g0262 a0001c0014t0074g0221 a0001c0015t0032g0001 a0001c0015t0032g0179 a0001c0015t0084g0002 a0001c0016t0050g0253 a0001c0016t0051g0256 a0001c0017t0005g0171 a0001c0017t0091g0178 a0001c0018t0005g0140 a0001c0018t0027g0098 a0001c0027t0012g0219 a0001c0028t0040g0236 a0001c0030t0038g0231 a0001c0031t0016g0224 a0001c0032t0023g0230 a0001c0033t0045g0267 a0001c0042t0008g0110 a0001c0047t0070g0159 a0001c0048t0071g0076 a0001c0049t0086g0181 a0001c0050t0029g0215 a0001c0051t0093g0190 a0001c0052t0002g0099 a0002c0010t0013g0081 a0002c0010t0013g0096 a0002c0010t0013g0097 a0002c0010t0076g0095 a0002c0010t0077g0101 a0002c0043t0013g0100 a0004c0044t0013g0113 a0005c0045t0096g0209 a0007c0046t0002g0086 a0008c0029t0023g0229	155	268	0.5784	-328	c.859 others(17): Show c.859+2792_859+3119del	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
VIPR2_chr7_159023175_159149867	159087340	TCCCCAAC others(321): Show TCCCCAACAAACAATACACAGGATCCTCATAGTGAGATACGACTTCCCCA ACAAACAATAACCACACTCTGCCAGGACTCTGATAGTGAGATACGGCTTC CCCAACAAACAATACCCAGGACTTGGATAGTGAGATACGGCTTCCCCAAC AAACAATACCCAGGACTCAGATAGTGAGATACAGCTTCCCCAACAAACAA TACCCAGGACTCGGATAGTGAGATACGGCTTCCCAACAAACAATAACCAC ACTCTGCCAGGATTCTGATAGTGAGATACAGCTTCTCCAACAAACAATAC CCAGGACTCTGATAGTGAGATACAGCTTC	T T	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0122 a0001c0003t0003g0122	1	336	0.0030	-328	c.357 others(19): Show c.357+16089_357+16416del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
ZDHHC24_chr11_66530626_66551048	66537667	ACCTGTAA others(321): Show ACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAA AAATACAAAAAATTAGCTTGGCGTGGTGGCAGGCACCTGTAGTCCCAGCT ACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAGCTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAACAAG AGTCTGTCTCAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAA AAATTGTCAGCCAGGCACGGTAGCTCACG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG01358.hp1 HG03669.hp1 HG00140.hp2 HG01358.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0028 a0001c0001t0022g0028	3	410	0.0073	-328	c.15 others(11): Show c.1534_*1861del	ZDHHC24	ENSG00000174165.8	transcript	ENST00000310442.5	protein_coding	3/3	1534		chr11	TogoVar
ZNF148_chr3_125220669_125380325	125297423	GAAAAGAC others(321): Show GAAAAGACTTATACAATAAATCGAACCTTATTAACTCCTGTTTACCAAAA AAGTAAAAAGACCCACCAGAGTCAGAAATGATCACTGCAATACATGCATC CAACCAGTGGATAAAGAACTACTACAAATCTGTAAGAGAAAGAAACAACC TACTAGAAAATTAAGCAAAAGATGAACATCTACCTTACTAAAAAATAATA TTTAAATTGTCAATAAACATGAAAAGATAATCAATTTCATTAGTTACTAG TGAAATGAAACATTAAGTCATATTGCAATTCCACTATCATACCACCAAAA CAGCTAAACTTAAAAGGACTGACAAGATC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02895.hp2 others(1): Show HG02280.hp2 HG02451.hp2 HG02895.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0210 others(1): Show a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0210 a0001c0001t0003g0217	4	332	0.0121	-328	c.334 others(17): Show c.334-9523_334-9196del	ZNF148	ENSG00000163848.21	transcript	ENST00000360647.9	protein_coding	4/8			chr3	TogoVar
ABCB11_chr2_168915781_169036324	169029711	ACAGTTCT others(320): Show ACAGTTCTTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCTTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAG ATTACAGGCGTGAGCCACCGCGCCCGGC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01123.hp1 others(53): Show HG00438.hp1 HG00741.hp2 HG01123.hp1 HG01255.hp2 HG01346.hp2 HG01433.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02132.hp1 HG02257.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp2 HG02738.hp1 HG02886.hp2 HG02896.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03579.hp2 HG03669.hp2 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18961.hp2 NA18965.hp2 NA18979.hp1 NA18980.hp1 NA18987.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0013	a0001c0001 a0001c0002 a0001c0036 others(14): Show a0001c0001 a0001c0002 a0001c0036 a0001c0062 a0001c0063 a0002c0003 a0002c0020 a0002c0025 a0002c0027 a0002c0028 a0002c0065 a0003c0013 a0003c0018 a0003c0024 a0003c0064 a0005c0068 a0013c0040	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 others(23): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0001c0001t0020 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0019 a0001c0036t0003 a0001c0062t0004 a0001c0063t0001 a0002c0003t0001 a0002c0020t0008 a0002c0025t0004 a0002c0025t0008 a0002c0027t0006 a0002c0028t0001 a0002c0065t0006 a0003c0013t0001 a0003c0018t0036 a0003c0024t0004 a0003c0064t0011 a0005c0068t0001 a0013c0040t0001	a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 others(53): Show a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0010g0240 a0001c0001t0013g0258 a0001c0001t0020g0273 a0001c0002t0002g0251 a0001c0002t0002g0261 a0001c0002t0002g0263 a0001c0002t0002g0265 a0001c0002t0002g0269 a0001c0002t0002g0274 a0001c0002t0003g0247 a0001c0002t0003g0276 a0001c0002t0004g0266 a0001c0002t0005g0254 a0001c0002t0007g0249 a0001c0002t0019g0004 a0001c0036t0003g0244 a0001c0062t0004g0227 a0001c0063t0001g0226 a0002c0003t0001g0238 a0002c0003t0001g0264 a0002c0003t0001g0268 a0002c0003t0001g0271 a0002c0020t0008g0233 a0002c0025t0004g0231 a0002c0025t0008g0225 a0002c0027t0006g0222 a0002c0028t0001g0221 a0002c0065t0006g0223 a0003c0013t0001g0088 a0003c0018t0036g0224 a0003c0024t0004g0228 a0003c0024t0004g0229 a0003c0064t0011g0230 a0005c0068t0001g0232 a0013c0040t0001g0259	56	306	0.1830	-327	c.-28 others(17): Show c.-28+1187_-28+1513del	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	1/27			chr2	TogoVar
ABCD2_chr12_39545033_39624803	39613087	TAAAGAAT others(320): Show TAAAGAATTGAGGTTGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00639.hp1 others(102): Show HG00280.hp1 HG00423.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18947.hp1 NA18951.hp1 NA18966.hp1 NA18971.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18997.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19062.hp2 NA19064.hp2 NA19067.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0008 others(3): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0003c0005 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0006t0024 a0001c0008t0006 a0002c0002t0004 a0003c0005t0011 a0003c0009t0011	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0067 others(77): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0004g0051 a0001c0001t0004g0061 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0005g0001 a0001c0001t0005g0014 a0001c0001t0005g0086 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0006g0010 a0001c0001t0006g0050 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0060 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0077 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0009g0013 a0001c0001t0009g0033 a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0010g0011 a0001c0001t0010g0074 a0001c0001t0010g0076 a0001c0001t0011g0081 a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0001t0018g0073 a0001c0001t0022g0075 a0001c0001t0023g0080 a0001c0001t0027g0059 a0001c0001t0028g0035 a0001c0006t0024g0030 a0001c0008t0006g0058 a0002c0002t0004g0005 a0002c0002t0004g0028 a0002c0002t0004g0286 a0002c0002t0004g0287 a0002c0002t0004g0288 a0002c0002t0004g0289 a0002c0002t0004g0290 a0003c0005t0011g0027 a0003c0009t0011g0285	105	340	0.3088	-327	c.112 others(19): Show c.1120+3574_1120+3900del	ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	2/9			chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289691	CCGTGTCT others(320): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	295	0.0034	-327	c.35 others(11): Show c.3546_*3872del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2699		chr1	TogoVar
ADAP1_chr7_892900_959680	933871	GGTGCTGG others(320): Show GGTGCTGGAGAGCCGGGGACCGGGGTCAGTGGTGCTGGAGAGCCGGGGGC CGGGGTCAGTGGTGGTGCAGAGCCGGGGACCGGGGTCAGTGGTGCTGGAG AGCCGGGGGCCGGGGTCAGTGGTGCTGGAGAGCCGGGGGCCGGGGTCAGT GGTGGTGCAGAGCCGGGGACCGGGGTCAGTGGTGCTGGAGAGCCGGGGAC TGGGGTCAGTGGTGCTGGAGAGCCGGGAGCCGGGGTCAGTGGTGCTGGAG AGCCGGGGGCCGGGGTCAGTGGTGGTGCAGAGCCGGGGACCGGGGTCAGT GGTGCTGGAGAGCCGGGGGCCGGGGTCA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03654.hp2 HG01993.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0013 a0001c0001t0001g0014	2	14	0.1429	-327	c.213 others(17): Show c.213+1177_213+1503del	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	2/10			chr7	TogoVar
ADGB_chr6_146593972_146820462	146716295	TAAAGAAT others(320): Show TAAAGAATCTGTGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01081.hp1 HG01516.hp1 others(35): Show HG00609.hp2 HG01081.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0003 a0007 a0008 others(8): Show a0003 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0018 a0019 a0028	a0003c0034 a0007c0017 a0007c0021 others(19): Show a0003c0034 a0007c0017 a0007c0021 a0007c0074 a0008c0016 a0008c0067 a0008c0080 a0009c0023 a0009c0038 a0009c0066 a0009c0079 a0011c0032 a0011c0033 a0011c0056 a0012c0031 a0012c0049 a0013c0039 a0014c0058 a0014c0075 a0018c0078 a0019c0068 a0028c0050	a0003c0034t0001 a0007c0017t0001 a0007c0021t0001 others(22): Show a0003c0034t0001 a0007c0017t0001 a0007c0021t0001 a0007c0074t0001 a0008c0016t0002 a0008c0016t0003 a0008c0067t0002 a0008c0080t0008 a0009c0023t0001 a0009c0023t0002 a0009c0038t0001 a0009c0038t0002 a0009c0066t0001 a0009c0079t0009 a0011c0032t0001 a0011c0033t0001 a0011c0056t0001 a0012c0031t0003 a0012c0049t0002 a0013c0039t0001 a0014c0058t0001 a0014c0075t0002 a0018c0078t0002 a0019c0068t0001 a0028c0050t0002	a0003c0034t0001g0239 a0007c0017t0001g0020 a0007c0017t0001g0123 others(34): Show a0003c0034t0001g0239 a0007c0017t0001g0020 a0007c0017t0001g0123 a0007c0017t0001g0230 a0007c0017t0001g0231 a0007c0021t0001g0156 a0007c0021t0001g0194 a0007c0021t0001g0270 a0007c0074t0001g0026 a0008c0016t0002g0024 a0008c0016t0003g0001 a0008c0016t0003g0057 a0008c0016t0003g0225 a0008c0067t0002g0032 a0008c0080t0008g0017 a0009c0023t0001g0006 a0009c0023t0001g0121 a0009c0023t0002g0097 a0009c0038t0001g0128 a0009c0038t0002g0234 a0009c0066t0001g0127 a0009c0079t0009g0018 a0011c0032t0001g0226 a0011c0032t0001g0227 a0011c0033t0001g0050 a0011c0033t0001g0051 a0011c0056t0001g0022 a0012c0031t0003g0004 a0012c0031t0003g0056 a0012c0049t0002g0060 a0013c0039t0001g0130 a0013c0039t0001g0224 a0014c0058t0001g0243 a0014c0075t0002g0222 a0018c0078t0002g0233 a0019c0068t0001g0228 a0028c0050t0002g0185	38	276	0.1377	-327	c.174 others(17): Show c.1742-574_1742-248del	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	14/35		INFO_REALIGN_3_PRIME	chr6	TogoVar
ASTN2_chr9_116418112_117420057	117282608	CCATGTGA others(320): Show CCATGTGATGTGCTTTGGCCGATAGAATGTGAGAGAACCCACATCTGAGC ATCAGTTTCAAGAGGCATCCTATATTTTTGCCAGCTCTCTTGCTCATTCC CTCTGCCATGAAAACCAAATGTTTCAAACTGGGGCTCCCCTTCAGCCAAA GTACCAGAAGGAGAAGACAAGCAGAGCTGAGCCTGCAGTGACTGCAGCTG CCGATGTGTAAGGTGCATGAGAAGTAAAGCATGGTGTGGCCAAGGCACTA TGATTTAGAGTGGTCTGTTTGCAGAATAAACAAGCAAGAGCTGACTAGCC TGGAAGAGTTGGATATTCTATGAGGTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01243.hp2 others(10): Show HG00639.hp1 HG01109.hp1 HG01243.hp2 HG01261.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02809.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0013 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0003t0001 a0001c0003t0005 a0001c0003t0007 a0001c0003t0012 a0001c0005t0005 a0001c0008t0005 a0001c0013t0009 a0002c0004t0005	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0002g0070 others(10): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0002g0070 a0001c0001t0003g0013 a0001c0001t0007g0078 a0001c0003t0001g0055 a0001c0003t0005g0082 a0001c0003t0007g0071 a0001c0003t0012g0001 a0001c0005t0005g0076 a0001c0008t0005g0073 a0001c0013t0009g0072 a0002c0004t0005g0006	13	102	0.1275	-327	c.630 others(17): Show c.630+8391_630+8717del	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
BABAM2_chr2_27885729_28343901	28131053	TTATTATT others(320): Show TTATTATTATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00639.hp2 others(101): Show HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.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 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG03834.hp1 NA18954.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18982.hp1 NA18986.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19077.hp2 NA19091.hp2 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0013 others(101): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0067 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0106 a0001c0001t0003g0137 a0001c0001t0003g0148 a0002c0002t0001g0085	104	158	0.6582	-327	c.680 others(17): Show c.680+1681_680+2007del	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
CLIC5_chr6_45893456_46020860	45999721	TCTTCCTT others(320): Show TCTTCCTTGTGGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCAGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(220): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0008	a0001c0001 a0001c0009 a0002c0002 others(3): Show a0001c0001 a0001c0009 a0002c0002 a0005c0007 a0007c0004 a0008c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0009t0002 a0002c0002t0002 a0005c0007t0002 a0007c0004t0044 a0008c0003t0002	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(220): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0280 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0063 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0253 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0316 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0003g0010 a0001c0001t0003g0058 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0181 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0209 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0003g0229 a0001c0001t0003g0232 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0242 a0001c0001t0003g0248 a0001c0001t0003g0261 a0001c0001t0003g0271 a0001c0001t0004g0060 a0001c0001t0004g0208 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0004g0264 a0001c0001t0004g0267 a0001c0001t0005g0146 a0001c0001t0005g0234 a0001c0001t0005g0241 a0001c0001t0005g0252 a0001c0001t0005g0287 a0001c0001t0006g0131 a0001c0001t0007g0026 a0001c0001t0007g0254 a0001c0001t0008g0011 a0001c0001t0008g0025 a0001c0001t0008g0041 a0001c0001t0008g0256 a0001c0001t0010g0158 a0001c0001t0010g0233 a0001c0001t0010g0274 a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0011g0197 a0001c0001t0013g0040 a0001c0001t0013g0042 a0001c0001t0014g0005 a0001c0001t0014g0284 a0001c0001t0015g0036 a0001c0001t0016g0334 a0001c0001t0021g0198 a0001c0001t0022g0024 a0001c0001t0025g0243 a0001c0001t0028g0141 a0001c0001t0031g0218 a0001c0001t0032g0149 a0001c0001t0035g0062 a0001c0001t0036g0273 a0001c0001t0037g0061 a0001c0001t0038g0043 a0001c0001t0039g0228 a0001c0001t0041g0013 a0001c0001t0042g0008 a0001c0001t0043g0171 a0001c0001t0046g0214 a0001c0009t0002g0192 a0002c0002t0002g0110 a0002c0002t0002g0279 a0002c0002t0002g0281 a0005c0007t0002g0151 a0007c0004t0044g0003 a0008c0003t0002g0002	223	340	0.6559	-327	c.63+ others(17): Show c.63+15432_63+15758del	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CNTNAP2_chr7_146111801_148425998	146842888	AGTTAGCC others(320): Show AGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCCTGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCACGCCCGGCCTGT CCCACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCC CAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	40	0.0250	-327	c.402 others(17): Show c.402+3003_402+3329del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CTNND2_chr5_10966836_11909446	11817107	GAGAGAGA others(320): Show GAGAGAGAGAGGAGGAGGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGGA GGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAG AGAGAGGAGGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGAGAAGAGAGA GAGAGGGGGAGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGGGGGAGAGA GAGAGAGAGAGGAGGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGAGG AGGAGAGAGAGAGAGAGGGGGGGAGAGAGGGGGGAGAGAGAGAGAGAGAG GAGGGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	26	0.0385	-327	c.38- others(17): Show c.38-85162_38-84836del	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
DCP1B_chr12_1941053_2009457	1958437	CAGGGGAA others(320): Show CAGGGGAAAAGCTCCCTAACGTCGCTCTGGGCAATGGCTTTTTCTATAAA CCTCCTGGAAGAAGACAGGGGAAAAGCTCCCTAACGTCGCTCTGCGCAAT GGCTTTTTCTATAAACCTCCTGGAAGAAGACAGGGGAAAAGCTCCCTAAC GTCGCTCTGGGCAATGACTTTTTCTATAAACCTCCTGGAAGGAGACAGGG GAAAAGCTCCCCAACGTCGCTCTGGGCAATGACTTTTTCCATAAACCTCC CGGAAGGAGACAGGGGAAAAGCTCCCCAACGTCGCTCTGGGCAATGACTT TTTCTATAAACCTCCCGGAAGGAAACAG	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18971.hp1 NA18964.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	378	0.0053	-327	c.523 others(17): Show c.523-3204_523-2878del	DCP1B	ENSG00000151065.14	transcript	ENST00000280665.11	protein_coding	5/8			chr12	TogoVar
DIP2C_chr10_269201_694668	308202	TGTCTGGC others(320): Show TGTCTGGCATCCGAGGAGCTCCCCTCGGCACTGCTCAAGGGTGAGAGCCT AGGCCAGCTAGCAGCGACGGTCAGCGGCGTGGGTGCCGACCAGAGGCATG CAGTGGTGTGTGGGAAAGTGAACTGCACCGCCAGCTCCTGTTCCTATGTA CTCTCACTTCCATTTCAGATGCTTTCCAAAGCAGCTAGCAGCCTAGTCAG GGAAAAGGTTACGCTTTGAGGGCCAGGCCACAGACAGAACTGCATACATG TGTTATTGATGAGCTACTGCTCACTCCTTCAGGAAGTTATATAATTATGA GTTATTTTCCAAAGAATTCTTATGGGGA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03453.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0001t0002g0004 a0001c0001t0002g0025	2	88	0.0227	-327	c.398 others(19): Show c.3986+1502_3986+1828del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	32/36			chr10	TogoVar
DLG2_chr11_83450173_85632344	85500249	CTAAAGTT others(320): Show CTAAAGTTACAAAATCATCATTCTCAGTAAACTATCGCAAGAACAAAAAA CCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCA CATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCG GGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACA CATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTA ACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAA ATAAAAATAAAATAAATAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03471.hp2 NA18906.hp2 HG01884.hp1 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011	a0001c0001t0003g0003 a0001c0001t0010g0014 a0001c0001t0011g0013 a0001c0001t0003g0003 a0001c0001t0010g0014 a0001c0001t0011g0013	3	14	0.2143	-327	c.40+ others(17): Show c.40+98081_40+98407del	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	3/27			chr11	TogoVar
DOC2B_chr17_137789_186650	165076	TCCAACCA others(320): Show TCCAACCACCTACTTCCCTGCCACTGGCAAAGGGCAGAGGTTTGGGGGCC TGGCTGGCTTGGGCTCCAGGCTCAGCTCCTGTTCACCAGCTGGGAAGTGG ATGAGTTACTTTGCACGCTAAGCCTCAGCTTTATCATCTGTTAAAGGGGT TGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCGCTTGAGCCCAGGA GTTCAAGACCAGCCTGGGCAACACAGTAAGACCCTGTCTCTTCAAAAAAC TAAAAAATTAGCTGGGTGGGGTGGCATGTGCCTGTGGTTCCAGCAACTAG AGAAGCTGAGGTGGGAGGATCGCTTGAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0041 a0001c0002t0029g0041	1	339	0.0030	-327	c.454 others(16): Show c.454-1199_454-873del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DPYSL4_chr10_132181948_132210759	132191738	TGTTCCCA others(320): Show TGTTCCCACCTCTTGTGTACACACTGGTCACGTGGTATCCAGGCAGGTGC AAATAGTTCCCAGCTCGTGTGTACACACTGGTCACGTGGTATCCAGGCAG TTGAAAGTATGTTCCCAGCTCGTGTGTACACGCTGGTCATGTGGTATCCA GGCAGATGAACATAGTTCCCAGCTCGTGTGTACACGCTGGTCACATGGTA TCCAGGCAGGTGAAAGTATGTTCCCAGCTCGTGTGTACACGCTGGTCACG TGGTATCCAGGCAGGTGAAAGTATGTTCCCAGCTCGTGTGTACACGCTGG TCACGTGGTATCCAGGCAGGTGAAAATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp2 others(106): Show HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01884.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18964.hp2 NA18965.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18997.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19059.hp2 NA19060.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19077.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0016 a0001c0017 a0001c0026 a0002c0005 a0003c0008 a0003c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0003t0005 a0001c0007t0001 a0001c0016t0012 a0001c0017t0006 a0001c0026t0001 a0002c0005t0009 a0002c0005t0022 a0003c0008t0007 a0003c0025t0007	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0022 others(65): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0198 a0001c0001t0004g0035 a0001c0001t0006g0001 a0001c0001t0006g0118 a0001c0001t0006g0120 a0001c0001t0006g0122 a0001c0001t0006g0127 a0001c0001t0009g0010 a0001c0001t0012g0019 a0001c0001t0012g0181 a0001c0001t0016g0006 a0001c0001t0021g0024 a0001c0001t0029g0006 a0001c0002t0001g0002 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0049 a0001c0002t0001g0107 a0001c0002t0001g0128 a0001c0002t0001g0139 a0001c0002t0001g0144 a0001c0002t0001g0158 a0001c0002t0002g0150 a0001c0002t0014g0007 a0001c0003t0005g0064 a0001c0003t0005g0065 a0001c0007t0001g0030 a0001c0007t0001g0138 a0001c0016t0012g0019 a0001c0017t0006g0117 a0001c0026t0001g0015 a0002c0005t0009g0010 a0002c0005t0009g0077 a0002c0005t0009g0078 a0002c0005t0009g0079 a0002c0005t0009g0082 a0002c0005t0009g0083 a0002c0005t0009g0084 a0002c0005t0009g0085 a0002c0005t0009g0087 a0002c0005t0022g0080 a0003c0008t0007g0012 a0003c0025t0007g0186	109	418	0.2608	-327	c.128 others(15): Show c.128+911_129-586del	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ELMO1_chr7_36847906_37453864	37437674	TGAAATAT others(320): Show TGAAATATACAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG00741.hp2 others(59): Show HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03927.hp1 HG03927.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA19000.hp1 NA19000.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0003t0002 a0001c0003t0008 a0001c0004t0002 a0001c0005t0002 a0001c0005t0007 a0001c0006t0004 a0001c0007t0001 a0002c0008t0004	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0040 others(59): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0030 a0001c0001t0003g0017 a0001c0001t0003g0026 a0001c0001t0003g0044 a0001c0001t0003g0072 a0001c0001t0004g0007 a0001c0001t0004g0036 a0001c0001t0004g0046 a0001c0001t0004g0057 a0001c0001t0004g0063 a0001c0001t0004g0080 a0001c0001t0005g0006 a0001c0001t0005g0027 a0001c0001t0005g0073 a0001c0001t0005g0075 a0001c0001t0006g0004 a0001c0001t0008g0059 a0001c0001t0008g0092 a0001c0001t0010g0084 a0001c0001t0013g0078 a0001c0001t0016g0060 a0001c0002t0001g0010 a0001c0002t0001g0054 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0081 a0001c0002t0002g0033 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0003g0013 a0001c0002t0003g0028 a0001c0002t0003g0032 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0077 a0001c0002t0004g0023 a0001c0002t0004g0047 a0001c0002t0005g0031 a0001c0002t0007g0001 a0001c0002t0007g0018 a0001c0002t0009g0069 a0001c0002t0011g0039 a0001c0003t0002g0020 a0001c0003t0002g0035 a0001c0003t0002g0050 a0001c0003t0002g0076 a0001c0003t0008g0045 a0001c0004t0002g0003 a0001c0004t0002g0086 a0001c0005t0002g0042 a0001c0005t0007g0016 a0001c0006t0004g0058 a0001c0007t0001g0015 a0002c0008t0004g0034	62	92	0.6739	-327	c.-74 others(19): Show c.-74+10674_-74+11000del	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	1/21			chr7	TogoVar
EPHX1_chr1_225805124_225850563	225815112	CACAGCCA others(320): Show CACAGCCACCAGGTGGAAGAAGCAACCCTGCCCTCTTCCGGTTCCATGTG TGCCTCACTGAGGCAGGACTTCCAGACCCTACCAGGAAGGCTGCTATCCG GGTCATAGTGATACCCTGTCAGGACATCGTTGTTTTTGTCTTGTTTTTTT TTGAGACAGGGTCTGGCTCTGTTGTCCAGGCTGGAGTGCAGTGGCGCCAT CTCAGCTGTCTGCAAACTCCGCCCCACCAGGCTCAAGCCATCCTCAGCCT CCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCCAGCTAATTTTC TTTTTTTTTTTTTTTTTTTTTTGTAGAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00558.hp2 others(85): Show HG00099.hp1 HG00280.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp1 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03098.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03669.hp1 HG03834.hp1 HG04199.hp1 HG06807.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp2 NA19000.hp1 NA19012.hp1 NA19066.hp2 NA19080.hp2 NA19082.hp1 NA19085.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(17): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0015 a0001c0018 a0001c0022 a0001c0028 a0001c0029 a0001c0035 a0001c0046 a0001c0047 a0002c0002 a0002c0006 a0002c0013 a0002c0025 a0002c0030 a0003c0005 a0003c0007 a0004c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 a0001c0011t0001 a0001c0015t0001 a0001c0018t0001 a0001c0022t0001 a0001c0028t0002 a0001c0029t0001 a0001c0035t0001 a0001c0046t0001 a0001c0047t0001 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0002c0013t0001 a0002c0025t0001 a0002c0030t0001 a0003c0005t0001 a0003c0007t0001 a0004c0041t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0017 others(79): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0320 a0001c0001t0001g0325 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0377 a0001c0001t0001g0379 a0001c0001t0001g0393 a0001c0001t0001g0394 a0001c0001t0001g0398 a0001c0001t0001g0399 a0001c0001t0002g0307 a0001c0001t0002g0380 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0003t0001g0287 a0001c0003t0001g0294 a0001c0003t0001g0323 a0001c0004t0001g0321 a0001c0004t0001g0322 a0001c0004t0001g0327 a0001c0004t0001g0383 a0001c0011t0001g0316 a0001c0015t0001g0016 a0001c0015t0001g0286 a0001c0015t0001g0303 a0001c0018t0001g0382 a0001c0018t0001g0386 a0001c0018t0001g0390 a0001c0018t0001g0396 a0001c0022t0001g0004 a0001c0028t0002g0329 a0001c0028t0002g0330 a0001c0029t0001g0335 a0001c0035t0001g0326 a0001c0046t0001g0305 a0001c0047t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0317 a0002c0002t0001g0319 a0002c0002t0001g0387 a0002c0002t0002g0374 a0002c0002t0002g0378 a0002c0002t0002g0384 a0002c0002t0002g0385 a0002c0002t0002g0388 a0002c0002t0002g0389 a0002c0002t0002g0391 a0002c0002t0002g0392 a0002c0002t0002g0395 a0002c0006t0001g0282 a0002c0006t0001g0328 a0002c0006t0001g0334 a0002c0013t0001g0318 a0002c0025t0001g0324 a0002c0030t0001g0397 a0003c0005t0001g0293 a0003c0005t0001g0295 a0003c0005t0001g0300 a0003c0005t0001g0381 a0003c0007t0001g0302 a0004c0041t0001g0298	88	422	0.2085	-327	c.-6+ others(15): Show c.-6+4947_-6+5273del	EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ERICH1_chr8_659200_736224	675733	GTGAGGAC others(320): Show GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGA CGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCT CGTGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	378	0.0027	-327	c.305 others(17): Show c.305-2013_305-1687del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC3L4_chr14_103089725_103115559	103109184	TCTCCCTC others(320): Show TCTCCCTCGCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCAC CCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGT CTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTG CCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCC TCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCT CCACCCTGCCCCCATGTCTCCCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03041.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1	a0001 a0008 a0001 a0008	a0001c0061 a0008c0012 a0001c0061 a0008c0012	a0001c0061t0001 a0008c0012t0001 a0001c0061t0001 a0008c0012t0001	a0001c0061t0001g0260 a0008c0012t0001g0244 a0008c0012t0001g0245 a0001c0061t0001g0260 a0008c0012t0001g0244 a0008c0012t0001g0245	3	404	0.0074	-327	c.197 others(17): Show c.1976+675_1977-513del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109192	GCCACCCT others(320): Show GCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCC CGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCC CTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCC ACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATG TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTG CCCCCATGTCTCCCTCCTCCCTCCCTCT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0214 a0005c0004t0001g0214	1	404	0.0025	-327	c.197 others(17): Show c.1976+721_1977-467del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
F10_chr13_113117799_113154529	113136622	TAATTCTT others(320): Show TAATTCTTGTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(338): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18956.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 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0015 a0002c0003 a0002c0008 a0003c0005 a0004c0014 a0006c0010 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0012t0001 a0001c0015t0001 a0002c0003t0001 a0002c0008t0001 a0003c0005t0001 a0004c0014t0001 a0006c0010t0001 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(310): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0371 a0001c0001t0002g0132 a0001c0001t0002g0154 a0001c0001t0002g0310 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0024 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0153 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0165 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0176 a0001c0002t0001g0190 a0001c0002t0001g0195 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0206 a0001c0002t0001g0209 a0001c0002t0001g0213 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0249 a0001c0002t0001g0254 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0268 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0277 a0001c0002t0001g0282 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0289 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0309 a0001c0002t0001g0313 a0001c0002t0001g0324 a0001c0002t0001g0326 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0001g0340 a0001c0002t0001g0342 a0001c0002t0001g0344 a0001c0002t0001g0348 a0001c0002t0001g0356 a0001c0002t0001g0365 a0001c0002t0001g0369 a0001c0002t0001g0370 a0001c0002t0001g0374 a0001c0002t0002g0346 a0001c0004t0001g0291 a0001c0004t0001g0292 a0001c0004t0001g0293 a0001c0004t0001g0295 a0001c0004t0001g0296 a0001c0004t0001g0297 a0001c0004t0001g0298 a0001c0004t0001g0372 a0001c0006t0001g0290 a0001c0006t0001g0302 a0001c0006t0001g0303 a0001c0007t0001g0044 a0001c0007t0001g0163 a0001c0009t0001g0047 a0001c0012t0001g0128 a0001c0015t0001g0008 a0002c0003t0001g0002 a0002c0003t0001g0020 a0002c0003t0001g0278 a0002c0003t0001g0279 a0002c0003t0001g0281 a0002c0003t0001g0286 a0002c0003t0001g0366 a0002c0003t0001g0367 a0002c0008t0001g0280 a0003c0005t0001g0027 a0003c0005t0001g0368 a0003c0005t0001g0373 a0004c0014t0001g0127 a0006c0010t0001g0011 a0007c0011t0001g0180	341	412	0.8277	-327	c.232 others(17): Show c.232-1819_232-1493del	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FBXO48_chr2_68454422_68472294	68461268	TAAGATCC others(320): Show TAAGATCCGTTTTCGTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03486.hp1 HG03195.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0046 a0001c0001t0045 a0001c0001t0046	a0001c0001t0045g0023 a0001c0001t0046g0024 a0001c0001t0045g0023 a0001c0001t0046g0024	2	234	0.0086	-327	c.26 others(11): Show c.2614_*2940del	FBXO48	ENSG00000204923.4	transcript	ENST00000377957.4	protein_coding	4/4	2614		chr2	TogoVar
FMNL2_chr2_152330174_152654826	152348808	GCTTCTAA others(320): Show GCTTCTAAGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCACAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCCAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01109.hp2 others(16): Show HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01884.hp2 HG02109.hp1 HG02258.hp2 HG02486.hp2 HG02698.hp2 HG02970.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03579.hp2 HG03834.hp2 HG04199.hp1 HG04228.hp2 NA18941.hp2 NA18969.hp2 NA19060.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0003 a0001c0005 others(10): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0002c0002 a0002c0009 a0002c0012 a0002c0033 a0002c0036 a0003c0011 a0003c0018 a0004c0021 a0010c0044	a0001c0001t0002 a0001c0001t0015 a0001c0003t0003 others(14): Show a0001c0001t0002 a0001c0001t0015 a0001c0003t0003 a0001c0005t0003 a0001c0010t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0002t0011 a0002c0009t0002 a0002c0012t0001 a0002c0033t0002 a0002c0036t0001 a0003c0011t0002 a0003c0018t0003 a0004c0021t0002 a0010c0044t0001	a0001c0001t0002g0147 a0001c0001t0002g0160 a0001c0001t0015g0150 others(16): Show a0001c0001t0002g0147 a0001c0001t0002g0160 a0001c0001t0015g0150 a0001c0003t0003g0149 a0001c0005t0003g0162 a0001c0010t0002g0148 a0002c0002t0001g0002 a0002c0002t0001g0191 a0002c0002t0002g0161 a0002c0002t0010g0085 a0002c0002t0011g0151 a0002c0009t0002g0018 a0002c0012t0001g0163 a0002c0033t0002g0154 a0002c0036t0001g0199 a0003c0011t0002g0190 a0003c0018t0003g0146 a0004c0021t0002g0193 a0010c0044t0001g0155	19	200	0.0950	-327	c.117 others(19): Show c.117+13103_117+13429del	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FREM3_chr4_143572302_143705675	143652134	TCTTTTTC others(320): Show TCTTTTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(114): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp2 HG01168.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18943.hp2 NA18946.hp2 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA19004.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19089.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0006 a0007 a0009 a0013 a0014 a0020 a0021 a0022 a0023 a0026 a0027	a0001c0001 a0001c0028 a0002c0002 others(12): Show a0001c0001 a0001c0028 a0002c0002 a0003c0003 a0006c0007 a0007c0008 a0009c0015 a0013c0017 a0014c0018 a0020c0033 a0021c0032 a0022c0031 a0023c0029 a0026c0023 a0027c0025	a0001c0001t0001 a0001c0001t0003 a0001c0028t0001 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0028t0001 a0002c0002t0001 a0003c0003t0001 a0006c0007t0001 a0007c0008t0001 a0009c0015t0001 a0013c0017t0001 a0014c0018t0001 a0020c0033t0001 a0021c0032t0004 a0022c0031t0001 a0023c0029t0001 a0026c0023t0001 a0027c0025t0001	a0001c0001t0001g0005 a0001c0001t0001g0119 a0001c0001t0001g0120 others(112): Show a0001c0001t0001g0005 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0028t0001g0111 a0002c0002t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0031 a0002c0002t0001g0042 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0003c0003t0001g0096 a0003c0003t0001g0105 a0003c0003t0001g0108 a0006c0007t0001g0006 a0006c0007t0001g0250 a0006c0007t0001g0252 a0006c0007t0001g0253 a0006c0007t0001g0254 a0007c0008t0001g0137 a0007c0008t0001g0145 a0007c0008t0001g0148 a0009c0015t0001g0072 a0009c0015t0001g0073 a0013c0017t0001g0173 a0013c0017t0001g0208 a0014c0018t0001g0244 a0014c0018t0001g0245 a0020c0033t0001g0242 a0021c0032t0004g0153 a0022c0031t0001g0146 a0023c0029t0001g0232 a0026c0023t0001g0068 a0027c0025t0001g0071	117	260	0.4500	-327	c.527 others(21): Show c.5276-24701_5276-24375del	FREM3	ENSG00000183090.5	transcript	ENST00000329798.5	protein_coding	2/7			chr4	TogoVar
GNA14_chr9_77418079_77653322	77595153	ATCTTTTA others(320): Show ATCTTTTATATTTGCATTCTCCACATCACTTGGCACAGTCCAGCAGTACA GAGCTGATGCTTGGTGAATATTTGTTAAGTTAATGTTTGGATTTATTCCT TGGCTTAGGTCATCAAGGAATTGAGGAGACTAGGTGGATAAATTATAAAT GGGAATGTGCCTGCTCAACACCAAAGAGGCCATCATAGCTTCGTGAGCAC AGAAGATGATTCTTCATGACAAATGCCTTCAATATTTCTTTCCAGCTCTT TGTGAATACTGAGAACCACCATTTATTGAGGGCTGCTGTGCTGAGTGCAA CATACACACACCTCATCCTGTAGAAGAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	240	0.0042	-327	c.124 others(19): Show c.124+52190_124+52516del	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6			chr9	TogoVar
GRIK2_chr6_101388708_102075083	101759840	GCAGCATT others(320): Show GCAGCATTTTATTTTTTTTATTTTTTTATTTATTTTTATTTTTATTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02922.hp1 HG03209.hp1 others(1): Show HG02895.hp2 HG02922.hp1 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0002 a0001c0001t0018 a0001c0002t0014 others(1): Show a0001c0001t0002 a0001c0001t0018 a0001c0002t0014 a0001c0008t0004	a0001c0001t0002g0030 a0001c0001t0018g0015 a0001c0002t0014g0018 others(1): Show a0001c0001t0002g0030 a0001c0001t0018g0015 a0001c0002t0014g0018 a0001c0008t0004g0105	4	116	0.0345	-327	c.952 others(19): Show c.952-39791_952-39465del	GRIK2	ENSG00000164418.22	transcript	ENST00000369134.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGDCC3_chr15_65322127_65383002	65324730	GATTATAC others(320): Show GATTATACGCGTGAGCCACTGCACCCAGCCTTATTTTCGTGGGGTTTTTT GTTGTTGTTGTTTTGTTTTTTTTTGAGACAGAGTCTCGTTCTGTCACCCA GGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAGCCTCTGCCTCCCC GATTCAAGCAGTTCTACTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGG CATGCACTACCACGCCTGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGG TTTCTCCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGTGATCT GCCCACCTTGACCTCCCAAGGTGCTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	314	0.0032	-327	c.38 others(11): Show c.3852_*4178del	IGDCC3	ENSG00000174498.14	transcript	ENST00000327987.9	protein_coding		2396		chr15	TogoVar
IPO11_chr5_62407763_62633582	62513125	CGGGCAGA others(320): Show CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCAGCTCCCGGACCGGGTGGCTGGCCAGGCGGGGCGCTGACCCCCCC ATCTCCCTCCCAGACGGGGCGGGTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGTGGGGCTGACCCCCCCAC CTCCCTCCCAGACGGGGCGGCTGGCTGGGCGGGGGGCTGAGCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGAGGGGGCGCTGACCCCCCCCCC ACCTCCCTCCCGGACGGAGCGGCTGGCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0155 a0001c0001t0008g0155	1	330	0.0030	-327	c.178 others(19): Show c.1783-2207_1783-1881del	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	19/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNJ6_chr21_37602373_37921457	37757140	ACTCCCTC others(320): Show ACTCCCTCACAGAATCCAGCTTGGAGTGAGCACTCCCTCACAGTGTGATG GTACCAGCCTTGGTGAGCTGTCTCTCACAGTGTGATGATTCCAGCCTGGA GTGAGCACTCCCTCACAGTGTGATGATTCCAGCCTGGAGTGAGCACTCCC TCACAGCTATGATGTTTCCAGCCTAAGTGAGCACTCCTTCACTGATTCCA GCCCGGAGTGAGCACTCCCTCACAGTGTGATGATTCCAGCCTGGAGTGTG CTCTCCCTCACAGTGTGATGATTCCAGCCCAGAGTGAGCACTCTCTCACA GTGTGATGATTCCAGCCCGGAGTGAGCT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01975.hp2 HG01891.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0162 a0001c0001t0173 a0001c0001t0162 a0001c0001t0173	a0001c0001t0162g0017 a0001c0001t0173g0128 a0001c0001t0162g0017 a0001c0001t0173g0128	2	198	0.0101	-327	c.26- others(17): Show c.26-42336_26-42010del	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
MEF2C_chr5_88712117_88888184	88747322	TTTTTTTA others(320): Show TTTTTTTACTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00639.hp1 others(41): Show HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00733.hp1 HG01069.hp1 HG01081.hp2 HG01123.hp2 HG01169.hp2 HG01243.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01981.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03098.hp1 HG03490.hp1 HG03654.hp1 HG03688.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18982.hp2 NA18992.hp1 NA19030.hp2 NA19065.hp2 NA19074.hp2 NA19086.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036	a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0002g0020 others(41): Show a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0002g0020 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0073 a0001c0001t0002g0102 a0001c0001t0002g0132 a0001c0001t0002g0162 a0001c0001t0002g0174 a0001c0001t0002g0234 a0001c0001t0004g0009 a0001c0001t0004g0071 a0001c0001t0004g0080 a0001c0001t0004g0108 a0001c0001t0004g0136 a0001c0001t0004g0164 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0298 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0007g0018 a0001c0001t0007g0300 a0001c0001t0007g0301 a0001c0001t0011g0053 a0001c0001t0011g0054 a0001c0001t0011g0055 a0001c0001t0015g0081 a0001c0001t0015g0089 a0001c0001t0016g0074 a0001c0001t0016g0079 a0001c0001t0020g0004 a0001c0001t0029g0019 a0001c0001t0030g0109 a0001c0001t0034g0012 a0001c0001t0035g0085 a0001c0001t0036g0015	44	302	0.1457	-327	c.637 others(17): Show c.637+1421_637+1747del	MEF2C	ENSG00000081189.17	transcript	ENST00000504921.7	protein_coding	6/10			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023447	TGTGGGCG others(320): Show TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CTCAGCCCGTTGTCTCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCG TTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCATTGCCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCA GCCCATTGTCCCTGCTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	319	0.0031	-327	c.142 others(17): Show c.142-8704_142-8378del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023570	TGTGGGCG others(320): Show TGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCA TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGCCCCTG CTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCA CTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTG GGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCA GCCCATTGTCCCTGCTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0018 a0007c0014t0018	a0007c0014t0018g0104 a0007c0014t0018g0104	1	319	0.0031	-327	c.142 others(17): Show c.142-8581_142-8255del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NXPH1_chr7_8428609_8757961	8710634	TGTTACGT others(320): Show TGTTACGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA CTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00621.hp2 others(40): Show HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00741.hp2 HG01081.hp2 HG01123.hp1 HG01978.hp2 HG02055.hp1 HG02109.hp2 HG02148.hp1 HG02280.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG04199.hp1 NA18939.hp2 NA18950.hp2 NA18971.hp1 NA18989.hp2 NA19003.hp1 NA19030.hp1 NA19043.hp2 NA19064.hp2 NA19084.hp1 NA19087.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0021 others(40): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0087 a0001c0001t0002g0178 a0001c0001t0003g0058 a0001c0001t0003g0133 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0004g0062 a0001c0001t0004g0071 a0001c0001t0005g0048 a0001c0001t0005g0164 a0001c0001t0009g0137 a0001c0001t0009g0138 a0001c0001t0015g0201 a0001c0002t0001g0195	43	208	0.2067	-327	c.55- others(17): Show c.55-40367_55-40041del	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
OR9Q2_chr11_58184070_58199053	58195356	TCTTCTTG others(320): Show TCTTCTTGTATACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp2 others(219): Show HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03239.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0011 others(1): Show a0001c0001 a0001c0002 a0003c0011 a0004c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0002t0004 a0001c0002t0010 a0001c0002t0015 a0001c0002t0021 a0001c0002t0031 a0001c0002t0046 a0001c0002t0047 a0003c0011t0004 a0004c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0005g0001 a0001c0001t0005g0011 a0001c0001t0011g0001 a0001c0001t0016g0001 a0001c0001t0017g0001 a0001c0001t0023g0001 a0001c0001t0024g0001 a0001c0001t0032g0001 a0001c0001t0033g0001 a0001c0001t0034g0001 a0001c0001t0035g0001 a0001c0001t0036g0001 a0001c0002t0004g0002 a0001c0002t0004g0010 a0001c0002t0010g0002 a0001c0002t0015g0002 a0001c0002t0021g0002 a0001c0002t0031g0002 a0001c0002t0046g0002 a0001c0002t0047g0002 a0003c0011t0004g0002 a0004c0010t0001g0001	222	418	0.5311	-327	c.39 others(11): Show c.3922_*4248del	OR9Q2	ENSG00000186513.4	transcript	ENST00000641291.1	protein_coding		1304		chr11	TogoVar
PKD1L1_chr7_47769614_47953466	47855572	TAGAAAAG others(320): Show TAGAAAAGTATATGCAAGAGTGGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTATAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01109.hp1 others(52): Show HG00099.hp1 HG00323.hp2 HG01109.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18994.hp1 NA19080.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0009 others(24): Show a0001 a0007 a0009 a0010 a0016 a0017 a0019 a0021 a0022 a0023 a0025 a0027 a0030 a0031 a0033 a0034 a0041 a0045 a0047 a0051 a0052 a0061 a0069 a0070 a0072 a0083 a0086	a0001c0038 a0001c0075 a0001c0135 others(33): Show a0001c0038 a0001c0075 a0001c0135 a0001c0137 a0007c0041 a0009c0099 a0010c0005 a0016c0022 a0016c0142 a0017c0026 a0017c0106 a0019c0027 a0019c0119 a0021c0066 a0022c0034 a0022c0074 a0023c0146 a0025c0030 a0027c0064 a0027c0065 a0030c0042 a0031c0097 a0031c0143 a0033c0045 a0034c0047 a0041c0095 a0045c0071 a0047c0138 a0051c0087 a0052c0084 a0061c0096 a0069c0153 a0070c0107 a0072c0160 a0083c0098 a0086c0144	a0001c0038t0001 a0001c0075t0001 a0001c0135t0001 others(34): Show a0001c0038t0001 a0001c0075t0001 a0001c0135t0001 a0001c0137t0001 a0007c0041t0001 a0009c0099t0001 a0010c0005t0001 a0010c0005t0002 a0016c0022t0001 a0016c0142t0003 a0017c0026t0001 a0017c0106t0001 a0019c0027t0001 a0019c0119t0001 a0021c0066t0001 a0022c0034t0001 a0022c0074t0001 a0023c0146t0001 a0025c0030t0002 a0027c0064t0001 a0027c0065t0003 a0030c0042t0001 a0031c0097t0001 a0031c0143t0001 a0033c0045t0002 a0034c0047t0003 a0041c0095t0001 a0045c0071t0001 a0047c0138t0001 a0051c0087t0001 a0052c0084t0001 a0061c0096t0002 a0069c0153t0001 a0070c0107t0001 a0072c0160t0001 a0083c0098t0002 a0086c0144t0001	a0001c0038t0001g0025 a0001c0038t0001g0056 a0001c0075t0001g0148 others(52): Show a0001c0038t0001g0025 a0001c0038t0001g0056 a0001c0075t0001g0148 a0001c0135t0001g0083 a0001c0137t0001g0080 a0007c0041t0001g0037 a0007c0041t0001g0136 a0009c0099t0001g0164 a0010c0005t0001g0259 a0010c0005t0001g0260 a0010c0005t0001g0274 a0010c0005t0001g0286 a0010c0005t0001g0294 a0010c0005t0002g0009 a0010c0005t0002g0258 a0016c0022t0001g0230 a0016c0022t0001g0231 a0016c0022t0001g0232 a0016c0142t0003g0237 a0017c0026t0001g0197 a0017c0026t0001g0199 a0017c0026t0001g0215 a0017c0106t0001g0166 a0019c0027t0001g0068 a0019c0027t0001g0156 a0019c0027t0001g0158 a0019c0119t0001g0154 a0021c0066t0001g0010 a0022c0034t0001g0093 a0022c0034t0001g0142 a0022c0074t0001g0141 a0023c0146t0001g0244 a0025c0030t0002g0301 a0025c0030t0002g0304 a0027c0064t0001g0027 a0027c0065t0003g0018 a0030c0042t0001g0151 a0030c0042t0001g0152 a0031c0097t0001g0233 a0031c0143t0001g0026 a0033c0045t0002g0225 a0033c0045t0002g0226 a0034c0047t0003g0061 a0034c0047t0003g0062 a0041c0095t0001g0236 a0045c0071t0001g0123 a0047c0138t0001g0084 a0051c0087t0001g0043 a0052c0084t0001g0150 a0061c0096t0002g0234 a0069c0153t0001g0282 a0070c0107t0001g0169 a0072c0160t0001g0287 a0083c0098t0002g0007 a0086c0144t0001g0291	55	306	0.1797	-327	c.459 others(17): Show c.4591-634_4591-308del	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	28/56			chr7	TogoVar
PRDM15_chr21_41793225_41884344	41814159	TTTATGAG others(320): Show TTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTT ATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTGCCCTAGTGTTTTATG AGAATGCCTCGTGTTACTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGA ATGCCTCGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTGTTATGAGAATG CCTCGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTGAGAATGCCTTG TGTTAGTGATTGCACAGGGTGCTCTAGTGTTTTATGAGAACGACTTGTGT TAGTGATTGCGCAGGGTGCTCTAGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00639.hp1 others(5): Show HG00099.hp2 HG00140.hp1 HG00639.hp1 HG01243.hp2 HG02132.hp1 HG03704.hp1 HG03927.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0014 a0001c0001t0017 a0001c0006t0014 others(1): Show a0001c0001t0014 a0001c0001t0017 a0001c0006t0014 a0001c0006t0017	a0001c0001t0014g0149 a0001c0001t0014g0152 a0001c0001t0014g0154 others(5): Show a0001c0001t0014g0149 a0001c0001t0014g0152 a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0017g0160 a0001c0001t0017g0161 a0001c0006t0014g0184 a0001c0006t0017g0136	8	406	0.0197	-327	c.239 others(19): Show c.2392+1219_2392+1545del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
PRKCZ_chr1_2045411_2190395	2122574	GGTTAGGG others(320): Show GGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGG TGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTG GTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAG GGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGG TTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGG GTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGT CACGGTGGTGGTTAGGGTCACGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	286	0.0035	-327	c.335 others(19): Show c.335-12679_335-12353del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)