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
SHISAL1_chr22_44238665_44317951	44306277	GTGTGTGG others(308): Show GTGTGTGGAGGGGACCTGGGCTCAGGGAGCTGTGATGACGATGGCATGTG TGGAGGGTACCTGGGCTCGGGGAGCTGTGATGACGATGGCGTGTGCGGAG GGGAACTGAGCTCGGGGAGCTGTGATGACGATGGCGTGTGCAGAGGGGAC CTGGGCTCAGGGGGCTGTGATGATGATGGTGTGTGTGGAGGAGACCTGGG CTCAGGGAGCTGTGATGACGATGGCATGTGTAGAGGGTACCTGGGCTCGG GGAGCTCTGATGACGATGGCATGTGTGGAGGGGAACTGAGCTCGGGGAGC TGTGATGACGATGGCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00597.hp2 others(37): Show HG00280.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp2 HG00741.hp2 HG01070.hp2 HG01192.hp1 HG01255.hp2 HG01358.hp2 HG01515.hp1 HG01943.hp1 HG01993.hp2 HG02056.hp1 HG02083.hp2 HG02132.hp2 HG02165.hp2 HG03239.hp2 HG03927.hp1 HG03927.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18949.hp2 NA18961.hp1 NA18961.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18986.hp2 NA18989.hp2 NA18994.hp2 NA19000.hp2 NA19005.hp2 NA19010.hp1 NA19057.hp2 NA19064.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0010 others(35): Show a0001c0003 a0001c0009 a0001c0010 a0001c0016 a0001c0021 a0001c0024 a0001c0072 a0001c0074 a0001c0077 a0001c0083 a0001c0084 a0001c0091 a0001c0094 a0001c0097 a0001c0099 a0001c0127 a0001c0128 a0001c0156 a0001c0157 a0001c0159 a0001c0169 a0001c0208 a0001c0209 a0001c0210 a0001c0211 a0001c0227 a0001c0233 a0001c0269 a0001c0276 a0001c0277 a0001c0278 a0001c0282 a0001c0286 a0001c0289 a0001c0303 a0001c0312 a0001c0316 a0001c0318	a0001c0003t0072 a0001c0009t0055 a0001c0010t0005 others(35): Show a0001c0003t0072 a0001c0009t0055 a0001c0010t0005 a0001c0016t0001 a0001c0021t0002 a0001c0024t0006 a0001c0072t0001 a0001c0074t0001 a0001c0077t0001 a0001c0083t0005 a0001c0084t0006 a0001c0091t0006 a0001c0094t0002 a0001c0097t0002 a0001c0099t0008 a0001c0127t0003 a0001c0128t0003 a0001c0156t0001 a0001c0157t0001 a0001c0159t0001 a0001c0169t0002 a0001c0208t0004 a0001c0209t0071 a0001c0210t0002 a0001c0211t0006 a0001c0227t0035 a0001c0233t0004 a0001c0269t0002 a0001c0276t0004 a0001c0277t0073 a0001c0278t0004 a0001c0282t0004 a0001c0286t0066 a0001c0289t0093 a0001c0303t0002 a0001c0312t0058 a0001c0316t0001 a0001c0318t0008	a0001c0003t0072g0071 a0001c0009t0055g0089 a0001c0010t0005g0333 others(36): Show a0001c0003t0072g0071 a0001c0009t0055g0089 a0001c0010t0005g0333 a0001c0016t0001g0081 a0001c0016t0001g0082 a0001c0021t0002g0009 a0001c0024t0006g0076 a0001c0072t0001g0361 a0001c0074t0001g0362 a0001c0077t0001g0360 a0001c0083t0005g0077 a0001c0084t0006g0078 a0001c0091t0006g0066 a0001c0094t0002g0074 a0001c0097t0002g0106 a0001c0099t0008g0107 a0001c0127t0003g0085 a0001c0128t0003g0086 a0001c0156t0001g0272 a0001c0157t0001g0088 a0001c0159t0001g0358 a0001c0169t0002g0080 a0001c0208t0004g0233 a0001c0209t0071g0091 a0001c0210t0002g0332 a0001c0211t0006g0090 a0001c0227t0035g0075 a0001c0233t0004g0354 a0001c0269t0002g0232 a0001c0276t0004g0357 a0001c0277t0073g0072 a0001c0278t0004g0359 a0001c0282t0004g0087 a0001c0286t0066g0231 a0001c0289t0093g0105 a0001c0303t0002g0084 a0001c0312t0058g0083 a0001c0316t0001g0073 a0001c0318t0008g0079	40	380	0.1053	-315	c.-32 others(17): Show c.-32-5615_-32-5301del	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44306301	GGGAGCTG others(308): Show GGGAGCTGTGATGACGATGGCATGTGTGGAGGGTACCTGGGCTCGGGGAG CTGTGATGACGATGGCGTGTGCGGAGGGGAACTGAGCTCGGGGAGCTGTG ATGACGATGGCGTGTGCAGAGGGGACCTGGGCTCAGGGGGCTGTGATGAT GATGGTGTGTGTGGAGGAGACCTGGGCTCAGGGAGCTGTGATGACGATGG CATGTGTAGAGGGTACCTGGGCTCGGGGAGCTCTGATGACGATGGCATGT GTGGAGGGGAACTGAGCTCGGGGAGCTGTGATGACGATGGCATGTGTGGA GGGGAACTGGGCTCAA	G G	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0098 a0001c0098	a0001c0098t0008 a0001c0098t0008	a0001c0098t0008g0092 a0001c0098t0008g0092	1	380	0.0026	-315	c.-32 others(17): Show c.-32-5639_-32-5325del	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SLC24A2_chr9_19502455_19794037	19642665	CGTATTCT others(308): Show CGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTCGCT CTTTCGCCCAGTCTGGACTGCAGTGGCACTATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCAAGCCATTCTTCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTGTGCCCAGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCT CGTGATCTGCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGTGCCTGGCCA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19240.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0024 a0001c0008t0044 a0001c0001t0024 a0001c0008t0044	a0001c0001t0024g0159 a0001c0008t0044g0083 a0001c0001t0024g0159 a0001c0008t0044g0083	2	188	0.0106	-315	c.931 others(19): Show c.931-20681_931-20367del	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
SLC9A3_chr5_465456_529449	495377	GCTCCCCG others(308): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATC GCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCAC GCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCG CCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTC CCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCC CCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGA CCCTCCCCACGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01099.hp1 HG01109.hp1 others(13): Show HG00408.hp2 HG01099.hp1 HG01109.hp1 HG01517.hp2 HG02040.hp2 HG02056.hp2 HG02165.hp1 HG02523.hp2 HG02602.hp2 HG02896.hp1 HG03710.hp2 HG04115.hp2 HG06807.hp1 NA18942.hp1 NA18945.hp2 NA18975.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0001c0008 a0001c0009 others(3): Show a0001c0003 a0001c0008 a0001c0009 a0001c0025 a0002c0002 a0005c0013	a0001c0003t0009 a0001c0008t0001 a0001c0008t0005 others(6): Show a0001c0003t0009 a0001c0008t0001 a0001c0008t0005 a0001c0009t0009 a0001c0025t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0029 a0005c0013t0003	a0001c0003t0009g0007 a0001c0008t0001g0158 a0001c0008t0005g0208 others(13): Show a0001c0003t0009g0007 a0001c0008t0001g0158 a0001c0008t0005g0208 a0001c0008t0005g0216 a0001c0009t0009g0090 a0001c0025t0001g0083 a0002c0002t0002g0036 a0002c0002t0002g0075 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0110 a0002c0002t0003g0172 a0002c0002t0003g0183 a0002c0002t0029g0179 a0005c0013t0003g0167 a0005c0013t0003g0207	16	218	0.0734	-315	c.212 others(17): Show c.212-3621_212-3307del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SPATC1L_chr21_46156160_46189459	46170534	ACATCCTC others(308): Show ACATCCTCTGTGGATGTGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGT GGTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGG AGCTTCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCCTG CTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCA TCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGA TGGGGAGGAGCCCTCTGCTCTCTGAACATCCTCTGTGGATGGGGAGGAGC CTCCCTGCTCTGTGAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19043.hp2 HG02451.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0042 a0002c0002t0003g0047 a0002c0002t0003g0042 a0002c0002t0003g0047	2	251	0.0080	-315	c.194 others(17): Show c.194-2191_194-1877del	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
STK32C_chr10_132202492_132312950	132254408	GAGGAGAG others(308): Show GAGGAGAGTAAAATAAGCCTGCCGCAGGGCGCCGGGAATCAGCACTATGT CACCCCGGCACAATGCGTGCACCCTCCACGAAGGCTGCCCCCAGACCTGG GAGCCCAGGAGAGTAAAATAAGCCTGCCGCAGGGTGCCGGGAGTCAGCAC TATGTCACCCCGGCACAATGCGTGCACCCTCCACGAAGGCTGCCCCCAGA CCTGGGAGCCCAGGAGAGTAAAATAAGCCTGCCGCAGGGCGCCGGGAATC AGCACTATGTCACCCCGGCACAATGCGTGCACCCTCCACGAAGGCTGCCC CCAGACCTGGGAGCCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02738.hp1 HG03927.hp1 others(1): Show HG01891.hp2 HG02738.hp1 HG03927.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0003t0001 a0001c0010t0002 a0001c0001t0001 a0001c0003t0001 a0001c0010t0002	a0001c0001t0001g0274 a0001c0003t0001g0065 a0001c0003t0001g0209 others(1): Show a0001c0001t0001g0274 a0001c0003t0001g0065 a0001c0003t0001g0209 a0001c0010t0002g0126	4	368	0.0109	-315	c.263 others(17): Show c.263-8768_263-8454del	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
SUSD1_chr9_112035783_112180297	112140062	TAAAAAAT others(308): Show TAAAAAATACAAAAATTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACCAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCCGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCCAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00741.hp1 others(73): Show HG00280.hp2 HG00323.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp1 NA18945.hp2 NA18963.hp1 NA18973.hp1 NA19011.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0011 a0001c0021 a0002c0010 a0005c0014 a0005c0015	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(18): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0003t0004 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0006t0001 a0001c0006t0003 a0001c0008t0003 a0001c0008t0005 a0001c0009t0002 a0001c0011t0003 a0001c0011t0005 a0001c0021t0001 a0002c0010t0001 a0002c0010t0004 a0005c0014t0001 a0005c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0068 others(73): Show a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0219 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0001g0329 a0001c0001t0006g0072 a0001c0002t0001g0004 a0001c0002t0001g0075 a0001c0002t0003g0066 a0001c0002t0003g0088 a0001c0002t0003g0100 a0001c0002t0003g0117 a0001c0002t0003g0279 a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0087 a0001c0003t0004g0094 a0001c0003t0004g0127 a0001c0005t0001g0142 a0001c0005t0001g0149 a0001c0005t0001g0157 a0001c0005t0001g0164 a0001c0005t0001g0223 a0001c0005t0001g0240 a0001c0005t0001g0267 a0001c0005t0002g0236 a0001c0005t0003g0160 a0001c0005t0004g0241 a0001c0006t0001g0104 a0001c0006t0001g0148 a0001c0006t0001g0168 a0001c0006t0001g0193 a0001c0006t0001g0215 a0001c0006t0003g0103 a0001c0006t0003g0126 a0001c0006t0003g0167 a0001c0006t0003g0217 a0001c0008t0003g0012 a0001c0008t0003g0150 a0001c0008t0003g0180 a0001c0008t0003g0222 a0001c0008t0003g0238 a0001c0008t0005g0009 a0001c0009t0002g0232 a0001c0009t0002g0242 a0001c0009t0002g0281 a0001c0011t0003g0089 a0001c0011t0005g0065 a0001c0011t0005g0073 a0001c0021t0001g0166 a0002c0010t0001g0198 a0002c0010t0001g0199 a0002c0010t0004g0218 a0005c0014t0001g0002 a0005c0015t0001g0001	76	338	0.2249	-315	c.706 others(17): Show c.706+1943_706+2257del	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	5/16			chr9	TogoVar
TMEM132D_chr12_129066726_129909025	129855435	GTGCCCTT others(308): Show GTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAG AGTCCGGGGGAACGGGATGGCTGCCCTTGTAACAGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGG AACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCC CTTGTAACAGAGTCCAGGGGAACGGGATGGGTGCCCTTGTTACGGAGTCC GGGGGAACGGGATGGC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02145.hp1 HG02698.hp1 others(4): Show HG00741.hp2 HG02145.hp1 HG02698.hp1 HG02809.hp2 HG03041.hp2 HG03225.hp1 HG04204.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0002t0004 a0002c0003t0001 a0003c0005t0001	a0001c0001t0002g0021 a0001c0001t0008g0092 a0001c0001t0010g0034 others(4): Show a0001c0001t0002g0021 a0001c0001t0008g0092 a0001c0001t0010g0034 a0001c0002t0004g0009 a0001c0002t0004g0077 a0002c0003t0001g0061 a0003c0005t0001g0019	7	94	0.0745	-315	c.79+ others(17): Show c.79+47511_79+47825del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129855448	AGAGTCCG others(308): Show AGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAAC GGGATGGCTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTT GTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGT CCAGGGGAACGGGATGGGTGCCCTTGTTACGGAGTCCGGGGGAACGGGAT GGCTGCCCTTGTAACG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0057 a0001c0004t0001g0057	1	94	0.0106	-315	c.79+ others(17): Show c.79+47498_79+47812del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129855903	AGAGTCCG others(308): Show AGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAAC GGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTT GTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGAT GGGTGCCCTTGTAACG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03239.hp1 HG02698.hp2 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0011 a0002c0003t0001 a0001c0002t0011 a0002c0003t0001	a0001c0002t0011g0001 a0002c0003t0001g0054 a0001c0002t0011g0001 a0002c0003t0001g0054	2	94	0.0213	-315	c.79+ others(17): Show c.79+47043_79+47357del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129856248	GTAACAGA others(308): Show GTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGAT GGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAAC AGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAAC GGGATGGGTGCCCTTA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0094 a0001c0001t0027g0094	1	94	0.0106	-315	c.79+ others(17): Show c.79+46698_79+47012del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857199	GGGGGAAC others(308): Show GGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGG GTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAACGG GATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTAT AACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGG AACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCC CTTGTAACGGAGTCCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	94	0.0106	-315	c.79+ others(17): Show c.79+45747_79+46061del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TNRC6C_chr17_77953703_78113822	77992201	TAAGATTA others(308): Show TAAGATTAAGCAAAACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACAGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp2 others(161): Show HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18990.hp1 NA18994.hp2 NA18998.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0012 a0013 a0016 a0017	a0001c0001 a0001c0002 a0001c0004 others(18): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0002c0003 a0002c0014 a0003c0012 a0003c0021 a0003c0022 a0003c0030 a0006c0011 a0007c0013 a0008c0028 a0009c0015 a0012c0019 a0013c0026 a0016c0023 a0017c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(55): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0041 a0001c0001t0043 a0001c0001t0051 a0001c0001t0060 a0001c0002t0002 a0001c0002t0013 a0001c0002t0018 a0001c0002t0031 a0001c0002t0050 a0001c0002t0052 a0001c0002t0059 a0001c0002t0061 a0001c0002t0062 a0001c0004t0006 a0001c0004t0011 a0001c0004t0024 a0001c0004t0026 a0001c0005t0001 a0001c0006t0008 a0001c0006t0032 a0001c0006t0033 a0001c0007t0012 a0001c0009t0016 a0001c0009t0019 a0001c0009t0044 a0002c0003t0003 a0002c0003t0007 a0002c0003t0010 a0002c0003t0020 a0002c0003t0022 a0002c0003t0025 a0002c0003t0056 a0002c0003t0057 a0002c0003t0058 a0002c0014t0004 a0003c0012t0001 a0003c0021t0002 a0003c0022t0021 a0003c0030t0008 a0006c0011t0001 a0007c0013t0003 a0007c0013t0022 a0008c0028t0023 a0009c0015t0027 a0012c0019t0001 a0013c0026t0002 a0016c0023t0045 a0017c0017t0028	a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0001g0106 others(158): Show a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0170 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0004g0124 a0001c0001t0004g0143 a0001c0001t0004g0157 a0001c0001t0004g0172 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0193 a0001c0001t0005g0149 a0001c0001t0005g0154 a0001c0001t0005g0224 a0001c0001t0005g0271 a0001c0001t0009g0155 a0001c0001t0009g0156 a0001c0001t0009g0173 a0001c0001t0016g0142 a0001c0001t0017g0266 a0001c0001t0017g0267 a0001c0001t0019g0141 a0001c0001t0029g0239 a0001c0001t0030g0259 a0001c0001t0034g0188 a0001c0001t0041g0129 a0001c0001t0043g0177 a0001c0001t0051g0105 a0001c0001t0060g0233 a0001c0002t0002g0005 a0001c0002t0002g0104 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0211 a0001c0002t0013g0235 a0001c0002t0013g0236 a0001c0002t0013g0238 a0001c0002t0018g0234 a0001c0002t0018g0237 a0001c0002t0031g0265 a0001c0002t0050g0005 a0001c0002t0052g0121 a0001c0002t0059g0123 a0001c0002t0061g0232 a0001c0002t0062g0231 a0001c0004t0006g0242 a0001c0004t0006g0244 a0001c0004t0006g0246 a0001c0004t0006g0247 a0001c0004t0006g0248 a0001c0004t0006g0249 a0001c0004t0011g0257 a0001c0004t0011g0261 a0001c0004t0011g0262 a0001c0004t0024g0243 a0001c0004t0026g0260 a0001c0005t0001g0001 a0001c0005t0001g0007 a0001c0005t0001g0008 a0001c0005t0001g0009 a0001c0005t0001g0137 a0001c0005t0001g0145 a0001c0005t0001g0146 a0001c0005t0001g0147 a0001c0006t0008g0251 a0001c0006t0008g0253 a0001c0006t0008g0256 a0001c0006t0032g0254 a0001c0006t0033g0252 a0001c0007t0012g0268 a0001c0007t0012g0269 a0001c0007t0012g0270 a0001c0009t0016g0140 a0001c0009t0019g0171 a0001c0009t0044g0153 a0002c0003t0003g0002 a0002c0003t0003g0003 a0002c0003t0003g0011 a0002c0003t0003g0012 a0002c0003t0003g0103 a0002c0003t0003g0126 a0002c0003t0003g0139 a0002c0003t0003g0144 a0002c0003t0003g0151 a0002c0003t0003g0161 a0002c0003t0003g0162 a0002c0003t0003g0163 a0002c0003t0003g0165 a0002c0003t0003g0167 a0002c0003t0003g0178 a0002c0003t0003g0194 a0002c0003t0003g0210 a0002c0003t0007g0125 a0002c0003t0007g0138 a0002c0003t0007g0148 a0002c0003t0007g0164 a0002c0003t0010g0240 a0002c0003t0010g0245 a0002c0003t0010g0250 a0002c0003t0020g0182 a0002c0003t0020g0195 a0002c0003t0022g0183 a0002c0003t0025g0241 a0002c0003t0056g0150 a0002c0003t0057g0158 a0002c0003t0058g0166 a0002c0014t0004g0168 a0002c0014t0004g0169 a0003c0012t0001g0220 a0003c0021t0002g0113 a0003c0022t0021g0130 a0003c0030t0008g0255 a0006c0011t0001g0159 a0006c0011t0001g0160 a0007c0013t0003g0152 a0007c0013t0022g0010 a0008c0028t0023g0258 a0009c0015t0027g0264 a0012c0019t0001g0114 a0013c0026t0002g0118 a0016c0023t0045g0192 a0017c0017t0028g0263	164	276	0.5942	-315	c.-37 others(19): Show c.-37-11952_-37-11638del	TNRC6C	ENSG00000078687.18	transcript	ENST00000696270.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
TPO_chr2_1408463_1548673	1533622	CTCTGTGA others(308): Show CTCTGTGAAACCTCCCCCATCCCTTCCAGTTTGTGCACCCCCCCAAATCC CCCCACTATGTGACACCTCCTCAAATCCCCCCACTGTGAGCAACCTCCTG AAATCCCTCTCACTGCGTGCAACTTCCTCAAATTCCTCCCCCACTCTGAG TAGCCTCCTCAAATCCCCCCCAGTGTGTGCAACGTCCCCAAATCGCCCCA CTGTGTGCATTCTCCTCAAATGCCCCTAGCTTTGTGAAACCTCCCCAAAT CCCCCCCACTCTGTGTGCAACCTCCCCAGATCTCCTTTCTGTGCAACCTC CATAAATCCAACCAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG01192.hp2 others(4): Show HG00597.hp2 HG01081.hp1 HG01192.hp2 HG01978.hp2 NA19240.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0014 a0002 a0004 a0014	a0002c0002 a0004c0007 a0004c0032 others(1): Show a0002c0002 a0004c0007 a0004c0032 a0014c0030	a0002c0002t0014 a0004c0007t0004 a0004c0007t0008 others(2): Show a0002c0002t0014 a0004c0007t0004 a0004c0007t0008 a0004c0032t0008 a0014c0030t0004	a0002c0002t0014g0008 a0004c0007t0004g0109 a0004c0007t0004g0116 others(4): Show a0002c0002t0014g0008 a0004c0007t0004g0109 a0004c0007t0004g0116 a0004c0007t0008g0049 a0004c0007t0008g0102 a0004c0032t0008g0108 a0014c0030t0004g0115	7	130	0.0539	-315	c.261 others(19): Show c.2619-6970_2619-6656del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIML1_chr4_188134441_188152743	188152428	GGGGTTGA others(308): Show GGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGG GTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGAGGGGT TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAAGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGAGGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01175.hp1 HG02683.hp2 others(4): Show HG00558.hp2 HG01175.hp1 HG02683.hp2 NA18945.hp2 NA18995.hp1 NA19066.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0065 others(3): Show a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0073	7	228	0.0307	-315	c.50 others(11): Show c.5057_*5371del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4686		chr4	TogoVar
TSPAN10_chr17_81632196_81653749	81643325	GGGACGGC others(308): Show GGGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTTAGGAGATCGAGACCATCCCGGCTAA AACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAATTACCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(314): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.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 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0008 a0009 a0014	a0001c0001 a0001c0009 a0001c0020 others(9): Show a0001c0001 a0001c0009 a0001c0020 a0001c0021 a0002c0002 a0002c0018 a0002c0022 a0005c0004 a0006c0006 a0008c0008 a0009c0010 a0014c0019	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(14): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0009t0001 a0001c0020t0001 a0001c0021t0001 a0002c0002t0002 a0002c0018t0002 a0002c0022t0002 a0005c0004t0001 a0006c0006t0002 a0006c0006t0009 a0008c0008t0001 a0009c0010t0001 a0014c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(125): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0006g0001 a0001c0001t0006g0098 a0001c0001t0010g0068 a0001c0001t0011g0056 a0001c0001t0012g0001 a0001c0009t0001g0032 a0001c0020t0001g0008 a0001c0021t0001g0097 a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0015 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0083 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0018t0002g0003 a0002c0022t0002g0125 a0005c0004t0001g0001 a0005c0004t0001g0010 a0005c0004t0001g0025 a0005c0004t0001g0043 a0005c0004t0001g0054 a0005c0004t0001g0096 a0005c0004t0001g0099 a0005c0004t0001g0127 a0006c0006t0002g0014 a0006c0006t0002g0108 a0006c0006t0002g0123 a0006c0006t0002g0126 a0006c0006t0009g0014 a0008c0008t0001g0090 a0008c0008t0001g0091 a0008c0008t0001g0105 a0009c0010t0001g0001 a0014c0019t0001g0001	317	410	0.7732	-315	c.36+ others(14): Show c.36+882_36+1196del	TSPAN10	ENSG00000182612.11	transcript	ENST00000611590.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
TUBB4A_chr19_6489319_6507309	6506874	TGATTCTC others(308): Show TGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTGCACC ACCACCCTCAGCAAATTTTTGTATTATTGGTAGGGACAGGGTTTCACCAT GTTGGCCAGGCTGATCGCAAGCTCCTGACCTCAGGTGATCCACTCGCCTC GGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCC TATGCTTCTTTTTTCTTTTTTATTTTTTTGAGACGGAGTTTCGCTCTTGT TGCCCAGGCTGGAGTGTAATGGTGCGATCTCCGGCTCACCGCAACCTCTG CCTCCCAGGTTCAAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03704.hp2 HG03654.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0170 a0001c0001t0004g0027 a0001c0001t0004g0170	2	428	0.0047	-315	c.-49 others(11): Show c.-4977_-4663del	TUBB4A	ENSG00000104833.12	transcript	ENST00000264071.7	protein_coding		4566		chr19	TogoVar
TXNRD1_chr12_104210779_104355307	104246048	GCTTGCAG others(308): Show GCTTGCAGTGAGCTGAGATCGCGCCGCTGCACTCCAGCCTGGAGCCTGGG CGATACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACTTTTCCCAG CTGGGCACAGTGGCTCACACCTGTAATCCCAGCGCTTTGGGAGGCCGAGG CGGGTGGATCATGAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATG AACCTGGGAGGCGGAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19030.hp2 NA20129.hp2 HG03225.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0085 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0001t0001g0085 a0001c0002t0001g0059 a0001c0002t0001g0060	3	302	0.0099	-315	c.92- others(15): Show c.92-5466_92-5152del	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
UBE2E2_chr3_23198327_23596794	23579348	ACACTCCA others(308): Show ACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAA AAAACCTAAAAGCCTGGGTGTGGTGACTCATATCTGTAATCCCAGTGCTT TGGGAGGCTAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCC TGGGCAACATAGCAAGACCCTTTCTCAACAACAACAACAACAAAAATTAA AAGTTAGCCAGGCATGACGGTTTGTGTCTGTAGTCCTAACTACTTGGGAG ACTGATACAGGAGGATCACTTGAGCCCAGGATCGCGAAGTTACAGTGAAC TACGATCGTACCACTG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0202 a0001c0001t0031g0202	1	336	0.0030	-315	c.509 others(19): Show c.509-10357_509-10043del	UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
WDR81_chr17_1719704_1743585	1741012	GGGTGGGA others(308): Show GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GGGCCTGATGCAGGGAGTGAGGAGCCGGACACTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATG CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGCGCAGGACAGTGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	431	0.0023	-315	c.33 others(11): Show c.3328_*3642del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		2428		chr17	TogoVar
ZC3H3_chr8_143432659_143546447	143492767	CCTCCTCA others(308): Show CCTCCTCAGGGTCCCGTGTCCTGGCCCAGGGGCTCCCTCCTCAGGGTCCC GTGTCCTGGCCCAGGGGCTCCCTCCTCAGGGTCCCGTGTCCTGGCCCAGG GGCTCCCTCCTCAGGCTCCCGTGTCCTGGCCCAGGGGCTCCCTCCTCAGG CTCCCGTGTCCTGGCCCAGGGGCTCCCTCCTCAGGCTCCCGTGTCCTGGC CCAGGGGCTCCCTCCTCAGGCTCCCGTGTCCTGGCCCAGGGGCTCCCTCC TCAGGCTCCCGTGTCCTGGCCCAGGGGCTCCCTCCTCAGGGTCCCGTGTC CTGGCCCAGGGGCTCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02615.hp2 others(2): Show HG02258.hp1 HG02572.hp1 HG02615.hp2 HG03225.hp2 HG03540.hp1	a0001 a0020 a0021 a0001 a0020 a0021	a0001c0039 a0020c0020 a0021c0019 a0001c0039 a0020c0020 a0021c0019	a0001c0039t0001 a0020c0020t0001 a0021c0019t0001 a0001c0039t0001 a0020c0020t0001 a0021c0019t0001	a0001c0039t0001g0061 a0020c0020t0001g0166 a0020c0020t0001g0167 others(2): Show a0001c0039t0001g0061 a0020c0020t0001g0166 a0020c0020t0001g0167 a0021c0019t0001g0165 a0021c0019t0001g0168	5	352	0.0142	-315	c.171 others(21): Show c.1715+14664_1715+14978del	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZFAND2A_chr7_1147907_1165196	1156112	CGCCCAGC others(308): Show CGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACTG CCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCG AAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGA GCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAG GCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTG AAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGAC CGCCCAGCAGCTGAAG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0184 a0001c0001t0015g0184	1	432	0.0023	-315	c.151 others(15): Show c.151-843_151-529del	ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4			chr7	TogoVar
ZNF233_chr19_44254886_44280317	44260444	GTGCAGCG others(308): Show GTGCAGCGCTACTCGCCCTTCTCTGATCTCTGCACCTCGCGAGGCTGTTC CTGGATTCCTAACGTGGGGGGACGGGGGTGTCAATTTTCTCTCCATCTTT TTTATTTTTCCTTCCCTTTTAAGGCATGAGTGTGTCTCACCTCCATGTGG TGCCTGGGGATGTCCACTGTCATTCATCCTGGACCAGAAACAGAGTTTAG ATATCTTCCAACCTCCTTTCCTTCCTCAGCCTTGACTAACCGGAGGGCTG CAGAGAGGAGGGTGTTGACCCCCTGGCTCTTGGTAACATTGTCCCAACGT GAGAGGACTTAATATA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0001 a0000c0003t0001	a0000c0003t0001g0225 a0000c0003t0001g0225	1	408	0.0025	-315	c.-48 others(15): Show c.-48+510_-48+824del	ZNF233	ENSG00000159915.13	transcript	ENST00000683810.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF425_chr7_149097784_149131324	149121077	TCCTTTTT others(308): Show TCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02055.hp1 HG02109.hp1 others(13): Show HG01952.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02717.hp2 HG02809.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp1 HG03225.hp2 HG03516.hp1 NA19030.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0010 a0002c0004 others(1): Show a0001c0002 a0001c0010 a0002c0004 a0008c0014	a0001c0002t0003 a0001c0010t0007 a0002c0004t0003 others(2): Show a0001c0002t0003 a0001c0010t0007 a0002c0004t0003 a0002c0004t0005 a0008c0014t0003	a0001c0002t0003g0035 a0001c0002t0003g0037 a0001c0010t0007g0038 others(12): Show a0001c0002t0003g0035 a0001c0002t0003g0037 a0001c0010t0007g0038 a0001c0010t0007g0039 a0002c0004t0003g0009 a0002c0004t0003g0032 a0002c0004t0003g0033 a0002c0004t0003g0034 a0002c0004t0003g0036 a0002c0004t0005g0027 a0002c0004t0005g0028 a0002c0004t0005g0029 a0002c0004t0005g0030 a0002c0004t0005g0040 a0008c0014t0003g0031	16	320	0.0500	-315	c.19- others(15): Show c.19-3044_19-2730del	ZNF425	ENSG00000204947.9	transcript	ENST00000378061.7	protein_coding	1/3			chr7	TogoVar
ZNF700_chr19_11920107_11955763	11928435	GAGAAAGT others(308): Show GAGAAAGTAGTCTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03225.hp2 HG03516.hp2 HG03195.hp1 HG03225.hp2 HG03516.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0005 a0008c0010t0005 a0001c0001t0005 a0008c0010t0005	a0001c0001t0005g0026 a0008c0010t0005g0026 a0008c0010t0005g0052 a0001c0001t0005g0026 a0008c0010t0005g0026 a0008c0010t0005g0052	3	350	0.0086	-315	c.63+ others(15): Show c.63+3178_63+3492del	ZNF700	ENSG00000196757.8	transcript	ENST00000254321.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADARB2_chr10_1172313_1742525	1592511	TCGCCCAA others(307): Show TCGCCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGT CACCCAGCTCCCTTCGCCAAAGCCACCCTCCATAGGTCTCCTCTCTGGCA TGGTCCCCTCTGTCACCCAGCTACCCTCGCCCAAGCCACCCTCCATAGGT CTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCCTCGCCCAAGCC ACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGATTC ACTCACCCAAGCCACCCTCCATAGGTCTCTTCTCTGGCATGGTCCCCTCT GTCACCCAGCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02622.hp2 others(2): Show HG02258.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG03540.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0013 a0001c0001 a0001c0003 a0008c0013	a0001c0001t0001 a0001c0001t0051 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0051 a0001c0003t0001 a0001c0003t0039 a0008c0013t0020	a0001c0001t0001g0045 a0001c0001t0051g0051 a0001c0003t0001g0052 others(2): Show a0001c0001t0001g0045 a0001c0001t0051g0051 a0001c0003t0001g0052 a0001c0003t0039g0044 a0008c0013t0020g0037	5	106	0.0472	-314	c.100 others(21): Show c.100+144226_100+144539del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ARHGAP8_chr22_44747575_44867784	44784202	GAGACCAG others(307): Show GAGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAAGACAA AAATTAGCTGAGCGTGGTGGTGCATGCCTGTAATTCCAGCTACTCAGGAG GCTGAGGCAGGAGAATTGCTTGAATCCAGGTGGTGGAGGTTGCAGTGAGC AGAGATCATGCCACTGCACTCCAGCCTGGGCGAGGGAGTGAGACTCGGTC TCAAACAAAACAAAACAACAACAAACAGTATAAAAATTCCTTACATAGCA TTTACATTGTATTTGGTATTATAAGTAATCTAGAGGTGATTTGAACAATA CGGGAGAATGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0005 a0002c0011t0005	a0002c0011t0005g0284 a0002c0011t0005g0284	1	390	0.0026	-314	c.-71 others(17): Show c.-71-2252_-71-1939del	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARRB1_chr11_75255122_75356661	75300667	TAAAAATA others(307): Show TAAAAATACAAAAATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAACACAAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCGCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03130.hp2 HG03471.hp1 others(1): Show HG01891.hp1 HG03130.hp2 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0086 a0001c0001t0004g0198 a0001c0001t0004g0199 others(1): Show a0001c0001t0001g0086 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200	4	320	0.0125	-314	c.21- others(17): Show c.21-10942_21-10629del	ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding	1/15			chr11	TogoVar
ASTN2_chr9_116418112_117420057	116439185	TTCAAATA others(307): Show TTCAAATACATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02698.hp2 others(6): Show HG02109.hp1 HG02451.hp1 HG02698.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp2 NA18906.hp2 NA19065.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0002c0004	a0001c0001t0001 a0001c0001t0008 a0001c0002t0008 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0008 a0001c0003t0001 a0001c0003t0012 a0001c0009t0008 a0001c0012t0001 a0002c0004t0001	a0001c0001t0001g0028 a0001c0001t0008g0008 a0001c0001t0008g0065 others(6): Show a0001c0001t0001g0028 a0001c0001t0008g0008 a0001c0001t0008g0065 a0001c0002t0008g0024 a0001c0003t0001g0038 a0001c0003t0012g0001 a0001c0009t0008g0088 a0001c0012t0001g0098 a0002c0004t0001g0004	9	102	0.0882	-314	c.378 others(19): Show c.3782+1110_3782+1423del	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	22/22			chr9	TogoVar
BRAP_chr12_111637146_111690956	111648385	GGGTGGAT others(307): Show GGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATTAACTGGGTGTGGTGGTGTGC TCCTGTAGTCTTAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAT CCGGGAGGCGGAGGTTGCAGTGAACTGAGATCGCTCCACTGTACTCCAGC CTATTGCGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCTGTCTAA AAATAAAGATGGGCTGGGCACGGTGGCTCACGCCTGTAATCCAAGCACTT TGGGAGGCCAAAGCA	G G	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	364	0.0028	-314	c.141 others(19): Show c.1415+1240_1415+1553del	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	11/11			chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1190926	TTTCGCTG others(307): Show TTTCGCTGACCCAGCATGCTGGCCTGGTTGTGTGGCCTCAGGCACACTCG GGGTTTCGGTGACCCAGCAGGCTGCCCTGGCTGTGTGGCCTCAGGCACAC TCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACA CTCGGGGTCTCTCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGC ACACTCGGGGTCTCTCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCA GGCACACTCGGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCC TCAGGCACACTCGGG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0029 a0029	a0029c0065 a0029c0065	a0029c0065t0007 a0029c0065t0007	a0029c0065t0007g0202 a0029c0065t0007g0202	1	338	0.0030	-314	c.300 others(17): Show c.300-4045_300-3732del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CNN2_chr19_1021608_1044065	1034602	CGGTGTCT others(307): Show CGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTA GACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGT GGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGG TGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGC GTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCATGGGTGGGACACGGT GTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0167 a0001c0009t0010g0168 a0001c0009t0010g0167 a0001c0009t0010g0168	2	390	0.0051	-314	c.391 others(17): Show c.391-1527_391-1214del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
DCK_chr4_70988649_71035914	71032942	CTCCCCTC others(307): Show CTCCCCTCCTCACACCCGGTCTGGCTTACAGTTTCCTTCCGCGACTAGCC CTTCCCCACCTGCCCAACAATTTCCTCTTGAAGAGGTGGCTGGAGTTAAA GGCATAGTCAAAGTTAATGCGACTCATCCCAAATCCTTCTTCTTTCTCTC CTGTCTGTTCCTTCAGTCTCCACACCAAGCTCTGAGTCCTTTGAATCCTT TTCTGCGGACTCATCTGACCTCTCCCCTTCTACCCAGGCTGCTCCTTGCC AGGCTGTGCCAGGTCCCAATTCTTCCTCAGCCTCTGCTCCCCCACCCTAT AATCTTTCTATCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0173 a0001c0001t0013g0173	1	282	0.0036	-314	c.35 others(11): Show c.3565_*3878del	DCK	ENSG00000156136.10	transcript	ENST00000286648.10	protein_coding		2029		chr4	TogoVar
DGKB_chr7_14140049_14907751	14212094	ACTCTCAT others(307): Show ACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGT GTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT ATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATATTTACT CTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	148	0.0068	-314	c.212 others(21): Show c.2123-34257_2123-33944del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1015403	GTGTGTGA others(307): Show GTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAG ACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTG TGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGAC GCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTC CACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGAC AGACGACGCCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0028 a0002c0001t0005g0028	1	40	0.0250	-314	c.73+ others(19): Show c.73+107444_73+107757del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH14_chr1_224924675_225404286	225156699	TCTTAAAA others(307): Show TCTTAAAATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACC TCGTGATCCGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG01070.hp1 others(65): Show HG00558.hp1 HG00621.hp1 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp2 HG03491.hp2 HG03704.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18966.hp1 NA18975.hp2 NA18984.hp1 NA18984.hp2 NA18991.hp2 NA19003.hp1 NA19004.hp2 NA19011.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0010 a0011 others(25): Show a0001 a0010 a0011 a0014 a0016 a0017 a0024 a0028 a0029 a0042 a0043 a0044 a0045 a0056 a0057 a0060 a0061 a0063 a0064 a0067 a0076 a0077 a0078 a0079 a0080 a0081 a0102 a0111	a0001c0001 a0001c0008 a0010c0010 others(27): Show a0001c0001 a0001c0008 a0010c0010 a0011c0011 a0014c0013 a0016c0018 a0017c0015 a0024c0054 a0024c0056 a0028c0032 a0029c0033 a0042c0046 a0043c0075 a0044c0077 a0045c0076 a0056c0059 a0057c0060 a0060c0055 a0061c0052 a0063c0051 a0064c0049 a0067c0061 a0076c0113 a0077c0115 a0078c0089 a0079c0091 a0080c0090 a0081c0114 a0102c0092 a0111c0119	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0001c0008t0002 a0010c0010t0001 a0011c0011t0001 a0014c0013t0001 a0016c0018t0001 a0017c0015t0001 a0024c0054t0001 a0024c0056t0001 a0028c0032t0001 a0029c0033t0001 a0042c0046t0001 a0043c0075t0001 a0044c0077t0001 a0045c0076t0001 a0056c0059t0001 a0057c0060t0001 a0060c0055t0001 a0061c0052t0001 a0063c0051t0001 a0064c0049t0001 a0067c0061t0001 a0076c0113t0001 a0077c0115t0001 a0078c0089t0001 a0079c0091t0001 a0080c0090t0001 a0081c0114t0001 a0102c0092t0001 a0111c0119t0001	a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0001t0001g0132 others(65): Show a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0234 a0001c0001t0002g0163 a0001c0008t0001g0151 a0001c0008t0001g0152 a0001c0008t0001g0155 a0001c0008t0001g0202 a0001c0008t0002g0154 a0010c0010t0001g0030 a0010c0010t0001g0031 a0010c0010t0001g0032 a0010c0010t0001g0033 a0011c0011t0001g0179 a0011c0011t0001g0180 a0011c0011t0001g0181 a0011c0011t0001g0239 a0014c0013t0001g0226 a0014c0013t0001g0227 a0014c0013t0001g0228 a0016c0018t0001g0173 a0016c0018t0001g0174 a0016c0018t0001g0183 a0017c0015t0001g0085 a0017c0015t0001g0086 a0017c0015t0001g0087 a0024c0054t0001g0222 a0024c0056t0001g0224 a0028c0032t0001g0126 a0028c0032t0001g0209 a0029c0033t0001g0161 a0029c0033t0001g0162 a0042c0046t0001g0229 a0043c0075t0001g0018 a0044c0077t0001g0022 a0045c0076t0001g0001 a0056c0059t0001g0223 a0057c0060t0001g0225 a0060c0055t0001g0095 a0061c0052t0001g0230 a0063c0051t0001g0235 a0064c0049t0001g0096 a0067c0061t0001g0024 a0076c0113t0001g0176 a0077c0115t0001g0166 a0078c0089t0001g0027 a0079c0091t0001g0029 a0080c0090t0001g0026 a0081c0114t0001g0135 a0102c0092t0001g0165 a0111c0119t0001g0240	68	240	0.2833	-314	c.527 others(19): Show c.5274-2602_5274-2289del	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	34/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
EYS_chr6_63714980_65712226	64475259	TGAAAAGA others(307): Show TGAAAAGAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02809.hp1 others(7): Show HG02451.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0006 a0007 a0008 a0010 a0016 a0018	a0001c0009 a0002c0008 a0002c0021 others(7): Show a0001c0009 a0002c0008 a0002c0021 a0004c0017 a0006c0022 a0007c0018 a0008c0007 a0010c0003 a0016c0014 a0018c0016	a0001c0009t0001 a0002c0008t0002 a0002c0021t0001 others(7): Show a0001c0009t0001 a0002c0008t0002 a0002c0021t0001 a0004c0017t0001 a0006c0022t0001 a0007c0018t0001 a0008c0007t0001 a0010c0003t0001 a0016c0014t0001 a0018c0016t0001	a0001c0009t0001g0012 a0002c0008t0002g0020 a0002c0021t0001g0008 others(7): Show a0001c0009t0001g0012 a0002c0008t0002g0020 a0002c0021t0001g0008 a0004c0017t0001g0002 a0006c0022t0001g0011 a0007c0018t0001g0007 a0008c0007t0001g0009 a0010c0003t0001g0016 a0016c0014t0001g0005 a0018c0016t0001g0003	10	24	0.4167	-314	c.564 others(21): Show c.5645-36221_5645-35908del	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	26/42			chr6	TogoVar
GABBR2_chr9_98283109_98713935	98447048	ACCTAAAA others(307): Show ACCTAAAAAAGACTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGATGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01070.hp1 HG01243.hp1 others(18): Show HG00621.hp1 HG01070.hp1 HG01243.hp1 HG01257.hp2 HG02109.hp2 HG02135.hp2 HG02280.hp1 HG02280.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp1 HG03041.hp2 HG03492.hp1 HG03710.hp2 HG03831.hp1 HG04199.hp2 NA18906.hp1 NA18964.hp2 NA18982.hp2 NA18984.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0001c0015 a0002c0004 a0002c0006 a0002c0008 a0002c0010 a0002c0014 a0002c0027	a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 others(16): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0035 a0001c0002t0001 a0001c0002t0005 a0001c0002t0009 a0001c0002t0040 a0001c0003t0005 a0001c0005t0014 a0001c0013t0024 a0001c0015t0014 a0002c0004t0006 a0002c0006t0007 a0002c0008t0004 a0002c0010t0007 a0002c0014t0006 a0002c0027t0002	a0001c0001t0003g0065 a0001c0001t0009g0115 a0001c0001t0012g0117 others(18): Show a0001c0001t0003g0065 a0001c0001t0009g0115 a0001c0001t0012g0117 a0001c0001t0019g0126 a0001c0001t0035g0047 a0001c0002t0001g0163 a0001c0002t0005g0155 a0001c0002t0009g0095 a0001c0002t0040g0147 a0001c0003t0005g0164 a0001c0005t0014g0034 a0001c0005t0014g0040 a0001c0013t0024g0010 a0001c0015t0014g0039 a0002c0004t0006g0112 a0002c0006t0007g0024 a0002c0006t0007g0033 a0002c0008t0004g0086 a0002c0010t0007g0032 a0002c0014t0006g0068 a0002c0027t0002g0062	21	164	0.1281	-314	c.123 others(19): Show c.1236+6619_1236+6932del	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABRB3_chr15_26538552_26778066	26716807	ACCCAACC others(307): Show ACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCT CTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAAC CACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAATGACAGCCCAGCTCTGGGGACATCCACCCAATGACAGAC AGCCCAGCTCTTGGGACCTCCACCCAGCGACAGTCCAGCTCTGGGGACCT CCCTCCGATGACAGCCCAGCTCTGCGGACATCCACCCAATGACAGCCCAG TTCTGGGGACATCCG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03017.hp2 HG01993.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0126 a0001c0001t0001g0137	2	204	0.0098	-314	c.240 others(19): Show c.240+55281_240+55594del	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GLTP_chr12_109845945_109885541	109869546	TCCAGGTT others(307): Show TCCAGGTTCAAGCGATTCCCCAGCCTCAGCCTCCCGAGTATCTGAGACTA TAGGCAAGCACCACCACACCCAGCTAATTTTTTTTTTTTTGTTTTTTTGT ATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCT CCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGTGTGAGCCACCACACTCAACTGGGAAAACTATTATCATTATTTTGAGA CTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAACCTCCACCTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG00738.hp1 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0173 a0001c0001t0017g0174 a0001c0001t0017g0173 a0001c0001t0017g0174	2	322	0.0062	-314	c.103 others(19): Show c.103+10412_103+10725del	GLTP	ENSG00000139433.11	transcript	ENST00000318348.9	protein_coding	1/4			chr12	TogoVar
GNA12_chr7_2723105_2849308	2789118	ACCCCTTC others(307): Show ACCCCTTCAGGCATCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02818.hp2 HG02896.hp2 others(2): Show HG00741.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 NA20752.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0018 a0001c0004t0014 a0001c0004t0018	a0001c0004t0014g0285 a0001c0004t0014g0286 a0001c0004t0014g0287 others(2): Show a0001c0004t0014g0285 a0001c0004t0014g0286 a0001c0004t0014g0287 a0001c0004t0018g0265 a0001c0004t0018g0266	5	322	0.0155	-314	c.525 others(17): Show c.525+5496_525+5809del	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GUCA2A_chr1_42157690_42169745	42167128	GTGTGTGC others(307): Show GTGTGTGCTGAGGTGTGTGTGTGTGCTGAGCTGTGTGTGTGCTGATGTGT GTGTATACACTGAGGTGTGTGTGAGTGCTGACATGTGTGTATACACTGAG GAGCGTGTGTGTGCTGAGGTATGTGTGCGCTGATGTGTGTGTATACACTG AGGTGCGTGTGTGTGCTGAGGTGTGTGTGTGCTGACATGTGTGTATACAC TGAGGTGCGTGTATGTGCTGAGGTGTGTGAGTGCTGACGTGTGTGTATAC ACTGAGGTGTGTGTGCGCTGACGTGTGTGTATACACTGAGGTGTGTGTGC TGACGTGTGTATACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(127): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01884.hp1 HG01928.hp1 HG01981.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19065.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0008 a0002c0002 others(4): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0005c0005 a0006c0009 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0002c0002t0001 a0003c0003t0001 a0005c0005t0001 a0006c0009t0001 a0007c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0008t0001g0028 a0002c0002t0001g0001 a0003c0003t0001g0006 a0005c0005t0001g0016 a0006c0009t0001g0029 a0007c0006t0001g0020	130	436	0.2982	-314	c.-27 others(11): Show c.-2730_-2417del	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		2384		chr1	TogoVar
HDHD5_chr22_17132520_17164277	17136069	GAAAGAAA others(307): Show GAAAGAAATCAGTTAGGCCGGGAGCAGTGGCTCACGCCTGTAATCCCAGC GCTTTGAGGGGCCAAGGAGGGTGGATCACTTGAGGTCAGGAGTTTGAGAC CAGCCTGGCCAACATGGCGAAACCCCGTCTCTACCAAAAATACAAAAATT AGCTAGTCAGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGG CTGAGGCACAAAAATTGCTTGAACCTGGAGGTGGAGGCTGCAGTGAGCCG AGATCATGCCACTGCACTCCAGCTTGGTAAACAAGAGCAAAACTCCCGTC TCAAAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(187): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp1 HG03453.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0014 a0002c0003 a0002c0008 a0003c0006 a0003c0011 a0003c0016 a0003c0021 a0004c0005 a0007c0022 a0008c0017 a0009c0019 a0010c0018 a0011c0020	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0001c0014t0001 a0002c0003t0001 a0002c0008t0001 a0003c0006t0001 a0003c0011t0001 a0003c0016t0001 a0003c0021t0001 a0004c0005t0001 a0007c0022t0001 a0008c0017t0001 a0009c0019t0001 a0010c0018t0001 a0011c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(119): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0005g0155 a0001c0002t0001g0030 a0001c0002t0001g0061 a0001c0002t0001g0068 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0102 a0001c0004t0001g0243 a0001c0007t0001g0034 a0001c0007t0001g0091 a0001c0007t0001g0114 a0001c0007t0001g0128 a0001c0014t0001g0057 a0002c0003t0001g0049 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0008t0001g0053 a0002c0008t0001g0251 a0002c0008t0001g0252 a0003c0006t0001g0103 a0003c0006t0001g0104 a0003c0006t0001g0105 a0003c0006t0001g0106 a0003c0006t0001g0107 a0003c0011t0001g0022 a0003c0016t0001g0060 a0003c0021t0001g0234 a0004c0005t0001g0035 a0004c0005t0001g0112 a0004c0005t0001g0120 a0004c0005t0001g0129 a0004c0005t0001g0146 a0007c0022t0001g0270 a0008c0017t0001g0095 a0009c0019t0001g0156 a0010c0018t0001g0088 a0011c0020t0001g0147	190	422	0.4502	-314	c.16 others(11): Show c.1638_*1951del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding		1450		chr22	TogoVar
HDHD5_chr22_17132520_17164277	17136182	ATGGCGAA others(307): Show ATGGCGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTAGTCAGGCG TGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAAA ATTGCTTGAACCTGGAGGTGGAGGCTGCAGTGAGCCGAGATCATGCCACT GCACTCCAGCTTGGTAAACAAGAGCAAAACTCCCGTCTCAAAAAAAAAAA AAAAAGAAATCAGTTAGGCCGGGAGCAGTGGCTCACGCCTGTAATCCCAG CGCTTTGAGGGGCCAAGGAGGGTGGATCACTTGAGGTCAGGAGTTTGAGA CCAGCCTGGCCAACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01175.hp2 HG02056.hp1 others(17): Show HG00621.hp2 HG01175.hp2 HG02056.hp1 HG02145.hp1 HG02258.hp2 HG02602.hp2 HG02683.hp1 HG02886.hp2 HG03139.hp2 NA18954.hp2 NA18967.hp2 NA18984.hp2 NA19002.hp2 NA19005.hp2 NA19011.hp2 NA19062.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0009t0001 a0002c0003t0001	a0001c0001t0001g0084 a0001c0001t0001g0121 a0001c0001t0001g0126 others(16): Show a0001c0001t0001g0084 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0002t0001g0079 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0215 a0001c0004t0001g0217 a0001c0004t0001g0218 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0225 a0001c0004t0001g0226 a0001c0009t0001g0027 a0001c0009t0001g0055 a0002c0003t0001g0259 a0002c0003t0001g0261 a0002c0003t0001g0265	20	422	0.0474	-314	c.15 others(11): Show c.1525_*1838del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding		1337		chr22	TogoVar
HDHD5_chr22_17132520_17164277	17136225	TCAGGCGT others(307): Show TCAGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGG CACAAAAATTGCTTGAACCTGGAGGTGGAGGCTGCAGTGAGCCGAGATCA TGCCACTGCACTCCAGCTTGGTAAACAAGAGCAAAACTCCCGTCTCAAAA AAAAAAAAAAAAGAAATCAGTTAGGCCGGGAGCAGTGGCTCACGCCTGTA ATCCCAGCGCTTTGAGGGGCCAAGGAGGGTGGATCACTTGAGGTCAGGAG TTTGAGACCAGCCTGGCCAACGTGGCGAAACCCCGTCTCTACCAAAAATA CAAAAATTAGCTAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(71): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01978.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18947.hp2 NA18966.hp2 NA18971.hp1 NA18978.hp1 NA18978.hp2 NA18998.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19086.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0002c0003 a0006c0023	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0012t0001 a0002c0003t0001 a0002c0003t0003 a0006c0023t0001	a0001c0001t0001g0086 a0001c0001t0001g0122 a0001c0001t0001g0173 others(42): Show a0001c0001t0001g0086 a0001c0001t0001g0122 a0001c0001t0001g0173 a0001c0002t0001g0007 a0001c0002t0001g0070 a0001c0002t0001g0077 a0001c0002t0001g0168 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0004t0001g0046 a0001c0004t0001g0047 a0001c0012t0001g0216 a0001c0012t0001g0220 a0002c0003t0001g0003 a0002c0003t0001g0005 a0002c0003t0001g0013 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0260 a0002c0003t0001g0264 a0002c0003t0001g0266 a0002c0003t0001g0268 a0002c0003t0001g0269 a0002c0003t0001g0271 a0002c0003t0001g0272 a0002c0003t0001g0273 a0002c0003t0001g0274 a0002c0003t0001g0275 a0002c0003t0001g0276 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0281 a0002c0003t0003g0052 a0006c0023t0001g0267	74	422	0.1754	-314	c.14 others(11): Show c.1482_*1795del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding		1294		chr22	TogoVar
HRC_chr19_49146198_49160396	49156585	CCCTCTCT others(307): Show CCCTCTCTCTGTGGATCTCTGTCCCCCTCTCTCTGGGTCTCTGTTCCCCT CTCTCTGTGGGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTTCCCCTCT CTCTGGGTCTCTGTCCCCCTCTCTCAGGGTCTCTGTCCCCCTCTGTCTCA GAGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCTCTCCCTGGGTCTC TGTACCCCTCTCCGTGGGTCTCTGTCCCCTCTCCCTGGGTCTCTGTCCCC CCATCCCTGGGTCTCTGTCCCCCCCTCTCTGGGTCTCTGTCCCCCTCTCT CTGGGTCTCTGTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG03041.hp1 HG03486.hp1 others(1): Show HG01516.hp1 HG03041.hp1 HG03486.hp1 HG04199.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0005c0005t0001g0019 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0005c0005t0001g0019 a0005c0005t0001g0052	4	406	0.0099	-314	c.-16 others(11): Show c.-1662_-1349del	HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding		1190		chr19	TogoVar
KANSL1_chr17_46024916_46198429	46146541	CAAGAAGT others(307): Show CAAGAAGTTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAAGCCGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC AGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show HG00140.hp1 HG00280.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG03239.hp1 HG03704.hp1 HG04199.hp1 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0024 a0003c0004t0025 a0003c0004t0005 a0003c0004t0024 a0003c0004t0025	a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(19): Show a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0005g0305 a0003c0004t0005g0306 a0003c0004t0005g0307 a0003c0004t0005g0308 a0003c0004t0005g0309 a0003c0004t0005g0310 a0003c0004t0005g0311 a0003c0004t0005g0312 a0003c0004t0005g0313 a0003c0004t0005g0314 a0003c0004t0005g0315 a0003c0004t0005g0316 a0003c0004t0005g0317 a0003c0004t0005g0318 a0003c0004t0005g0319 a0003c0004t0005g0320 a0003c0004t0024g0300 a0003c0004t0025g0321	22	321	0.0685	-314	c.128 others(21): Show c.1289+24000_1289+24313del	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KDM4C_chr9_6752973_7180648	6888773	TCTTCTGT others(307): Show TCTTCTGTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCCGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(151): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19054.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0022 a0023 a0026 a0029 a0030 a0031 a0032 a0034 a0035 a0036	a0001c0001 a0001c0002 a0001c0027 others(46): Show a0001c0001 a0001c0002 a0001c0027 a0001c0060 a0001c0064 a0002c0003 a0002c0008 a0002c0023 a0003c0004 a0003c0007 a0003c0059 a0003c0063 a0004c0005 a0004c0006 a0005c0011 a0005c0012 a0005c0032 a0005c0037 a0006c0009 a0006c0047 a0006c0053 a0007c0017 a0007c0034 a0008c0062 a0010c0015 a0010c0058 a0011c0016 a0011c0036 a0012c0013 a0013c0024 a0013c0025 a0014c0014 a0015c0067 a0015c0068 a0016c0021 a0017c0026 a0018c0030 a0020c0066 a0021c0057 a0022c0031 a0023c0041 a0026c0033 a0029c0043 a0030c0044 a0031c0051 a0032c0048 a0034c0049 a0035c0052 a0036c0065	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0011 a0001c0002t0018 a0001c0027t0015 a0001c0060t0002 a0001c0064t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0014 a0002c0008t0001 a0002c0008t0002 a0002c0008t0008 a0002c0023t0002 a0003c0004t0001 a0003c0004t0003 a0003c0004t0017 a0003c0007t0001 a0003c0059t0001 a0003c0063t0001 a0004c0005t0001 a0004c0005t0002 a0004c0006t0001 a0004c0006t0002 a0005c0011t0001 a0005c0011t0002 a0005c0012t0001 a0005c0032t0002 a0005c0037t0001 a0006c0009t0001 a0006c0009t0003 a0006c0047t0001 a0006c0053t0001 a0007c0017t0001 a0007c0034t0001 a0008c0062t0001 a0010c0015t0001 a0010c0015t0002 a0010c0058t0002 a0011c0016t0001 a0011c0036t0001 a0012c0013t0007 a0013c0024t0001 a0013c0025t0009 a0014c0014t0001 a0015c0067t0002 a0015c0068t0002 a0016c0021t0001 a0017c0026t0002 a0018c0030t0001 a0020c0066t0001 a0021c0057t0001 a0022c0031t0013 a0023c0041t0002 a0026c0033t0001 a0029c0043t0002 a0030c0044t0001 a0031c0051t0002 a0032c0048t0002 a0034c0049t0002 a0035c0052t0002 a0036c0065t0005	a0001c0001t0001g0025 a0001c0001t0001g0151 a0001c0001t0001g0158 others(151): Show a0001c0001t0001g0025 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0002g0052 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0184 a0001c0001t0002g0238 a0001c0001t0002g0263 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0265 a0001c0001t0006g0256 a0001c0001t0006g0260 a0001c0002t0001g0032 a0001c0002t0001g0048 a0001c0002t0002g0012 a0001c0002t0002g0038 a0001c0002t0002g0064 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0131 a0001c0002t0002g0144 a0001c0002t0002g0146 a0001c0002t0002g0148 a0001c0002t0002g0197 a0001c0002t0002g0217 a0001c0002t0004g0203 a0001c0002t0004g0204 a0001c0002t0006g0252 a0001c0002t0011g0118 a0001c0002t0018g0110 a0001c0027t0015g0261 a0001c0060t0002g0210 a0001c0064t0001g0065 a0002c0003t0001g0057 a0002c0003t0001g0061 a0002c0003t0001g0072 a0002c0003t0001g0095 a0002c0003t0001g0139 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0234 a0002c0003t0001g0242 a0002c0003t0002g0035 a0002c0003t0002g0049 a0002c0003t0002g0068 a0002c0003t0002g0092 a0002c0003t0002g0098 a0002c0003t0002g0136 a0002c0003t0002g0167 a0002c0003t0002g0187 a0002c0003t0002g0212 a0002c0003t0002g0223 a0002c0003t0002g0228 a0002c0003t0002g0241 a0002c0003t0003g0251 a0002c0003t0014g0180 a0002c0008t0001g0090 a0002c0008t0001g0178 a0002c0008t0001g0194 a0002c0008t0001g0198 a0002c0008t0002g0069 a0002c0008t0008g0208 a0002c0023t0002g0007 a0003c0004t0001g0045 a0003c0004t0001g0105 a0003c0004t0001g0120 a0003c0004t0001g0159 a0003c0004t0001g0200 a0003c0004t0001g0247 a0003c0004t0003g0262 a0003c0004t0017g0109 a0003c0007t0001g0013 a0003c0007t0001g0085 a0003c0007t0001g0147 a0003c0007t0001g0236 a0003c0059t0001g0134 a0003c0063t0001g0027 a0004c0005t0001g0103 a0004c0005t0001g0165 a0004c0005t0001g0177 a0004c0005t0002g0019 a0004c0005t0002g0067 a0004c0005t0002g0076 a0004c0005t0002g0080 a0004c0005t0002g0229 a0004c0005t0002g0250 a0004c0006t0001g0102 a0004c0006t0001g0106 a0004c0006t0001g0233 a0004c0006t0002g0004 a0004c0006t0002g0043 a0004c0006t0002g0190 a0004c0006t0002g0240 a0005c0011t0001g0058 a0005c0011t0001g0201 a0005c0011t0002g0050 a0005c0011t0002g0113 a0005c0011t0002g0135 a0005c0012t0001g0039 a0005c0012t0001g0179 a0005c0012t0001g0224 a0005c0032t0002g0091 a0005c0037t0001g0051 a0006c0009t0001g0077 a0006c0009t0001g0152 a0006c0009t0001g0156 a0006c0009t0001g0157 a0006c0009t0001g0219 a0006c0009t0003g0254 a0006c0009t0003g0257 a0006c0047t0001g0163 a0006c0053t0001g0053 a0007c0017t0001g0029 a0007c0034t0001g0001 a0008c0062t0001g0149 a0010c0015t0001g0003 a0010c0015t0002g0129 a0010c0058t0002g0127 a0011c0016t0001g0199 a0011c0036t0001g0171 a0012c0013t0007g0088 a0013c0024t0001g0063 a0013c0024t0001g0123 a0013c0025t0009g0259 a0014c0014t0001g0128 a0014c0014t0001g0162 a0015c0067t0002g0126 a0015c0068t0002g0125 a0016c0021t0001g0020 a0017c0026t0002g0070 a0017c0026t0002g0099 a0018c0030t0001g0153 a0018c0030t0001g0154 a0020c0066t0001g0169 a0021c0057t0001g0213 a0022c0031t0013g0195 a0023c0041t0002g0108 a0026c0033t0001g0002 a0029c0043t0002g0181 a0030c0044t0001g0222 a0031c0051t0002g0081 a0032c0048t0002g0166 a0034c0049t0002g0005 a0035c0052t0002g0244 a0036c0065t0005g0246	154	266	0.5790	-314	c.783 others(16): Show c.783+725_783+1038del	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF27_chr9_83829099_83926432	83848020	GCTATATC others(307): Show GCTATATCTATATCTATATATATCTACATATATCTATATATCATATATAT GATATATGATATATCATATATATGATATATATGATATCTCATATCTGATA TATCTGATATCTCATATATGATATATCTGATATATCATATATGATATATC TGATATATCATATATGATATATATGATATATCAGATATGATATATATGAT ATATCAGATATGATATATATGATATATCAGATATGATATATATGATATAT CAGATATGATATATATGATATATCAGATATGATATATATGATATATCATA TATCTATATATCTAT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp1 HG02809.hp2 others(2): Show HG02257.hp2 HG02615.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 others(1): Show a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 a0001c0017t0006	a0001c0002t0006g0022 a0001c0002t0006g0023 a0001c0002t0010g0033 others(2): Show a0001c0002t0006g0022 a0001c0002t0006g0023 a0001c0002t0010g0033 a0001c0002t0011g0034 a0001c0017t0006g0021	5	346	0.0145	-314	c.355 others(19): Show c.3556+1765_3556+2078del	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KLHL1_chr13_69695597_70113452	69884926	TTTCTTTT others(307): Show TTTCTTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCGCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02451.hp1 others(14): Show HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0001c0001t0021 a0001c0002t0002 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0022 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0011	a0001c0001t0001g0079 a0001c0001t0002g0087 a0001c0001t0002g0088 others(14): Show a0001c0001t0001g0079 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0003g0142 a0001c0001t0008g0074 a0001c0001t0018g0130 a0001c0001t0021g0157 a0001c0002t0002g0112 a0001c0002t0008g0113 a0001c0002t0012g0175 a0001c0002t0013g0176 a0001c0002t0022g0173 a0001c0003t0001g0045 a0001c0003t0002g0093 a0001c0003t0006g0039 a0001c0003t0011g0135	17	182	0.0934	-314	c.101 others(19): Show c.1015-2745_1015-2432del	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	4/10			chr13	TogoVar

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