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
KIF26B_chr1_245149985_245714432	245682399	GCTGACTG others(176): Show GCTGACTGTATATGATCACAACCTAACTGAGCAGAACTCACCCTCCACTA CTCATGTAAGACCTGACTGTATATGATCACAACCTAACTGAGCAGAACTC ACCCTCCACTACTCATGTAAGACCTGACTGTATATGATCACAACCTAACT GAGCAGAACTCACCCTCCACTACTCATGTAAGAC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp2 HG01433.hp2 others(12): Show HG00673.hp1 HG00738.hp2 HG01433.hp2 HG01981.hp1 HG02145.hp2 HG02486.hp1 HG02647.hp1 HG02735.hp2 HG02976.hp2 HG03139.hp2 HG03209.hp2 HG03540.hp2 NA18906.hp2 NA19043.hp1 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0010 a0002c0003 others(3): Show a0001c0001 a0001c0010 a0002c0003 a0002c0008 a0003c0026 a0003c0027	a0001c0001t0038 a0001c0010t0015 a0001c0010t0026 others(8): Show a0001c0001t0038 a0001c0010t0015 a0001c0010t0026 a0001c0010t0062 a0002c0003t0004 a0002c0003t0006 a0002c0003t0022 a0002c0003t0083 a0002c0008t0004 a0003c0026t0003 a0003c0027t0033	a0001c0001t0038g0107 a0001c0010t0015g0068 a0001c0010t0026g0060 others(12): Show a0001c0001t0038g0107 a0001c0010t0015g0068 a0001c0010t0026g0060 a0001c0010t0062g0038 a0002c0003t0004g0092 a0002c0003t0004g0140 a0002c0003t0004g0142 a0002c0003t0006g0116 a0002c0003t0022g0006 a0002c0003t0022g0155 a0002c0003t0083g0085 a0002c0008t0004g0089 a0002c0008t0004g0105 a0003c0026t0003g0058 a0003c0027t0033g0122	15	160	0.0938	-183	c.225 others(19): Show c.2259-1663_2259-1481del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
LATS2_chr13_20968036_21066586	21007540	ATATAGTA others(176): Show ATATAGTATATATATATATATATATATATATATATATATATATATATAGT ATATATATATATAGTGTGTATATATATATATAGTGTATATATATATATAT ATATAGTGTGTGTATATATATATAGTGTGTATATATATATATAGTATATA TATATATATAGTATGTATATATATATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00735.hp2 others(70): Show HG00438.hp2 HG00621.hp1 HG00735.hp2 HG00738.hp2 HG01168.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01928.hp1 HG01934.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03195.hp1 HG03471.hp1 HG03654.hp1 HG03704.hp1 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18971.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19058.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp2 NA19081.hp2 NA19087.hp1 NA19091.hp2 NA20129.hp1	a0002 a0003 a0006 others(3): Show a0002 a0003 a0006 a0007 a0008 a0011	a0002c0002 a0002c0027 a0003c0003 others(4): Show a0002c0002 a0002c0027 a0003c0003 a0006c0011 a0007c0013 a0008c0026 a0011c0025	a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 others(14): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0023 a0002c0002t0024 a0002c0002t0040 a0002c0002t0042 a0002c0027t0039 a0003c0003t0007 a0003c0003t0044 a0006c0011t0001 a0007c0013t0007 a0008c0026t0011 a0011c0025t0003	a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 others(70): Show a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0098 a0002c0002t0003g0101 a0002c0002t0003g0102 a0002c0002t0003g0103 a0002c0002t0003g0104 a0002c0002t0003g0106 a0002c0002t0003g0107 a0002c0002t0003g0108 a0002c0002t0003g0109 a0002c0002t0003g0113 a0002c0002t0003g0115 a0002c0002t0003g0116 a0002c0002t0003g0117 a0002c0002t0003g0119 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0138 a0002c0002t0003g0140 a0002c0002t0003g0142 a0002c0002t0003g0144 a0002c0002t0003g0145 a0002c0002t0003g0146 a0002c0002t0003g0147 a0002c0002t0003g0148 a0002c0002t0003g0149 a0002c0002t0003g0150 a0002c0002t0003g0151 a0002c0002t0003g0153 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0157 a0002c0002t0003g0158 a0002c0002t0003g0160 a0002c0002t0006g0159 a0002c0002t0007g0141 a0002c0002t0010g0118 a0002c0002t0011g0283 a0002c0002t0011g0284 a0002c0002t0011g0285 a0002c0002t0012g0182 a0002c0002t0012g0198 a0002c0002t0012g0244 a0002c0002t0023g0087 a0002c0002t0024g0152 a0002c0002t0024g0156 a0002c0002t0040g0143 a0002c0002t0042g0127 a0002c0027t0039g0114 a0003c0003t0007g0105 a0003c0003t0007g0111 a0003c0003t0007g0120 a0003c0003t0007g0135 a0003c0003t0007g0136 a0003c0003t0044g0110 a0006c0011t0001g0079 a0006c0011t0001g0080 a0006c0011t0001g0081 a0006c0011t0001g0082 a0006c0011t0001g0085 a0007c0013t0007g0137 a0008c0026t0011g0286 a0011c0025t0003g0097	73	316	0.2310	-183	c.343 others(19): Show c.343-16319_343-16137del	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LOC128462377_chr16_89312046_89423292	89412096	CTACTGGG others(176): Show CTACTGGGCTGAGATGCCTCCCAGAGTCTCCTGGCCGTGCCCCATCCCTC CCCTCAGCCAGGTACTGGGCTGAGATGCCTCCCAGAGTCTCCTGGCCGTG CCCCATCCCTCCCCTCAGCCAGGTACTGGGCTGAGATGCCTCCCAGAGTC TCCTGGCCGTGCCCCATCCCTCCCCTCAGCCAGG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0007 a0001c0001t0000g0007	1	366	0.0027	-183	c.9+6 others(13): Show c.9+6005_9+6187del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LRRC27_chr10_132327193_132386508	132352501	GTGTGGGG others(176): Show GTGTGGGGCAGGCGCAGGTGCAGCGCTCCGTGTGGGGCAGATGCTGAGGC CTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGC CTCCGTGTGGGGCAGGCGCAGGTGCAGCGCTCCGTGTGGGGCAGGCGCTG AGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01361.hp2 others(22): Show HG00323.hp2 HG00735.hp2 HG01361.hp2 HG01891.hp2 HG01943.hp1 HG01993.hp1 HG02055.hp2 HG02145.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp1 HG03471.hp1 HG06807.hp2 NA19030.hp1 NA20805.hp2 NA20905.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0003 a0001c0007 a0001c0013 others(2): Show a0001c0003 a0001c0007 a0001c0013 a0003c0008 a0008c0012	a0001c0003t0006 a0001c0003t0007 a0001c0007t0007 others(3): Show a0001c0003t0006 a0001c0003t0007 a0001c0007t0007 a0001c0013t0007 a0003c0008t0007 a0008c0012t0006	a0001c0003t0006g0080 a0001c0003t0006g0082 a0001c0003t0006g0087 others(21): Show a0001c0003t0006g0080 a0001c0003t0006g0082 a0001c0003t0006g0087 a0001c0003t0006g0088 a0001c0003t0006g0089 a0001c0003t0006g0090 a0001c0003t0006g0091 a0001c0003t0006g0095 a0001c0003t0006g0096 a0001c0003t0006g0097 a0001c0003t0006g0098 a0001c0003t0006g0100 a0001c0003t0006g0101 a0001c0003t0007g0079 a0001c0003t0007g0085 a0001c0003t0007g0086 a0001c0003t0007g0092 a0001c0003t0007g0093 a0001c0003t0007g0094 a0001c0007t0007g0001 a0001c0013t0007g0081 a0003c0008t0007g0083 a0003c0008t0007g0084 a0008c0012t0006g0099	25	290	0.0862	-183	c.107 others(17): Show c.1073+760_1073+942del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LSP1_chr11_1848084_1897263	1893013	TGATGGAT others(176): Show TGATGGATGGATGAGTGGACGGATAAGCAGGTGAATGGATGGGTAGGTGG GTGAGTGGATGAATGGTTGGGTGGGTGAGTGGAGGGATGGGTGAGTGGAT GAATAGGGGATGGATGAATGGATAGACGGACATATGGATGAGTGAATGAG TAAGTGGGTGGGTGGGTGGATGGATGGATTGATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00597.hp2 others(57): Show HG00280.hp1 HG00323.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG02004.hp2 HG02083.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02976.hp1 HG03017.hp1 HG03195.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18952.hp2 NA18970.hp2 NA18973.hp1 NA18979.hp1 NA18998.hp1 NA18999.hp2 NA19005.hp1 NA19057.hp1 NA19066.hp2 NA19083.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0002 a0001c0003 a0002c0001 others(6): Show a0001c0002 a0001c0003 a0002c0001 a0002c0005 a0002c0007 a0002c0013 a0003c0004 a0005c0009 a0008c0010	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(7): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0002c0001t0005 a0002c0005t0001 a0002c0007t0001 a0002c0013t0001 a0003c0004t0001 a0005c0009t0001 a0008c0010t0001	a0001c0002t0001g0104 a0001c0002t0001g0125 a0001c0002t0001g0138 others(51): Show a0001c0002t0001g0104 a0001c0002t0001g0125 a0001c0002t0001g0138 a0001c0002t0001g0200 a0001c0003t0001g0066 a0001c0003t0001g0185 a0002c0001t0001g0009 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0021 a0002c0001t0001g0075 a0002c0001t0001g0081 a0002c0001t0001g0082 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0159 a0002c0001t0001g0189 a0002c0001t0001g0201 a0002c0001t0001g0202 a0002c0001t0001g0216 a0002c0001t0001g0228 a0002c0001t0001g0235 a0002c0001t0001g0244 a0002c0001t0001g0247 a0002c0001t0001g0250 a0002c0001t0001g0253 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0271 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0275 a0002c0001t0001g0276 a0002c0001t0001g0277 a0002c0001t0001g0278 a0002c0001t0001g0279 a0002c0001t0001g0280 a0002c0001t0001g0281 a0002c0001t0001g0282 a0002c0001t0001g0284 a0002c0001t0005g0266 a0002c0005t0001g0126 a0002c0005t0001g0134 a0002c0005t0001g0147 a0002c0005t0001g0158 a0002c0007t0001g0260 a0002c0007t0001g0261 a0002c0013t0001g0068 a0003c0004t0001g0211 a0003c0004t0001g0213 a0005c0009t0001g0171 a0005c0009t0001g0172 a0008c0010t0001g0064	60	360	0.1667	-183	c.12 others(11): Show c.1255_*1437del	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding		751		chr11	TogoVar
LYPD8_chr1_248734415_248760759	248747537	GCACCCAC others(176): Show GCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCG CCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCA CCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCAC GGCCAGCACCCACCCAGGGCATCCCCCGCACGGC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	374	0.0027	-183	c.337 others(15): Show c.337+569_337+751del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
MLPH_chr2_237482251_237560322	237544487	GGGGGACA others(176): Show GGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGGGACAGTTG TTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTTATTGGGGGC ATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGGTGATTGGGC ACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	286	0.0035	-183	c.153 others(19): Show c.1539+1831_1540-1934del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43496107	TGGTGGTG others(176): Show TGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGATGGTGGAGGTGGTG GTGGTGGAGGTGGTGATGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGA GGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGG TGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02896.hp1 others(2): Show HG02055.hp1 HG02258.hp2 HG02896.hp1 HG02897.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0175 a0001c0001t0005g0225 a0001c0001t0006g0189 others(2): Show a0001c0001t0005g0175 a0001c0001t0005g0225 a0001c0001t0006g0189 a0001c0001t0006g0191 a0001c0001t0006g0192	5	250	0.0200	-183	c.633 others(17): Show c.633-2112_633-1930del	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYADM_chr19_53862883_53881435	53870209	CGAGGGAG others(176): Show CGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCCGAGGGAGGAGGGG CTGGGGGCCTGGACTCCGGGGTCCGAGGGAGGAGGGGCTGGGGGCCTGGA CTCCGGGGTCCGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCCGAG GGAGGAGGGGCTGGGGGCCTGGGCTCCTGGGTCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp2 HG02145.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0070 a0001c0001t0069 a0001c0001t0070	a0001c0001t0069g0069 a0001c0001t0070g0068 a0001c0001t0069g0069 a0001c0001t0070g0068	2	378	0.0053	-183	c.-3+ others(13): Show c.-3+391_-3+573del	MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYO9A_chr15_71817291_72123150	71842088	TTAGACTG others(176): Show TTAGACTGGGCATGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGC CAAGGAGGGCAGATCACCTGAGGTCAGGAGTTCAATACCAACCTGGCCAA CAAGGCAAAACCCCATCTCTACTAAAAATAAATACAAAAATTAACCAGGC GTGGTAGTGCACACCTGTAGTCCCAGCTACTCGG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0025 a0026 a0025 a0026	a0025c0031 a0026c0030 a0025c0031 a0026c0030	a0025c0031t0021 a0026c0030t0021 a0025c0031t0021 a0026c0030t0021	a0025c0031t0021g0017 a0026c0030t0021g0018 a0025c0031t0021g0017 a0026c0030t0021g0018	2	308	0.0065	-183	c.683 others(19): Show c.6837+6574_6837+6756del	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	39/41			chr15	TogoVar
MYOM2_chr8_2040046_2150456	2085515	GCCCCCCA others(176): Show GCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCG TGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTC TGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCC	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0236 a0004c0007t0001g0236	1	403	0.0025	-183	c.164 others(17): Show c.1644+130_1644+312del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYZAP_chr15_57586904_57690364	57687440	TAATATGT others(176): Show TAATATGTGTGTACAATATACACATATATATAATATGTGTGTACAATATA CACATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATA CACATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATA CACATATATATAATATGTGTGTACAATATACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG01891.hp2 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0002g0024 a0001c0003t0002g0025	2	352	0.0057	-183	c.29 others(11): Show c.2943_*3125del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2077		chr15	TogoVar
NDC80_chr18_2566557_2621635	2614442	AGAAAGAA others(176): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	402	0.0025	-183	c.179 others(19): Show c.1792-1994_1792-1812del	NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16			chr18	TogoVar
NEU4_chr2_241804193_241822413	241806462	TCCCCCCT others(176): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0011 a0001c0004t0001g0011	1	319	0.0031	-183	c.-28 others(11): Show c.-2815_-2633del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2730		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806539	CCCCTCAG others(176): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0109 a0001c0004t0001g0109	1	319	0.0031	-183	c.-27 others(11): Show c.-2738_-2556del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2653		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806652	CCCCTCAG others(176): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	-183	c.-26 others(11): Show c.-2625_-2443del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2540		chr2	TogoVar
NMRK2_chr19_3928069_3947416	3937458	TTCCCCCG others(176): Show TTCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCC CCCAGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCCCCCG GGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCCCCCGGGGT CCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19043.hp1 NA20300.hp1 HG02965.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0056	3	404	0.0074	-183	c.166 others(15): Show c.166+201_166+383del	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NMRK2_chr19_3928069_3947416	3937489	GCTCCCCC others(176): Show GCTCCCCCTCCACTATTCCCCCAGGGTCCGCCCTCCTGCAATGCCCGCTC CCCCTCCACTATTCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCCC TCCACTATTCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCA CTATCCCCCGGGGTCCGCCCTCCTGCAATGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp2 HG02970.hp1 others(5): Show HG02818.hp1 HG02895.hp2 HG02970.hp1 HG02976.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0099 a0001c0001t0001g0112 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0002g0027 a0001c0001t0002g0078 a0001c0001t0002g0079	8	404	0.0198	-183	c.166 others(15): Show c.166+223_166+405del	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NRCAM_chr7_108142649_108461436	108163846	ATGAGAGG others(176): Show ATGAGAGGTCATACTGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGT GGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGG TCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCG GTAATGAGAGGTCATACCAGGTGGGGTGGGGTAG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	208	0.0048	-183	c.346 others(19): Show c.3466+2892_3466+3074del	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108163968	GTGAGAGG others(176): Show GTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCAGGT GGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGG TCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGG TAATGAGAGGTCATACCGGGTGGGGTGGCGGTAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0003 a0007c0019t0003	a0007c0019t0003g0171 a0007c0019t0003g0171	1	208	0.0048	-183	c.346 others(19): Show c.3466+2770_3466+2952del	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NTN5_chr19_48656407_48678017	48669597	CCACCACC others(176): Show CCACCACCACCATCATCACCACCATCACCACCACCAGTCATCACCATCAC CACCACCAACACCACCACCATCACCATCATCACCACCATCACCACCACCA TCATCACCATCACCACCATCACCACCACCACCACCATCACCATCACCACC ACCATCACCATCGTCACCACTACCATCACCATCA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01981.hp1 HG01978.hp2 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0151 a0001c0002t0002g0134 a0001c0002t0002g0151	2	412	0.0049	-183	c.631 others(15): Show c.631+576_631+758del	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NTSR1_chr20_62703836_62767771	62747309	ACCCACAG others(176): Show ACCCACAGCTAACACCACACTCAGTGTAAAGGCCACGTATGACAGACCCA CAGCTAACACCACACTCAGTGTAAAGGCCACGTATGACAGACCCACAGCT AACACCACACTCAGTGTAAAGGCCACGTATGATGACAGACCCACAGCTAA CACCACACTCAGTGTAAAGGCCACGTATGACAGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02148.hp1 HG02486.hp1 others(15): Show HG01884.hp2 HG02148.hp1 HG02486.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG02922.hp1 HG03579.hp2 HG03688.hp1 HG04115.hp1 HG04184.hp2 HG06807.hp1 NA18906.hp2 NA19009.hp1 NA19009.hp2 NA19079.hp1 NA19086.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0015 a0001c0001 a0001c0002 a0008c0015	a0001c0001t0021 a0001c0001t0027 a0001c0002t0001 others(5): Show a0001c0001t0021 a0001c0001t0027 a0001c0002t0001 a0001c0002t0007 a0001c0002t0028 a0001c0002t0042 a0001c0002t0043 a0008c0015t0056	a0001c0001t0021g0079 a0001c0001t0021g0194 a0001c0001t0027g0135 others(15): Show a0001c0001t0021g0079 a0001c0001t0021g0194 a0001c0001t0027g0135 a0001c0002t0001g0085 a0001c0002t0007g0035 a0001c0002t0007g0068 a0001c0002t0007g0076 a0001c0002t0007g0078 a0001c0002t0007g0131 a0001c0002t0007g0184 a0001c0002t0007g0186 a0001c0002t0007g0187 a0001c0002t0007g0189 a0001c0002t0007g0190 a0001c0002t0028g0134 a0001c0002t0042g0089 a0001c0002t0043g0022 a0008c0015t0056g0253	18	316	0.0570	-183	c.715 others(17): Show c.715-7305_715-7123del	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCNX1_chr14_70902459_71120382	71068623	TATAAAAA others(176): Show TATAAAAATATATATACATATATTGTTGCATGTATAGTCACAAGCAAAAT TACAGTTATTTTTTATGTGAACATATACATGCATATATGTATGTATATAT AATATACAAATAACATTTATATATTTTATATACATTATATATTATGTATA CTTCTACACATACATACATATATGGATATATACA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0046 a0001c0001t0037g0046	1	352	0.0028	-183	c.485 others(19): Show c.4853-4921_4853-4739del	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	26/35			chr14	TogoVar
PEX5_chr12_7184686_7216459	7196768	ATATATGT others(176): Show ATATATGTCACATATAATGTAATAATTATATATGTCACATAATGTAATAA TTATATATGTCACATATAATGTAATAATTATATATGTCACATATAATGTA ATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATATAA TGTAATAATTATATGTCACATATAATGTAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp2 HG01361.hp1 others(10): Show HG00741.hp2 HG01081.hp2 HG01361.hp1 HG01943.hp2 HG02027.hp2 HG02080.hp2 HG02109.hp1 HG02293.hp2 HG02886.hp2 HG03139.hp2 NA19005.hp1 NA19067.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0015 a0001c0001t0001g0093 a0001c0001t0001g0094 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0157 a0006c0009t0001g0102	13	428	0.0304	-183	c.449 others(17): Show c.449-2202_449-2020del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PHLDA2_chr11_2923273_2934420	2923278	GCTCAGGG others(176): Show GCTCAGGGCACACATCTGACACTCCATCCACCTGCCTGTCTGGGAGGCAG CAGATCCAGAAACTCAGGGCACACATCTGACACTCCATCCACCTGCCTGT CTGGGAGGCAGCAGATCCAGAAACTCAGGGCACACATCTGACACTCCATC CACCTGCCTGTCTGGGAGGCAGCAGATCCAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	375	0.0027	-183	c.52 others(11): Show c.5217_*5399del	PHLDA2	ENSG00000181649.8	transcript	ENST00000314222.5	protein_coding		4994		chr11	TogoVar
PLCB1_chr20_8127266_8889900	8206970	AAAAATAC others(176): Show AAAAATACAAGGAGAATAAAAATTGTGCCTTCACTCTGATATAAATATGT AAAATATGTTAGTTTATAGACAAAAGACTGTAAGAGGATGTTCAAAAATG AAGCCAGATGTTGCATTATAGTGTTGGTATTAAGGATGAGTTATTTTTCC TTTAAATTCTCTTCTGCTGTTATATGATATTTAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00741.hp2 others(24): Show HG00438.hp2 HG00639.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01496.hp2 HG01884.hp1 HG02258.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03492.hp2 HG03540.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0001c0005 others(8): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0011 a0001c0021 a0001c0023 a0002c0024 a0002c0025 a0007c0020	a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 others(19): Show a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0019 a0001c0004t0021 a0001c0005t0001 a0001c0005t0005 a0001c0005t0007 a0001c0005t0008 a0001c0005t0011 a0001c0009t0002 a0001c0009t0007 a0001c0010t0006 a0001c0011t0003 a0001c0011t0006 a0001c0021t0001 a0001c0023t0003 a0002c0024t0009 a0002c0025t0001 a0007c0020t0004	a0001c0001t0002g0011 a0001c0001t0002g0078 a0001c0004t0001g0040 others(24): Show a0001c0001t0002g0011 a0001c0001t0002g0078 a0001c0004t0001g0040 a0001c0004t0002g0065 a0001c0004t0002g0073 a0001c0004t0003g0016 a0001c0004t0003g0039 a0001c0004t0005g0051 a0001c0004t0019g0052 a0001c0004t0021g0042 a0001c0005t0001g0033 a0001c0005t0001g0082 a0001c0005t0005g0093 a0001c0005t0007g0032 a0001c0005t0008g0003 a0001c0005t0011g0068 a0001c0009t0002g0095 a0001c0009t0002g0103 a0001c0009t0007g0080 a0001c0010t0006g0085 a0001c0011t0003g0067 a0001c0011t0006g0066 a0001c0021t0001g0094 a0001c0023t0003g0106 a0002c0024t0009g0081 a0002c0025t0001g0044 a0007c0020t0004g0071	27	106	0.2547	-183	c.177 others(19): Show c.177+56605_177+56787del	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38895927	TCCTTCCT others(176): Show TCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTTCTTCTTTCTTCCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCCCCCTTCCTTCTTTCTTTC CTCTCTTCCTTCTTTCTTTTCTCCCTTCCTCCCTTCCTTTCTTCCCTCCC TTCCTCCCTTTCTGCCTTTCTTCTGTCTCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02451.hp1 HG02886.hp2 others(1): Show HG01261.hp2 HG02451.hp1 HG02886.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0210 a0001c0002t0007g0016 a0001c0002t0007g0206 others(1): Show a0001c0001t0001g0210 a0001c0002t0007g0016 a0001c0002t0007g0206 a0001c0002t0007g0234	4	244	0.0164	-183	c.467 others(15): Show c.467+237_467+419del	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP2R3B_chrX_328933_391907	376551	GCCATGGG others(176): Show GCCATGGGGCTGTCTATACACTACTGTATGCAGGGACGGGCCGTCCACAC CCAGTGGGGCCGCCATGGGGCTGTCTATACACTACTGTATGCAGGGACGG GCCATCCACACCCAGTGGGGCCACCATGGGGCTGTCTATACACTACTGTG TACAGGGACGGGCCGTCCACACCCAGTGGGGCCA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0013 a0009c0011t0013	a0009c0011t0013g0023 a0009c0011t0013g0023	1	25	0.0400	-183	c.324 others(17): Show c.324+9634_324+9816del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PRDM16_chr1_3064203_3443621	3300242	GCTCTGCC others(176): Show GCTCTGCCCTTGTTGAAGATGCTATGCTGTGGCCATGATGTTTCCGATCC CAGTCGTGGTGACTCTGCCCTTGTTGAAGATGCTATGCTGTGGCCATGAT GTTTCCGATCCCAGTCGTGGTGACTCTGCCCTGGTTGAAGATGCTATGCT GTGGCTGTGATGTTTCAGATCCCAGTCGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG04204.hp2 HG02258.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0083 a0001c0002t0001 a0001c0001t0083 a0001c0002t0001	a0001c0001t0083g0027 a0001c0002t0001g0095 a0001c0001t0083g0027 a0001c0002t0001g0095	2	210	0.0095	-183	c.438 others(19): Show c.438+56139_438+56321del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCA_chr17_66297613_66815743	66799061	GTGGTGGT others(176): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	178	0.0056	-183	c.185 others(19): Show c.1855-4773_1855-4591del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799400	GTGATGGT others(176): Show GTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTAGTGACGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0133 a0001c0001t0027g0133	1	178	0.0056	-183	c.185 others(19): Show c.1855-4470_1855-4288del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKG1_chr10_51069487_52303350	51858114	ATATAATA others(176): Show ATATAATATATATTATATATATACATATTATACATATATATAATATATAT TATATATATACATATTATACATATATATAATATATATTATATATATACAT ATTATACATATATATAATATATATTATATATAATACATATTATACATATA TATAATATTATACATATGTATAATTATACATATG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02258.hp2 HG02559.hp1 others(6): Show HG00735.hp1 HG02258.hp2 HG02559.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0006 a0001c0003t0011	a0001c0001t0001g0008 a0001c0001t0002g0041 a0001c0001t0002g0055 others(6): Show a0001c0001t0001g0008 a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0060 a0001c0001t0005g0018 a0001c0002t0006g0013 a0001c0003t0011g0016	9	64	0.1406	-183	c.699 others(19): Show c.699-49380_699-49198del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRR33_chr11_1883078_1896895	1893013	TGATGGAT others(176): Show TGATGGATGGATGAGTGGACGGATAAGCAGGTGAATGGATGGGTAGGTGG GTGAGTGGATGAATGGTTGGGTGGGTGAGTGGAGGGATGGGTGAGTGGAT GAATAGGGGATGGATGAATGGATAGACGGACATATGGATGAGTGAATGAG TAAGTGGGTGGGTGGGTGGATGGATGGATTGATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00597.hp2 others(48): Show HG00280.hp2 HG00323.hp2 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG02004.hp2 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02976.hp1 HG03017.hp1 HG03195.hp2 HG03239.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp2 NA18939.hp2 NA18943.hp2 NA18952.hp2 NA18959.hp2 NA18970.hp2 NA18979.hp2 NA18995.hp1 NA19005.hp2 NA19066.hp1 NA19085.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0014g0000 others(2): Show a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0014g0000 a0001c0001t0022g0000 a0001c0001t0023g0000	51	308	0.1656	-183	c.-26 others(11): Show c.-2612_-2430del	PRR33	ENSG00000283787.2	transcript	ENST00000640310.2	protein_coding		1119		chr11	TogoVar
PTPRH_chr19_55176247_55214501	55208015	TGGGGGTC others(176): Show TGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACT CCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGG AGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTGAGGGAGGAGGGGCTGGG GGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTG	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0017 a0017	a0017c0031 a0017c0031	a0017c0031t0001 a0017c0031t0001	a0017c0031t0001g0052 a0017c0031t0001g0052	1	378	0.0027	-183	c.52- others(13): Show c.52-999_52-817del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208122	CCTGGGGG others(176): Show CCTGGGGGCCTGGGGGCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCG ACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGA GGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0032 a0032	a0032c0115 a0032c0115	a0032c0115t0002 a0032c0115t0002	a0032c0115t0002g0035 a0032c0115t0002g0035	1	378	0.0027	-183	c.51+ others(14): Show c.51+1078_52-924del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208137	GCCTGGGT others(176): Show GCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGG GAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGG GGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGATTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACT	G G	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19074.hp2 NA18974.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0305 a0002c0002t0002g0304 a0001c0001t0001g0305 a0002c0002t0002g0304	2	378	0.0053	-183	c.51+ others(14): Show c.51+1063_52-939del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
RBFOX3_chr17_79084345_79616051	79555348	GGTGGTGG others(176): Show GGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGATGGTGG TGATGATGGTAGTTGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTG GTGGTAGTGATGATGATGATGACAATGATAATGGTGGTGATGACAGTGGT GGTGGTGGTGGTGATGGTGGTGGTGATGGTAGTT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG02809.hp1 others(1): Show HG02280.hp2 HG02723.hp1 HG02809.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0002t0005 a0001c0001t0004 a0001c0001t0008 a0001c0002t0005	a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0008g0096 others(1): Show a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0008g0096 a0001c0002t0005g0103	4	154	0.0260	-183	c.-32 others(21): Show c.-320+55295_-320+55477del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RNF213_chr17_80255852_80403794	80314448	ATGGAGGT others(176): Show ATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGT GGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGG AGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAG GTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02040.hp1 HG02132.hp2 others(2): Show HG00544.hp1 HG02040.hp1 HG02132.hp2 NA18973.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0082 a0002c0002 a0001c0004 a0001c0082 a0002c0002	a0001c0004t0007 a0001c0004t0011 a0001c0004t0014 others(2): Show a0001c0004t0007 a0001c0004t0011 a0001c0004t0014 a0001c0082t0005 a0002c0002t0005	a0001c0004t0007g0047 a0001c0004t0011g0048 a0001c0004t0014g0046 others(2): Show a0001c0004t0007g0047 a0001c0004t0011g0048 a0001c0004t0014g0046 a0001c0082t0005g0231 a0002c0002t0005g0073	5	292	0.0171	-183	c.281 others(19): Show c.2811+1294_2811+1476del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF4_chr4_2464106_2520857	2511216	TAAGGTCC others(176): Show TAAGGTCCCCAGGTCTTGCAGTCAGCACATGGTGTGGCTGTGGCAGCCCC CAGATAGTAAGGAAGGTCCCCAGGTCTTGCAGTCAGCACATGGTGTGGCT GTGGCAGCCCCCAGATAGTAAGGAAGGTCCCCAGGTCTTGCAGTCAGCAC ATGGTGTGGCTGTGGCAGCCCCCAGATAGTAAGG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp2 others(107): Show HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18950.hp1 NA18960.hp2 NA18962.hp1 NA18968.hp1 NA18970.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18986.hp2 NA18989.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp2 NA19067.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0022 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0003	a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0052 others(105): Show a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0119 a0001c0001t0001g0150 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0248 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0279 a0001c0001t0003g0291 a0001c0001t0003g0294 a0001c0001t0004g0033 a0001c0001t0004g0046 a0001c0001t0004g0270 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0292 a0001c0001t0004g0295 a0001c0001t0004g0331 a0001c0001t0004g0352 a0001c0001t0004g0356 a0001c0001t0007g0006 a0001c0001t0007g0303 a0001c0001t0007g0308 a0001c0001t0007g0320 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0328 a0001c0001t0007g0329 a0001c0001t0007g0330 a0001c0001t0007g0333 a0001c0001t0007g0334 a0001c0001t0009g0220 a0001c0001t0009g0223 a0001c0001t0009g0226 a0001c0001t0009g0227 a0001c0001t0009g0232 a0001c0001t0009g0256 a0001c0001t0010g0245 a0001c0001t0010g0249 a0001c0001t0010g0253 a0001c0001t0011g0364 a0001c0001t0011g0365 a0001c0001t0011g0366 a0001c0001t0011g0367 a0001c0001t0012g0221 a0001c0001t0012g0246 a0001c0001t0012g0247 a0001c0001t0015g0350 a0001c0001t0015g0351 a0001c0001t0022g0045 a0001c0001t0026g0081 a0001c0001t0030g0231 a0001c0001t0031g0228 a0001c0001t0032g0360 a0001c0002t0003g0217 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0236 a0001c0002t0003g0254 a0001c0002t0003g0255	110	378	0.2910	-183	c.205 others(15): Show c.205-452_205-270del	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC63_chr6_107862756_107963208	107934609	TCCGGGAG others(176): Show TCCGGGAGGGAGGTGGGGGTCAGCCCCCCGCCAGGCCAGCCACCCCGTCC AGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GCAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19064.hp1 NA19067.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0004 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(45): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0002t0007 a0001c0003t0006 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0014 a0001c0012t0001 a0002c0004t0003 a0004c0007t0043	a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0060 others(224): Show a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0072 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0103 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0208 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0213 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0006g0217 a0001c0001t0006g0220 a0001c0001t0006g0223 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0281 a0001c0001t0007g0043 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0016 a0001c0001t0008g0019 a0001c0001t0008g0020 a0001c0001t0008g0053 a0001c0001t0009g0091 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0009g0095 a0001c0001t0009g0109 a0001c0001t0009g0175 a0001c0001t0011g0081 a0001c0001t0011g0082 a0001c0001t0011g0085 a0001c0001t0011g0086 a0001c0001t0011g0088 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0014g0317 a0001c0001t0014g0320 a0001c0001t0016g0176 a0001c0001t0016g0177 a0001c0001t0016g0178 a0001c0001t0017g0318 a0001c0001t0017g0319 a0001c0001t0017g0321 a0001c0001t0020g0017 a0001c0001t0020g0018 a0001c0001t0022g0130 a0001c0001t0022g0133 a0001c0001t0023g0100 a0001c0001t0023g0131 a0001c0001t0024g0054 a0001c0001t0024g0055 a0001c0001t0028g0015 a0001c0001t0030g0209 a0001c0001t0031g0179 a0001c0001t0032g0094 a0001c0001t0033g0316 a0001c0001t0034g0315 a0001c0001t0035g0122 a0001c0001t0036g0083 a0001c0001t0037g0066 a0001c0001t0038g0253 a0001c0001t0039g0084 a0001c0001t0040g0142 a0001c0001t0041g0080 a0001c0001t0042g0062 a0001c0001t0044g0063 a0001c0001t0045g0140 a0001c0001t0046g0087 a0001c0001t0047g0141 a0001c0001t0048g0218 a0001c0001t0049g0221 a0001c0001t0050g0167 a0001c0001t0051g0071 a0001c0001t0052g0076 a0001c0002t0007g0046 a0001c0002t0007g0047 a0001c0002t0007g0048 a0001c0002t0007g0049 a0001c0002t0007g0050 a0001c0002t0007g0051 a0001c0002t0007g0052 a0001c0003t0006g0206 a0001c0003t0006g0219 a0001c0003t0006g0222 a0001c0006t0001g0157 a0001c0008t0001g0152 a0001c0009t0001g0277 a0001c0010t0001g0112 a0001c0011t0014g0207 a0001c0012t0001g0323 a0002c0004t0003g0159 a0002c0004t0003g0170 a0004c0007t0043g0322	228	332	0.6868	-183	c.125 others(17): Show c.125-5278_125-5096del	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20			chr6	TogoVar
SIGIRR_chr11_400716_419999	401260	GCCCCGCT others(176): Show GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCC GCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCGCTCACACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	242	0.0041	-183	c.44 others(11): Show c.4453_*4635del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4455		chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2923278	GCTCAGGG others(176): Show GCTCAGGGCACACATCTGACACTCCATCCACCTGCCTGTCTGGGAGGCAG CAGATCCAGAAACTCAGGGCACACATCTGACACTCCATCCACCTGCCTGT CTGGGAGGCAGCAGATCCAGAAACTCAGGGCACACATCTGACACTCCATC CACCTGCCTGTCTGGGAGGCAGCAGATCCAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0001 a0012c0028t0001	a0012c0028t0001g0073 a0012c0028t0001g0073	1	405	0.0025	-183	c.108 others(17): Show c.1087+776_1087+958del	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
TARS3_chr15_101648596_101729473	101692389	CGGCTCCA others(176): Show CGGCTCCAAGCTCTCTGTGGGTTCTGGTATTACTACTCCATCTCCTCACT TCTCTCCTCCACGGCTCCAAGCTCTCTGTGGGTTCTGGTATTACTACTCC ATCTCCTCACTTCTCTCCTCCACGGCTCCAAGCTCTCTGTGGGTTCTGGT ATTACTACTCCATCTCCTCACTTCTCTCCTCCAT	C C	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	278	0.0036	-183	c.132 others(19): Show c.1321-6510_1321-6328del	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	10/18			chr15	TogoVar
TRIM46_chr1_155168849_155189970	155189035	GCGGTGGA others(176): Show GCGGTGGAGCCCGGAGCCGGTCTGTTGTCCGGGGCCGAGGTGACACCGTG TGCTGGAGTGTCGGTGGAGCCCGAGGCCGGCCTGGTGTCCGGGGCCGAGG TGACACTGTGAGCTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGC TCTCTGTTTTAAATATACACCGTGGGCTGCGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02027.hp1 HG02300.hp1 others(3): Show HG01978.hp1 HG02027.hp1 HG02300.hp1 HG02897.hp2 NA19005.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0004t0001g0019 a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0004t0001g0019	6	348	0.0172	-183	c.48 others(11): Show c.4846_*5028del	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4066		chr1	TogoVar
TUBB4A_chr19_6489319_6507309	6493799	GTACCTGG others(176): Show GTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATT TTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGC CTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTG AGCCACCGTGCCCTACCCCTTTACTTTCTTAATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03471.hp1 HG03579.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0049 a0001c0001t0020g0214 a0001c0001t0020g0049 a0001c0001t0020g0214	3	428	0.0070	-183	c.11 others(11): Show c.1182_*1364del	TUBB4A	ENSG00000104833.12	transcript	ENST00000264071.7	protein_coding		519		chr19	TogoVar
TUBGCP5_chr15_22994177_23044569	23043903	TCACACCT others(176): Show TCACACCTGGCCAGAGATGCTGGGGGGCCATCATAACCCCACCTGGCCAG CGGTGCTGTGGGGCCATCATAACCCCACCTGGCCAGAGGTGCTGGGGGTG ACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGGATTTCATAACCC CACCTGGCCAGGGGTGCTGGGGGGACATCATAAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02559.hp2 others(8): Show HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02922.hp2 HG03041.hp1 HG03579.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0002 a0002c0005t0002 a0002c0004t0002 a0002c0005t0002	a0002c0004t0002g0029 a0002c0004t0002g0261 a0002c0004t0002g0262 others(7): Show a0002c0004t0002g0029 a0002c0004t0002g0261 a0002c0004t0002g0262 a0002c0004t0002g0263 a0002c0004t0002g0264 a0002c0004t0002g0268 a0002c0004t0002g0269 a0002c0005t0002g0260 a0002c0005t0002g0266 a0002c0005t0002g0267	11	351	0.0313	-183	c.-45 others(11): Show c.-4543_-4361del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4335		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238903865	NNNNNNNN others(176): Show NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNT	N N	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp2 HG02965.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0177 a0001c0001t0001g0097 a0001c0001t0001g0177	2	338	0.0059	-183	c.36 others(17): Show c.36-5977_*36-5795del	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UCKL1_chr20_63934829_63961416	63941959	TGGGTGTG others(176): Show TGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGGGGCG GGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAG GGAAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGT GACAGCGGCAGGGAAAGGGGCGGGGCCGGGAATG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA21309.hp1 HG00639.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0122 a0001c0001t0001g0020 a0001c0001t0001g0122	2	356	0.0056	-183	c.924 others(15): Show c.924-934_924-752del	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar
UCKL1_chr20_63934829_63961416	63942138	GAATGGGG others(176): Show GAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGG GGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCG GCAGGGAAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAG GCGTGACAGCGGCAGGGAAAGGGGCGGGGCCGGA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	356	0.0028	-183	c.924 others(16): Show c.924-1113_924-931del	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar
UNC5A_chr5_176805559_176885898	176859250	AATGCCCT others(176): Show AATGCCCTTGCTAGAGGGCATAGCTGCTACAATGTCCTTGCTAGAGGGCA TGGCTGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAGAATGCCCTTG CTAGAGGGCATGGCTGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAG AATGTCCTTGCTAGAGGGCATAGCTGCTAGAATG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0061 a0001c0001t0014g0061	1	268	0.0037	-183	c.71- others(15): Show c.71-3370_71-3188del	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar

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