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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Select column to sort.

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Results per page.

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
UGGT2_chr13_95796580_96058401	95811710	TAACAATA others(10): Show TAACAATAGCATAAGAGA	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0167 a0004c0006t0001g0167	1	332	0.0030	-17	c.452 others(36): Show c.4529-9915_4529-9899delTCTCTTATGCTATTGTT	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	38/38			chr13	TogoVar
UGGT2_chr13_95796580_96058401	95864972	CAAAATAC others(10): Show CAAAATACTGAAAGCTTT	C C	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	332	0.0030	-17	c.355 others(36): Show c.3559-1275_3559-1259delAAAGCTTTCAGTATTTT	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	30/38			chr13	TogoVar
UGGT2_chr13_95796580_96058401	95924393	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03516.hp2 HG01884.hp2 HG03516.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0022 a0009c0017t0001g0023 a0009c0017t0001g0022 a0009c0017t0001g0023	2	332	0.0060	-17	c.229 others(36): Show c.2295+1270_2295+1286delAAAAAAAAAAAAAAAAA	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	20/38			chr13	TogoVar
UGT3A2_chr5_36030021_36071882	36043700	AAGGATCA others(10): Show AAGGATCATTAGAAACAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00544.hp2 others(51): Show HG00140.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp1 HG01081.hp1 HG01099.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02148.hp1 HG02273.hp1 HG02523.hp1 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG03453.hp2 HG03669.hp2 HG03927.hp1 HG04199.hp1 HG06807.hp2 NA18943.hp1 NA18946.hp2 NA18951.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp2 NA18995.hp1 NA18998.hp1 NA19003.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19087.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0005c0004t0001	a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0040 others(23): Show a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0099 a0001c0001t0002g0002 a0001c0001t0002g0038 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0003g0011 a0001c0001t0003g0110 a0001c0001t0005g0111 a0001c0001t0013g0055 a0005c0004t0001g0158	54	410	0.1317	-17	c.844 others(34): Show c.844-4009_844-3993delATGTTTCTAATGATCCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding	4/6			chr5	TogoVar
UGT8_chr4_114593807_114683225	114598693	GGGGCGCG others(10): Show GGGGCGCGGCTGGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(189): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0003 a0001c0011 others(7): Show a0001c0001 a0001c0003 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0002c0002 a0003c0004 a0006c0010 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0003t0005 a0001c0011t0001 a0001c0013t0003 a0001c0014t0018 a0001c0015t0021 a0002c0002t0002 a0002c0002t0017 a0003c0004t0001 a0006c0010t0002 a0008c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(170): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0115 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0005g0057 a0001c0001t0005g0077 a0001c0001t0005g0110 a0001c0001t0007g0058 a0001c0001t0007g0063 a0001c0001t0007g0068 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0001t0007g0076 a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0008g0175 a0001c0001t0009g0015 a0001c0001t0009g0206 a0001c0001t0009g0207 a0001c0001t0009g0209 a0001c0001t0010g0222 a0001c0001t0010g0223 a0001c0001t0010g0224 a0001c0001t0010g0225 a0001c0001t0011g0203 a0001c0001t0011g0204 a0001c0001t0011g0205 a0001c0001t0012g0202 a0001c0001t0013g0003 a0001c0001t0013g0051 a0001c0001t0015g0231 a0001c0001t0016g0227 a0001c0001t0022g0119 a0001c0001t0023g0210 a0001c0003t0005g0041 a0001c0011t0001g0047 a0001c0013t0003g0212 a0001c0014t0018g0168 a0001c0015t0021g0165 a0002c0002t0002g0001 a0002c0002t0002g0004 a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0149 a0002c0002t0002g0151 a0002c0002t0002g0153 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0177 a0002c0002t0002g0179 a0002c0002t0002g0230 a0002c0002t0002g0232 a0002c0002t0017g0134 a0003c0004t0001g0007 a0003c0004t0001g0046 a0003c0004t0001g0094 a0006c0010t0002g0023 a0008c0008t0001g0096	192	280	0.6857	-17	c.-28 others(26): Show c.-283_-267delGGGCGCGGCTGGGGGGC	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding		113		chr4	TogoVar
UHRF2_chr9_6408199_6512054	6428533	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 NA19240.hp1 HG02145.hp2 HG02922.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0016 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0001t0001g0016 a0001c0003t0001g0014 a0001c0003t0001g0015	3	318	0.0094	-17	c.385 others(34): Show c.385-5359_385-5343delTTTTTTTTTTTTTTTTT	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
UHRF2_chr9_6408199_6512054	6488251	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00597.hp2 others(32): Show HG00323.hp1 HG00323.hp2 HG00597.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01975.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02896.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 NA18970.hp2 NA18972.hp2 NA19009.hp1 NA19030.hp1 NA19072.hp2 NA19085.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0044 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0099 a0001c0001t0001g0132 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0083 a0001c0002t0001g0100 a0001c0003t0001g0013 a0001c0003t0001g0037	35	318	0.1101	-17	c.149 others(36): Show c.1497+1366_1497+1382delAAAAAAAAAAAAAAAAA	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
UIMC1_chr5_176900006_177011779	176964112	TCTTGCTA others(10): Show TCTTGCTATCTCTATCAA	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	330	0.0030	-17	c.120 others(36): Show c.1200+4426_1200+4442delTTGATAGAGATAGCAAG	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	6/14			chr5	TogoVar
ULBP3_chr6_150056053_150074121	150067572	CTGGATTT others(10): Show CTGGATTTCTACCGGGAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp2 HG03540.hp1 HG01192.hp1 HG02055.hp2 HG03540.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0022 a0001c0001t0001 a0006c0006t0022	a0001c0001t0001g0054 a0006c0006t0022g0026 a0001c0001t0001g0054 a0006c0006t0022g0026	3	458	0.0066	-17	c.88+ others(32): Show c.88+1390_88+1406delTTCCCGGTAGAAATCCA	ULBP3	ENSG00000131019.11	transcript	ENST00000367339.7	protein_coding	1/4			chr6	TogoVar
ULK4_chr3_41241599_41967103	41338756	CATATATA others(10): Show CATATATATATGACATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG03209.hp1 others(1): Show HG02895.hp2 HG02896.hp2 HG03209.hp1 NA18522.hp2	a0008 a0011 a0012 a0008 a0011 a0012	a0008c0011 a0011c0018 a0012c0017 a0008c0011 a0011c0018 a0012c0017	a0008c0011t0002 a0011c0018t0001 a0012c0017t0001 a0008c0011t0002 a0011c0018t0001 a0012c0017t0001	a0008c0011t0002g0010 a0008c0011t0002g0011 a0011c0018t0001g0050 others(1): Show a0008c0011t0002g0010 a0008c0011t0002g0011 a0011c0018t0001g0050 a0012c0017t0001g0022	4	72	0.0556	-17	c.367 others(38): Show c.3678+59306_3678+59322delATATGTCATATATATAT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41564194	CTGCAGAA others(10): Show CTGCAGAACAGCAAATAA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	72	0.0139	-17	c.322 others(36): Show c.3226+1814_3226+1830delTTATTTGCTGTTCTGCA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41883768	CAGAGAAA others(10): Show CAGAGAAAAAACAAGTGA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01071.hp1 others(33): Show HG00621.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01243.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG03209.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0016 others(5): Show a0001 a0007 a0016 a0017 a0018 a0019 a0020 a0021	a0001c0001 a0007c0007 a0016c0021 others(5): Show a0001c0001 a0007c0007 a0016c0021 a0017c0019 a0018c0020 a0019c0022 a0020c0023 a0021c0024	a0001c0001t0001 a0001c0001t0003 a0007c0007t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0007c0007t0001 a0016c0021t0001 a0017c0019t0003 a0018c0020t0001 a0019c0022t0001 a0020c0023t0001 a0021c0024t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 others(33): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0007c0007t0001g0023 a0007c0007t0001g0025 a0007c0007t0001g0034 a0016c0021t0001g0045 a0017c0019t0003g0071 a0018c0020t0001g0037 a0019c0022t0001g0029 a0020c0023t0001g0024 a0021c0024t0001g0027	36	72	0.5000	-17	c.165 others(33): Show c.1656+89_1656+105delTCACTTGTTTTTTCTCT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41890851	GAAGGGAT others(10): Show GAAGGGATGCGGGGAAGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0050 a0011c0018t0001g0050	1	72	0.0139	-17	c.157 others(36): Show c.1577+4650_1577+4666delTCTTCCCCGCATCCCTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41935201	ATTTATTT others(10): Show ATTTATTTATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0068 a0003c0002t0005g0068	1	72	0.0139	-17	c.378 others(32): Show c.378+583_378+599delAAAAAAAAATAAATAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	4/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7643717	AAAAAAAA others(10): Show AAAAAAAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0237 a0001c0001t0027g0237	1	250	0.0040	-17	c.-64 others(34): Show c.-64+2897_-64+2913delAAAAAAAACAAACAAAC	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	1/3			chr7	TogoVar
UMAD1_chr7_7635752_7884223	7643718	AAAAAAAA others(10): Show AAAAAAAACAAACAAACG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00733.hp2 others(80): Show HG00544.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01993.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03927.hp1 NA18522.hp2 NA18906.hp2 NA18968.hp2 NA18986.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0084 a0001c0002t0073 a0001c0004t0039	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0029 others(80): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0114 a0001c0001t0002g0014 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0109 a0001c0001t0003g0238 a0001c0001t0005g0022 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0036 a0001c0001t0007g0032 a0001c0001t0007g0035 a0001c0001t0007g0039 a0001c0001t0008g0155 a0001c0001t0009g0021 a0001c0001t0009g0123 a0001c0001t0012g0108 a0001c0001t0014g0002 a0001c0001t0014g0009 a0001c0001t0014g0015 a0001c0001t0014g0110 a0001c0001t0014g0219 a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0016g0145 a0001c0001t0016g0146 a0001c0001t0020g0026 a0001c0001t0020g0028 a0001c0001t0020g0216 a0001c0001t0021g0006 a0001c0001t0021g0025 a0001c0001t0021g0042 a0001c0001t0022g0121 a0001c0001t0022g0239 a0001c0001t0024g0038 a0001c0001t0024g0230 a0001c0001t0026g0226 a0001c0001t0027g0221 a0001c0001t0027g0228 a0001c0001t0028g0018 a0001c0001t0029g0215 a0001c0001t0029g0217 a0001c0001t0032g0019 a0001c0001t0032g0113 a0001c0001t0034g0164 a0001c0001t0035g0223 a0001c0001t0036g0163 a0001c0001t0036g0225 a0001c0001t0037g0220 a0001c0001t0037g0224 a0001c0001t0039g0153 a0001c0001t0040g0005 a0001c0001t0041g0229 a0001c0001t0042g0162 a0001c0001t0043g0125 a0001c0001t0043g0126 a0001c0001t0044g0120 a0001c0001t0053g0020 a0001c0001t0054g0227 a0001c0001t0055g0231 a0001c0001t0057g0122 a0001c0001t0058g0165 a0001c0001t0059g0151 a0001c0001t0060g0213 a0001c0001t0061g0152 a0001c0001t0064g0190 a0001c0001t0065g0214 a0001c0001t0066g0115 a0001c0001t0067g0222 a0001c0001t0071g0004 a0001c0001t0072g0024 a0001c0001t0074g0240 a0001c0001t0075g0016 a0001c0001t0084g0188 a0001c0002t0073g0241 a0001c0004t0039g0154	83	250	0.3320	-17	c.-64 others(34): Show c.-64+2905_-64+2921delCAAACAAACGAAAAAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7660756	GGTGAATC others(10): Show GGTGAATCTGGCAATTAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01123.hp1 others(12): Show HG00140.hp1 HG00639.hp1 HG01123.hp1 HG01255.hp1 HG01256.hp1 HG02735.hp1 NA18959.hp2 NA18960.hp1 NA18975.hp2 NA18984.hp1 NA19001.hp2 NA19004.hp2 NA19011.hp1 NA19076.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 others(5): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0031 a0001c0001t0033 a0001c0001t0038	a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0200 others(12): Show a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0007g0195 a0001c0001t0017g0201 a0001c0001t0018g0198 a0001c0001t0023g0202 a0001c0001t0031g0209 a0001c0001t0033g0203 a0001c0001t0038g0199	15	250	0.0600	-17	c.-63 others(36): Show c.-63-12549_-63-12533delAATCTGGCAATTATGTG	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7790248	CTTGTGTA others(10): Show CTTGTGTACACCGGAATG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	250	0.0040	-17	c.83- others(34): Show c.83-11420_83-11404delTGTGTACACCGGAATGT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7835462	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01993.hp1 HG02135.hp2 others(2): Show HG00558.hp2 HG01993.hp1 HG02135.hp2 NA18957.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0069	a0001c0001t0002g0109 a0001c0001t0010g0168 a0001c0001t0011g0040 others(2): Show a0001c0001t0002g0109 a0001c0001t0010g0168 a0001c0001t0011g0040 a0001c0001t0011g0045 a0001c0001t0069g0051	5	250	0.0200	-17	c.156 others(36): Show c.156+33741_156+33757delTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847099	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0146 a0001c0001t0016g0146	1	250	0.0040	-17	c.157 others(36): Show c.157-30180_157-30164delAAAAATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847103	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02109.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0052 a0001c0001t0036 a0001c0001t0052	a0001c0001t0036g0225 a0001c0001t0052g0137 a0001c0001t0036g0225 a0001c0001t0052g0137	2	250	0.0080	-17	c.157 others(36): Show c.157-30176_157-30160delATATATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847105	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0223 a0001c0001t0035g0223	1	250	0.0040	-17	c.157 others(36): Show c.157-30175_157-30159delTATATATATATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3			chr7	TogoVar
UMODL1_chr21_42066317_42147996	42130492	AGTTGTCC others(10): Show AGTTGTCCCGTAGTATCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0002 a0016c0017t0002	a0016c0017t0002g0127 a0016c0017t0002g0127	1	400	0.0025	-17	c.377 others(34): Show c.3775+699_3775+715delGTCCCGTAGTATCTGTT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42140682	TCCCAGTT others(10): Show TCCCAGTTGAGAGGCAGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00438.hp1 others(81): Show HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03654.hp2 HG03710.hp2 HG04184.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18985.hp1 NA18992.hp1 NA18999.hp2 NA19000.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19087.hp2 NA19091.hp1	a0004 a0005 a0009 others(36): Show a0004 a0005 a0009 a0015 a0016 a0030 a0032 a0036 a0041 a0042 a0044 a0045 a0047 a0048 a0051 a0053 a0064 a0065 a0066 a0068 a0069 a0070 a0071 a0080 a0082 a0084 a0086 a0087 a0089 a0093 a0098 a0099 a0109 a0110 a0112 a0116 a0123 a0126 a0128	a0004c0006 a0004c0032 a0004c0033 others(45): Show a0004c0006 a0004c0032 a0004c0033 a0004c0126 a0004c0199 a0005c0002 a0009c0018 a0015c0010 a0016c0017 a0030c0025 a0032c0048 a0032c0094 a0036c0060 a0036c0123 a0041c0037 a0042c0176 a0042c0177 a0044c0058 a0045c0047 a0047c0049 a0048c0056 a0051c0151 a0051c0185 a0053c0138 a0053c0183 a0064c0068 a0065c0083 a0066c0084 a0068c0072 a0069c0082 a0070c0077 a0071c0079 a0080c0115 a0082c0160 a0084c0119 a0086c0174 a0087c0089 a0089c0175 a0093c0097 a0098c0104 a0099c0099 a0109c0190 a0110c0187 a0112c0131 a0116c0125 a0123c0087 a0126c0086 a0128c0203	a0004c0006t0002 a0004c0032t0002 a0004c0033t0002 others(45): Show a0004c0006t0002 a0004c0032t0002 a0004c0033t0002 a0004c0126t0002 a0004c0199t0002 a0005c0002t0002 a0009c0018t0019 a0015c0010t0002 a0016c0017t0002 a0030c0025t0013 a0032c0048t0002 a0032c0094t0002 a0036c0060t0002 a0036c0123t0002 a0041c0037t0015 a0042c0176t0002 a0042c0177t0002 a0044c0058t0002 a0045c0047t0002 a0047c0049t0002 a0048c0056t0002 a0051c0151t0002 a0051c0185t0002 a0053c0138t0002 a0053c0183t0002 a0064c0068t0002 a0065c0083t0002 a0066c0084t0002 a0068c0072t0015 a0069c0082t0019 a0070c0077t0002 a0071c0079t0002 a0080c0115t0002 a0082c0160t0002 a0084c0119t0013 a0086c0174t0002 a0087c0089t0002 a0089c0175t0002 a0093c0097t0002 a0098c0104t0002 a0099c0099t0002 a0109c0190t0002 a0110c0187t0002 a0112c0131t0002 a0116c0125t0002 a0123c0087t0002 a0126c0086t0002 a0128c0203t0011	a0004c0006t0002g0012 a0004c0006t0002g0164 a0004c0006t0002g0167 others(80): Show a0004c0006t0002g0012 a0004c0006t0002g0164 a0004c0006t0002g0167 a0004c0006t0002g0194 a0004c0006t0002g0204 a0004c0006t0002g0206 a0004c0006t0002g0209 a0004c0006t0002g0228 a0004c0006t0002g0393 a0004c0032t0002g0036 a0004c0032t0002g0057 a0004c0033t0002g0240 a0004c0033t0002g0335 a0004c0033t0002g0362 a0004c0126t0002g0118 a0004c0199t0002g0084 a0005c0002t0002g0049 a0005c0002t0002g0091 a0005c0002t0002g0092 a0005c0002t0002g0093 a0005c0002t0002g0096 a0005c0002t0002g0098 a0005c0002t0002g0170 a0005c0002t0002g0171 a0005c0002t0002g0173 a0005c0002t0002g0239 a0005c0002t0002g0300 a0005c0002t0002g0314 a0009c0018t0019g0294 a0015c0010t0002g0236 a0015c0010t0002g0241 a0015c0010t0002g0249 a0015c0010t0002g0268 a0016c0017t0002g0120 a0016c0017t0002g0126 a0016c0017t0002g0127 a0016c0017t0002g0132 a0016c0017t0002g0140 a0030c0025t0013g0005 a0030c0025t0013g0368 a0032c0048t0002g0014 a0032c0048t0002g0015 a0032c0094t0002g0095 a0036c0060t0002g0199 a0036c0060t0002g0349 a0036c0123t0002g0105 a0041c0037t0015g0243 a0041c0037t0015g0343 a0042c0176t0002g0088 a0042c0177t0002g0089 a0044c0058t0002g0215 a0044c0058t0002g0216 a0045c0047t0002g0290 a0047c0049t0002g0266 a0047c0049t0002g0288 a0048c0056t0002g0196 a0051c0151t0002g0020 a0051c0185t0002g0099 a0053c0138t0002g0200 a0053c0183t0002g0303 a0064c0068t0002g0282 a0065c0083t0002g0248 a0066c0084t0002g0232 a0068c0072t0015g0265 a0069c0082t0019g0330 a0070c0077t0002g0034 a0071c0079t0002g0264 a0080c0115t0002g0153 a0082c0160t0002g0041 a0084c0119t0013g0279 a0086c0174t0002g0340 a0087c0089t0002g0187 a0089c0175t0002g0192 a0093c0097t0002g0287 a0098c0104t0002g0246 a0099c0099t0002g0109 a0109c0190t0002g0392 a0110c0187t0002g0179 a0112c0131t0002g0176 a0116c0125t0002g0044 a0123c0087t0002g0007 a0126c0086t0002g0218 a0128c0203t0011g0033	84	400	0.2100	-17	c.22 others(34): Show c.22-1413_*22-1397delCCCAGTTGAGAGGCAGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	22/22			chr21	TogoVar
UMPS_chr3_124725452_124754273	124750093	AGGGCGGC others(10): Show AGGGCGGCTGGCCGGACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(113): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02132.hp1 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02922.hp1 HG03195.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18940.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0013 a0003c0003 others(1): Show a0001c0001 a0001c0013 a0003c0003 a0003c0008	a0001c0001t0001 a0001c0001t0018 a0001c0001t0023 others(14): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0023 a0001c0001t0040 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0087 a0001c0001t0101 a0001c0013t0001 a0003c0003t0008 a0003c0003t0031 a0003c0003t0045 a0003c0003t0046 a0003c0003t0100 a0003c0008t0008	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0018g0001 a0001c0001t0023g0022 a0001c0001t0023g0035 a0001c0001t0040g0022 a0001c0001t0072g0127 a0001c0001t0073g0001 a0001c0001t0074g0022 a0001c0001t0075g0124 a0001c0001t0087g0001 a0001c0001t0101g0001 a0001c0013t0001g0009 a0003c0003t0008g0006 a0003c0003t0031g0006 a0003c0003t0031g0094 a0003c0003t0045g0006 a0003c0003t0046g0006 a0003c0003t0046g0092 a0003c0003t0100g0006 a0003c0008t0008g0006 a0003c0008t0008g0093	116	434	0.2673	-17	c.60 others(28): Show c.6010_*6026delGGGCGGCTGGCCGGACG	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		821		chr3	TogoVar
UNC13C_chr15_53973441_54633605	54075414	GCGGAGCT others(10): Show GCGGAGCTTGCAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG01109.hp2 others(62): Show HG00423.hp2 HG00639.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01515.hp1 HG01891.hp1 HG01978.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03927.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18979.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp2 NA19064.hp2 NA19081.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0001c0014 a0001c0021 a0001c0029 a0001c0035 a0002c0015 a0002c0016 a0002c0017 a0002c0019 a0003c0008 a0003c0038 a0004c0026 a0005c0011 a0007c0010 a0009c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0037 a0001c0001t0059 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0048 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0042 a0001c0004t0018 a0001c0004t0028 a0001c0004t0052 a0001c0005t0003 a0001c0007t0001 a0001c0012t0017 a0001c0014t0002 a0001c0021t0013 a0001c0029t0046 a0001c0035t0001 a0002c0015t0012 a0002c0016t0004 a0002c0017t0007 a0002c0019t0031 a0003c0008t0015 a0003c0038t0011 a0004c0026t0001 a0005c0011t0003 a0007c0010t0002 a0009c0023t0043	a0001c0001t0001g0003 a0001c0001t0002g0067 a0001c0001t0002g0074 others(62): Show a0001c0001t0001g0003 a0001c0001t0002g0067 a0001c0001t0002g0074 a0001c0001t0002g0141 a0001c0001t0006g0124 a0001c0001t0006g0137 a0001c0001t0007g0016 a0001c0001t0011g0150 a0001c0001t0012g0056 a0001c0001t0015g0070 a0001c0001t0016g0115 a0001c0001t0017g0136 a0001c0001t0019g0042 a0001c0001t0025g0004 a0001c0001t0029g0090 a0001c0001t0030g0142 a0001c0001t0037g0158 a0001c0001t0059g0147 a0001c0002t0001g0005 a0001c0002t0001g0040 a0001c0002t0005g0123 a0001c0002t0005g0126 a0001c0002t0006g0112 a0001c0002t0008g0075 a0001c0002t0008g0081 a0001c0002t0009g0134 a0001c0002t0020g0024 a0001c0002t0020g0041 a0001c0002t0021g0080 a0001c0002t0022g0086 a0001c0002t0022g0092 a0001c0002t0023g0064 a0001c0002t0023g0098 a0001c0002t0024g0138 a0001c0002t0048g0111 a0001c0003t0002g0088 a0001c0003t0003g0065 a0001c0003t0003g0103 a0001c0003t0005g0120 a0001c0003t0009g0110 a0001c0003t0010g0023 a0001c0003t0010g0026 a0001c0003t0042g0107 a0001c0004t0018g0096 a0001c0004t0028g0148 a0001c0004t0052g0036 a0001c0005t0003g0066 a0001c0007t0001g0029 a0001c0012t0017g0109 a0001c0014t0002g0076 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0029t0046g0143 a0001c0035t0001g0001 a0002c0015t0012g0054 a0002c0016t0004g0053 a0002c0016t0004g0055 a0002c0017t0007g0060 a0002c0019t0031g0071 a0003c0008t0015g0105 a0003c0038t0011g0002 a0004c0026t0001g0022 a0005c0011t0003g0078 a0007c0010t0002g0139 a0009c0023t0043g0129	65	158	0.4114	-17	c.298 others(38): Show c.2983+59599_2983+59615delGAGCTTGCAGTGAGCCG	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54625310	TTTCTATT others(10): Show TTTCTATTGCAAACAGCA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp1 NA20129.hp2 HG03098.hp2 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0022 a0001c0002t0051 a0001c0004t0028 a0001c0002t0022 a0001c0002t0051 a0001c0004t0028	a0001c0002t0022g0092 a0001c0002t0051g0157 a0001c0004t0028g0148 a0001c0002t0022g0092 a0001c0002t0051g0157 a0001c0004t0028g0148	3	158	0.0190	-17	c.635 others(36): Show c.6359+1374_6359+1390delTTCTATTGCAAACAGCA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC50_chr2_98603589_98623515	98619076	TTAACAAA others(10): Show TTAACAAAGTTAATAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	414	0.0024	-17	c.77 others(26): Show c.773_*789delTAACAAAGTTAATAATA	UNC50	ENSG00000115446.12	transcript	ENST00000357765.7	protein_coding		562		chr2	TogoVar
UNC5CL_chr6_41021895_41044221	41041325	TCCACCCT others(10): Show TCCACCCTCCTCCCAGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	384	0.0026	-17	c.-22 others(28): Show c.-2242_-2226delGGCTGGGAGGAGGGTGG	UNC5CL	ENSG00000124602.10	transcript	ENST00000244565.8	protein_coding		2105		chr6	TogoVar
UNC5C_chr4_95157504_95553973	95192753	CCTTGCCC others(10): Show CCTTGCCCTGCATAACAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0038 a0002c0008t0002g0038	1	204	0.0049	-17	c.213 others(36): Show c.2137-7574_2137-7558delTTGTTATGCAGGGCAAG	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95212302	TCTTTCTT others(10): Show TCTTTCTTTACATTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02280.hp1 HG02280.hp2 others(5): Show HG00733.hp1 HG02280.hp1 HG02280.hp2 HG02622.hp2 HG02698.hp1 HG02895.hp2 HG03540.hp1 NA19030.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0001c0027 a0001c0037 others(3): Show a0001c0003 a0001c0027 a0001c0037 a0002c0026 a0002c0036 a0005c0035	a0001c0003t0003 a0001c0003t0013 a0001c0027t0001 others(4): Show a0001c0003t0003 a0001c0003t0013 a0001c0027t0001 a0001c0037t0037 a0002c0026t0002 a0002c0036t0022 a0005c0035t0002	a0001c0003t0003g0191 a0001c0003t0013g0057 a0001c0003t0013g0078 others(5): Show a0001c0003t0003g0191 a0001c0003t0013g0057 a0001c0003t0013g0078 a0001c0027t0001g0177 a0001c0037t0037g0199 a0002c0026t0002g0050 a0002c0036t0022g0104 a0005c0035t0002g0106	8	204	0.0392	-17	c.173 others(36): Show c.1733+3805_1733+3821delTAAAAATGTAAAGAAAG	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	10/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35498079	CAAAACAA others(10): Show CAAAACAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00597.hp1 others(17): Show HG00438.hp1 HG00438.hp2 HG00597.hp1 HG01123.hp2 HG01928.hp1 HG02083.hp1 HG02129.hp1 HG02257.hp1 HG02257.hp2 HG02615.hp1 HG02886.hp2 HG02922.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03688.hp2 NA18522.hp1 NA18983.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0019 a0001c0002t0015 a0001c0003t0003 a0001c0003t0011 a0001c0003t0012 a0001c0003t0014 a0001c0004t0003 a0001c0009t0001 a0002c0005t0018	a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0028 others(17): Show a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0002g0018 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0006g0010 a0001c0001t0019g0011 a0001c0002t0015g0043 a0001c0003t0003g0009 a0001c0003t0003g0022 a0001c0003t0011g0056 a0001c0003t0012g0058 a0001c0003t0014g0040 a0001c0004t0003g0004 a0001c0009t0001g0036 a0002c0005t0018g0054	20	64	0.3125	-17	c.104 others(36): Show c.104-51208_104-51192delCAAAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93490477	ACTTTGCT others(10): Show ACTTTGCTAAGAAATTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp1 HG03516.hp1 HG02965.hp1 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0001 a0001c0019t0001g0002 a0001c0019t0001g0171 a0001c0019t0001g0001 a0001c0019t0001g0002 a0001c0019t0001g0171	3	193	0.0155	-17	c.712 others(34): Show c.712+2726_712+2742delTGCTAAGAAATTTTCTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	5/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93558593	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00735.hp2 others(18): Show HG00323.hp2 HG00597.hp1 HG00735.hp2 HG00741.hp2 HG01168.hp1 HG01168.hp2 HG02135.hp2 HG02273.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03098.hp2 HG03225.hp1 HG03486.hp2 NA18962.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0012	a0001c0001 a0001c0005 a0001c0009 others(9): Show a0001c0001 a0001c0005 a0001c0009 a0001c0020 a0001c0021 a0001c0035 a0002c0003 a0002c0007 a0002c0040 a0003c0004 a0005c0012 a0012c0026	a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 others(9): Show a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 a0001c0020t0001 a0001c0021t0001 a0001c0035t0001 a0002c0003t0001 a0002c0007t0001 a0002c0040t0001 a0003c0004t0001 a0005c0012t0001 a0012c0026t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 others(18): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0001g0133 a0001c0005t0001g0153 a0001c0009t0001g0191 a0001c0020t0001g0082 a0001c0021t0001g0190 a0001c0021t0001g0192 a0001c0035t0001g0011 a0002c0003t0001g0115 a0002c0003t0001g0136 a0002c0003t0001g0150 a0002c0007t0001g0072 a0002c0040t0001g0097 a0003c0004t0001g0154 a0003c0004t0001g0155 a0005c0012t0001g0147 a0012c0026t0001g0084	21	193	0.1088	-17	c.175 others(38): Show c.1756-13273_1756-13257delTTTTTTTTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	14/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209804756	TTTTTTTG others(10): Show TTTTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(99): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18957.hp1 NA18957.hp2 NA18979.hp1 NA18991.hp2 NA18995.hp2 NA19003.hp2 NA19043.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0008 a0009 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0006 others(27): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0029 a0001c0031 a0001c0032 a0001c0034 a0001c0035 a0001c0038 a0001c0042 a0001c0048 a0002c0011 a0002c0018 a0002c0033 a0002c0055 a0003c0019 a0003c0020 a0005c0037 a0005c0046 a0008c0053 a0009c0036 a0013c0039 a0014c0030 a0015c0052	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0011 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0008t0004 a0001c0012t0001 a0001c0013t0002 a0001c0013t0011 a0001c0014t0001 a0001c0015t0001 a0001c0029t0001 a0001c0031t0003 a0001c0032t0003 a0001c0034t0003 a0001c0035t0001 a0001c0038t0004 a0001c0042t0003 a0001c0048t0001 a0002c0011t0001 a0002c0018t0001 a0002c0033t0001 a0002c0055t0001 a0003c0019t0001 a0003c0020t0006 a0005c0037t0003 a0005c0046t0001 a0008c0053t0001 a0009c0036t0001 a0013c0039t0003 a0014c0030t0002 a0015c0052t0003	a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0064 others(99): Show a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0101 a0001c0001t0003g0022 a0001c0001t0003g0146 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0159 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0179 a0001c0001t0004g0143 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0163 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0174 a0001c0001t0004g0178 a0001c0001t0005g0149 a0001c0001t0006g0051 a0001c0001t0007g0029 a0001c0001t0010g0147 a0001c0001t0010g0148 a0001c0001t0012g0177 a0001c0001t0013g0059 a0001c0001t0014g0074 a0001c0002t0001g0030 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0100 a0001c0002t0002g0053 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0070 a0001c0002t0002g0075 a0001c0002t0003g0142 a0001c0002t0003g0167 a0001c0002t0003g0176 a0001c0002t0004g0152 a0001c0002t0005g0140 a0001c0002t0005g0141 a0001c0002t0005g0144 a0001c0002t0005g0164 a0001c0002t0009g0049 a0001c0002t0009g0069 a0001c0002t0011g0052 a0001c0006t0001g0001 a0001c0006t0001g0090 a0001c0006t0001g0091 a0001c0006t0002g0079 a0001c0006t0002g0180 a0001c0007t0001g0038 a0001c0008t0004g0151 a0001c0008t0004g0161 a0001c0012t0001g0044 a0001c0013t0002g0184 a0001c0013t0011g0182 a0001c0014t0001g0040 a0001c0014t0001g0042 a0001c0015t0001g0019 a0001c0015t0001g0020 a0001c0029t0001g0045 a0001c0031t0003g0160 a0001c0032t0003g0175 a0001c0034t0003g0145 a0001c0035t0001g0185 a0001c0038t0004g0155 a0001c0042t0003g0162 a0001c0048t0001g0046 a0002c0011t0001g0007 a0002c0011t0001g0008 a0002c0011t0001g0010 a0002c0018t0001g0005 a0002c0018t0001g0006 a0002c0033t0001g0072 a0002c0055t0001g0009 a0003c0019t0001g0092 a0003c0020t0006g0093 a0005c0037t0003g0173 a0005c0046t0001g0102 a0008c0053t0001g0031 a0009c0036t0001g0063 a0013c0039t0003g0153 a0014c0030t0002g0065 a0015c0052t0003g0150	102	188	0.5426	-17	c.939 others(34): Show c.939-8817_939-8801delGTTTTGTTTTGTTTTTT	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	7/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC93A_chr6_167286315_167321014	167295471	GCCTCCCT others(10): Show GCCTCCCTCGTGAACCTC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02165.hp2 HG02280.hp2 others(10): Show HG01975.hp1 HG02165.hp2 HG02280.hp2 HG03239.hp1 HG03492.hp1 NA18747.hp1 NA18948.hp1 NA18952.hp2 NA18985.hp2 NA18997.hp2 NA19058.hp2 NA19070.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0011	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0009c0012 a0011c0015	a0001c0001t0001 a0002c0002t0004 a0002c0002t0005 others(3): Show a0001c0001t0001 a0002c0002t0004 a0002c0002t0005 a0003c0003t0003 a0009c0012t0003 a0011c0015t0001	a0001c0001t0001g0045 a0001c0001t0001g0299 a0001c0001t0001g0300 others(10): Show a0001c0001t0001g0045 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0002c0002t0004g0047 a0002c0002t0004g0297 a0002c0002t0004g0302 a0002c0002t0004g0305 a0002c0002t0005g0359 a0003c0003t0003g0303 a0003c0003t0003g0306 a0009c0012t0003g0324 a0011c0015t0001g0046	13	448	0.0290	-17	c.270 others(32): Show c.270-560_270-544delCCTCCCTCGTGAACCTC	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7			chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295579	GCCTGCCT others(10): Show GCCTGCCTCGTGCTCCTC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp2 NA20129.hp2 HG03098.hp1 NA18522.hp2 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0013 a0006c0010 a0001c0013 a0006c0010	a0001c0013t0001 a0006c0010t0004 a0001c0013t0001 a0006c0010t0004	a0001c0013t0001g0333 a0001c0013t0001g0334 a0006c0010t0004g0331 a0001c0013t0001g0333 a0001c0013t0001g0334 a0006c0010t0004g0331	3	448	0.0067	-17	c.270 others(32): Show c.270-452_270-436delCCTGCCTCGTGCTCCTC	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7			chr6	TogoVar
UNKL_chr16_1358205_1419704	1399666	AAGGACTC others(10): Show AAGGACTCGCGCTCCATG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp1 HG06807.hp1 HG01884.hp1 HG03041.hp1 HG06807.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0024 a0001c0009t0043 a0001c0009t0024 a0001c0009t0043	a0001c0009t0024g0253 a0001c0009t0024g0254 a0001c0009t0043g0104 a0001c0009t0024g0253 a0001c0009t0024g0254 a0001c0009t0043g0104	3	322	0.0093	-17	c.599 others(32): Show c.599-174_599-158delCATGGAGCGCGAGTCCT	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	4/14			chr16	TogoVar
UNKL_chr16_1358205_1419704	1400417	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02055.hp2 HG02145.hp2 others(12): Show HG01070.hp2 HG02055.hp2 HG02145.hp2 HG02258.hp2 HG02486.hp2 HG02723.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0001c0013 a0005c0016	a0001c0001t0010 a0001c0001t0029 a0001c0003t0010 others(6): Show a0001c0001t0010 a0001c0001t0029 a0001c0003t0010 a0001c0003t0012 a0001c0003t0032 a0001c0008t0028 a0001c0013t0019 a0001c0013t0053 a0005c0016t0012	a0001c0001t0010g0061 a0001c0001t0029g0059 a0001c0003t0010g0055 others(12): Show a0001c0001t0010g0061 a0001c0001t0029g0059 a0001c0003t0010g0055 a0001c0003t0010g0056 a0001c0003t0010g0057 a0001c0003t0010g0058 a0001c0003t0012g0053 a0001c0003t0012g0054 a0001c0003t0012g0060 a0001c0003t0032g0062 a0001c0003t0032g0063 a0001c0008t0028g0008 a0001c0013t0019g0302 a0001c0013t0053g0014 a0005c0016t0012g0018	15	322	0.0466	-17	c.599 others(32): Show c.599-925_599-909delTTTTTTTTTTTTTTTTT	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	4/14			chr16	TogoVar
UNKL_chr16_1358205_1419704	1413243	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(133): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01243.hp1 HG01258.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0012	a0001c0001 a0001c0003 a0001c0004 others(14): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0012 a0001c0014 a0002c0002 a0002c0007 a0002c0015 a0002c0020 a0002c0030 a0004c0011 a0006c0018 a0007c0021 a0008c0022 a0009c0023 a0012c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0049 a0001c0001t0052 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0003t0002 a0001c0004t0001 a0001c0004t0036 a0001c0004t0045 a0001c0009t0043 a0001c0012t0006 a0001c0014t0030 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0011 a0002c0002t0016 a0002c0002t0031 a0002c0002t0057 a0002c0002t0062 a0002c0007t0003 a0002c0007t0020 a0002c0007t0044 a0002c0007t0051 a0002c0015t0063 a0002c0020t0001 a0002c0030t0002 a0004c0011t0002 a0006c0018t0001 a0007c0021t0047 a0008c0022t0016 a0009c0023t0050 a0012c0024t0035	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 others(132): Show a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0002g0004 a0001c0001t0002g0048 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0106 a0001c0001t0004g0079 a0001c0001t0004g0103 a0001c0001t0004g0169 a0001c0001t0005g0070 a0001c0001t0005g0098 a0001c0001t0006g0001 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0015g0088 a0001c0001t0015g0156 a0001c0001t0015g0158 a0001c0001t0016g0155 a0001c0001t0016g0157 a0001c0001t0020g0164 a0001c0001t0020g0165 a0001c0001t0034g0110 a0001c0001t0037g0152 a0001c0001t0038g0163 a0001c0001t0040g0101 a0001c0001t0049g0094 a0001c0001t0052g0162 a0001c0001t0061g0128 a0001c0001t0064g0042 a0001c0001t0065g0148 a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0004t0001g0080 a0001c0004t0001g0082 a0001c0004t0001g0123 a0001c0004t0001g0124 a0001c0004t0001g0125 a0001c0004t0001g0126 a0001c0004t0001g0136 a0001c0004t0001g0137 a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0004t0001g0145 a0001c0004t0001g0146 a0001c0004t0001g0170 a0001c0004t0036g0115 a0001c0004t0045g0166 a0001c0009t0043g0104 a0001c0012t0006g0093 a0001c0012t0006g0095 a0001c0014t0030g0012 a0001c0014t0030g0013 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0071 a0002c0002t0001g0117 a0002c0002t0001g0122 a0002c0002t0001g0130 a0002c0002t0001g0147 a0002c0002t0001g0160 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0002g0040 a0002c0002t0002g0099 a0002c0002t0003g0041 a0002c0002t0008g0029 a0002c0002t0008g0085 a0002c0002t0008g0144 a0002c0002t0011g0025 a0002c0002t0016g0153 a0002c0002t0031g0090 a0002c0002t0057g0154 a0002c0002t0062g0086 a0002c0007t0003g0107 a0002c0007t0003g0111 a0002c0007t0003g0113 a0002c0007t0020g0072 a0002c0007t0044g0109 a0002c0007t0051g0108 a0002c0015t0063g0002 a0002c0020t0001g0035 a0002c0030t0002g0100 a0004c0011t0002g0077 a0006c0018t0001g0087 a0007c0021t0047g0112 a0008c0022t0016g0151 a0009c0023t0050g0102 a0012c0024t0035g0074	136	322	0.4224	-17	c.287 others(32): Show c.287+586_287+602delTTTTTTTTTTTTTTTTT	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	2/14			chr16	TogoVar
UPB1_chr22_24490332_24533390	24509361	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02559.hp1 others(1): Show HG01884.hp2 HG01891.hp2 HG02559.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0027 a0001c0001t0044 others(1): Show a0001c0001t0002 a0001c0001t0027 a0001c0001t0044 a0001c0010t0021	a0001c0001t0002g0049 a0001c0001t0027g0180 a0001c0001t0044g0276 others(1): Show a0001c0001t0002g0049 a0001c0001t0027g0180 a0001c0001t0044g0276 a0001c0010t0021g0270	4	352	0.0114	-17	c.365 others(34): Show c.365-1369_365-1353delAAAAAAAAAAAAAAAAA	UPB1	ENSG00000100024.15	transcript	ENST00000326010.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
UPF2_chr10_11915022_12047809	11938842	GTTTTTTT others(10): Show GTTTTTTTTTTGTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	334	0.0030	-17	c.337 others(36): Show c.3379-2147_3379-2131delAAAAAACAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPK3BL2_chr7_102532919_102548696	102544127	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03688.hp2 HG03209.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0077 a0001c0001t0001g0086	2	182	0.0110	-17	c.-50 others(26): Show c.-508_-492delTTTTTTTTTTTTTTTTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		432		chr7	TogoVar
UQCC6_chr12_103945194_103962215	103957990	ATATTTAT others(10): Show ATATTTATAATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG03927.hp2 HG02602.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	462	0.0043	-17	c.-94 others(26): Show c.-949_-933delAATATATATTATAAATA	UQCC6	ENSG00000204954.10	transcript	ENST00000378090.9	protein_coding		776		chr12	TogoVar
UQCRB_chr8_96217947_96240545	96224852	CATGACCT others(10): Show CATGACCTCAGAGGCAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0094 a0001c0001t0060g0094	1	384	0.0026	-17	c.61 others(28): Show c.6186_*6202delTTTGCCTCTGAGGTCAT	UQCRB	ENSG00000156467.10	transcript	ENST00000287022.10	protein_coding	4/4	6186		chr8	TogoVar
URI1_chr19_29937239_30021612	29985119	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02896.hp2 HG03239.hp1 others(5): Show HG02071.hp2 HG02896.hp2 HG03239.hp1 HG03516.hp1 NA19012.hp2 NA19030.hp2 NA19057.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0002c0002t0001g0031 a0002c0002t0002g0261 a0002c0002t0002g0291 others(5): Show a0002c0002t0001g0031 a0002c0002t0002g0261 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0003g0015 a0002c0002t0003g0017	8	328	0.0244	-17	c.153 others(30): Show c.153-62_153-46delAAAAAAAAAAAAAAAAA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
UROS_chr10_125783586_125828258	125828179	TTGGGTCT others(10): Show TTGGGTCTGAAAGTGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-17	c.-51 others(28): Show c.-5194_-5178delTCTCACTTTCAGACCCA	UROS	ENSG00000188690.16	transcript	ENST00000368797.10	protein_coding		4922		chr10	TogoVar
USF2_chr19_35263962_35284821	35284667	CTCCTAAG others(10): Show CTCCTAAGAGTCCATTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	426	0.0024	-17	c.54 others(28): Show c.5412_*5428delTCCTAAGAGTCCATTTG	USF2	ENSG00000105698.16	transcript	ENST00000222305.8	protein_coding		4847		chr19	TogoVar
USH1C_chr11_17488900_17549416	17548418	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02895.hp2 HG01884.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0167 a0001c0003t0001g0072 a0001c0001t0001g0167 a0001c0003t0001g0072	2	360	0.0056	-17	c.-41 others(28): Show c.-4128_-4112delAAAAAAAAAAAAAAAAA	USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding		4003		chr11	TogoVar
USH2A_chr1_215617891_216428448	216053251	TAAAAAGA others(10): Show TAAAAAGAATACTGGGAA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19043.hp1 NA20129.hp2 HG03130.hp2 NA19043.hp1 NA20129.hp2	a0050 a0063 a0069 a0050 a0063 a0069	a0050c0039 a0063c0042 a0069c0024 a0050c0039 a0063c0042 a0069c0024	a0050c0039t0002 a0063c0042t0001 a0069c0024t0005 a0050c0039t0002 a0063c0042t0001 a0069c0024t0005	a0050c0039t0002g0031 a0063c0042t0001g0030 a0069c0024t0005g0039 a0050c0039t0002g0031 a0063c0042t0001g0030 a0069c0024t0005g0039	3	74	0.0405	-17	c.605 others(36): Show c.6050-4621_6050-4605delTTCCCAGTATTCTTTTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	30/71			chr1	TogoVar

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