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 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
SPATA5_chr4_122918078_123324433	123323086	CATATATA others(21): Show CATATATATATACATATATATACACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02630.hp1 others(3): Show HG01109.hp1 HG01884.hp2 HG02630.hp1 HG02717.hp1 HG02818.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0043 a0001c0001t0001 a0001c0001t0004 a0001c0001t0043	a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 others(3): Show a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0004g0170 a0001c0001t0043g0172	6	262	0.0229	-28	c.90 others(39): Show c.9023_*9050delATATATATATACATATATATACACACAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding		3654		chr4	TogoVar
SPATA5_chr4_122918078_123324433	123323112	CATATATA others(21): Show CATATATATATACATATATATACACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0109 a0001c0001t0041g0109	1	262	0.0038	-28	c.90 others(39): Show c.9049_*9076delATATATATATACATATATATACACACAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding		3680		chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4656478	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02109.hp2 NA19043.hp1 HG01192.hp1 HG02109.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0015 a0001c0001t0019 a0001c0006t0048 a0001c0001t0015 a0001c0001t0019 a0001c0006t0048	a0001c0001t0015g0138 a0001c0001t0019g0151 a0001c0006t0048g0091 a0001c0001t0015g0138 a0001c0001t0019g0151 a0001c0006t0048g0091	3	408	0.0074	-28	c.178 others(43): Show c.178-417_178-390delCCCTTCCTTCCTTCCTTCCTTCCTTCCT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	2/11			chr9	TogoVar
SPATA6_chr1_48290373_48477204	48460717	AAAATATA others(21): Show AAAATATAAAGTCAATATATACCGGTAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(106): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02895.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18940.hp2 NA18941.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18999.hp2 NA19003.hp1 NA19010.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0006 a0002c0002t0001 a0002c0002t0005 others(9): Show a0001c0001t0006 a0002c0002t0001 a0002c0002t0005 a0002c0002t0019 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0005c0006t0001	a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0145 others(106): Show a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0166 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0234 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0084 a0002c0002t0001g0087 a0002c0002t0005g0003 a0002c0002t0005g0004 a0002c0002t0005g0015 a0002c0002t0005g0021 a0002c0002t0005g0022 a0002c0002t0005g0047 a0002c0002t0005g0048 a0002c0002t0005g0049 a0002c0002t0005g0058 a0002c0002t0005g0059 a0002c0002t0005g0064 a0002c0002t0005g0066 a0002c0002t0005g0067 a0002c0002t0005g0068 a0002c0002t0005g0069 a0002c0002t0005g0070 a0002c0002t0005g0071 a0002c0002t0005g0072 a0002c0002t0005g0073 a0002c0002t0005g0074 a0002c0002t0005g0077 a0002c0002t0005g0078 a0002c0002t0005g0079 a0002c0002t0005g0081 a0002c0002t0005g0082 a0002c0002t0005g0083 a0002c0002t0005g0085 a0002c0002t0005g0088 a0002c0002t0005g0090 a0002c0002t0005g0091 a0002c0002t0005g0092 a0002c0002t0005g0093 a0002c0002t0005g0094 a0002c0002t0005g0095 a0002c0002t0019g0076 a0002c0002t0019g0080 a0002c0002t0027g0062 a0002c0002t0028g0086 a0002c0002t0029g0061 a0002c0002t0030g0065 a0002c0002t0031g0075 a0002c0002t0032g0060 a0002c0002t0033g0063 a0005c0006t0001g0032	109	322	0.3385	-28	c.52- others(43): Show c.52-7614_52-7587delCTTACCGGTATATATTGACTTTATATTT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	1/12			chr1	TogoVar
SPATS1_chr6_44337650_44385179	44363652	TTCCCTCC others(21): Show TTCCCTCCTTCCCTCCTTCCTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(187): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0038 a0001c0001t0040 a0001c0001t0046 a0001c0001t0047 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0003t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(148): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0078 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0126 a0001c0001t0003g0026 a0001c0001t0003g0115 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0059 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0136 a0001c0001t0005g0006 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0028 a0001c0001t0005g0033 a0001c0001t0005g0048 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0005g0080 a0001c0001t0005g0090 a0001c0001t0005g0098 a0001c0001t0005g0102 a0001c0001t0005g0105 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0130 a0001c0001t0005g0132 a0001c0001t0005g0135 a0001c0001t0005g0138 a0001c0001t0005g0153 a0001c0001t0005g0155 a0001c0001t0006g0004 a0001c0001t0006g0027 a0001c0001t0006g0055 a0001c0001t0006g0103 a0001c0001t0007g0010 a0001c0001t0007g0029 a0001c0001t0007g0091 a0001c0001t0007g0095 a0001c0001t0007g0124 a0001c0001t0007g0133 a0001c0001t0007g0147 a0001c0001t0009g0022 a0001c0001t0009g0052 a0001c0001t0009g0060 a0001c0001t0015g0019 a0001c0001t0015g0054 a0001c0001t0015g0099 a0001c0001t0016g0029 a0001c0001t0016g0069 a0001c0001t0016g0127 a0001c0001t0019g0049 a0001c0001t0019g0051 a0001c0001t0038g0019 a0001c0001t0040g0089 a0001c0001t0046g0231 a0001c0001t0047g0128 a0002c0002t0001g0041 a0002c0002t0001g0161 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0247 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0286 a0002c0002t0003g0248 a0002c0002t0005g0185 a0002c0002t0006g0225 a0002c0002t0006g0235 a0002c0003t0002g0291	190	392	0.4847	-28	c.574 others(45): Show c.574+1664_574+1691delCTCCTTCCCTCCTTCCTTCCTTCCCTCC	SPATS1	ENSG00000249481.7	transcript	ENST00000674044.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPC25_chr2_168865891_168895430	168889034	CATATATA others(21): Show CATATATATATACACATATATATACATAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02896.hp1 HG03195.hp1 others(2): Show HG01261.hp2 HG02896.hp1 HG03195.hp1 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0027 a0001c0001t0002g0178 a0001c0001t0002g0179	5	360	0.0139	-28	c.199 others(43): Show c.199+164_199+191delATATGTATATATATGTGTATATATATAT	SPC25	ENSG00000152253.9	transcript	ENST00000282074.7	protein_coding	3/6			chr2	TogoVar
SPC25_chr2_168865891_168895430	168889064	TATATACA others(21): Show TATATACACATATATATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	360	0.0028	-28	c.199 others(43): Show c.199+134_199+161delGTATATATATGTATATATATGTGTATAT	SPC25	ENSG00000152253.9	transcript	ENST00000282074.7	protein_coding	3/6			chr2	TogoVar
SPCS2_chr11_74944266_74984033	74955851	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19030.hp1 HG03209.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0288 a0001c0001t0002g0290	2	378	0.0053	-28	c.114 others(45): Show c.114+6461_114+6488delATATATATATATATATATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPDYA_chr2_28805834_28855610	28819843	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG03139.hp2 others(1): Show HG02451.hp2 HG02647.hp1 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013	4	338	0.0118	-28	c.294 others(43): Show c.294+739_294+766delAAAAAATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819845	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	338	0.0030	-28	c.294 others(43): Show c.294+741_294+768delAAAATATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819849	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	338	0.0030	-28	c.294 others(43): Show c.294+770_294+797delATATATATATATATATATATATATATAT	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28846722	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	338	0.0030	-28	c.851 others(45): Show c.851-3104_851-3077delCACACACACACACACACACACACACACA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73156132	ACACACAC others(21): Show ACACACACTCTCTCTCTCTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 NA18951.hp2 HG01433.hp1 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0100 a0001c0002t0001g0095 a0001c0002t0001g0100	2	216	0.0093	-28	c.-14 others(39): Show c.-1477_-1450delAGAGAGAGAGAGAGAGAGAGAGTGTGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		702		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156139	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTGTCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0023 a0003c0006t0023	a0003c0006t0023g0141 a0003c0006t0023g0141	1	216	0.0046	-28	c.-14 others(39): Show c.-1484_-1457delCAGACAGAGAGAGAGAGAGAGAGAGAGA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		709		chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67274831	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp2 others(100): Show HG00099.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01934.hp1 HG01943.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp1 HG02818.hp2 HG03239.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0003 a0014 a0003 a0014	a0003c0003 a0014c0016 a0003c0003 a0014c0016	a0003c0003t0002 a0003c0003t0011 a0003c0003t0016 others(2): Show a0003c0003t0002 a0003c0003t0011 a0003c0003t0016 a0003c0003t0019 a0014c0016t0002	a0003c0003t0002g0002 a0003c0003t0002g0006 a0003c0003t0002g0016 others(44): Show a0003c0003t0002g0002 a0003c0003t0002g0006 a0003c0003t0002g0016 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0036 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0166 a0003c0003t0002g0167 a0003c0003t0002g0168 a0003c0003t0002g0169 a0003c0003t0002g0170 a0003c0003t0002g0171 a0003c0003t0002g0172 a0003c0003t0002g0173 a0003c0003t0002g0174 a0003c0003t0002g0175 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0183 a0003c0003t0002g0184 a0003c0003t0002g0185 a0003c0003t0002g0186 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0192 a0003c0003t0002g0193 a0003c0003t0002g0194 a0003c0003t0002g0195 a0003c0003t0002g0197 a0003c0003t0002g0198 a0003c0003t0011g0016 a0003c0003t0011g0164 a0003c0003t0011g0196 a0003c0003t0016g0187 a0003c0003t0019g0006 a0014c0016t0002g0020	103	460	0.2239	-28	c.-26 others(39): Show c.-2653_-2626delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding		2109		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24270240	TATACATA others(21): Show TATACATATATATATGTATATATATACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0020 a0006c0006t0020	a0006c0006t0020g0069 a0006c0006t0020g0069	1	326	0.0031	-28	c.-88 others(37): Show c.-884_-857delATACATATATATATGTATATATATACAC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		590		chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24270286	TATACGTA others(21): Show TATACGTATATATATATGTATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01884.hp2 HG02818.hp2 HG01346.hp1 HG01884.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0082 a0001c0001t0009g0084 a0001c0001t0009g0193 a0001c0001t0009g0082 a0001c0001t0009g0084 a0001c0001t0009g0193	3	326	0.0092	-28	c.-83 others(37): Show c.-838_-811delATACGTATATATATATGTATATATATAC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		544		chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24270303	GTATATAT others(21): Show GTATATATATACATATATATATACGTATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0282 a0001c0001t0013g0282	1	326	0.0031	-28	c.-82 others(37): Show c.-821_-794delTATATATATACATATATATATACGTATA	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		527		chr22	TogoVar
SPECC1_chr17_20004359_20324026	20019207	CATTCATT others(21): Show CATTCATTTATTTATTTATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01099.hp2 others(28): Show HG00140.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01258.hp1 HG01261.hp1 HG01515.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02027.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02523.hp2 HG03654.hp2 HG04184.hp1 HG04204.hp1 NA18612.hp2 NA18942.hp1 NA18968.hp2 NA18998.hp2 NA19043.hp1 NA19066.hp1 NA19080.hp2 NA20805.hp1	a0003 a0003	a0003c0004 a0003c0007 a0003c0012 others(1): Show a0003c0004 a0003c0007 a0003c0012 a0003c0013	a0003c0004t0003 a0003c0004t0011 a0003c0004t0016 others(10): Show a0003c0004t0003 a0003c0004t0011 a0003c0004t0016 a0003c0004t0034 a0003c0004t0109 a0003c0004t0110 a0003c0004t0113 a0003c0007t0003 a0003c0007t0011 a0003c0007t0016 a0003c0012t0108 a0003c0012t0111 a0003c0013t0112	a0003c0004t0003g0008 a0003c0004t0003g0072 a0003c0004t0003g0079 others(28): Show a0003c0004t0003g0008 a0003c0004t0003g0072 a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0084 a0003c0004t0003g0086 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0093 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0220 a0003c0004t0011g0077 a0003c0004t0011g0092 a0003c0004t0016g0219 a0003c0004t0034g0082 a0003c0004t0034g0094 a0003c0004t0109g0085 a0003c0004t0110g0083 a0003c0004t0113g0087 a0003c0007t0003g0074 a0003c0007t0003g0075 a0003c0007t0003g0076 a0003c0007t0003g0088 a0003c0007t0003g0091 a0003c0007t0011g0099 a0003c0007t0016g0073 a0003c0007t0016g0081 a0003c0012t0108g0100 a0003c0012t0111g0098 a0003c0013t0112g0097	31	250	0.1240	-28	c.-22 others(45): Show c.-22+9787_-22+9814delCATTTATTTATTTATTTATTTATTTATT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20051113	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG06807.hp1 HG02922.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0098 a0001c0001t0031 a0001c0001t0098	a0001c0001t0031g0180 a0001c0001t0098g0179 a0001c0001t0031g0180 a0001c0001t0098g0179	2	250	0.0080	-28	c.-22 others(47): Show c.-22+41697_-22+41724delTTTCTTTCTTTCTTTCTTTCCTTCTT TC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20051121	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCCTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0053	a0001c0003t0053g0189 a0001c0003t0053g0189	1	250	0.0040	-28	c.-22 others(47): Show c.-22+41705_-22+41732delTTTCTTTCTTTCCTTCTTTCCTTCTT TC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEM1_chr17_7415324_7426632	7424547	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 NA19080.hp1 HG02970.hp2 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	398	0.0050	-28	c.29 others(39): Show c.2943_*2970delTTCCTTCCTTCCTTCCTTCCTTCCTTCC	SPEM1	ENSG00000181323.8	transcript	ENST00000323675.4	protein_coding		2916		chr17	TogoVar
SPEM2_chr17_7420616_7432568	7424547	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 NA19080.hp1 HG02970.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	364	0.0055	-28	c.-11 others(39): Show c.-1141_-1114delTTCCTTCCTTCCTTCCTTCCTTCCTTCC	SPEM2	ENSG00000184560.8	transcript	ENST00000333870.8	protein_coding		1068		chr17	TogoVar
SPEM3_chr17_7423857_7437820	7424547	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA18993.hp1 NA19080.hp2 HG02970.hp2 NA18993.hp1 NA19080.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0002c0009 a0009c0010 a0002c0002 a0002c0009 a0009c0010	a0002c0002t0001 a0002c0009t0001 a0009c0010t0001 a0002c0002t0001 a0002c0009t0001 a0009c0010t0001	a0002c0002t0001g0001 a0002c0009t0001g0001 a0009c0010t0001g0001 a0002c0002t0001g0001 a0002c0009t0001g0001 a0009c0010t0001g0001	3	354	0.0085	-28	c.-43 others(39): Show c.-4355_-4328delTTCCTTCCTTCCTTCCTTCCTTCCTTCC	SPEM3	ENSG00000283439.4	transcript	ENST00000636696.4	protein_coding		4309		chr17	TogoVar
SPG7_chr16_89503403_89562766	89526901	CCGAAGTC others(21): Show CCGAAGTCTCAGCCCCCGACGTAGGATGG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp2 NA20129.hp2 HG03041.hp1 HG03453.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246	3	358	0.0084	-28	c.758 others(43): Show c.758+505_758+532delCGACGTAGGATGGCGAAGTCTCAGCCCC	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIDR_chr8_47255938_47741306	47331965	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTCTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03225.hp2 HG03453.hp2 others(1): Show HG02602.hp2 HG03225.hp2 HG03453.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(1): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004	4	216	0.0185	-28	c.525 others(47): Show c.525+37954_525+37981delTTTCTCTTTTTTTTTTTTTTTTTTTT TT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47588026	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18983.hp1 NA18998.hp2 others(1): Show HG02056.hp2 NA18983.hp1 NA18998.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0112 a0001c0001t0002g0155	4	216	0.0185	-28	c.109 others(47): Show c.1098-7751_1098-7724delTATATATATATATATATATATATATA TA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINK5_chr5_148058980_148142382	148123512	AATATATG others(21): Show AATATATGTGTATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(157): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0006 a0007 others(8): Show a0001 a0006 a0007 a0008 a0012 a0017 a0023 a0024 a0026 a0028 a0030	a0001c0001 a0001c0024 a0001c0039 others(12): Show a0001c0001 a0001c0024 a0001c0039 a0001c0040 a0006c0012 a0007c0008 a0007c0011 a0008c0028 a0012c0015 a0017c0023 a0023c0035 a0024c0036 a0026c0038 a0028c0025 a0030c0027	a0001c0001t0001 a0001c0024t0001 a0001c0039t0001 others(14): Show a0001c0001t0001 a0001c0024t0001 a0001c0039t0001 a0001c0040t0001 a0006c0012t0007 a0007c0008t0005 a0007c0008t0006 a0007c0011t0001 a0008c0028t0001 a0012c0015t0001 a0012c0015t0010 a0017c0023t0001 a0023c0035t0001 a0024c0036t0001 a0026c0038t0001 a0028c0025t0001 a0030c0027t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0023 others(143): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0342 a0001c0024t0001g0029 a0001c0039t0001g0241 a0001c0040t0001g0275 a0006c0012t0007g0004 a0007c0008t0005g0138 a0007c0008t0005g0139 a0007c0008t0005g0140 a0007c0008t0005g0141 a0007c0008t0005g0146 a0007c0008t0006g0070 a0007c0008t0006g0071 a0007c0008t0006g0072 a0007c0008t0006g0080 a0007c0011t0001g0113 a0007c0011t0001g0117 a0007c0011t0001g0123 a0007c0011t0001g0133 a0008c0028t0001g0096 a0012c0015t0001g0243 a0012c0015t0001g0282 a0012c0015t0010g0189 a0017c0023t0001g0283 a0017c0023t0001g0300 a0023c0035t0001g0278 a0024c0036t0001g0296 a0026c0038t0001g0190 a0028c0025t0001g0053 a0030c0027t0001g0052	160	384	0.4167	-28	c.253 others(45): Show c.2539-314_2539-287delGTGTATATATATATATATATATATATAT	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPOCK3_chr4_166728384_167239494	167078308	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02965.hp1 others(4): Show HG02258.hp2 HG02615.hp1 HG02965.hp1 HG02970.hp1 HG03139.hp1 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0008t0001 a0001c0008t0002	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0003g0042 others(4): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0003g0042 a0001c0001t0003g0120 a0001c0001t0004g0105 a0001c0008t0001g0139 a0001c0008t0002g0041	7	144	0.0486	-28	c.190 others(47): Show c.190-15799_190-15772delCACACACACACACACACACACACACA CA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14113568	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp2 HG02559.hp2 others(6): Show HG01243.hp2 HG02280.hp2 HG02559.hp2 HG02886.hp2 HG02965.hp2 HG03130.hp2 HG03579.hp1 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0032 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0003g0202 a0001c0001t0004g0200 a0001c0002t0003g0201 a0001c0003t0001g0086 a0001c0003t0001g0115	9	224	0.0402	-28	c.677 others(47): Show c.677-21827_677-21800delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14161183	TTATATAT others(21): Show TTATATATCTATATATATTTATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18984.hp2 HG02165.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0051 a0001c0001t0002g0135 a0001c0001t0001g0051 a0001c0001t0002g0135	2	224	0.0089	-28	c.825 others(47): Show c.825+25649_825+25676delATCTATATATATTTATATATTTATAT AT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPOPL_chr2_138496770_138578547	138567372	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02132.hp1 others(15): Show HG00544.hp2 HG02040.hp2 HG02132.hp1 NA18945.hp1 NA18951.hp1 NA18956.hp2 NA18964.hp2 NA18966.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18988.hp2 NA18994.hp1 NA18998.hp1 NA19002.hp2 NA19056.hp1 NA19060.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0051 a0001c0001t0003g0151 others(11): Show a0001c0001t0003g0001 a0001c0001t0003g0051 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0162 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177	18	372	0.0484	-28	c.103 others(47): Show c.1035-1529_1035-1502delGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SPOPL	ENSG00000144228.9	transcript	ENST00000280098.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPRED2_chr2_65305851_65437599	65342188	ATATACGT others(21): Show ATATACGTATATTATGTATGTATATTTTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01891.hp2 HG02055.hp1 others(32): Show HG01167.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0001t0023 a0001c0002t0019	a0001c0001t0002g0035 a0001c0001t0002g0078 a0001c0001t0002g0080 others(32): Show a0001c0001t0002g0035 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0003g0203 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0253 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0265 a0001c0001t0006g0269 a0001c0001t0007g0251 a0001c0001t0021g0268 a0001c0001t0023g0270 a0001c0002t0019g0229	35	276	0.1268	-28	c.204 others(45): Show c.204+2503_204+2530delCAAAATATACATACATAATATACGTATA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRR5_chr1_152942206_152954255	152944616	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18971.hp1 NA18973.hp2 others(4): Show HG00438.hp1 NA18971.hp1 NA18973.hp2 NA18990.hp1 NA19003.hp2 NA19005.hp2 NA19078.hp2	a0000 a0001 a0006 a0000 a0001 a0006	a0000c0013 a0001c0001 a0006c0006 a0000c0013 a0001c0001 a0006c0006	a0000c0013t0006 a0001c0001t0001 a0006c0006t0006 a0000c0013t0006 a0001c0001t0001 a0006c0006t0006	a0000c0013t0006g0011 a0001c0001t0001g0002 a0006c0006t0006g0010 others(1): Show a0000c0013t0006g0011 a0001c0001t0001g0002 a0006c0006t0006g0010 a0006c0006t0006g0011	7	436	0.0161	-28	c.-26 others(39): Show c.-2650_-2623delGTGTGTGTGTGTGTGTGTGTGTGTGTGC	SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding		2589		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359054	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(67): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00738.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01517.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02922.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18945.hp2 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18986.hp2 NA18988.hp1 NA18999.hp2 NA19001.hp2 NA19005.hp1 NA19011.hp2 NA19030.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19070.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0010	a0001c0001 a0002c0002 a0007c0012 others(2): Show a0001c0001 a0002c0002 a0007c0012 a0008c0011 a0010c0008	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0002c0002t0002 a0002c0002t0015 a0007c0012t0002 a0008c0011t0002 a0010c0008t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0010g0071 a0001c0001t0010g0085 a0001c0001t0012g0028 a0001c0001t0013g0056 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0023 a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0051 a0002c0002t0002g0054 a0002c0002t0002g0057 a0002c0002t0002g0067 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0079 a0002c0002t0002g0132 a0002c0002t0015g0052 a0007c0012t0002g0005 a0008c0011t0002g0063 a0010c0008t0002g0036	70	352	0.1989	-28	c.56 others(39): Show c.5694_*5721delTATATATATATATATATATATATATATA	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4032		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03516.hp1 NA18906.hp2 others(1): Show HG01884.hp2 HG03516.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0065 a0001c0001t0073 others(1): Show a0001c0001t0063 a0001c0001t0065 a0001c0001t0073 a0001c0001t0113	a0001c0001t0063g0057 a0001c0001t0065g0056 a0001c0001t0073g0014 others(1): Show a0001c0001t0063g0057 a0001c0001t0065g0056 a0001c0001t0073g0014 a0001c0001t0113g0019	4	231	0.0173	-28	c.-28 others(49): Show c.-282+25695_-282+25722delATATATATATATATATATATATAT ATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB1_chr1_9287894_9374532	9298379	TGAATGAG others(21): Show TGAATGAGTGAATGAATGAATGAGTGAAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01167.hp1 HG01175.hp1 others(29): Show HG01070.hp2 HG01167.hp1 HG01175.hp1 HG01255.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02004.hp2 HG02055.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03710.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0028 a0001c0001t0034 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0016 a0001c0003t0003 a0001c0003t0013 a0001c0003t0016	a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0156 others(29): Show a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0003g0112 a0001c0001t0003g0153 a0001c0001t0005g0106 a0001c0001t0005g0140 a0001c0001t0005g0146 a0001c0001t0006g0116 a0001c0001t0006g0135 a0001c0001t0006g0158 a0001c0001t0011g0149 a0001c0001t0015g0152 a0001c0001t0015g0161 a0001c0001t0017g0136 a0001c0001t0017g0148 a0001c0001t0017g0206 a0001c0001t0021g0150 a0001c0001t0024g0147 a0001c0001t0028g0191 a0001c0001t0034g0139 a0001c0002t0005g0242 a0001c0002t0007g0105 a0001c0002t0011g0137 a0001c0002t0016g0141 a0001c0003t0003g0104 a0001c0003t0003g0154 a0001c0003t0013g0111 a0001c0003t0016g0145	32	370	0.0865	-28	c.-15 others(47): Show c.-150+5315_-150+5342delGTGAATGAATGAATGAGTGAACGAAT GA	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB1_chr1_9287894_9374532	9357089	GTGGATGG others(21): Show GTGGATGGATGGATGGATGGATGAGTGGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp1 others(94): Show HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00673.hp2 HG00738.hp2 HG01070.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03209.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03831.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19063.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19082.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0024 a0001c0001t0041 a0001c0001t0049 a0001c0001t0051 a0003c0005t0006	a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0060 others(94): Show a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0060 a0001c0001t0001g0171 a0001c0001t0002g0243 a0001c0001t0002g0255 a0001c0001t0002g0284 a0001c0001t0002g0303 a0001c0001t0002g0308 a0001c0001t0002g0359 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0003g0023 a0001c0001t0003g0059 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0134 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0004g0212 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0244 a0001c0001t0004g0249 a0001c0001t0004g0251 a0001c0001t0004g0253 a0001c0001t0004g0259 a0001c0001t0004g0264 a0001c0001t0004g0269 a0001c0001t0004g0278 a0001c0001t0004g0282 a0001c0001t0004g0288 a0001c0001t0004g0290 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0306 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0322 a0001c0001t0004g0329 a0001c0001t0004g0338 a0001c0001t0004g0340 a0001c0001t0004g0342 a0001c0001t0004g0351 a0001c0001t0004g0357 a0001c0001t0005g0101 a0001c0001t0005g0106 a0001c0001t0005g0108 a0001c0001t0005g0146 a0001c0001t0005g0218 a0001c0001t0005g0227 a0001c0001t0005g0232 a0001c0001t0006g0053 a0001c0001t0006g0056 a0001c0001t0006g0064 a0001c0001t0006g0066 a0001c0001t0006g0076 a0001c0001t0006g0081 a0001c0001t0006g0090 a0001c0001t0006g0095 a0001c0001t0006g0100 a0001c0001t0006g0102 a0001c0001t0006g0113 a0001c0001t0006g0116 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0127 a0001c0001t0006g0128 a0001c0001t0006g0135 a0001c0001t0006g0158 a0001c0001t0006g0162 a0001c0001t0006g0167 a0001c0001t0008g0307 a0001c0001t0008g0355 a0001c0001t0012g0017 a0001c0001t0015g0024 a0001c0001t0015g0034 a0001c0001t0015g0152 a0001c0001t0015g0161 a0001c0001t0017g0007 a0001c0001t0017g0136 a0001c0001t0017g0148 a0001c0001t0017g0206 a0001c0001t0024g0119 a0001c0001t0041g0314 a0001c0001t0049g0202 a0001c0001t0051g0067 a0003c0005t0006g0086	97	370	0.2622	-28	c.694 others(43): Show c.694+519_694+546delGATGGATGAGTGGATGGATGGATGGATG	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPTBN5_chr15_41843146_41899053	41862062	ATGAGAGG others(21): Show ATGAGAGGAAGGGGAGGGCAGGGCGGAGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG01192.hp2 others(14): Show HG00099.hp1 HG00544.hp1 HG01192.hp2 HG01361.hp2 HG01496.hp1 HG01934.hp2 HG02080.hp1 HG02148.hp2 HG02572.hp2 HG02717.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp2 NA18522.hp1 NA19000.hp1 NA19080.hp2 NA19091.hp2	a0013 a0015 a0024 others(8): Show a0013 a0015 a0024 a0034 a0035 a0039 a0075 a0076 a0077 a0117 a0134	a0013c0015 a0015c0014 a0024c0123 others(9): Show a0013c0015 a0015c0014 a0024c0123 a0034c0136 a0034c0137 a0035c0040 a0039c0087 a0075c0135 a0076c0133 a0077c0134 a0117c0052 a0134c0157	a0013c0015t0002 a0015c0014t0002 a0024c0123t0001 others(9): Show a0013c0015t0002 a0015c0014t0002 a0024c0123t0001 a0034c0136t0002 a0034c0137t0002 a0035c0040t0002 a0039c0087t0001 a0075c0135t0001 a0076c0133t0002 a0077c0134t0002 a0117c0052t0011 a0134c0157t0001	a0013c0015t0002g0010 a0013c0015t0002g0227 a0013c0015t0002g0228 others(12): Show a0013c0015t0002g0010 a0013c0015t0002g0227 a0013c0015t0002g0228 a0015c0014t0002g0237 a0024c0123t0001g0224 a0034c0136t0002g0232 a0034c0137t0002g0226 a0035c0040t0002g0230 a0035c0040t0002g0231 a0039c0087t0001g0264 a0075c0135t0001g0229 a0076c0133t0002g0225 a0077c0134t0002g0233 a0117c0052t0011g0341 a0134c0157t0001g0239	17	396	0.0429	-28	c.754 others(43): Show c.7548+40_7548+67delGCTCCGCCCTGCCCTCCCCTTCCTCTCA	SPTBN5	ENSG00000137877.10	transcript	ENST00000320955.8	protein_coding	44/67			chr15	TogoVar
SPTLC3_chr20_13003972_13174103	13067044	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0239 a0001c0001t0007g0239	1	292	0.0034	-28	c.304 others(45): Show c.304-5181_304-5154delATATATATATATATATATATATATATAT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13100957	CCAGGAAG others(21): Show CCAGGAAGCACCAGTAGGTGAGCAGGGCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(80): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01975.hp1 HG01978.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02602.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG03017.hp2 HG03041.hp1 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG04115.hp2 NA18747.hp2 NA18944.hp2 NA18946.hp2 NA18951.hp2 NA18954.hp1 NA18959.hp2 NA18965.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18977.hp2 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19063.hp2 NA19086.hp2 NA19089.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0002c0002 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(38): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0033 a0001c0001t0044 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0061 a0001c0001t0063 a0001c0003t0041 a0001c0004t0001 a0001c0004t0014 a0001c0004t0017 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0009 a0001c0005t0010 a0001c0005t0025 a0001c0012t0023 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0002c0002t0021 a0002c0002t0036 a0003c0007t0006	a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0095 others(80): Show a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0003g0112 a0001c0001t0003g0126 a0001c0001t0003g0179 a0001c0001t0004g0225 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0247 a0001c0001t0004g0266 a0001c0001t0004g0273 a0001c0001t0008g0005 a0001c0001t0008g0013 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0009g0148 a0001c0001t0013g0058 a0001c0001t0013g0059 a0001c0001t0013g0060 a0001c0001t0014g0074 a0001c0001t0014g0116 a0001c0001t0014g0120 a0001c0001t0014g0146 a0001c0001t0016g0136 a0001c0001t0019g0119 a0001c0001t0020g0138 a0001c0001t0021g0064 a0001c0001t0033g0045 a0001c0001t0044g0073 a0001c0001t0050g0101 a0001c0001t0051g0075 a0001c0001t0053g0250 a0001c0001t0055g0287 a0001c0001t0057g0281 a0001c0001t0061g0274 a0001c0001t0063g0232 a0001c0003t0041g0107 a0001c0004t0001g0169 a0001c0004t0014g0137 a0001c0004t0017g0105 a0001c0005t0001g0089 a0001c0005t0003g0085 a0001c0005t0004g0244 a0001c0005t0009g0079 a0001c0005t0010g0231 a0001c0005t0025g0088 a0001c0005t0025g0097 a0001c0012t0023g0165 a0002c0002t0001g0190 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0003g0196 a0002c0002t0003g0200 a0002c0002t0004g0254 a0002c0002t0004g0255 a0002c0002t0007g0246 a0002c0002t0007g0260 a0002c0002t0007g0278 a0002c0002t0008g0017 a0002c0002t0008g0018 a0002c0002t0008g0044 a0002c0002t0013g0041 a0002c0002t0021g0065 a0002c0002t0036g0061 a0003c0007t0006g0010	83	292	0.2843	-28	c.826 others(45): Show c.826+7401_826+7428delGCAGGGCACAGGAAGCACCAGTAGGTGA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRBD1_chr2_45383680_45616267	45414718	ATACACAC others(21): Show ATACACACACACAGTGTGTATATAGTATG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02132.hp2 HG00544.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0029 a0001c0001t0001g0045	2	358	0.0056	-28	c.233 others(47): Show c.2334-1453_2334-1426delCATACTATATACACACTGTGTGTGTG TA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45467161	ATTGATGC others(21): Show ATTGATGCTGCTAGTCTACTGACTGTATT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	358	0.0028	-28	c.204 others(47): Show c.2049+9804_2049+9831delAATACAGTCAGTAGACTAGCAGCATC AA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRC_chr20_37341140_37411050	37373428	TGTATATA others(21): Show TGTATATACGCATATATACGCATATATGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00609.hp1 others(84): Show HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00642.hp1 HG01106.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18962.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18985.hp1 NA18994.hp1 NA19007.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19080.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0036 a0001c0001t0037 a0001c0001t0043 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0003t0010 a0001c0003t0023 a0001c0004t0049 a0001c0007t0041	a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0050 others(83): Show a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0171 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0256 a0001c0001t0001g0264 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0044 a0001c0001t0002g0080 a0001c0001t0002g0145 a0001c0001t0002g0167 a0001c0001t0002g0178 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0275 a0001c0001t0004g0005 a0001c0001t0004g0103 a0001c0001t0004g0157 a0001c0001t0004g0187 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0204 a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0005g0073 a0001c0001t0005g0165 a0001c0001t0006g0008 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0236 a0001c0001t0006g0241 a0001c0001t0009g0053 a0001c0001t0009g0194 a0001c0001t0009g0195 a0001c0001t0009g0267 a0001c0001t0011g0159 a0001c0001t0011g0248 a0001c0001t0011g0249 a0001c0001t0011g0250 a0001c0001t0012g0203 a0001c0001t0012g0205 a0001c0001t0012g0206 a0001c0001t0012g0207 a0001c0001t0013g0051 a0001c0001t0013g0072 a0001c0001t0013g0226 a0001c0001t0014g0138 a0001c0001t0014g0139 a0001c0001t0015g0017 a0001c0001t0015g0192 a0001c0001t0016g0057 a0001c0001t0016g0058 a0001c0001t0020g0043 a0001c0001t0020g0227 a0001c0001t0022g0272 a0001c0001t0024g0271 a0001c0001t0029g0176 a0001c0001t0036g0251 a0001c0001t0037g0166 a0001c0001t0043g0235 a0001c0001t0047g0238 a0001c0001t0048g0168 a0001c0001t0050g0191 a0001c0001t0051g0056 a0001c0003t0010g0222 a0001c0003t0023g0265 a0001c0004t0049g0263 a0001c0007t0041g0011	87	282	0.3085	-28	c.-17 others(47): Show c.-173+8152_-173+8179delGTATATACGCATATATACGCATATAT GC	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13			chr20	TogoVar
SRF_chr6_43166269_43186506	43182522	AGCTCACC others(21): Show AGCTCACCCCCACACCTCAGTTTATTGTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	-28	c.33 others(39): Show c.3333_*3360delGCTCACCCCCACACCTCAGTTTATTGTT	SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding		1017		chr6	TogoVar
SRGAP1_chr12_63839700_64167217	63868046	ATATATAT others(21): Show ATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0154 a0002c0004t0154	a0002c0004t0154g0076 a0002c0004t0154g0076	1	170	0.0059	-28	c.67+ others(45): Show c.67+23165_67+23192delATATATATATTTTTTTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63868048	ATATATAT others(21): Show ATATATATATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18979.hp2 NA19084.hp2 HG02056.hp1 NA18979.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0106 a0001c0001t0118 a0001c0002t0063 a0001c0001t0106 a0001c0001t0118 a0001c0002t0063	a0001c0001t0106g0067 a0001c0001t0118g0078 a0001c0002t0063g0060 a0001c0001t0106g0067 a0001c0001t0118g0078 a0001c0002t0063g0060	3	170	0.0177	-28	c.67+ others(45): Show c.67+23167_67+23194delATATATATTTTTTTTTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63948885	TATATATA others(21): Show TATATATATATTCCATATATATATTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00639.hp2 others(54): Show HG00408.hp1 HG00558.hp1 HG00639.hp2 HG01069.hp1 HG01069.hp2 HG01109.hp1 HG01109.hp2 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01978.hp2 HG02055.hp1 HG02056.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18967.hp2 NA18971.hp2 NA18988.hp1 NA19057.hp2 NA19060.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0013 a0002c0004 a0003c0005 a0004c0012	a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 others(51): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0001t0068 a0001c0001t0074 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0086 a0001c0001t0094 a0001c0001t0097 a0001c0001t0102 a0001c0001t0107 a0001c0001t0110 a0001c0001t0112 a0001c0001t0113 a0001c0001t0116 a0001c0001t0117 a0001c0001t0119 a0001c0001t0120 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0140 a0001c0001t0146 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0014 a0001c0002t0016 a0001c0002t0024 a0001c0002t0027 a0001c0002t0028 a0001c0002t0038 a0001c0002t0039 a0001c0002t0046 a0001c0002t0050 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0062 a0001c0002t0064 a0001c0002t0132 a0001c0003t0001 a0001c0003t0100 a0001c0006t0085 a0001c0006t0105 a0001c0013t0044 a0002c0004t0091 a0002c0004t0153 a0003c0005t0139 a0004c0012t0017	a0001c0001t0006g0112 a0001c0001t0006g0154 a0001c0001t0007g0039 others(54): Show a0001c0001t0006g0112 a0001c0001t0006g0154 a0001c0001t0007g0039 a0001c0001t0021g0150 a0001c0001t0068g0075 a0001c0001t0074g0134 a0001c0001t0077g0080 a0001c0001t0078g0128 a0001c0001t0079g0057 a0001c0001t0081g0164 a0001c0001t0086g0102 a0001c0001t0094g0052 a0001c0001t0097g0022 a0001c0001t0102g0166 a0001c0001t0107g0054 a0001c0001t0110g0030 a0001c0001t0112g0138 a0001c0001t0113g0152 a0001c0001t0116g0058 a0001c0001t0117g0097 a0001c0001t0119g0106 a0001c0001t0120g0044 a0001c0001t0126g0050 a0001c0001t0127g0042 a0001c0001t0128g0031 a0001c0001t0140g0092 a0001c0001t0146g0013 a0001c0002t0002g0008 a0001c0002t0003g0124 a0001c0002t0004g0056 a0001c0002t0004g0111 a0001c0002t0014g0129 a0001c0002t0016g0089 a0001c0002t0024g0043 a0001c0002t0027g0046 a0001c0002t0028g0026 a0001c0002t0038g0091 a0001c0002t0039g0027 a0001c0002t0046g0048 a0001c0002t0050g0088 a0001c0002t0053g0093 a0001c0002t0054g0084 a0001c0002t0055g0045 a0001c0002t0056g0061 a0001c0002t0062g0041 a0001c0002t0064g0049 a0001c0002t0132g0140 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0100g0014 a0001c0006t0085g0015 a0001c0006t0105g0151 a0001c0013t0044g0155 a0002c0004t0091g0032 a0002c0004t0153g0114 a0003c0005t0139g0170 a0004c0012t0017g0113	57	170	0.3353	-28	c.68- others(45): Show c.68-35051_68-35024delTCCATATATATATTTTCCATATATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63983797	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp2 HG02896.hp1 others(2): Show HG01109.hp2 HG02630.hp2 HG02896.hp1 HG03579.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0081 a0001c0001t0115 a0001c0001t0148 others(2): Show a0001c0001t0081 a0001c0001t0115 a0001c0001t0148 a0001c0001t0149 a0001c0006t0105	a0001c0001t0081g0164 a0001c0001t0115g0142 a0001c0001t0148g0116 others(2): Show a0001c0001t0081g0164 a0001c0001t0115g0142 a0001c0001t0148g0116 a0001c0001t0149g0156 a0001c0006t0105g0151	5	170	0.0294	-28	c.68- others(40): Show c.68-119_68-92delATATATATATATATATATATATATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	145044650	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	56	0.0179	-28	c.67+ others(45): Show c.67+48157_67+48184delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar

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