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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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
SCRIB_chr8_143785925_143820773	143808382	CGCCAGGG others(34): Show CGCCAGGGCAGGCCTGGAGTCCAAGCATGGACTGAGACCAAT	C C	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19088.hp2 NA18951.hp2 NA19088.hp2	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0001 a0012c0024t0001	a0012c0024t0001g0058 a0012c0024t0001g0058	2	387	0.0052	-41	c.211 others(58): Show c.2115+186_2115+226delATTGGTCTCAGTCCATGCTTGGACTCCA GGCCTGCCCTGGC	SCRIB	ENSG00000180900.20	transcript	ENST00000356994.7	protein_coding	15/36			chr8	TogoVar
SDC2_chr8_96488813_96616790	96533599	TCTGAGCT others(34): Show TCTGAGCTAGACACAGAGTGCTGATTGGGGCATTTACAAACC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02647.hp2 others(3): Show HG02145.hp2 HG02257.hp1 HG02647.hp2 HG02896.hp2 HG03139.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0008	a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0002g0125 others(3): Show a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0002g0125 a0002c0002t0002g0155 a0002c0002t0008g0332 a0002c0002t0008g0333	6	334	0.0180	-41	c.60+ others(58): Show c.60+39269_60+39309delCTGAGCTAGACACAGAGTGCTGATTGGG GCATTTACAAACC	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4			chr8	TogoVar
SDHAF3_chr7_97112698_97186763	97113569	GTTTCATG others(34): Show GTTTCATGCCATTCTCCTGCCTCAGCCTCCCGTCTCTGGTAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0374 a0001c0001t0001g0374	1	402	0.0025	-41	c.-41 others(52): Show c.-4154_-4114delTTTCATGCCATTCTCCTGCCTCAGCCTCCCGTCT CTGGTAT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		4128		chr7	TogoVar
SDHAF3_chr7_97112698_97186763	97164290	AAATCAGG others(34): Show AAATCAGGCTTATGGCCTCCTGCTTATTCAACAGATTGTATG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	402	0.0025	-41	c.175 others(60): Show c.175-16721_175-16681delAATCAGGCTTATGGCCTCCTGCTTAT TCAACAGATTGTATG	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding	1/1			chr7	TogoVar
SDR16C5_chr8_56295005_56325175	56310194	AGGAAGGA others(34): Show AGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03710.hp2 HG03041.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0008 a0001c0001t0015	a0001c0001t0008g0203 a0001c0001t0015g0204 a0001c0001t0008g0203 a0001c0001t0015g0204	2	398	0.0050	-41	c.466 others(58): Show c.466-1208_466-1168delCCTCCTTCCTCCTCCTCCTCCTTCCTCC TCCTCCTCCTTCC	SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6			chr8	TogoVar
SELENOI_chr2_26341143_26400885	26370756	CCCTCCCG others(34): Show CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA	C C	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	334	0.0030	-41	c.311 others(58): Show c.311-2583_311-2543delAGAGGGGCTCCTCACCTCCCGGACGGGG CGGCTGGCCGGGC	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEMA3A_chr7_83950777_84199789	84143519	GGAGTCTA others(34): Show GGAGTCTACACGACTGTAAGATTATTGGAACATGTCCATAAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG00673.hp1 others(58): Show HG00544.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01257.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG02015.hp1 HG02071.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18944.hp2 NA18953.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18973.hp1 NA18990.hp1 NA18991.hp2 NA18999.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19062.hp2 NA19070.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0003c0010 a0004c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0001t0030 a0001c0002t0002 a0001c0003t0006 a0001c0003t0008 a0001c0003t0015 a0001c0003t0032 a0001c0004t0005 a0001c0004t0006 a0001c0004t0015 a0001c0004t0019 a0001c0004t0031 a0001c0004t0037 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0010 a0003c0010t0015 a0004c0011t0002	a0001c0001t0001g0115 a0001c0001t0001g0143 a0001c0001t0001g0144 others(58): Show a0001c0001t0001g0115 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0167 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0264 a0001c0001t0003g0050 a0001c0001t0004g0073 a0001c0001t0004g0152 a0001c0001t0004g0218 a0001c0001t0004g0224 a0001c0001t0004g0245 a0001c0001t0009g0162 a0001c0001t0009g0165 a0001c0001t0009g0213 a0001c0001t0009g0237 a0001c0001t0009g0242 a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0010g0180 a0001c0001t0011g0033 a0001c0001t0022g0225 a0001c0001t0030g0117 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0003t0006g0222 a0001c0003t0006g0246 a0001c0003t0008g0077 a0001c0003t0008g0227 a0001c0003t0015g0221 a0001c0003t0032g0166 a0001c0004t0005g0045 a0001c0004t0005g0051 a0001c0004t0005g0113 a0001c0004t0005g0114 a0001c0004t0005g0118 a0001c0004t0005g0119 a0001c0004t0005g0125 a0001c0004t0005g0149 a0001c0004t0005g0229 a0001c0004t0005g0230 a0001c0004t0005g0235 a0001c0004t0005g0276 a0001c0004t0006g0080 a0001c0004t0015g0082 a0001c0004t0019g0116 a0001c0004t0019g0131 a0001c0004t0031g0126 a0001c0004t0037g0017 a0001c0005t0001g0074 a0001c0005t0001g0140 a0001c0005t0001g0142 a0001c0005t0003g0141 a0001c0005t0004g0006 a0001c0005t0010g0135 a0001c0005t0010g0139 a0003c0010t0015g0001 a0004c0011t0002g0148	61	276	0.2210	-41	c.113 others(58): Show c.113-8609_113-8569delTTTATGGACATGTTCCAATAATCTTACA GTCGTGTAGACTC	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9191799	TGTGTGAG others(34): Show TGTGTGAGTTTAGGTGAAGGGCTCAGCCCTGCCATGACCCAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp1 HG01255.hp2 others(19): Show HG00673.hp1 HG00738.hp1 HG01255.hp2 HG01515.hp1 HG01517.hp1 HG01981.hp1 HG02040.hp2 HG02258.hp1 HG02572.hp2 HG02602.hp1 HG02735.hp1 HG02896.hp2 HG03209.hp1 HG03540.hp2 HG03579.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp2 NA18944.hp1 NA18964.hp2 NA18989.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0030 a0001c0001t0046 a0001c0001t0054 a0001c0001t0070 a0001c0002t0004 a0001c0004t0001 a0001c0004t0005 a0001c0006t0001 a0001c0010t0076	a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0042 others(19): Show a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0006g0061 a0001c0001t0011g0075 a0001c0001t0013g0036 a0001c0001t0013g0056 a0001c0001t0014g0077 a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0001t0016g0090 a0001c0001t0030g0032 a0001c0001t0046g0023 a0001c0001t0054g0094 a0001c0001t0070g0117 a0001c0002t0004g0034 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0005g0050 a0001c0006t0001g0024 a0001c0010t0076g0125	22	134	0.1642	-41	c.106 others(60): Show c.1069-1369_1069-1329delTTGGGTCATGGCAGGGCTGAGCCCTT CACCTAAACTCACAC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	10/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9191881	AGTGTGAG others(34): Show AGTGTGAGTTTAGGTGAAGGGCTCAGCCCTGCCATGACCCAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(82): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01981.hp2 HG02040.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18989.hp1 NA18991.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19068.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0023 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(75): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0039 a0001c0001t0053 a0001c0001t0056 a0001c0001t0061 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0077 a0001c0001t0078 a0001c0001t0081 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0022 a0001c0002t0040 a0001c0002t0045 a0001c0002t0047 a0001c0002t0050 a0001c0002t0060 a0001c0002t0063 a0001c0002t0082 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0019 a0001c0003t0041 a0001c0003t0051 a0001c0003t0079 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0010 a0001c0004t0049 a0001c0004t0062 a0001c0004t0069 a0001c0005t0001 a0001c0005t0002 a0001c0005t0048 a0001c0006t0001 a0001c0006t0007 a0001c0006t0014 a0001c0006t0021 a0001c0006t0043 a0001c0006t0044 a0001c0006t0058 a0001c0007t0012 a0001c0007t0016 a0001c0007t0017 a0001c0007t0025 a0001c0007t0034 a0001c0008t0001 a0001c0008t0004 a0001c0009t0001 a0001c0010t0075 a0001c0011t0037 a0001c0011t0073 a0001c0013t0036 a0001c0015t0008 a0001c0016t0038 a0001c0017t0074 a0001c0018t0002 a0001c0023t0018 a0005c0012t0029	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0038 others(82): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0076 a0001c0001t0002g0131 a0001c0001t0003g0029 a0001c0001t0008g0122 a0001c0001t0011g0028 a0001c0001t0017g0091 a0001c0001t0018g0098 a0001c0001t0019g0118 a0001c0001t0023g0017 a0001c0001t0024g0025 a0001c0001t0028g0006 a0001c0001t0032g0067 a0001c0001t0033g0057 a0001c0001t0039g0072 a0001c0001t0053g0080 a0001c0001t0056g0096 a0001c0001t0061g0116 a0001c0001t0064g0127 a0001c0001t0066g0106 a0001c0001t0067g0128 a0001c0001t0068g0129 a0001c0001t0077g0101 a0001c0001t0078g0109 a0001c0001t0081g0133 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0002g0099 a0001c0002t0004g0026 a0001c0002t0009g0002 a0001c0002t0009g0003 a0001c0002t0022g0073 a0001c0002t0040g0058 a0001c0002t0045g0040 a0001c0002t0047g0053 a0001c0002t0050g0013 a0001c0002t0060g0085 a0001c0002t0063g0100 a0001c0002t0082g0134 a0001c0003t0002g0102 a0001c0003t0003g0031 a0001c0003t0010g0048 a0001c0003t0019g0104 a0001c0003t0041g0016 a0001c0003t0051g0079 a0001c0003t0079g0126 a0001c0004t0001g0020 a0001c0004t0001g0030 a0001c0004t0002g0120 a0001c0004t0002g0121 a0001c0004t0005g0044 a0001c0004t0010g0049 a0001c0004t0049g0011 a0001c0004t0062g0114 a0001c0004t0069g0103 a0001c0005t0001g0054 a0001c0005t0002g0115 a0001c0005t0048g0022 a0001c0006t0001g0078 a0001c0006t0007g0088 a0001c0006t0014g0060 a0001c0006t0021g0001 a0001c0006t0043g0007 a0001c0006t0044g0009 a0001c0006t0058g0083 a0001c0007t0012g0064 a0001c0007t0016g0095 a0001c0007t0017g0084 a0001c0007t0025g0062 a0001c0007t0034g0033 a0001c0008t0001g0046 a0001c0008t0004g0066 a0001c0009t0001g0045 a0001c0010t0075g0107 a0001c0011t0037g0065 a0001c0011t0073g0119 a0001c0013t0036g0008 a0001c0015t0008g0112 a0001c0016t0038g0037 a0001c0017t0074g0105 a0001c0018t0002g0130 a0001c0023t0018g0110 a0005c0012t0029g0055	85	134	0.6343	-41	c.106 others(60): Show c.1069-1451_1069-1411delATGGGTCATGGCAGGGCTGAGCCCTT CACCTAAACTCACAC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	10/22			chr5	TogoVar
SEMA7A_chr15_74404289_74438958	74413075	AGTCAGAT others(34): Show AGTCAGATGATTGCCTGCCTAGGATGTTTCCTCTACACATCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG01069.hp1 others(26): Show HG00280.hp1 HG00438.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01192.hp1 HG02040.hp2 HG02735.hp1 HG03927.hp1 NA18939.hp1 NA18945.hp2 NA18948.hp1 NA18953.hp2 NA18970.hp2 NA18979.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19011.hp1 NA19068.hp1 NA19070.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0026 a0001c0002t0001g0126 a0001c0002t0001g0127 others(10): Show a0001c0002t0001g0026 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0003t0001g0008 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0027 a0001c0003t0001g0125 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133	29	404	0.0718	-41	c.129 others(60): Show c.1295-1104_1295-1064delGGATGTGTAGAGGAAACATCCTAGGC AGGCAATCATCTGAC	SEMA7A	ENSG00000138623.10	transcript	ENST00000261918.9	protein_coding	10/13			chr15	TogoVar
SENP2_chr3_185581295_185638551	185631375	GGCCATGT others(34): Show GGCCATGTGGTGGGTGATGACTGAAGCGGGAGCAGGTTGTAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0155 a0001c0001t0135g0155	1	360	0.0028	-41	c.15 others(52): Show c.1532_*1572delGCCATGTGGTGGGTGATGACTGAAGCGGGAGCAG GTTGTAC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1532		chr3	TogoVar
SFRP1_chr8_41256962_41314473	41297409	TAACCAGA others(34): Show TAACCAGAGAATTAACTAGCATATTCCATTCTTCTTCCTAAA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	384	0.0026	-41	c.622 others(58): Show c.622+6011_622+6051delTTTAGGAAGAAGAATGGAATATGCTAGT TAATTCTCTGGTT	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2			chr8	TogoVar
SFSWAP_chr12_131706090_131804738	131795979	AGGGGAGG others(34): Show AGGGGAGGGGAGGGGAGAGGGGGAGGGGAGGGGAGGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01106.hp1 HG00642.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0221 a0001c0001t0005g0222 a0001c0001t0001g0221 a0001c0001t0005g0222	2	318	0.0063	-41	c.253 others(60): Show c.2535-1182_2535-1142delAGGGGGAGGGGAGGGGAGGGGAGAGG GGGAGGGGAGGGGAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SGTA_chr19_2749715_2788273	2772764	AATGGGTG others(34): Show AATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG01081.hp2 others(32): Show HG00280.hp2 HG00438.hp1 HG01081.hp2 HG01243.hp1 HG01891.hp1 HG02071.hp2 HG02165.hp1 HG02257.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03486.hp1 HG03540.hp2 HG03688.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18954.hp2 NA18961.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18995.hp2 NA19030.hp2 NA19043.hp2 NA19075.hp2 NA19080.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(4): Show a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0011	a0001c0002t0002 a0001c0002t0019 a0001c0003t0003 others(6): Show a0001c0002t0002 a0001c0002t0019 a0001c0003t0003 a0001c0003t0004 a0001c0005t0002 a0001c0008t0009 a0001c0009t0010 a0001c0010t0002 a0001c0011t0002	a0001c0002t0002g0022 a0001c0002t0002g0047 a0001c0002t0002g0075 others(29): Show a0001c0002t0002g0022 a0001c0002t0002g0047 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0168 a0001c0002t0019g0164 a0001c0003t0003g0014 a0001c0003t0003g0051 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0064 a0001c0003t0004g0016 a0001c0003t0004g0063 a0001c0003t0004g0170 a0001c0005t0002g0034 a0001c0005t0002g0067 a0001c0005t0002g0068 a0001c0008t0009g0090 a0001c0009t0010g0179 a0001c0009t0010g0180 a0001c0010t0002g0066 a0001c0011t0002g0076	35	396	0.0884	-41	c.-23 others(58): Show c.-23-3714_-23-3674delCTCTGCCCTCGGTGTCCCTGCCGTGTGG CCGCGTCACCCAT	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2772846	GGTGGGTG others(34): Show GGTGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0181 a0001c0003t0018g0181	1	396	0.0025	-41	c.-23 others(58): Show c.-23-3796_-23-3756delTTCTGCCCTCGGTGTCCCTGCCCTGTGG CCGCGTCACCCAC	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2772940	GGCCACAC others(34): Show GGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG02071.hp2 others(7): Show HG00280.hp2 HG01081.hp2 HG02071.hp2 NA18612.hp1 NA18954.hp2 NA18979.hp1 NA18983.hp2 NA18995.hp2 NA19066.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0002 a0001c0002t0019 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0019 a0001c0008t0009	a0001c0001t0001g0240 a0001c0002t0002g0022 a0001c0002t0002g0047 others(6): Show a0001c0001t0001g0240 a0001c0002t0002g0022 a0001c0002t0002g0047 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0088 a0001c0002t0002g0168 a0001c0002t0019g0164 a0001c0008t0009g0090	10	396	0.0253	-41	c.-23 others(58): Show c.-23-3890_-23-3850delTGCGTCACCCACCTCTGCCCTCGGTGTC CCTGCCGTGTGGC	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773121	ACCGAGGG others(34): Show ACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	396	0.0025	-41	c.-23 others(58): Show c.-23-4071_-23-4031delAGTCCCTGCCGTGTGGCCGCGTCACCCA CCTCTGCCCTCGG	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773234	CGGCAGGG others(34): Show CGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp2 HG02071.hp2 others(8): Show HG00280.hp2 HG00673.hp2 HG02071.hp2 NA18612.hp1 NA18953.hp2 NA18954.hp2 NA18961.hp2 NA18979.hp1 NA18983.hp2 NA18995.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0019 a0001c0002t0002 a0001c0002t0019	a0001c0002t0002g0022 a0001c0002t0002g0047 a0001c0002t0002g0083 others(7): Show a0001c0002t0002g0022 a0001c0002t0002g0047 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0114 a0001c0002t0002g0168 a0001c0002t0019g0164	11	396	0.0278	-41	c.-23 others(58): Show c.-23-4184_-23-4144delCTGTGGCCGCGTCACCCATCTCTGCCCT CGGTGTCCCTGCC	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773367	ACCGAGGG others(34): Show ACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0334 a0001c0003t0005g0334	1	396	0.0025	-41	c.-23 others(58): Show c.-23-4317_-23-4277delAGTCCCTGCCGTGTGGCCGCGTCACCCA CCTCTGCCCTCGG	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773585	GTGGGTGA others(34): Show GTGGGTGACACGGCCACACGGCAGGGACTCCGAGGGCAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	396	0.0025	-41	c.-23 others(58): Show c.-23-4535_-23-4495delTCTCTGCCCTCGGAGTCCCTGCCGTGTG GCCGTGTCACCCA	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773941	TCCGAGGG others(34): Show TCCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(122): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00673.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19075.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0011	a0001c0002t0002 a0001c0002t0003 a0001c0002t0019 others(7): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0019 a0001c0003t0003 a0001c0003t0020 a0001c0004t0003 a0001c0005t0002 a0001c0008t0009 a0001c0010t0002 a0001c0011t0002	a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 others(100): Show a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0053 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0176 a0001c0002t0003g0036 a0001c0002t0003g0094 a0001c0002t0019g0164 a0001c0003t0003g0139 a0001c0003t0003g0153 a0001c0003t0020g0128 a0001c0004t0003g0131 a0001c0005t0002g0034 a0001c0005t0002g0067 a0001c0005t0002g0068 a0001c0005t0002g0069 a0001c0005t0002g0070 a0001c0005t0002g0071 a0001c0005t0002g0189 a0001c0005t0002g0336 a0001c0005t0002g0337 a0001c0005t0002g0338 a0001c0008t0009g0090 a0001c0008t0009g0123 a0001c0010t0002g0066 a0001c0011t0002g0076	125	396	0.3157	-41	c.-23 others(58): Show c.-23-4891_-23-4851delTGTCCCTGCCCTGTGGCCGCGTCACCCA TCTCTGCCCTCGG	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SH3D19_chr4_151115281_151330605	151214414	AGAGGCGC others(34): Show AGAGGCGCCCCTCACCTCCCGGACGAGGCTGCTGGCCGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(196): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0008 a0010 a0012 a0014	a0001c0001 a0001c0002 a0001c0005 others(14): Show a0001c0001 a0001c0002 a0001c0005 a0001c0020 a0001c0025 a0002c0003 a0003c0004 a0004c0011 a0004c0012 a0004c0017 a0004c0018 a0004c0024 a0006c0007 a0008c0009 a0010c0013 a0012c0021 a0014c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(22): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0005t0001 a0001c0020t0005 a0001c0025t0001 a0002c0003t0003 a0003c0004t0001 a0004c0011t0001 a0004c0012t0001 a0004c0012t0009 a0004c0017t0003 a0004c0018t0001 a0004c0024t0001 a0006c0007t0001 a0008c0009t0001 a0010c0013t0001 a0010c0013t0011 a0012c0021t0001 a0014c0015t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0023 others(195): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0251 a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0004g0018 a0001c0001t0004g0094 a0001c0001t0004g0199 a0001c0001t0007g0209 a0001c0001t0012g0114 a0001c0001t0014g0051 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0025 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0059 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0118 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 a0001c0002t0001g0185 a0001c0002t0001g0211 a0001c0002t0001g0217 a0001c0002t0001g0225 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0234 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0269 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0010g0068 a0001c0005t0001g0001 a0001c0005t0001g0167 a0001c0005t0001g0168 a0001c0005t0001g0170 a0001c0005t0001g0181 a0001c0005t0001g0190 a0001c0005t0001g0214 a0001c0005t0001g0232 a0001c0020t0005g0141 a0001c0025t0001g0183 a0002c0003t0003g0039 a0002c0003t0003g0122 a0002c0003t0003g0123 a0002c0003t0003g0124 a0002c0003t0003g0125 a0002c0003t0003g0126 a0002c0003t0003g0127 a0002c0003t0003g0128 a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0143 a0002c0003t0003g0144 a0003c0004t0001g0070 a0003c0004t0001g0254 a0003c0004t0001g0255 a0003c0004t0001g0256 a0003c0004t0001g0257 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0265 a0003c0004t0001g0267 a0003c0004t0001g0268 a0004c0011t0001g0064 a0004c0011t0001g0110 a0004c0012t0001g0117 a0004c0012t0009g0067 a0004c0017t0003g0146 a0004c0018t0001g0103 a0004c0024t0001g0252 a0006c0007t0001g0100 a0006c0007t0001g0111 a0006c0007t0001g0220 a0006c0007t0001g0222 a0006c0007t0001g0223 a0006c0007t0001g0236 a0008c0009t0001g0087 a0008c0009t0001g0088 a0008c0009t0001g0089 a0008c0009t0001g0090 a0010c0013t0001g0107 a0010c0013t0011g0096 a0012c0021t0001g0004 a0014c0015t0001g0148	199	282	0.7057	-41	c.152 others(60): Show c.152+11592_152+11632delCGCCCGGCCAGCAGCCTCGTCCGGGA GGTGAGGGGCGCCTC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	2/19			chr4	TogoVar
SH3GL2_chr9_17574066_17802124	17623004	TCCTTTCC others(34): Show TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02717.hp1 others(4): Show HG01243.hp1 HG02280.hp1 HG02717.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020	a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0254 others(4): Show a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0254 a0001c0001t0004g0148 a0001c0001t0010g0218 a0001c0001t0011g0257 a0001c0001t0020g0211	7	260	0.0269	-41	c.45+ others(58): Show c.45+43722_45+43762delTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTCCCCTT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439252	AAAAAAAA others(34): Show AAAAAAAAAAAACAAAAACAAAAACAAAACAAAAAAAAAACC	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02451.hp2 HG02723.hp1 others(1): Show HG01943.hp2 HG02451.hp2 HG02723.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0019 a0001c0001t0080 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0080 a0002c0004t0052	a0001c0001t0001g0060 a0001c0001t0019g0190 a0001c0001t0080g0218 others(1): Show a0001c0001t0001g0060 a0001c0001t0019g0190 a0001c0001t0080g0218 a0002c0004t0052g0045	4	280	0.0143	-41	c.75+ others(58): Show c.75+14985_75+15025delGGTTTTTTTTTTGTTTTGTTTTTGTTTT TGTTTTTTTTTTT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439254	AAAAAAAA others(34): Show AAAAAAAAAACAAAAACAAAAACAAAACAAAAAAAAAACCCC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0027 a0001c0001t0006g0027	1	280	0.0036	-41	c.75+ others(58): Show c.75+14983_75+15023delGGGGTTTTTTTTTTGTTTTGTTTTTGTT TTTGTTTTTTTTT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12			chr5	TogoVar
SHANK1_chr19_50654255_50724802	50707921	CTTTTCTT others(34): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0012 a0001c0003t0025g0012	1	316	0.0032	-41	c.107 others(60): Show c.1077+3409_1078-3408delAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHTN1_chr10_116876477_117010187	116963035	GTTTTTTT others(34): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02615.hp2 others(3): Show HG01109.hp1 HG01884.hp2 HG02615.hp2 HG03098.hp1 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0034 a0001c0001t0004 a0001c0001t0034	a0001c0001t0004g0160 a0001c0001t0004g0162 a0001c0001t0004g0164 others(3): Show a0001c0001t0004g0160 a0001c0001t0004g0162 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0034g0161 a0001c0001t0034g0163	6	292	0.0206	-41	c.173 others(58): Show c.173-2846_173-2806delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	3/16			chr10	TogoVar
SIGIRR_chr11_400716_419999	411837	GGCGGGGG others(34): Show GGCGGGGGGGGGGCTCAGCTCTGACCATGTCTGGATACAGTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	242	0.0041	-41	c.-15 others(60): Show c.-153-1851_-153-1811delGACTGTATCCAGACATGGTCAGAGCT GAGCCCCCCCCCCGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412277	ACAGTCGG others(34): Show ACAGTCGGGGGGGGGGTGCCCAACTCTGACCATGTCTGGATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01071.hp2 others(2): Show HG00099.hp2 HG01069.hp2 HG01071.hp2 HG01993.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0096 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098	5	242	0.0207	-41	c.-15 others(60): Show c.-153-2291_-153-2251delCATCCAGACATGGTCAGAGTTGGGCA CCCCCCCCCCGACTG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412562	CGGGGGGG others(34): Show CGGGGGGGGGTGCCCAGCTCTGAACATGTCTGGATACAGTCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01993.hp2 others(1): Show HG00099.hp2 HG01069.hp2 HG01993.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0097 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0097 a0001c0001t0001g0098	4	242	0.0165	-41	c.-15 others(60): Show c.-154+2220_-154+2260delCGACTGTATCCAGACATGTTCAGAGC TGGGCACCCCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412642	CGGGGAGG others(34): Show CGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATACAGTCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01258.hp1 HG01358.hp1 others(31): Show HG00099.hp1 HG01258.hp1 HG01358.hp1 HG01517.hp1 HG01975.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02300.hp2 HG02451.hp2 HG02630.hp2 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03654.hp1 HG03704.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18951.hp2 NA18969.hp2 NA18970.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA19009.hp1 NA19043.hp1 NA19066.hp1 NA19079.hp1 NA19085.hp1 NA19088.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0136 a0001c0001t0001g0139 others(31): Show a0001c0001t0001g0006 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0237 a0003c0007t0001g0199	34	242	0.1405	-41	c.-15 others(60): Show c.-154+2140_-154+2180delCGACTGTATCCAGACATGGTCAGAGC TGAGCACCCCTCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIM1_chr6_100380009_100469921	100412534	CTAAGAAA others(34): Show CTAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	320	0.0031	-41	c.116 others(60): Show c.1167+8215_1167+8255delCTTTCTTTCTTTCTTTCTTTTCTTTC TTTCTTTCTTTCTTA	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIMC1_chr5_176233424_176350989	176305315	TGGGGGGT others(34): Show TGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01952.hp2 HG02258.hp1 others(18): Show HG01175.hp2 HG01952.hp2 HG02258.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp2 HG02738.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1 NA18522.hp2 NA18945.hp2 NA18949.hp2 NA19011.hp2 NA19030.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0003c0016	a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 a0003c0016t0001	a0001c0001t0001g0028 a0001c0001t0001g0115 a0001c0001t0001g0116 others(18): Show a0001c0001t0001g0028 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0219 a0001c0001t0001g0244 a0001c0001t0001g0258 a0002c0002t0002g0312 a0003c0004t0001g0001 a0003c0004t0001g0353 a0003c0004t0001g0354 a0003c0016t0001g0348	21	360	0.0583	-41	c.173 others(60): Show c.1735-8369_1735-8329delTCAGCCCCGACGCCCGGCCAGCCGTG CCATCCGGGGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SKI_chr1_2223319_2315213	2280717	CGGCGATC others(34): Show CGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0092 a0001c0001t0010g0092	1	330	0.0030	-41	c.970 others(60): Show c.970-22256_970-22216delATCTTCAGAGAGAGAGATGCCCGAGA AGACAGGCGGTGGCG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281678	GAGAGAGG others(34): Show GAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTC	G G	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	330	0.0030	-41	c.970 others(60): Show c.970-21293_970-21253delGACGCCCGAGAGGACAGGCGGTGGTG GAGATCTTCAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281807	GAGAGAGG others(34): Show GAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTC	G G	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	330	0.0030	-41	c.970 others(60): Show c.970-21164_970-21124delGACGCCCGAGAGGACAGGCGGTGGTG GAGATCTTCAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281936	GAGAGAGG others(34): Show GAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	330	0.0030	-41	c.970 others(60): Show c.970-21035_970-20995delGACGCCTGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282152	GAGAGAGG others(34): Show GAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	330	0.0030	-41	c.970 others(60): Show c.970-20819_970-20779delGACGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(141): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0131 others(84): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0131 a0001c0001t0001g0239 a0001c0001t0002g0107 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0042 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0130 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0007g0018 a0001c0002t0008g0089 a0001c0002t0008g0094 a0001c0002t0013g0092	144	376	0.3830	-41	c.177 others(58): Show c.177-3566_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1072135	GAGCCCCC others(34): Show GAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0009 a0006c0019t0009	a0006c0019t0009g0013 a0006c0019t0009g0013	1	118	0.0085	-41	c.224 others(60): Show c.2241+1457_2241+1497delGCATAAGTGTGATGCCGTGTGCTGGG GGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072232	CCCCCAGT others(34): Show CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0005 a0001c0003t0003g0005	1	118	0.0085	-41	c.224 others(60): Show c.2241+1360_2241+1400delCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072556	GCCCCAGT others(34): Show GCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	118	0.0085	-41	c.224 others(60): Show c.2241+1036_2241+1076delGCTGCATAAGTGTGATGCCGTGTGCT GGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072687	CATCACAC others(34): Show CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18954.hp2 HG02698.hp2 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0013 a0002c0004 a0001c0013 a0002c0004	a0001c0013t0003 a0002c0004t0022 a0001c0013t0003 a0002c0004t0022	a0001c0013t0003g0046 a0002c0004t0022g0087 a0001c0013t0003g0046 a0002c0004t0022g0087	2	118	0.0170	-41	c.224 others(58): Show c.2241+905_2241+945delACCGTGTGCTGGGGGCTCACTGGGGGCT GCATAAGTGTGAT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072781	CATCACAC others(34): Show CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03491.hp2 HG03492.hp2 others(1): Show HG02683.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0051 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0056	4	118	0.0339	-41	c.224 others(58): Show c.2241+811_2241+851delACCGTGTGCTGGGGGCTCACTGGGGGCT GCATAAGTGTGAT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC15A5_chr12_16183485_16282685	16205539	TATATATG others(34): Show TATATATGTATATATATATATTCCATAAGAAGGGAAAGGTGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01515.hp1 HG03831.hp1 HG00140.hp1 HG01515.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0134 a0002c0002t0005g0135 a0002c0002t0005g0190 a0002c0002t0005g0134 a0002c0002t0005g0135 a0002c0002t0005g0190	3	324	0.0093	-41	c.148 others(62): Show c.1484-11127_1484-11087delGCACCTTTCCCTTCTTATGGAATA TATATATATACATATAT	SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	7/8			chr12	TogoVar
SLC15A5_chr12_16183485_16282685	16205557	TATTCCAT others(34): Show TATTCCATAAGAAGGGAAAGGTGCATATATATATACATATAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	324	0.0031	-41	c.148 others(62): Show c.1484-11145_1484-11105delGTATATGTATATATATATGCACCT TTCCCTTCTTATGGAAT	SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	7/8			chr12	TogoVar
SLC16A13_chr17_7031015_7045117	7043207	CCGGTTGC others(34): Show CCGGTTGCCCTTTCTCAGGTTGTCGGGTAATCAGGTGGGTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	-41	c.32 others(52): Show c.3246_*3286delCGGTTGCCCTTTCTCAGGTTGTCGGGTAATCAGG TGGGTCT	SLC16A13	ENSG00000174327.7	transcript	ENST00000308027.7	protein_coding		3091		chr17	TogoVar
SLC22A23_chr6_3263973_3462050	3439035	AGACCGGG others(34): Show AGACCGGGGTTTCTCAAACTTGCCGTATTTGGGGCCGGATCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02717.hp1 HG02922.hp2 others(2): Show HG00639.hp2 HG02717.hp1 HG02922.hp2 HG02976.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 others(2): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0011t0046	a0001c0001t0005g0031 a0001c0001t0007g0087 a0001c0001t0010g0141 others(2): Show a0001c0001t0005g0031 a0001c0001t0007g0087 a0001c0001t0010g0141 a0001c0001t0015g0145 a0001c0011t0046g0142	5	222	0.0225	-41	c.654 others(60): Show c.654+16830_654+16870delAGATCCGGCCCCAAATACGGCAAGTT TGAGAAACCCCGGTC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	1/9			chr6	TogoVar
SLC26A4_chr7_107655828_107722809	107680277	AATATAAT others(34): Show AATATAATCTTATCTTATTATATAATATAATCTTATATTATT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18946.hp1 NA18970.hp2 others(1): Show NA18941.hp1 NA18946.hp1 NA18970.hp2 NA19080.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0014 a0001c0001 a0015c0014	a0001c0001t0001 a0015c0014t0001 a0001c0001t0001 a0015c0014t0001	a0001c0001t0001g0032 a0001c0001t0001g0052 a0001c0001t0001g0053 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0052 a0001c0001t0001g0053 a0015c0014t0001g0048	4	366	0.0109	-41	c.766 others(58): Show c.766-2899_766-2859delATAATCTTATATTATTATATAATCTTAT CTTATTATATAAT	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC28A1_chr15_84879662_84950798	84907700	TATAAATC others(34): Show TATAAATCATCAAGGACATAGGTTAAATATGTTAATCTACTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0057 a0009c0057	a0009c0057t0001 a0009c0057t0001	a0009c0057t0001g0393 a0009c0057t0001g0393	1	396	0.0025	-41	c.718 others(57): Show c.718-1016_718-976delTAAATCATCAAGGACATAGGTTAAATATG TTAATCTACTCA	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar

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