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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RORB_chr9_74492335_74698177	74549539	GGGAGGGA others(29): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG01192.hp2 others(12): Show HG01070.hp2 HG01081.hp2 HG01192.hp2 HG01261.hp2 HG02273.hp2 HG02723.hp1 HG02896.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 NA18968.hp2 NA19064.hp2 NA19087.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0002t0005	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 others(12): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0001t0001g0160 a0001c0001t0006g0180 a0001c0001t0008g0130 a0001c0001t0013g0035 a0001c0001t0013g0109 a0001c0001t0015g0110 a0001c0001t0015g0142 a0001c0001t0016g0098 a0001c0001t0017g0096 a0001c0002t0005g0076	15	226	0.0664	-36	c.7+5 others(51): Show c.7+51560_7+51595delGGGAGGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGA		RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
RPA2_chr1_27886524_27919575	27904665	TCAGTCTT others(29): Show TCAGTCTTGCTCTGTTGCCCAGAGCAACAGAGCAGTG	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	364	0.0028	-36	c.333 others(53): Show c.333+2227_333+2262delCACTGCTCTGTTGCTCTGGGCAACAGAG CAAGACTG		RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding	4/8						chr1	TogoVar
RPAP2_chr1_92294059_92407056	92309544	CACATACA others(29): Show CACATACACATACACATACACATACACATATACATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02976.hp2 others(1): Show HG02055.hp1 HG02109.hp1 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0052 a0001c0004t0067 a0001c0004t0017 a0001c0004t0052 a0001c0004t0067	a0001c0004t0017g0164 a0001c0004t0017g0165 a0001c0004t0052g0166 others(1): Show a0001c0004t0017g0164 a0001c0004t0017g0165 a0001c0004t0052g0166 a0001c0004t0067g0171	4	192	0.0208	-36	c.488 others(53): Show c.488+2298_488+2333delTACATATACATACACATACACATACACA TACACATA		RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPH3AL_chr17_207389_357807	243596	ACCCTTCC others(29): Show ACCCTTCCTCTATTGATTACCTTCCTCTATTGATTAC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	133	0.0075	-36	c.613 others(53): Show c.613+3479_613+3514delGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPL26_chr17_8372516_8388193	8384050	CGTGTGTG others(29): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG03139.hp2 others(1): Show HG02886.hp1 HG02965.hp2 HG03139.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	4	422	0.0095	-36	c.-93 others(45): Show c.-935_-900delACACACACACACACACACACACACACACACACACAC		RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding					858		chr17	TogoVar
RPS6KA5_chr14_90842861_91065641	91044356	AAAGAAAG others(29): Show AAAGAAAGAGAAAGAAAGAAGGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp2 others(3): Show HG00280.hp2 HG00438.hp2 HG00544.hp2 HG04204.hp1 NA19057.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0090 a0001c0001t0129 others(3): Show a0001c0001t0012 a0001c0001t0090 a0001c0001t0129 a0001c0001t0151 a0001c0001t0162 a0001c0001t0195	a0001c0001t0012g0181 a0001c0001t0090g0145 a0001c0001t0129g0155 others(3): Show a0001c0001t0012g0181 a0001c0001t0090g0145 a0001c0001t0129g0155 a0001c0001t0151g0166 a0001c0001t0162g0158 a0001c0001t0195g0182	6	306	0.0196	-36	c.103 others(55): Show c.103+15940_103+15975delCTTCTTTCTTTCTTTCCTTCTTTCTT TCTCTTTCTT		RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16						chr14	TogoVar
RPS6KC1_chr1_213046241_213279774	213119425	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01167.hp1 HG02109.hp2 others(7): Show HG00558.hp2 HG01167.hp1 HG02109.hp2 HG02145.hp2 HG02647.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03471.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0007c0009	a0001c0001t0001 a0001c0001t0016 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0016 a0002c0002t0001 a0003c0003t0001 a0003c0003t0010 a0007c0009t0018	a0001c0001t0001g0097 a0001c0001t0001g0241 a0001c0001t0001g0243 others(7): Show a0001c0001t0001g0097 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0016g0101 a0002c0002t0001g0252 a0003c0003t0001g0324 a0003c0003t0001g0325 a0003c0003t0010g0323 a0003c0003t0010g0329 a0007c0009t0018g0280	10	330	0.0303	-36	c.472 others(53): Show c.472+2054_472+2089delATATATATATATATATATATATATATAT ATATATAT		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPTN_chr1_152148595_152164228	152156575	CTCTCAGG others(29): Show CTCTCAGGCTGACTGTGGTGGGAATCTCTGTCTTGTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18940.hp2 NA18940.hp2	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0001 a0019c0026t0001	a0019c0026t0001g0057 a0019c0026t0001g0057	1	422	0.0024	-36	c.488 others(43): Show c.488_523delAACAAGACAGAGATTCCCACCACAGTCAGCCTGAGA	p.Lys others(13): Show p.Lys163_Glu174del	RPTN	ENSG00000215853.3	transcript	ENST00000316073.3	protein_coding	3/3	588/3569	488/2355	163/784			chr1	TogoVar
RPTN_chr1_152148595_152164228	152156589	GTGGTGGG others(29): Show GTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(133): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp2 NA18949.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19084.hp2 NA19090.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0006 others(3): Show a0002 a0003 a0006 a0010 a0011 a0020	a0002c0002 a0002c0007 a0002c0017 others(6): Show a0002c0002 a0002c0007 a0002c0017 a0003c0003 a0006c0006 a0006c0015 a0010c0009 a0011c0010 a0020c0016	a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 others(8): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 a0002c0007t0001 a0002c0017t0001 a0003c0003t0001 a0006c0006t0001 a0006c0015t0001 a0010c0009t0001 a0011c0010t0001 a0020c0016t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0011 others(20): Show a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0029 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0043 a0002c0002t0001g0076 a0002c0002t0004g0015 a0002c0002t0004g0023 a0002c0002t0004g0037 a0002c0002t0009g0047 a0002c0007t0001g0013 a0002c0017t0001g0048 a0003c0003t0001g0006 a0003c0003t0001g0033 a0003c0003t0001g0068 a0006c0006t0001g0019 a0006c0006t0001g0046 a0006c0015t0001g0060 a0010c0009t0001g0025 a0011c0010t0001g0026 a0020c0016t0001g0061	136	422	0.3223	-36	c.474 others(43): Show c.474_509delTGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCA	p.Gly others(13): Show p.Gly159_His170del	RPTN	ENSG00000215853.3	transcript	ENST00000316073.3	protein_coding	3/3	574/3569	474/2355	158/784			chr1	TogoVar
RPTOR_chr17_80539838_80971368	80561239	TTATATAT others(29): Show TTATATATATATGTATATATATATGTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(48): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01175.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01978.hp2 HG02129.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02970.hp1 HG03130.hp1 HG03239.hp2 HG03453.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG06807.hp1 NA18747.hp2 NA18944.hp2 NA18980.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19057.hp2 NA19070.hp1 NA19082.hp2 NA19088.hp2 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0023 a0001c0024 a0001c0026 a0001c0027 a0001c0028 a0001c0032 a0001c0033 a0001c0035 a0001c0045 a0001c0054 a0001c0061 a0001c0064 a0001c0068 a0001c0071 a0001c0073 a0001c0081 a0001c0087 a0004c0082	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(41): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0019 a0001c0001t0092 a0001c0002t0002 a0001c0002t0010 a0001c0003t0010 a0001c0003t0013 a0001c0004t0033 a0001c0006t0013 a0001c0007t0090 a0001c0010t0009 a0001c0010t0032 a0001c0010t0094 a0001c0013t0013 a0001c0013t0089 a0001c0014t0002 a0001c0014t0034 a0001c0017t0005 a0001c0018t0009 a0001c0019t0005 a0001c0020t0093 a0001c0023t0002 a0001c0023t0009 a0001c0024t0002 a0001c0026t0010 a0001c0027t0096 a0001c0028t0019 a0001c0032t0033 a0001c0032t0097 a0001c0033t0098 a0001c0035t0010 a0001c0035t0095 a0001c0045t0091 a0001c0054t0034 a0001c0061t0009 a0001c0064t0006 a0001c0068t0025 a0001c0071t0088 a0001c0073t0002 a0001c0081t0002 a0001c0087t0002 a0004c0082t0010	a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 others(48): Show a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 a0001c0001t0005g0046 a0001c0001t0009g0030 a0001c0001t0019g0050 a0001c0001t0019g0057 a0001c0001t0092g0029 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0010g0064 a0001c0003t0010g0069 a0001c0003t0013g0043 a0001c0004t0033g0023 a0001c0006t0013g0068 a0001c0007t0090g0025 a0001c0010t0009g0058 a0001c0010t0032g0059 a0001c0010t0094g0054 a0001c0013t0013g0065 a0001c0013t0089g0047 a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0014t0002g0055 a0001c0014t0034g0072 a0001c0017t0005g0031 a0001c0017t0005g0067 a0001c0018t0009g0066 a0001c0019t0005g0037 a0001c0020t0093g0034 a0001c0023t0002g0049 a0001c0023t0009g0071 a0001c0024t0002g0048 a0001c0026t0010g0045 a0001c0027t0096g0060 a0001c0028t0019g0024 a0001c0032t0033g0039 a0001c0032t0097g0053 a0001c0033t0098g0026 a0001c0035t0010g0063 a0001c0035t0095g0041 a0001c0045t0091g0036 a0001c0054t0034g0056 a0001c0061t0009g0040 a0001c0064t0006g0106 a0001c0068t0025g0104 a0001c0071t0088g0035 a0001c0073t0002g0070 a0001c0081t0002g0022 a0001c0087t0002g0051 a0004c0082t0010g0052	51	196	0.2602	-36	c.162 others(55): Show c.162+15460_162+15495delGTATATATATATGTATATATATATAT ATATATATAT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665494	TTTCCTTT others(29): Show TTTCCTTTCCATGTCCTTTCCTTTCCTTTCCATGTCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02258.hp2 HG00741.hp1 HG02258.hp2	a0001 a0001	a0001c0025 a0001c0056 a0001c0025 a0001c0056	a0001c0025t0052 a0001c0056t0001 a0001c0025t0052 a0001c0056t0001	a0001c0025t0052g0181 a0001c0056t0001g0107 a0001c0025t0052g0181 a0001c0056t0001g0107	2	196	0.0102	-36	c.348 others(55): Show c.348+21687_348+21722delCCTTTCCATGTCCTTTCCTTTCCTTT CCATGTCCTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743737	CTACTAGC others(29): Show CTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19043.hp2 HG02717.hp2 NA19043.hp2	a0001 a0001	a0001c0059 a0001c0087 a0001c0059 a0001c0087	a0001c0059t0080 a0001c0087t0002 a0001c0059t0080 a0001c0087t0002	a0001c0059t0080g0006 a0001c0087t0002g0051 a0001c0059t0080g0006 a0001c0087t0002g0051	2	196	0.0102	-36	c.655 others(55): Show c.655-10245_655-10210delTCTCCTGGTTACTAGCAGAGCCCTGG CTACTAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743773	TTACTAGC others(29): Show TTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0085 a0001c0029t0085	a0001c0029t0085g0012 a0001c0029t0085g0012	1	196	0.0051	-36	c.655 others(55): Show c.655-10201_655-10166delCTACTAGCAGAGCCCTGGCTACTAGC ACAGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743809	CTACTAGC others(29): Show CTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0182 a0001c0003t0001g0182	1	196	0.0051	-36	c.655 others(55): Show c.655-10165_655-10130delTTACTAGCAGAGCCCTGGCTACTAGC ACAGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743890	CTGTCCTG others(29): Show CTGTCCTGGTTACGAGCACAGCCCTGGTTACTAGCAG	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0009 a0001c0023t0009	a0001c0023t0009g0071 a0001c0023t0009g0071	1	196	0.0051	-36	c.655 others(55): Show c.655-10119_655-10084delTGTCCTGGTTACGAGCACAGCCCTGG TTACTAGCAG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743956	CTAGCACA others(29): Show CTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0075 a0001c0005t0075	a0001c0005t0075g0009 a0001c0005t0075g0009	1	196	0.0051	-36	c.655 others(55): Show c.655-10053_655-10018delTAGCACAGCCCTGGCTACTAGCACTG TCCTGGTTAT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743957	TAGCACAG others(29): Show TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0085 a0001c0029t0085	a0001c0029t0085g0012 a0001c0029t0085g0012	1	196	0.0051	-36	c.655 others(55): Show c.655-10039_655-10004delCTACTAGCACTGTCCTGGTTATGAGC ACAGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744037	CCCTGGTT others(29): Show CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0087 a0001c0006t0087	a0001c0006t0087g0013 a0001c0006t0087g0013	1	196	0.0051	-36	c.655 others(53): Show c.655-9963_655-9928delTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744479	TAGCACAG others(29): Show TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01167.hp1 others(8): Show HG00140.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01361.hp2 HG01517.hp1 HG01934.hp2 HG02258.hp1 HG02886.hp1 HG02897.hp1 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0010 others(4): Show a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0001c0015 a0001c0021 a0001c0027	a0001c0004t0014 a0001c0004t0023 a0001c0007t0030 others(7): Show a0001c0004t0014 a0001c0004t0023 a0001c0007t0030 a0001c0010t0056 a0001c0010t0071 a0001c0011t0047 a0001c0015t0046 a0001c0021t0079 a0001c0027t0016 a0001c0027t0096	a0001c0004t0014g0098 a0001c0004t0023g0074 a0001c0007t0030g0018 others(8): Show a0001c0004t0014g0098 a0001c0004t0023g0074 a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0010t0056g0183 a0001c0010t0071g0184 a0001c0011t0047g0076 a0001c0015t0046g0079 a0001c0021t0079g0005 a0001c0027t0016g0185 a0001c0027t0096g0060	11	196	0.0561	-36	c.655 others(53): Show c.655-9507_655-9472delTGTCCTGGTTACGAGCACAGCCCTGGCT ACTAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744667	CCCTGGCT others(29): Show CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0004 a0001c0041t0004	a0001c0041t0004g0175 a0001c0041t0004g0175	1	196	0.0051	-36	c.655 others(53): Show c.655-9327_655-9292delAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744799	CTACTAGC others(29): Show CTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0004 a0001c0041t0004	a0001c0041t0004g0175 a0001c0041t0004g0175	1	196	0.0051	-36	c.655 others(53): Show c.655-9183_655-9148delAGCCCTGGTTACTAGCACTGTCCTGGCT ACTAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744847	TCCTGGCT others(29): Show TCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0090 a0001c0007t0090	a0001c0007t0090g0025 a0001c0007t0090g0025	1	196	0.0051	-36	c.655 others(53): Show c.655-9139_655-9104delTTACGAGCACAGCCCTGGCTACTAGCAC TGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPUSD3_chr3_9832849_9849008	9848507	ACGGGGTT others(29): Show ACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0010 a0002c0003t0003g0010	1	452	0.0022	-36	c.-45 others(47): Show c.-4553_-4518delAGATGCTGTTAATCTATAACCTTACCCCCAACCC CG		RPUSD3	ENSG00000156990.14	transcript	ENST00000383820.10	protein_coding					4500		chr3	TogoVar
RRP12_chr10_97351701_97406340	97385075	CCCCCCAC others(29): Show CCCCCCACCTCGGCAGCCTGGACACAGGCCCTGAGCA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(149): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19065.hp1 NA19070.hp2 NA19078.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0008 a0010 a0011 a0014	a0001c0006 a0001c0007 a0001c0008 others(16): Show a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0015 a0001c0018 a0001c0019 a0001c0025 a0001c0026 a0002c0022 a0003c0002 a0003c0024 a0003c0027 a0005c0023 a0006c0012 a0008c0017 a0010c0035 a0011c0034 a0014c0021	a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 others(19): Show a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0008t0003 a0001c0008t0004 a0001c0011t0001 a0001c0015t0001 a0001c0018t0001 a0001c0019t0001 a0001c0025t0001 a0001c0026t0001 a0002c0022t0001 a0003c0002t0001 a0003c0002t0002 a0003c0024t0001 a0003c0027t0001 a0005c0023t0001 a0006c0012t0001 a0008c0017t0001 a0010c0035t0001 a0011c0034t0001 a0014c0021t0001	a0001c0006t0001g0210 a0001c0006t0001g0218 a0001c0006t0001g0226 others(145): Show a0001c0006t0001g0210 a0001c0006t0001g0218 a0001c0006t0001g0226 a0001c0006t0001g0227 a0001c0006t0001g0228 a0001c0006t0001g0229 a0001c0006t0001g0230 a0001c0006t0001g0238 a0001c0006t0001g0239 a0001c0006t0001g0249 a0001c0006t0001g0250 a0001c0006t0001g0262 a0001c0007t0001g0219 a0001c0007t0001g0220 a0001c0007t0001g0221 a0001c0007t0001g0224 a0001c0007t0001g0225 a0001c0007t0001g0237 a0001c0007t0001g0245 a0001c0007t0001g0246 a0001c0007t0001g0247 a0001c0007t0001g0248 a0001c0007t0001g0261 a0001c0008t0001g0211 a0001c0008t0001g0212 a0001c0008t0001g0214 a0001c0008t0001g0243 a0001c0008t0001g0244 a0001c0008t0001g0260 a0001c0008t0001g0273 a0001c0008t0001g0343 a0001c0008t0003g0215 a0001c0008t0004g0216 a0001c0011t0001g0202 a0001c0011t0001g0203 a0001c0011t0001g0204 a0001c0011t0001g0208 a0001c0011t0001g0209 a0001c0015t0001g0201 a0001c0015t0001g0205 a0001c0015t0001g0345 a0001c0018t0001g0014 a0001c0019t0001g0206 a0001c0019t0001g0207 a0001c0025t0001g0285 a0001c0026t0001g0299 a0002c0022t0001g0293 a0003c0002t0001g0003 a0003c0002t0001g0015 a0003c0002t0001g0213 a0003c0002t0001g0222 a0003c0002t0001g0223 a0003c0002t0001g0231 a0003c0002t0001g0232 a0003c0002t0001g0233 a0003c0002t0001g0234 a0003c0002t0001g0235 a0003c0002t0001g0236 a0003c0002t0001g0241 a0003c0002t0001g0242 a0003c0002t0001g0251 a0003c0002t0001g0252 a0003c0002t0001g0253 a0003c0002t0001g0254 a0003c0002t0001g0255 a0003c0002t0001g0256 a0003c0002t0001g0257 a0003c0002t0001g0259 a0003c0002t0001g0263 a0003c0002t0001g0264 a0003c0002t0001g0265 a0003c0002t0001g0266 a0003c0002t0001g0268 a0003c0002t0001g0269 a0003c0002t0001g0270 a0003c0002t0001g0271 a0003c0002t0001g0272 a0003c0002t0001g0274 a0003c0002t0001g0275 a0003c0002t0001g0276 a0003c0002t0001g0277 a0003c0002t0001g0278 a0003c0002t0001g0279 a0003c0002t0001g0280 a0003c0002t0001g0281 a0003c0002t0001g0282 a0003c0002t0001g0283 a0003c0002t0001g0284 a0003c0002t0001g0286 a0003c0002t0001g0287 a0003c0002t0001g0288 a0003c0002t0001g0289 a0003c0002t0001g0290 a0003c0002t0001g0291 a0003c0002t0001g0292 a0003c0002t0001g0294 a0003c0002t0001g0295 a0003c0002t0001g0296 a0003c0002t0001g0297 a0003c0002t0001g0298 a0003c0002t0001g0300 a0003c0002t0001g0301 a0003c0002t0001g0302 a0003c0002t0001g0306 a0003c0002t0001g0307 a0003c0002t0001g0309 a0003c0002t0001g0310 a0003c0002t0001g0311 a0003c0002t0001g0312 a0003c0002t0001g0313 a0003c0002t0001g0316 a0003c0002t0001g0317 a0003c0002t0001g0318 a0003c0002t0001g0319 a0003c0002t0001g0321 a0003c0002t0001g0322 a0003c0002t0001g0323 a0003c0002t0001g0324 a0003c0002t0001g0325 a0003c0002t0001g0326 a0003c0002t0001g0327 a0003c0002t0001g0329 a0003c0002t0001g0330 a0003c0002t0001g0331 a0003c0002t0001g0332 a0003c0002t0001g0333 a0003c0002t0001g0334 a0003c0002t0001g0335 a0003c0002t0001g0336 a0003c0002t0001g0337 a0003c0002t0001g0338 a0003c0002t0001g0339 a0003c0002t0001g0340 a0003c0002t0001g0341 a0003c0002t0001g0344 a0003c0002t0002g0267 a0003c0024t0001g0314 a0003c0027t0001g0320 a0005c0023t0001g0328 a0006c0012t0001g0303 a0006c0012t0001g0304 a0006c0012t0001g0305 a0006c0012t0001g0308 a0008c0017t0001g0240 a0008c0017t0001g0258 a0010c0035t0001g0342 a0011c0034t0001g0028 a0014c0021t0001g0315	152	400	0.3800	-36	c.120 others(51): Show c.1208+55_1208+90delTGCTCAGGGCCTGTGTCCAGGCTGCCGAGG TGGGGG		RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	10/33						chr10	TogoVar
RRP12_chr10_97351701_97406340	97397992	CGTATATA others(29): Show CGTATATATATATACATATATATATATATATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0029 a0001c0004t0001g0029	1	400	0.0025	-36	c.370 others(53): Show c.370-1727_370-1692delATATACATATATATATATATATGTATAT ATATATAC		RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33						chr10	TogoVar
RRP1_chr21_43784577_43810293	43785083	TGTGTATA others(29): Show TGTGTATATATATATATATATATATATATAAAATAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	394	0.0025	-36	c.-45 others(47): Show c.-4546_-4511delGTGTATATATATATATATATATATATATAAAATA GG		RRP1	ENSG00000160214.13	transcript	ENST00000497547.2	protein_coding					4493		chr21	TogoVar
RSPH14_chr22_23054415_23146990	23130059	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01169.hp2 HG01255.hp2 others(4): Show HG00639.hp1 HG01169.hp2 HG01255.hp2 HG02486.hp2 HG02965.hp2 HG03579.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0173 others(4): Show a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0216 a0001c0001t0001g0260 a0001c0001t0001g0282 a0003c0004t0001g0175	7	314	0.0223	-36	c.421 others(53): Show c.421+3931_421+3966delCTTTCTTTCTTCCTTTCTTTCTTTCTTT CTTTCTTT		RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6						chr22	TogoVar
RSPO3_chr6_127113671_127204481	127117974	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	310	0.0032	-36	c.-12 others(47): Show c.-1218_-1183delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AG		RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding					696		chr6	TogoVar
RSPRY1_chr16_57181329_57245469	57201117	CAGGCGGA others(29): Show CAGGCGGAGTGGCTGCCGGGCGGAGGGGCTCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0287 a0002c0002t0018g0287	1	358	0.0028	-36	c.-15 others(55): Show c.-155-3386_-155-3351delAGGCGGAGTGGCTGCCGGGCGGAGGG GCTCCTCACT		RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14						chr16	TogoVar
RSU1_chr10_16585611_16822424	16785702	TTGGCAGG others(29): Show TTGGCAGGGATATCGCAGAAACACTGTGCTCTTGTCA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01358.hp1 HG02071.hp2 others(13): Show HG00408.hp1 HG01358.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02257.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA19005.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0024 others(6): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0024 a0001c0001t0052 a0001c0002t0002 a0001c0002t0011 a0001c0002t0020 a0001c0003t0001 a0001c0003t0005	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0151 others(13): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0010g0028 a0001c0001t0024g0150 a0001c0001t0052g0157 a0001c0002t0002g0072 a0001c0002t0011g0071 a0001c0002t0020g0073 a0001c0003t0001g0124 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0152 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0005g0135	16	190	0.0842	-36	c.110 others(53): Show c.110-3654_110-3619delTGACAAGAGCACAGTGTTTCTGCGATAT CCCTGCCA		RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	2/8						chr10	TogoVar
RTN1_chr14_59590983_59875776	59749252	ATATCTAT others(29): Show ATATCTATATATATCTATATATATATCTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	172	0.0058	-36	c.242 others(53): Show c.242-2807_242-2772delGATATATATAGATATATATATAGATATA TATAGATA		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
RXRA_chr9_134321455_134445585	134384082	TGGGGAGT others(29): Show TGGGGAGTCCTGGACTCTCCACACTGTCACCCTGTGG	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18969.hp2 NA19011.hp1 HG01257.hp1 NA18969.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0056 a0001c0001t0001 a0001c0001t0003 a0001c0001t0056	a0001c0001t0001g0175 a0001c0001t0003g0174 a0001c0001t0056g0167 a0001c0001t0001g0175 a0001c0001t0003g0174 a0001c0001t0056g0167	3	232	0.0129	-36	c.29- others(53): Show c.29-17540_29-17505delTGGACTCTCCACACTGTCACCCTGTGGG GGGAGTCC		RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
RYR1_chr19_38428691_38592564	38502778	GGCAGGGG others(29): Show GGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01255.hp2 others(5): Show HG00639.hp1 HG00733.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG02622.hp1 HG02809.hp1 HG03491.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0018 others(4): Show a0001c0001 a0001c0005 a0001c0018 a0001c0070 a0001c0101 a0001c0111 a0002c0008	a0001c0001t0001 a0001c0005t0001 a0001c0018t0001 others(4): Show a0001c0001t0001 a0001c0005t0001 a0001c0018t0001 a0001c0070t0001 a0001c0101t0001 a0001c0111t0001 a0002c0008t0001	a0001c0001t0001g0026 a0001c0005t0001g0176 a0001c0018t0001g0160 others(5): Show a0001c0001t0001g0026 a0001c0005t0001g0176 a0001c0018t0001g0160 a0001c0018t0001g0161 a0001c0070t0001g0002 a0001c0101t0001g0041 a0001c0111t0001g0140 a0002c0008t0001g0163	8	218	0.0367	-36	c.783 others(51): Show c.7835+68_7836-50delGGGCAGGGGCAGGGGGAGGAGCAGGGGCAG GGGCAG		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105					INFO_REALIGN_3_PRIME	chr19	TogoVar
SAA2_chr11_18240240_18253668	18251906	CTTTCTTT others(29): Show CTTTCTTTATTTATTTATTTATTTATTTATTTATTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG02717.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	474	0.0042	-36	c.-33 others(47): Show c.-3344_-3309delTAAATAAATAAATAAATAAATAAATAAATAAAGA AA		SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding					3239		chr11	TogoVar
SAGSIN1_chr7_6324411_6353967	6353902	ATAGATGT others(29): Show ATAGATGTACACAAACACATATACATACATAAATGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0017 a0001c0001t0014g0017	1	420	0.0024	-36	c.-51 others(47): Show c.-5180_-5145delAACATTTATGTATGTATATGTGTTTGTGTACATC TA		SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding					4936		chr7	TogoVar
SAMD12_chr8_118372984_118626963	118605765	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 homoSapiens_chm13v2.hp1 HG01361.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0006 a0001c0002t0001g0141 a0001c0001t0003g0006 a0001c0002t0001g0141	2	188	0.0106	-36	c.13+ others(53): Show c.13+16003_13+16038delATATATATATATATATATATATATATAT ATATATAT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	1/3						chr8	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA19043.hp2 HG03492.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0029 a0001c0001t0010 a0001c0001t0029	a0001c0001t0010g0021 a0001c0001t0029g0216 a0001c0001t0010g0021 a0001c0001t0029g0216	2	262	0.0076	-36	c.197 others(55): Show c.197-23581_197-23546delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT		SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMM50_chr22_43950442_44001529	43997766	GTTTTGGT others(29): Show GTTTTGGTTGGGCGTGGTGGCTTGCACCTGTAATCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0327 a0001c0020t0001g0327	1	378	0.0027	-36	c.13 others(47): Show c.1384_*1419delTTTTGGTTGGGCGTGGTGGCTTGCACCTGTAATC AC		SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding					1238		chr22	TogoVar
SARDH_chr9_133658560_133743352	133659859	CTCTTCCC others(29): Show CTCTTCCCGCGATCACACCCAATTGCCAGCCCAGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0219 a0002c0002t0004g0219	1	262	0.0038	-36	c.39 others(47): Show c.3994_*4029delTCTCTGGGCTGGCAATTGGGTGTGATCGCGGGAA GA		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding					3700		chr9	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02109.hp2 HG02897.hp2 others(3): Show HG02074.hp1 HG02109.hp2 HG02897.hp2 HG04115.hp2 NA18957.hp2 NA18990.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0004c0008	a0001c0001t0001 a0001c0003t0012 a0001c0007t0006 others(3): Show a0001c0001t0001 a0001c0003t0012 a0001c0007t0006 a0002c0002t0003 a0002c0004t0008 a0004c0008t0003	a0001c0001t0001g0294 a0001c0003t0012g0214 a0001c0007t0006g0232 others(3): Show a0001c0001t0001g0294 a0001c0003t0012g0214 a0001c0007t0006g0232 a0002c0002t0003g0299 a0002c0004t0008g0255 a0004c0008t0003g0069	6	322	0.0186	-36	c.157 others(53): Show c.157-2477_157-2442delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC		SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421134	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01243.hp1 others(6): Show HG01070.hp1 HG01071.hp2 HG01243.hp1 HG01981.hp2 HG02071.hp1 HG02080.hp1 HG03017.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0004 a0001c0001t0009 a0001c0001t0025 others(3): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0025 a0002c0002t0001 a0002c0002t0004 a0002c0005t0006	a0001c0001t0004g0050 a0001c0001t0009g0002 a0001c0001t0009g0004 others(6): Show a0001c0001t0004g0050 a0001c0001t0009g0002 a0001c0001t0009g0004 a0001c0001t0025g0005 a0002c0002t0001g0297 a0002c0002t0004g0080 a0002c0005t0006g0013 a0002c0005t0006g0161 a0002c0005t0006g0302	9	322	0.0280	-36	c.286 others(55): Show c.286-19046_286-19011delGAAGGAAGGAAGAAAGAAAGAAAGAA AGAAAGAAAG		SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421138	GAAGGAAG others(29): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0044	1	322	0.0031	-36	c.286 others(55): Show c.286-19042_286-19007delGAAGGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG		SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SBK1_chr16_28287525_28328849	28322919	GCTCTCTC others(29): Show GCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02818.hp1 others(1): Show HG02615.hp2 HG02723.hp2 HG02818.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0059 a0001c0003t0187 a0001c0003t0190 others(1): Show a0001c0003t0059 a0001c0003t0187 a0001c0003t0190 a0001c0003t0191	a0001c0003t0059g0288 a0001c0003t0187g0304 a0001c0003t0190g0287 others(1): Show a0001c0003t0059g0288 a0001c0003t0187g0304 a0001c0003t0190g0287 a0001c0003t0191g0286	4	384	0.0104	-36	c.20 others(47): Show c.2010_*2045delCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC		SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4				2010	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK2_chr19_55523611_55542133	55537684	CCCCCAGC others(29): Show CCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00558.hp1 others(18): Show HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00735.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01943.hp1 HG02647.hp2 HG02738.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp2 NA19043.hp1 NA20805.hp2	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0008	a0000c0003 a0001c0001 a0001c0004 others(2): Show a0000c0003 a0001c0001 a0001c0004 a0002c0002 a0008c0022	a0000c0003t0003 a0000c0003t0023 a0001c0001t0003 others(9): Show a0000c0003t0003 a0000c0003t0023 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0023 a0001c0004t0003 a0001c0004t0004 a0001c0004t0008 a0001c0004t0013 a0002c0002t0013 a0008c0022t0023	a0000c0003t0003g0223 a0000c0003t0023g0121 a0001c0001t0003g0034 others(14): Show a0000c0003t0003g0223 a0000c0003t0023g0121 a0001c0001t0003g0034 a0001c0001t0003g0116 a0001c0001t0003g0214 a0001c0001t0012g0021 a0001c0001t0012g0220 a0001c0001t0012g0221 a0001c0001t0013g0178 a0001c0001t0013g0213 a0001c0001t0023g0119 a0001c0004t0003g0117 a0001c0004t0004g0115 a0001c0004t0008g0118 a0001c0004t0013g0035 a0002c0002t0013g0273 a0008c0022t0023g0120	21	434	0.0484	-36	c.-66 others(45): Show c.-669_-634delCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG		SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding					552		chr19	TogoVar
SBK3_chr19_55535656_55550543	55537684	CCCCCAGC others(29): Show CCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00558.hp2 others(19): Show HG00140.hp2 HG00280.hp1 HG00558.hp2 HG00735.hp2 HG01168.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01943.hp1 HG02647.hp1 HG02738.hp2 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 NA19043.hp2 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0008 a0001c0001 a0001c0002 a0005c0008	a0001c0001t0001 a0001c0002t0001 a0005c0008t0001 a0001c0001t0001 a0001c0002t0001 a0005c0008t0001	a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0018 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0002t0001g0002 a0005c0008t0001g0033 a0005c0008t0001g0068	22	438	0.0502	-36	c.31 others(47): Show c.3126_*3161delCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GG		SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding					2971		chr19	TogoVar
SBNO2_chr19_1102638_1179268	1157889	TCTCTCTC others(29): Show TCTCTCTCCTGAGTCCGGATAACTGTCCGCCTCCCAG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0181 a0001c0010t0001g0181	1	203	0.0049	-36	c.-12 others(55): Show c.-126-3523_-126-3488delCTGGGAGGCGGACAGTTATCCGGACT CAGGAGAGAG		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31						chr19	TogoVar
SBNO2_chr19_1102638_1179268	1157979	ATAACTGT others(29): Show ATAACTGTCCGCCTCCCAGCTCTCTCCTGAGTCTGGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03471.hp1 HG02280.hp2 HG03471.hp1	a0001 a0006 a0001 a0006	a0001c0016 a0006c0029 a0001c0016 a0006c0029	a0001c0016t0005 a0006c0029t0005 a0001c0016t0005 a0006c0029t0005	a0001c0016t0005g0030 a0006c0029t0005g0033 a0001c0016t0005g0030 a0006c0029t0005g0033	2	203	0.0099	-36	c.-12 others(55): Show c.-126-3613_-126-3578delCCCAGACTCAGGAGAGAGCTGGGAGG CGGACAGTTA		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31						chr19	TogoVar
SCAF8_chr6_154728416_154839221	154794780	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	282	0.0036	-36	c.476 others(51): Show c.476-214_476-179delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT		SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SCARA5_chr8_27864883_27997673	27918643	GGAGGAGG others(29): Show GGAGGAGGAAAAGGAAGATGAGGAGGAAAAGGAAGAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp1 HG01884.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0003t0060 a0001c0001t0014 a0001c0003t0060	a0001c0001t0014g0214 a0001c0003t0060g0259 a0001c0001t0014g0214 a0001c0003t0060g0259	2	314	0.0064	-36	c.916 others(53): Show c.916+2892_916+2927delATCTTCCTTTTCCTCCTCATCTTCCTTT TCCTCCTC		SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8						chr8	TogoVar
SCD5_chr4_82624539_82803796	82712243	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02723.hp2 HG01884.hp1 HG02109.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0002t0009 a0001c0001t0002 a0001c0001t0009 a0001c0002t0009	a0001c0001t0002g0130 a0001c0001t0009g0198 a0001c0002t0009g0206 a0001c0001t0002g0130 a0001c0001t0009g0198 a0001c0002t0009g0206	3	210	0.0143	-36	c.233 others(53): Show c.233-6866_233-6831delATATATATATATATATATATATATATAT ATATATAT		SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4						chr4	TogoVar

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