JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
RPS6KA2_chr6_166404364_166632251	166480514	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0015 a0001c0043t0015	a0001c0043t0015g0220 a0001c0043t0015g0220	1	244	0.0041	30	c.907 others(47): Show c.907+8318_907+8319insTTATATATATATATATATATATATATAT AT		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20						chr6	TogoVar
RPS6KA6_chrX_84053350_84193199	84140758	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18943.hp1 NA19087.hp1 HG02071.hp1 NA18943.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039	a0002c0002t0037g0022 a0002c0002t0038g0024 a0002c0002t0039g0021 a0002c0002t0037g0022 a0002c0002t0038g0024 a0002c0002t0039g0021	3	272	0.0110	30	c.501 others(47): Show c.501+4719_501+4720insATATATATATATATATATATATATATAT AT		RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21						chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01516.hp2 others(9): Show HG00099.hp1 HG00639.hp1 HG01516.hp2 HG02148.hp2 HG02602.hp1 NA18952.hp1 NA18966.hp2 NA18972.hp2 NA19030.hp2 NA19074.hp2 NA19084.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0057 others(9): Show a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0304 a0001c0001t0008g0056	12	330	0.0364	30	c.472 others(45): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213205536	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19006.hp2 NA19074.hp2 others(1): Show NA18940.hp1 NA19006.hp2 NA19074.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0305 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0305 a0001c0001t0001g0314	4	330	0.0121	30	c.104 others(51): Show c.1045-24951_1045-24950insTATATATATATATATATATATATA TATATA		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KL1_chr14_74898951_74928260	74919403	C C	CTGTGTGT others(23): Show CTGTGTGTGTGCACATACATGCACACAGATA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	370	0.0027	30	c.390 others(45): Show c.390+412_390+441dupTATCTGTGTGCATGTATGTGCACACACACA		RPS6KL1	ENSG00000198208.12	transcript	ENST00000557413.6	protein_coding	4/11						chr14	TogoVar
RPTOR_chr17_80539838_80971368	80685602	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0069 a0001c0003t0010g0069	1	196	0.0051	30	c.349 others(49): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATAT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0009 a0001c0061t0009	a0001c0061t0009g0040 a0001c0061t0009g0040	1	196	0.0051	30	c.349 others(49): Show c.349-22213_349-22212insATATATATATATATATATATATATTT TTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0013 a0001c0013t0013	a0001c0013t0013g0065 a0001c0013t0013g0065	1	196	0.0051	30	c.349 others(49): Show c.349-22213_349-22212insATATATATATATATTTTTTTTTTTTT TTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80943718	T T	TTCAGGTG others(23): Show TTCAGGTGAGGACACGGTTAGTAAGAGCCAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(109): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18963.hp1 NA18963.hp2 NA18980.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19088.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(55): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0021 a0001c0023 a0001c0024 a0001c0025 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0032 a0001c0033 a0001c0039 a0001c0041 a0001c0042 a0001c0044 a0001c0047 a0001c0049 a0001c0051 a0001c0052 a0001c0054 a0001c0057 a0001c0059 a0001c0064 a0001c0066 a0001c0067 a0001c0068 a0001c0070 a0001c0071 a0001c0075 a0001c0076 a0001c0077 a0001c0080 a0001c0083 a0001c0085 a0001c0087 a0001c0089 a0001c0093 a0001c0094 a0001c0095 a0001c0097 a0002c0062 a0003c0069 a0005c0092	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(95): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0092 a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0015 a0001c0002t0017 a0001c0002t0039 a0001c0003t0013 a0001c0003t0014 a0001c0004t0001 a0001c0004t0014 a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 a0001c0006t0013 a0001c0006t0076 a0001c0006t0082 a0001c0006t0087 a0001c0007t0030 a0001c0007t0069 a0001c0007t0084 a0001c0008t0036 a0001c0009t0001 a0001c0009t0012 a0001c0009t0028 a0001c0009t0078 a0001c0011t0047 a0001c0012t0003 a0001c0012t0018 a0001c0013t0013 a0001c0013t0089 a0001c0014t0002 a0001c0014t0034 a0001c0015t0008 a0001c0015t0046 a0001c0017t0005 a0001c0017t0015 a0001c0018t0009 a0001c0018t0016 a0001c0018t0017 a0001c0021t0018 a0001c0021t0065 a0001c0021t0079 a0001c0023t0002 a0001c0023t0008 a0001c0023t0009 a0001c0024t0002 a0001c0024t0003 a0001c0024t0037 a0001c0025t0051 a0001c0025t0052 a0001c0027t0016 a0001c0027t0096 a0001c0028t0006 a0001c0028t0019 a0001c0029t0025 a0001c0030t0003 a0001c0032t0033 a0001c0032t0097 a0001c0033t0023 a0001c0033t0098 a0001c0039t0061 a0001c0041t0004 a0001c0042t0055 a0001c0044t0045 a0001c0047t0012 a0001c0049t0011 a0001c0051t0060 a0001c0052t0003 a0001c0054t0034 a0001c0057t0077 a0001c0059t0080 a0001c0064t0006 a0001c0066t0058 a0001c0067t0068 a0001c0068t0025 a0001c0070t0020 a0001c0071t0088 a0001c0075t0012 a0001c0076t0011 a0001c0077t0086 a0001c0080t0011 a0001c0083t0028 a0001c0085t0003 a0001c0087t0002 a0001c0089t0006 a0001c0093t0070 a0001c0094t0057 a0001c0095t0003 a0001c0097t0001 a0002c0062t0018 a0003c0069t0044 a0005c0092t0012	a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 others(109): Show a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 a0001c0001t0005g0046 a0001c0001t0009g0030 a0001c0001t0015g0085 a0001c0001t0019g0050 a0001c0001t0019g0057 a0001c0001t0092g0029 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0008g0131 a0001c0002t0010g0064 a0001c0002t0015g0086 a0001c0002t0017g0118 a0001c0002t0039g0088 a0001c0003t0013g0043 a0001c0003t0014g0102 a0001c0004t0001g0152 a0001c0004t0014g0081 a0001c0004t0014g0098 a0001c0004t0035g0004 a0001c0005t0074g0008 a0001c0005t0075g0009 a0001c0006t0013g0068 a0001c0006t0076g0192 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0007t0069g0128 a0001c0007t0084g0007 a0001c0008t0036g0002 a0001c0009t0001g0125 a0001c0009t0012g0103 a0001c0009t0028g0113 a0001c0009t0078g0021 a0001c0011t0047g0076 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0012t0003g0189 a0001c0012t0018g0194 a0001c0013t0013g0062 a0001c0013t0013g0065 a0001c0013t0089g0047 a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0014t0002g0055 a0001c0014t0034g0072 a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0015t0046g0079 a0001c0017t0005g0031 a0001c0017t0005g0067 a0001c0017t0015g0082 a0001c0018t0009g0066 a0001c0018t0016g0120 a0001c0018t0017g0140 a0001c0021t0018g0014 a0001c0021t0065g0112 a0001c0021t0079g0005 a0001c0023t0002g0049 a0001c0023t0008g0134 a0001c0023t0009g0071 a0001c0024t0002g0048 a0001c0024t0003g0129 a0001c0024t0037g0092 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0027t0016g0185 a0001c0027t0096g0060 a0001c0028t0006g0124 a0001c0028t0019g0024 a0001c0029t0025g0153 a0001c0030t0003g0115 a0001c0030t0003g0117 a0001c0032t0033g0039 a0001c0032t0097g0053 a0001c0033t0023g0075 a0001c0033t0098g0026 a0001c0039t0061g0177 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0044t0045g0080 a0001c0047t0012g0150 a0001c0049t0011g0078 a0001c0051t0060g0116 a0001c0052t0003g0149 a0001c0054t0034g0056 a0001c0057t0077g0016 a0001c0059t0080g0006 a0001c0064t0006g0106 a0001c0066t0058g0126 a0001c0067t0068g0110 a0001c0068t0025g0104 a0001c0070t0020g0003 a0001c0071t0088g0035 a0001c0075t0012g0127 a0001c0076t0011g0084 a0001c0077t0086g0195 a0001c0080t0011g0077 a0001c0083t0028g0158 a0001c0085t0003g0162 a0001c0087t0002g0051 a0001c0089t0006g0159 a0001c0093t0070g0155 a0001c0094t0057g0136 a0001c0095t0003g0137 a0001c0097t0001g0157 a0002c0062t0018g0191 a0003c0069t0044g0099 a0005c0092t0012g0163	112	196	0.5714	30	c.302 others(49): Show c.3026-1858_3026-1829dupTCAGGTGAGGACACGGTTAGTAAGAG CCAG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	25/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPUSD2_chr15_40564299_40579949	40569992	G G	GGTTTTGT others(23): Show GGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02922.hp2 HG03453.hp1 HG02155.hp2 HG02922.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0024 a0001c0001t0001g0040	3	392	0.0077	30	c.606 others(43): Show c.606+74_606+75insGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT		RPUSD2	ENSG00000166133.18	transcript	ENST00000315616.12	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr15	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02080.hp1 HG02293.hp2 others(8): Show HG01109.hp2 HG02080.hp1 HG02293.hp2 HG02886.hp1 NA18981.hp2 NA18985.hp2 NA19005.hp1 NA19010.hp2 NA19056.hp1 NA19065.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 a0001c0001t0026 a0001c0001t0063	a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 others(8): Show a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0139 a0001c0001t0002g0152 a0001c0001t0006g0101 a0001c0001t0018g0125 a0001c0001t0026g0099 a0001c0001t0063g0269	11	372	0.0296	30	c.445 others(47): Show c.445-2034_445-2033insATATATATATATATATATATATATATAT AT		RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6						chr6	TogoVar
RRAS2_chr11_14272922_14364183	14293124	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03834.hp1 HG02630.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0044 a0001c0001t0010g0080 a0001c0001t0001g0044 a0001c0001t0010g0080	2	279	0.0072	30	c.408 others(47): Show c.408+1317_408+1346dupATATATATATATATATATATATATATAT AT		RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	4/5						chr11	TogoVar
RRBP1_chr20_17608679_17687242	17613339	G G	GCAACAGC others(23): Show GCAACAGCCCGGGCATTCCCGGACCTCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0118 a0013c0013t0001g0118	1	350	0.0029	30	c.84 others(39): Show c.842_*843insTGTGGAGGTCCGGGAATGCCCGGGCTGTTG		RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding					339		chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659116	A A	ACCCTCGG others(23): Show ACCCTCGGCCTTCTTGCTCTGGTTCTGGGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02486.hp2 HG03098.hp2 NA19240.hp2 HG02486.hp2 HG03098.hp2 NA19240.hp2	a0042 a0043 a0055 a0042 a0043 a0055	a0042c0059 a0043c0058 a0055c0070 a0042c0059 a0043c0058 a0055c0070	a0042c0059t0006 a0043c0058t0006 a0055c0070t0002 a0042c0059t0006 a0043c0058t0006 a0055c0070t0002	a0042c0059t0006g0018 a0043c0058t0006g0017 a0055c0070t0002g0322 a0042c0059t0006g0018 a0043c0058t0006g0017 a0055c0070t0002g0322	3	350	0.0086	30	c.139 others(39): Show c.1391_1392insGGCCCAGAACCAGAGCAAGAAGGCCGAGGG	p.Gly others(43): Show p.Gly464_Ala465insAlaGlnAsnGlnSerLysLysAlaGluGly	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1704/5049	1391/4233	464/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659141	T T	TGGGCCCC others(23): Show TGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01993.hp2 HG01993.hp2	a0064 a0064	a0064c0102 a0064c0102	a0064c0102t0001 a0064c0102t0001	a0064c0102t0001g0100 a0064c0102t0001g0100	1	350	0.0029	30	c.136 others(39): Show c.1366_1367insCGAACCAGGGCAAGAAGGCCGAGGGGGCCC	p.Ala others(43): Show p.Ala455_Gln456insProAsnGlnGlyLysLysAlaGluGlyAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1679/5049	1366/4233	456/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17685254	A A	AGAAGGGG others(23): Show AGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0048 a0048	a0048c0115 a0048c0115	a0048c0115t0002 a0048c0115t0002	a0048c0115t0002g0052 a0048c0115t0002g0052	1	350	0.0029	30	c.-33 others(41): Show c.-3326_-3325insCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC		RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding					3013		chr20	TogoVar
RREB1_chr6_7102961_7256980	7103367	T T	TAATATTA others(23): Show TAATATTATATGTTAATTAACATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0009 a0006c0005t0009	a0006c0005t0009g0144 a0006c0005t0009g0144	1	292	0.0034	30	c.-49 others(41): Show c.-4978_-4977insAATATTATATGTTAATTAACATATAATATA		RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding					4593		chr6	TogoVar
RRM1_chr11_4089799_4143932	4130066	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01943.hp1 HG03831.hp2 HG01192.hp2 HG01943.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0304 a0001c0003t0002g0038 a0001c0003t0002g0057 a0001c0001t0001g0304 a0001c0003t0002g0038 a0001c0003t0002g0057	3	368	0.0082	30	c.176 others(47): Show c.1769+937_1769+938insATATATATATATATATATATATATATAT AT		RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
RRM2B_chr8_102199502_102243961	102215944	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18948.hp1 NA18943.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	386	0.0052	30	c.685 others(47): Show c.685-1787_685-1786insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		RRM2B	ENSG00000048392.13	transcript	ENST00000251810.8	protein_coding	6/8						chr8	TogoVar
RRP12_chr10_97351701_97406340	97398020	T T	TACATATA others(23): Show TACATATATATATATATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0204 a0001c0011t0001g0204	1	400	0.0025	30	c.370 others(47): Show c.370-1720_370-1719insGTATATGTATATATATATATATATATAT GT		RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33						chr10	TogoVar
RRP12_chr10_97351701_97406340	97398022	T T	TACATATA others(23): Show TACATATATATATATATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01255.hp2 HG01069.hp2 HG01071.hp1 HG01255.hp2	a0001 a0001	a0001c0011 a0001c0019 a0001c0011 a0001c0019	a0001c0011t0001 a0001c0019t0001 a0001c0011t0001 a0001c0019t0001	a0001c0011t0001g0208 a0001c0019t0001g0206 a0001c0019t0001g0207 a0001c0011t0001g0208 a0001c0019t0001g0206 a0001c0019t0001g0207	3	400	0.0075	30	c.370 others(47): Show c.370-1722_370-1721insGTATATGTATATATATATATATATATAT GT		RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33						chr10	TogoVar
RRP7A_chr22_42503344_42524796	42509848	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01358.hp1 others(2): Show HG00408.hp2 HG00639.hp1 HG01358.hp1 NA18949.hp2 NA18994.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0017 a0003c0004t0046 a0002c0001t0017 a0003c0004t0046	a0002c0001t0017g0016 a0003c0004t0046g0221 a0003c0004t0046g0224 a0002c0001t0017g0016 a0003c0004t0046g0221 a0003c0004t0046g0224	5	388	0.0129	30	c.30 others(41): Show c.3061_*3062insACACACACACACACACACACACACACACAC		RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7				3061		chr22	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG02135.hp1 others(7): Show HG00544.hp1 HG00673.hp1 HG02135.hp1 HG02145.hp2 HG04204.hp1 NA18949.hp1 NA18983.hp1 NA18984.hp2 NA18992.hp1 NA19074.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0005 a0002c0001 a0004c0005	a0002c0001t0009 a0002c0001t0124 a0004c0005t0085 a0002c0001t0009 a0002c0001t0124 a0004c0005t0085	a0002c0001t0009g0017 a0002c0001t0009g0035 a0002c0001t0009g0060 others(4): Show a0002c0001t0009g0017 a0002c0001t0009g0035 a0002c0001t0009g0060 a0002c0001t0009g0078 a0002c0001t0009g0106 a0002c0001t0124g0070 a0004c0005t0085g0214	10	388	0.0258	30	c.30 others(41): Show c.3059_*3060insACACACACACACACACACACACACACACAC		RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7				3059		chr22	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	336	0.0030	30	c.587 others(49): Show c.587-11145_587-11144insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSBN1L_chr7_77691459_77788022	77784318	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0048 a0002c0003t0007g0048	1	336	0.0030	30	c.51 others(41): Show c.5150_*5151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding					1297		chr7	TogoVar
RSPH14_chr22_23054415_23146990	23130489	G G	GAAGAAAG others(23): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0181 a0009c0012t0001g0181	1	314	0.0032	30	c.421 others(47): Show c.421+3536_421+3537insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT		RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6						chr22	TogoVar
RSPH14_chr22_23054415_23146990	23130496	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00642.hp2 others(29): Show HG00099.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01943.hp1 HG02015.hp2 HG02055.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02698.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03654.hp2 HG03688.hp1 HG04199.hp1 NA18960.hp2 NA18965.hp1 NA18983.hp1 NA18989.hp2 NA19081.hp1 NA19085.hp2 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0003c0004 a0006c0008	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0002c0003t0001 a0003c0004t0001 a0006c0008t0001	a0001c0001t0001g0126 a0001c0001t0001g0148 a0001c0001t0001g0168 others(29): Show a0001c0001t0001g0126 a0001c0001t0001g0148 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0256 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0309 a0001c0002t0001g0015 a0001c0002t0001g0039 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0106 a0001c0002t0001g0139 a0001c0010t0001g0290 a0002c0003t0001g0118 a0002c0003t0001g0123 a0002c0003t0001g0124 a0003c0004t0001g0178 a0006c0008t0001g0265	32	314	0.1019	30	c.421 others(47): Show c.421+3529_421+3530insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT		RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6						chr22	TogoVar
RSPH3_chr6_158967871_159005202	158984434	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19079.hp1 HG03130.hp2 NA19079.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0003c0004t0047 a0002c0002t0002 a0003c0004t0047	a0002c0002t0002g0208 a0003c0004t0047g0152 a0002c0002t0002g0208 a0003c0004t0047g0152	2	302	0.0066	30	c.347 others(45): Show c.347-628_347-627insTATATATATATATATATATATATATATAAA		RSPH3	ENSG00000130363.13	transcript	ENST00000367069.7	protein_coding	3/7						chr6	TogoVar
RSPRY1_chr16_57181329_57245469	57225571	A A	AAGTGAGG others(23): Show AAGTGAGGAGAGAGATTGGAAAAAAAGTTCT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0312 a0001c0001t0003g0312	1	358	0.0028	30	c.116 others(49): Show c.1162-1771_1162-1770insAGTGAGGAGAGAGATTGGAAAAAAAG TTCT		RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	10/14						chr16	TogoVar
RSRC1_chr3_158105089_158550730	158106571	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0113 a0001c0001t0017g0113	1	276	0.0036	30	c.-36 others(41): Show c.-3655_-3654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding					3517		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	276	0.0036	30	c.321 others(45): Show c.321-491_321-490insATATATATATATATATATATATATATATAT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG01258.hp1 others(8): Show HG00280.hp1 HG00544.hp2 HG01258.hp1 HG03704.hp2 NA18943.hp2 NA18952.hp2 NA18954.hp1 NA18971.hp1 NA18984.hp1 NA19062.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 a0001c0001t0001 a0001c0001t0005 a0001c0001t0025	a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0076 others(8): Show a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0219 a0001c0001t0005g0087 a0001c0001t0025g0185	11	276	0.0399	30	c.321 others(45): Show c.321-509_321-508insTTATATATATATATATATATATATATATAT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158229338	A A	ATGTATGT others(23): Show ATGTATGTATATAAACATACACACGTATATG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0210 a0001c0001t0010g0210	1	276	0.0036	30	c.494 others(49): Show c.494+26105_494+26106insAACATACACACGTATATGTGTATGTA TATA		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158229382	A A	ATATATAT others(23): Show ATATATATACACATATACACACGTATATGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0044 a0001c0001t0007g0044	1	276	0.0036	30	c.494 others(49): Show c.494+26138_494+26139insATATATACACATATACACACGTATAT GTGT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0009	1	276	0.0036	30	c.652 others(49): Show c.652+16824_652+16825insATATATATATATATATATATATATAT ATAT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG02683.hp2 others(3): Show HG00738.hp2 HG01192.hp1 HG02683.hp2 NA18747.hp2 NA19077.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011	a0001c0001t0002g0108 a0001c0001t0002g0245 a0001c0001t0002g0273 others(3): Show a0001c0001t0002g0108 a0001c0001t0002g0245 a0001c0001t0002g0273 a0001c0001t0004g0216 a0001c0001t0004g0256 a0001c0001t0011g0202	6	276	0.0217	30	c.652 others(49): Show c.652+16796_652+16797insTTATATATATATATATATATATATAT ATAT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16645908	A A	ATGTATAT others(23): Show ATGTATATATATATGTGTATATACATATATG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0021 a0001c0001t0009g0021	1	190	0.0053	30	c.731 others(49): Show c.731+49114_731+49115insCATATATGTATATACACATATATATA TACA		RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8						chr10	TogoVar
RSU1_chr10_16585611_16822424	16683160	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp2 HG02970.hp2 others(4): Show HG02486.hp2 HG02717.hp2 HG02970.hp2 HG03130.hp2 HG03486.hp1 HG03654.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0012 a0001c0001t0018 others(4): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0018 a0001c0001t0057 a0001c0002t0001 a0001c0002t0010 a0001c0002t0020	a0001c0001t0006g0163 a0001c0001t0012g0068 a0001c0001t0018g0011 others(4): Show a0001c0001t0006g0163 a0001c0001t0012g0068 a0001c0001t0018g0011 a0001c0001t0057g0115 a0001c0002t0001g0121 a0001c0002t0010g0070 a0001c0002t0020g0073	7	190	0.0368	30	c.731 others(49): Show c.731+11862_731+11863insACACACACACACACACACACACACAC ACAC		RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8						chr10	TogoVar
RTEL1_chr20_63653312_63701245	63693456	T T	TCCACCAC others(23): Show TCCACCACCTCCACCACCACCTCCACCACCA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	60	0.0167	30	c.299 others(47): Show c.2992+178_2992+179insACCTCCACCACCACCTCCACCACCACCA CC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693492	T T	TCCACCTC others(23): Show TCCACCTCCACCACCTCCACCACCACCTCCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	60	0.0167	30	c.299 others(47): Show c.2992+223_2992+224insTCCACCACCACCTCCACCACCTCCACCA CC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTL4_chrX_112078016_112462514	112161889	T T	TTTCTTTC others(23): Show TTTCTTTCTTTCTTTCTTTCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0108 a0002c0001t0001g0108	1	134	0.0075	30	c.-44 others(51): Show c.-445+30793_-445+30794insTCTTTCTTTCTTTCTTCTTTCTTT CTTCTT		RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112190176	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0070 a0002c0001t0001g0070	1	134	0.0075	30	c.-44 others(51): Show c.-445+59079_-445+59108dupCTTTCTTTCTTTCTTTCTTTCTTT CTTTTT		RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL9_chrX_110353848_110461334	110378008	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0132 a0001c0002t0006g0132	1	165	0.0061	30	c.-16 others(51): Show c.-168+19116_-168+19117insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		RTL9	ENSG00000243978.9	transcript	ENST00000520821.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59749190	A A	ATATATAT others(23): Show ATATATATCTATATATATATCTATATATATC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02630.hp1 others(6): Show HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03209.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(6): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0006c0008t0001g0170	9	172	0.0523	30	c.242 others(47): Show c.242-2739_242-2710dupGATATATATAGATATATATATAGATATA TA		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
RTN1_chr14_59590983_59875776	59749266	C C	CTATATAT others(23): Show CTATATATATCTATATATCTATATATATCTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	172	0.0058	30	c.242 others(47): Show c.242-2786_242-2785insTAGATATATATAGATATATAGATATATA TA		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
RTN1_chr14_59590983_59875776	59750514	A A	AATATATC others(23): Show AATATATCTATAATATATATATCTATAATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	172	0.0058	30	c.242 others(47): Show c.242-4034_242-4033insATATTATAGATATATATATTATAGATAT AT		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0111 a0002c0002t0006g0111	1	170	0.0059	30	c.142 others(47): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN4RL1_chr17_1929677_2030334	2013706	G G	GCCAGCTC others(23): Show GCCAGCTCCCTCACCCTGGAACATAAATACC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02723.hp2 others(4): Show HG02145.hp1 HG02572.hp2 HG02723.hp2 HG02976.hp2 HG03139.hp2 NA18522.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0069 a0001c0001t0086 a0001c0001t0111 others(4): Show a0001c0001t0069 a0001c0001t0086 a0001c0001t0111 a0001c0002t0004 a0001c0002t0036 a0002c0004t0010 a0002c0004t0035	a0001c0001t0069g0073 a0001c0001t0086g0043 a0001c0001t0111g0342 others(4): Show a0001c0001t0069g0073 a0001c0001t0086g0043 a0001c0001t0111g0342 a0001c0002t0004g0044 a0001c0002t0036g0218 a0002c0004t0010g0282 a0002c0004t0035g0252	7	384	0.0182	30	c.13+ others(47): Show c.13+11117_13+11146dupGGTATTTATGTTCCAGGGTGAGGGAGCT GG		RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1						chr17	TogoVar
RTP3_chr3_46492976_46505950	46493833	G G	GCTCTCCC others(23): Show GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18985.hp1 NA19082.hp2 NA18973.hp2 NA18985.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	426	0.0070	30	c.-42 others(41): Show c.-4230_-4229insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC		RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding					4142		chr3	TogoVar
RUBCNL_chr13_46329681_46392252	46362923	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18985.hp1 NA19058.hp2 NA18982.hp2 NA18985.hp1 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0002c0002t0005 a0001c0001t0028 a0002c0002t0005	a0001c0001t0028g0261 a0001c0001t0028g0287 a0002c0002t0005g0103 a0001c0001t0028g0261 a0001c0001t0028g0287 a0002c0002t0005g0103	3	356	0.0084	30	c.925 others(45): Show c.925+191_925+192insATATATATATATATATATATATATATATAT		RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14						chr13	TogoVar

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