Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results 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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RMDN2_chr2_37920287_38022744	37932862	AGGCTGAC others(42): Show AGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0111 a0001c0001t0015g0111	1	328	0.0031	-49	c.452 others(66): Show c.452+3163_452+3211delGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACG	RMDN2	ENSG00000115841.21	transcript	ENST00000354545.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
RMND1_chr6_151399762_151457126	151450529	TGGGGGGT others(42): Show TGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18983.hp1 NA18971.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	2	392	0.0051	-49	c.-15 others(66): Show c.-15+1438_-15+1486delCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCC	RMND1	ENSG00000155906.20	transcript	ENST00000444024.3	protein_coding	1/11			chr6	TogoVar
RNASE10_chr14_20500537_20518884	20506665	TGGGGGGT others(42): Show TGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01192.hp2 others(12): Show HG00642.hp2 HG00738.hp2 HG01192.hp2 HG01346.hp2 HG01361.hp2 HG01884.hp1 HG01943.hp1 HG01978.hp2 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02615.hp2 NA18951.hp1 NA19004.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0073 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0073 a0001c0001t0075	a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0146 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0146 a0001c0001t0007g0005 a0001c0001t0007g0081 a0001c0001t0007g0115 a0001c0001t0073g0218 a0001c0001t0075g0217	15	396	0.0379	-49	c.-6+ others(62): Show c.-6+702_-6+750delTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNASE10_chr14_20500537_20518884	20506770	GTCAGCCC others(42): Show GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGA	G G	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	396	0.0025	-49	c.-6+ others(62): Show c.-6+765_-6+813delCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNASE10_chr14_20500537_20518884	20506911	TGGCCAGC others(42): Show TGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCCGCCC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp2 HG02280.hp1 others(8): Show HG01261.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp2 HG02723.hp2 HG02886.hp2 HG03098.hp2 HG03471.hp1 HG03540.hp2 NA19030.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0039 a0001c0001t0085 a0001c0001t0086 others(8): Show a0001c0001t0039 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0108 a0004c0006t0039	a0001c0001t0039g0037 a0001c0001t0085g0225 a0001c0001t0086g0114 others(8): Show a0001c0001t0039g0037 a0001c0001t0085g0225 a0001c0001t0086g0114 a0001c0001t0087g0086 a0001c0001t0089g0087 a0001c0001t0090g0060 a0001c0001t0091g0182 a0001c0001t0092g0111 a0001c0001t0093g0110 a0001c0001t0108g0037 a0004c0006t0039g0112	11	396	0.0278	-49	c.-6+ others(62): Show c.-6+917_-6+965delGGGAGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF115_chr1_145733868_145829095	145766600	CGGGGCGG others(42): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp2 HG03098.hp1 HG01175.hp2 HG02055.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0104 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0104	3	272	0.0110	-49	c.428 others(66): Show c.428+5062_428+5110delATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCC	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	4/8			chr1	TogoVar
RNF135_chr17_30966039_31004911	30979664	ATCCCCCC others(42): Show ATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	266	0.0038	-49	c.373 others(66): Show c.373-4952_373-4904delTCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTG	RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	1/4			chr17	TogoVar
RNF135_chr17_30966039_31004911	30980039	CCCCCCAC others(42): Show CCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCAGGCGGGGGGCTGACT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02280.hp2 others(6): Show HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp1 HG02622.hp1 HG02717.hp2 HG02970.hp2 HG03486.hp1 NA21309.hp2	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0002 a0005c0005 a0008c0009 a0002c0002 a0005c0005 a0008c0009	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(2): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0005c0005t0001 a0008c0009t0003	a0002c0002t0001g0019 a0002c0002t0001g0062 a0002c0002t0003g0016 others(5): Show a0002c0002t0001g0019 a0002c0002t0001g0062 a0002c0002t0003g0016 a0002c0002t0004g0018 a0005c0005t0001g0002 a0005c0005t0001g0014 a0005c0005t0001g0015 a0008c0009t0003g0017	9	266	0.0338	-49	c.373 others(66): Show c.373-4562_373-4514delCGGACTGGGCGGCTGGCCAGGCGGGGGG CTGACTCCCCCACCTCCCTCC	RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF138_chr18_32086874_32136561	32131012	TGGGATTT others(42): Show TGGGATTTGCAAAGTTTAATACATCCAATATGTCAAGTTAAACCATTCTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0254 a0001c0001t0021g0254	1	362	0.0028	-49	c.18 others(60): Show c.1828_*1876delGATTTGCAAAGTTTAATACATCCAATATGTCAAG TTAAACCATTCTGGG	RNF138	ENSG00000134758.14	transcript	ENST00000261593.8	protein_coding	8/8	1828	INFO_REALIGN_3_PRIME	chr18	TogoVar
RNF144B_chr6_18382350_18473870	18469739	AACTAGAG others(42): Show AACTAGAGCTTGTGTTTCCATAAAACCGAAAGCTCACTCTCCTGTACTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0162 a0001c0001t0030g0162	1	386	0.0026	-49	c.46 others(60): Show c.4673_*4721delACTAGAGCTTGTGTTTCCATAAAACCGAAAGCTC ACTCTCCTGTACTGG	RNF144B	ENSG00000137393.10	transcript	ENST00000259939.4	protein_coding		870		chr6	TogoVar
RNF213_chr17_80255852_80403794	80313422	TGTGGAGG others(42): Show TGTGGAGGTGATGGTGATGGTTGGTGGTGGTGGTGGTAGAGGTGATGGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(90): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0050 a0051 a0052 a0053 a0054 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0071 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0090 a0091 a0093 a0094 a0095 a0097 a0098 a0099 a0100 a0101 a0102 a0103 a0104	a0001c0001 a0001c0003 a0001c0004 others(129): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0021 a0001c0029 a0001c0071 a0001c0072 a0001c0075 a0001c0076 a0001c0082 a0001c0094 a0001c0124 a0001c0125 a0001c0132 a0002c0002 a0002c0010 a0002c0027 a0002c0035 a0002c0039 a0002c0058 a0002c0060 a0002c0061 a0002c0099 a0002c0121 a0003c0005 a0003c0030 a0003c0074 a0003c0077 a0004c0009 a0004c0047 a0005c0007 a0005c0105 a0006c0011 a0006c0044 a0006c0045 a0007c0008 a0008c0013 a0008c0028 a0009c0016 a0009c0089 a0010c0017 a0011c0036 a0011c0037 a0012c0015 a0012c0123 a0013c0012 a0014c0020 a0014c0118 a0015c0018 a0016c0014 a0017c0019 a0018c0033 a0018c0108 a0019c0141 a0019c0142 a0020c0031 a0021c0032 a0022c0090 a0022c0126 a0023c0087 a0023c0088 a0024c0026 a0025c0038 a0026c0100 a0027c0025 a0028c0034 a0029c0024 a0030c0110 a0031c0023 a0032c0022 a0033c0143 a0034c0140 a0035c0139 a0036c0144 a0037c0145 a0041c0102 a0042c0103 a0043c0101 a0044c0097 a0045c0096 a0046c0129 a0047c0095 a0048c0091 a0050c0092 a0051c0135 a0052c0134 a0053c0136 a0054c0137 a0057c0050 a0058c0130 a0059c0064 a0060c0063 a0061c0122 a0062c0055 a0063c0052 a0064c0059 a0065c0062 a0066c0057 a0067c0056 a0068c0054 a0069c0065 a0071c0131 a0073c0069 a0074c0068 a0075c0070 a0076c0133 a0077c0081 a0078c0079 a0079c0078 a0080c0073 a0081c0083 a0082c0085 a0083c0084 a0084c0051 a0085c0086 a0086c0127 a0087c0098 a0088c0116 a0090c0114 a0091c0113 a0093c0106 a0094c0041 a0095c0040 a0097c0042 a0098c0109 a0099c0043 a0100c0046 a0101c0111 a0102c0128 a0103c0120 a0104c0119	a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 others(187): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 a0001c0001t0034 a0001c0001t0052 a0001c0001t0054 a0001c0003t0001 a0001c0003t0002 a0001c0003t0034 a0001c0004t0004 a0001c0004t0007 a0001c0004t0011 a0001c0004t0014 a0001c0004t0023 a0001c0004t0068 a0001c0004t0071 a0001c0004t0072 a0001c0006t0005 a0001c0006t0009 a0001c0006t0010 a0001c0006t0011 a0001c0021t0001 a0001c0021t0002 a0001c0029t0007 a0001c0029t0011 a0001c0071t0001 a0001c0072t0002 a0001c0075t0015 a0001c0076t0011 a0001c0082t0005 a0001c0094t0001 a0001c0124t0002 a0001c0125t0011 a0001c0132t0026 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0010 a0002c0002t0014 a0002c0002t0021 a0002c0002t0032 a0002c0002t0047 a0002c0002t0051 a0002c0010t0003 a0002c0010t0004 a0002c0010t0005 a0002c0010t0010 a0002c0027t0001 a0002c0035t0003 a0002c0035t0004 a0002c0039t0014 a0002c0058t0004 a0002c0060t0005 a0002c0061t0004 a0002c0099t0058 a0002c0121t0004 a0003c0005t0007 a0003c0005t0011 a0003c0005t0023 a0003c0005t0080 a0003c0030t0007 a0003c0074t0011 a0003c0077t0023 a0004c0009t0005 a0004c0009t0009 a0004c0009t0010 a0004c0009t0019 a0004c0047t0065 a0005c0007t0003 a0005c0007t0004 a0005c0007t0009 a0005c0105t0021 a0006c0011t0005 a0006c0011t0010 a0006c0011t0019 a0006c0044t0020 a0006c0045t0011 a0007c0008t0008 a0008c0013t0028 a0008c0013t0044 a0008c0028t0018 a0009c0016t0003 a0009c0016t0009 a0009c0016t0059 a0009c0089t0005 a0010c0017t0006 a0010c0017t0012 a0011c0036t0042 a0011c0036t0043 a0011c0037t0020 a0012c0015t0015 a0012c0015t0033 a0012c0123t0015 a0013c0012t0049 a0013c0012t0053 a0013c0012t0055 a0013c0012t0056 a0014c0020t0003 a0014c0020t0014 a0014c0118t0057 a0015c0018t0022 a0015c0018t0062 a0016c0014t0017 a0016c0014t0041 a0017c0019t0024 a0018c0033t0016 a0018c0108t0006 a0019c0141t0001 a0019c0142t0030 a0020c0031t0012 a0021c0032t0036 a0022c0090t0008 a0022c0126t0067 a0023c0087t0013 a0023c0088t0013 a0024c0026t0007 a0025c0038t0006 a0026c0100t0037 a0027c0025t0013 a0027c0025t0074 a0028c0034t0006 a0028c0034t0012 a0029c0024t0015 a0030c0110t0076 a0031c0023t0006 a0031c0023t0012 a0032c0022t0006 a0032c0022t0012 a0033c0143t0013 a0034c0140t0013 a0035c0139t0001 a0036c0144t0003 a0037c0145t0035 a0041c0102t0003 a0042c0103t0035 a0043c0101t0003 a0044c0097t0022 a0045c0096t0010 a0046c0129t0030 a0047c0095t0002 a0048c0091t0018 a0050c0092t0037 a0051c0135t0078 a0052c0134t0008 a0053c0136t0025 a0054c0137t0016 a0057c0050t0017 a0058c0130t0031 a0059c0064t0033 a0060c0063t0017 a0061c0122t0004 a0062c0055t0005 a0063c0052t0073 a0064c0059t0060 a0065c0062t0070 a0066c0057t0004 a0067c0056t0003 a0068c0054t0008 a0069c0065t0025 a0071c0131t0006 a0073c0069t0019 a0074c0068t0019 a0075c0070t0009 a0076c0133t0081 a0077c0081t0002 a0078c0079t0001 a0079c0078t0010 a0080c0073t0069 a0081c0083t0027 a0082c0085t0006 a0083c0084t0031 a0084c0051t0013 a0085c0086t0007 a0086c0127t0016 a0087c0098t0001 a0088c0116t0016 a0090c0114t0066 a0091c0113t0021 a0093c0106t0018 a0094c0041t0061 a0095c0040t0003 a0097c0042t0008 a0098c0109t0064 a0099c0043t0003 a0100c0046t0013 a0101c0111t0027 a0102c0128t0008 a0103c0120t0050 a0104c0119t0038	a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0112 others(257): Show a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0001g0226 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0002g0115 a0001c0001t0002g0124 a0001c0001t0002g0131 a0001c0001t0002g0139 a0001c0001t0002g0147 a0001c0001t0002g0157 a0001c0001t0002g0195 a0001c0001t0002g0227 a0001c0001t0002g0263 a0001c0001t0029g0079 a0001c0001t0034g0086 a0001c0001t0052g0054 a0001c0001t0054g0088 a0001c0003t0001g0036 a0001c0003t0001g0095 a0001c0003t0001g0108 a0001c0003t0001g0130 a0001c0003t0001g0142 a0001c0003t0001g0259 a0001c0003t0001g0271 a0001c0003t0002g0044 a0001c0003t0002g0072 a0001c0003t0002g0107 a0001c0003t0002g0109 a0001c0003t0002g0266 a0001c0003t0034g0004 a0001c0004t0004g0074 a0001c0004t0007g0047 a0001c0004t0007g0268 a0001c0004t0011g0048 a0001c0004t0014g0046 a0001c0004t0014g0053 a0001c0004t0014g0156 a0001c0004t0023g0106 a0001c0004t0068g0125 a0001c0004t0071g0066 a0001c0004t0072g0164 a0001c0006t0005g0161 a0001c0006t0009g0132 a0001c0006t0009g0181 a0001c0006t0010g0119 a0001c0006t0010g0144 a0001c0006t0011g0051 a0001c0021t0001g0063 a0001c0021t0001g0080 a0001c0021t0002g0069 a0001c0029t0007g0039 a0001c0029t0011g0041 a0001c0071t0001g0055 a0001c0072t0002g0038 a0001c0075t0015g0099 a0001c0076t0011g0216 a0001c0082t0005g0231 a0001c0094t0001g0162 a0001c0124t0002g0068 a0001c0125t0011g0071 a0001c0132t0026g0006 a0002c0002t0003g0087 a0002c0002t0003g0111 a0002c0002t0003g0143 a0002c0002t0003g0184 a0002c0002t0003g0194 a0002c0002t0003g0230 a0002c0002t0004g0117 a0002c0002t0004g0129 a0002c0002t0004g0145 a0002c0002t0004g0155 a0002c0002t0004g0183 a0002c0002t0005g0073 a0002c0002t0005g0182 a0002c0002t0009g0042 a0002c0002t0009g0105 a0002c0002t0010g0050 a0002c0002t0010g0113 a0002c0002t0010g0154 a0002c0002t0014g0120 a0002c0002t0021g0114 a0002c0002t0032g0001 a0002c0002t0047g0149 a0002c0002t0051g0256 a0002c0010t0003g0100 a0002c0010t0004g0077 a0002c0010t0004g0187 a0002c0010t0005g0186 a0002c0010t0010g0212 a0002c0027t0001g0102 a0002c0035t0003g0093 a0002c0035t0004g0094 a0002c0039t0014g0240 a0002c0058t0004g0219 a0002c0060t0005g0065 a0002c0061t0004g0190 a0002c0099t0058g0255 a0002c0121t0004g0067 a0003c0005t0007g0058 a0003c0005t0007g0274 a0003c0005t0011g0135 a0003c0005t0011g0253 a0003c0005t0023g0134 a0003c0005t0080g0052 a0003c0030t0007g0037 a0003c0030t0007g0049 a0003c0074t0011g0163 a0003c0077t0023g0056 a0004c0009t0005g0273 a0004c0009t0009g0043 a0004c0009t0009g0265 a0004c0009t0010g0057 a0004c0009t0019g0272 a0004c0047t0065g0150 a0005c0007t0003g0209 a0005c0007t0003g0235 a0005c0007t0004g0207 a0005c0007t0004g0211 a0005c0007t0009g0218 a0005c0105t0021g0270 a0006c0011t0005g0210 a0006c0011t0005g0224 a0006c0011t0010g0189 a0006c0011t0019g0229 a0006c0044t0020g0197 a0006c0045t0011g0202 a0007c0008t0008g0078 a0007c0008t0008g0286 a0008c0013t0028g0241 a0008c0013t0028g0250 a0008c0013t0044g0236 a0008c0028t0018g0244 a0009c0016t0003g0138 a0009c0016t0009g0103 a0009c0016t0059g0098 a0009c0089t0005g0104 a0010c0017t0006g0089 a0010c0017t0006g0090 a0010c0017t0012g0097 a0011c0036t0042g0281 a0011c0036t0043g0280 a0011c0037t0020g0282 a0011c0037t0020g0283 a0012c0015t0015g0200 a0012c0015t0015g0201 a0012c0015t0033g0188 a0012c0123t0015g0185 a0013c0012t0049g0217 a0013c0012t0053g0228 a0013c0012t0055g0225 a0013c0012t0056g0192 a0014c0020t0003g0002 a0014c0020t0003g0277 a0014c0020t0014g0257 a0014c0118t0057g0167 a0015c0018t0022g0025 a0015c0018t0022g0085 a0015c0018t0062g0024 a0016c0014t0017g0220 a0016c0014t0017g0221 a0016c0014t0041g0222 a0017c0019t0024g0017 a0017c0019t0024g0034 a0017c0019t0024g0278 a0018c0033t0016g0275 a0018c0108t0006g0083 a0019c0141t0001g0176 a0019c0142t0030g0178 a0020c0031t0012g0026 a0021c0032t0036g0021 a0021c0032t0036g0022 a0022c0090t0008g0092 a0022c0126t0067g0180 a0023c0087t0013g0213 a0023c0088t0013g0165 a0024c0026t0007g0140 a0024c0026t0007g0191 a0025c0038t0006g0007 a0025c0038t0006g0013 a0026c0100t0037g0254 a0027c0025t0013g0260 a0027c0025t0074g0262 a0028c0034t0006g0239 a0028c0034t0012g0237 a0029c0024t0015g0059 a0029c0024t0015g0060 a0030c0110t0076g0171 a0031c0023t0006g0248 a0031c0023t0012g0246 a0032c0022t0006g0169 a0032c0022t0012g0170 a0033c0143t0013g0177 a0034c0140t0013g0179 a0035c0139t0001g0284 a0036c0144t0003g0173 a0037c0145t0035g0174 a0041c0102t0003g0020 a0042c0103t0035g0018 a0043c0101t0003g0061 a0044c0097t0022g0027 a0045c0096t0010g0203 a0046c0129t0030g0009 a0047c0095t0002g0148 a0048c0091t0018g0289 a0050c0092t0037g0279 a0051c0135t0078g0016 a0052c0134t0008g0014 a0053c0136t0025g0011 a0054c0137t0016g0015 a0057c0050t0017g0223 a0058c0130t0031g0012 a0059c0064t0033g0136 a0060c0063t0017g0234 a0061c0122t0004g0075 a0062c0055t0005g0076 a0063c0052t0073g0242 a0064c0059t0060g0137 a0065c0062t0070g0127 a0066c0057t0004g0091 a0067c0056t0003g0152 a0068c0054t0008g0121 a0069c0065t0025g0029 a0071c0131t0006g0010 a0073c0069t0019g0151 a0074c0068t0019g0252 a0075c0070t0009g0123 a0076c0133t0081g0008 a0077c0081t0002g0269 a0078c0079t0001g0122 a0079c0078t0010g0251 a0080c0073t0069g0158 a0081c0083t0027g0116 a0082c0085t0006g0291 a0083c0084t0031g0159 a0084c0051t0013g0110 a0085c0086t0007g0204 a0086c0127t0016g0062 a0087c0098t0001g0285 a0088c0116t0016g0238 a0090c0114t0066g0258 a0091c0113t0021g0031 a0093c0106t0018g0032 a0094c0041t0061g0233 a0095c0040t0003g0196 a0097c0042t0008g0208 a0098c0109t0064g0084 a0099c0043t0003g0045 a0100c0046t0013g0198 a0101c0111t0027g0082 a0102c0128t0008g0168 a0103c0120t0050g0249 a0104c0119t0038g0247	261	292	0.8938	-49	c.281 others(66): Show c.2811+308_2811+356delGAGGTGATGGTGATGGTTGGTGGTGGTG GTGGTAGAGGTGATGGTGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF214_chr11_117227671_117291454	117251370	GGGCGGGG others(42): Show GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01257.hp1 others(18): Show HG00140.hp1 HG01070.hp1 HG01257.hp1 HG01258.hp1 HG04115.hp2 HG04204.hp2 NA18939.hp2 NA18945.hp1 NA18954.hp2 NA18959.hp2 NA18978.hp1 NA18982.hp2 NA18989.hp2 NA18995.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19010.hp1 NA19068.hp1 NA19074.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0082 a0001c0001t0001g0158 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0082 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0117 a0001c0001t0003g0307	21	360	0.0583	-49	c.959 others(66): Show c.959+4471_959+4519delTGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCC	RNF214	ENSG00000167257.11	transcript	ENST00000300650.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF214_chr11_117227671_117291454	117251419	TGGCGGGG others(42): Show TGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01070.hp2 others(31): Show HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01993.hp1 HG02074.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03669.hp1 HG03688.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp1 NA18979.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0046 others(29): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0075 a0001c0001t0004g0077 a0001c0001t0009g0076 a0001c0002t0001g0070	34	360	0.0944	-49	c.959 others(66): Show c.959+4572_959+4620delCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGG	RNF214	ENSG00000167257.11	transcript	ENST00000300650.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF4_chr4_2464106_2520857	2518539	GCCAGGCT others(42): Show GCCAGGCTGGTCTCGAACTCCTGACTGCAAGTGATCCACCCACCTCAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	378	0.0027	-49	c.47 others(60): Show c.4721_*4769delCCAGGCTGGTCTCGAACTCCTGACTGCAAGTGAT CCACCCACCTCAGCC	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2683		chr4	TogoVar
ROBO2_chr3_77035099_77654964	77164421	CGTCCGGG others(42): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCAGTGCT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	160	0.0063	-49	c.388 others(68): Show c.388+66117_388+66165delTGGCCAGCAGTGCTGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77164457	TGGCCAGC others(42): Show TGGCCAGCAGTGCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0002 a0009c0007t0002	a0009c0007t0002g0088 a0009c0007t0002g0088	1	160	0.0063	-49	c.388 others(68): Show c.388+66125_388+66173delAGTGCTGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROR2_chr9_91717601_91955228	91901912	GGTGTAGG others(42): Show GGTGTAGGTGGGGGGGCCTACCCTCAATTCTGGAGCAGCAGGCCAACAGA	G G	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0175 a0001c0023t0001g0175	1	226	0.0044	-49	c.97+ others(66): Show c.97+47906_97+47954delTCTGTTGGCCTGCTGCTCCAGAATTGAG GGTAGGCCCCCCCACCTACAC	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RPGRIP1L_chr16_53593153_53708859	53698680	CCCCCGCC others(42): Show CCCCCGCCCGGCCAGCCGCACCGCCCGGGAGGGAGGTGGGGGGGTCAGCA	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0001 a0010c0024t0001	a0010c0024t0001g0158 a0010c0024t0001g0158	1	364	0.0028	-49	c.85+ others(64): Show c.85+1910_85+1958delTGCTGACCCCCCCACCTCCCTCCCGGGCGG TGCGGCTGGCCGGGCGGGG	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	2/26			chr16	TogoVar
RPL11_chr1_23686806_23701835	23689071	GCAGCCGC others(42): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG00738.hp1 others(11): Show HG00423.hp1 HG00673.hp1 HG00738.hp1 HG01109.hp1 HG02040.hp1 HG02040.hp2 HG02165.hp1 HG02273.hp1 NA18612.hp2 NA18963.hp2 NA18998.hp1 NA19089.hp2 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 a0001c0001t0001 a0001c0001t0004 a0001c0003t0004	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0004g0006 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0004g0006 a0001c0003t0004g0006	14	388	0.0361	-49	c.-27 others(60): Show c.-2752_-2704delCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCAGC	RPL11	ENSG00000142676.14	transcript	ENST00000643754.2	protein_coding		2734		chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213151110	TGGGCGGG others(42): Show TGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	330	0.0030	-49	c.836 others(68): Show c.836-16698_836-16650delGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCC	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213152332	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGATGGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01071.hp1 others(7): Show HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG02129.hp1 HG03490.hp1 NA18956.hp1 NA19002.hp1 NA19065.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 others(7): Show a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015	10	330	0.0303	-49	c.836 others(68): Show c.836-15499_836-15451delCGGCTGATGGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGG	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPTOR_chr17_80539838_80971368	80876347	TCCACCGA others(42): Show TCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01074.hp1 others(22): Show HG00099.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01167.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG02109.hp2 HG02280.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0009 others(14): Show a0001c0004 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0016 a0001c0025 a0001c0031 a0001c0033 a0001c0037 a0001c0039 a0001c0041 a0001c0045 a0001c0048 a0001c0075 a0001c0088	a0001c0004t0014 a0001c0007t0069 a0001c0007t0084 others(19): Show a0001c0004t0014 a0001c0007t0069 a0001c0007t0084 a0001c0007t0090 a0001c0009t0012 a0001c0011t0047 a0001c0011t0062 a0001c0012t0018 a0001c0013t0013 a0001c0016t0029 a0001c0016t0031 a0001c0025t0051 a0001c0025t0052 a0001c0031t0027 a0001c0033t0098 a0001c0037t0053 a0001c0039t0061 a0001c0041t0004 a0001c0045t0091 a0001c0048t0073 a0001c0075t0012 a0001c0088t0007	a0001c0004t0014g0081 a0001c0004t0014g0098 a0001c0007t0069g0128 others(22): Show a0001c0004t0014g0081 a0001c0004t0014g0098 a0001c0007t0069g0128 a0001c0007t0084g0007 a0001c0007t0090g0025 a0001c0009t0012g0103 a0001c0011t0047g0076 a0001c0011t0062g0114 a0001c0012t0018g0194 a0001c0013t0013g0062 a0001c0013t0013g0065 a0001c0016t0029g0193 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0031t0027g0173 a0001c0033t0098g0026 a0001c0037t0053g0138 a0001c0039t0061g0177 a0001c0041t0004g0175 a0001c0045t0091g0036 a0001c0048t0073g0144 a0001c0075t0012g0127 a0001c0088t0007g0141	25	196	0.1276	-49	c.151 others(68): Show c.1510-3910_1510-3862delCGTGCCACGCAGGGTGTGTGTGTCGC CTGCCGTGTCTTCCCACCGAGCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80876505	CGTGCCAC others(42): Show CGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTCTTCCCACCGAGCCT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0073 a0001c0048t0073	a0001c0048t0073g0144 a0001c0048t0073g0144	1	196	0.0051	-49	c.151 others(68): Show c.1510-3878_1510-3830delTGTCTTCCCACCGAGCCTGTGCCACG CAGGGTGTGTGTGTCGCCTGCCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAGB_chrX_55712749_55763774	55748878	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	2	276	0.0073	-49	c.517 others(66): Show c.517-2211_517-2163delCGCCCCATCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGC	RRAGB	ENSG00000083750.13	transcript	ENST00000374941.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
RRAGB_chrX_55712749_55763774	55748896	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	276	0.0036	-49	c.517 others(66): Show c.517-2185_517-2137delGGTCAGCCCCCCGCCCGGCCAGCTGCCC CGTCCGGGAGGGAGGTGGGGG	RRAGB	ENSG00000083750.13	transcript	ENST00000374941.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
RRAGB_chrX_55712749_55763774	55748916	GGTCAGCC others(42): Show GGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	276	0.0036	-49	c.517 others(66): Show c.517-2173_517-2125delGCCCGGCCAGCTGCCCCGTCCGGGAGGG AGGTGGGGGAGTCAGCCCCCC	RRAGB	ENSG00000083750.13	transcript	ENST00000374941.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
RRM1_chr11_4089799_4143932	4137766	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCTGGGGGCTGACTCCCCAACCTC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02647.hp2 HG02886.hp1 others(2): Show HG01243.hp2 HG02647.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0002 a0001c0003t0004 a0002c0007t0002 a0001c0003t0002 a0001c0003t0004 a0002c0007t0002	a0001c0003t0002g0025 a0001c0003t0002g0093 a0001c0003t0004g0268 others(2): Show a0001c0003t0002g0025 a0001c0003t0002g0093 a0001c0003t0004g0268 a0002c0007t0002g0032 a0002c0007t0002g0033	5	368	0.0136	-49	c.219 others(66): Show c.2191-352_2191-304delTGGGGGCTGACTCCCCAACCTCCCTCCC GGACGGGGCGGCTGGCCGGGC	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RSPRY1_chr16_57181329_57245469	57200954	GGGGGGGG others(42): Show GGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	358	0.0028	-49	c.-15 others(68): Show c.-155-3543_-155-3495delGCTGACCCCCCCACCTCCCTCCCGGA CGGGCGGCTGGCCGGGCGGGGGG	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RTEL1_chr20_63653312_63701245	63677697	GCCTGTTG others(42): Show GCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03017.hp1 HG02630.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0002g0019 a0001c0001t0001g0041 a0001c0001t0002g0019	2	60	0.0333	-49	c.920 others(64): Show c.920-201_920-153delCTGTTGGTGGATTTGGCCTGCACGGATTCT GTGTGGCCTCTTCCTTCCC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTN4RL1_chr17_1929677_2030334	1931896	TACAAATA others(42): Show TACAAATAAACGCAGAGAAAGACTGCCTCCCTAGGTCAGCATAGAGTAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG03209.hp2 others(1): Show HG02647.hp1 HG02895.hp1 HG03209.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0044 a0001c0002t0043 a0001c0002t0044	a0001c0002t0043g0069 a0001c0002t0043g0244 a0001c0002t0044g0175 others(1): Show a0001c0002t0043g0069 a0001c0002t0043g0244 a0001c0002t0044g0175 a0001c0002t0044g0232	4	384	0.0104	-49	c.45 others(60): Show c.4551_*4599delCCTACTCTATGCTGACCTAGGGAGGCAGTCTTTC TCTGCGTTTATTTGT	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding		2780		chr17	TogoVar
RWDD2B_chr21_28999384_29024349	29011538	GGGGGGGG others(42): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	438	0.0023	-49	c.68- others(64): Show c.68-2966_68-2918delACCTCCCTCCCGGAAGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCC	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29011606	ACCCGGCC others(42): Show ACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	2	438	0.0046	-49	c.68- others(64): Show c.68-3034_68-2986delCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29011926	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGACCCGGCCAGCCGCGCCG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03453.hp1 HG02451.hp2 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0018 a0003c0006t0020 a0001c0001t0018 a0003c0006t0020	a0001c0001t0018g0168 a0003c0006t0020g0169 a0001c0001t0018g0168 a0003c0006t0020g0169	2	438	0.0046	-49	c.68- others(64): Show c.68-3354_68-3306delCGGCGCGGCTGGCCGGGTCGGGGGCTGACC CCCCCACCTCCCTCCCGGA	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RYR2_chr1_237037184_237838988	237281963	CGTTAGAA others(42): Show CGTTAGAACCCTGGTAACAGAGTATATACTACAGAGTGCCTGCTGCCACT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG03195.hp2 HG02451.hp2 HG02572.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0018 a0001c0045 a0001c0002 a0001c0018 a0001c0045	a0001c0002t0031 a0001c0018t0032 a0001c0045t0001 a0001c0002t0031 a0001c0018t0032 a0001c0045t0001	a0001c0002t0031g0033 a0001c0018t0032g0041 a0001c0045t0001g0073 a0001c0002t0031g0033 a0001c0018t0032g0041 a0001c0045t0001g0073	3	100	0.0300	-49	c.168 others(68): Show c.168+11362_168+11410delAACAGAGTATATACTACAGAGTGCCT GCTGCCACTGTTAGAACCCTGGT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33325053	TTTATGGG others(42): Show TTTATGGGACATACGTCTGCTCTACATATTATTGATACCAGTTTGATGAC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	154	0.0065	-49	c.51+ others(66): Show c.51+13959_51+14007delTATGGGACATACGTCTGCTCTACATATT ATTGATACCAGTTTGATGACT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
SAMD11_chr1_918923_949574	939436	CCCCCTCA others(42): Show CCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	434	0.0023	-49	c.119 others(64): Show c.1195+48_1195+96delGGTGAGGACCCACCCTGGCATGATCTCCCC TCATCACCTCCCCAGCCAC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668766	TCCCCTAC others(42): Show TCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTC	T T	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0033 a0002c0004t0002g0033	1	262	0.0038	-49	c.249 others(68): Show c.2495+1769_2495+1817delGAGATGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAGGGAGGGTAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668970	TTCCCTCT others(42): Show TTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0001 a0003c0028t0001	a0003c0028t0001g0085 a0003c0028t0001g0085	1	262	0.0038	-49	c.249 others(68): Show c.2495+1565_2495+1613delGGGTAAGGGGAGAGGGAGGGTGAGGG AGATGGAGGGTGAGGGAGAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669047	TACCCTCC others(42): Show TACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp2 HG01168.hp1 others(8): Show HG00733.hp2 HG01123.hp2 HG01168.hp1 HG01258.hp1 HG01346.hp1 HG02129.hp1 HG03017.hp2 NA18747.hp2 NA19005.hp1 NA19070.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0001c0027 a0002c0002 a0002c0010 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0006t0002 a0001c0007t0001 a0001c0027t0001 a0002c0002t0001 a0002c0010t0001 a0002c0012t0001	a0001c0001t0001g0152 a0001c0001t0001g0201 a0001c0001t0001g0204 others(8): Show a0001c0001t0001g0152 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0002g0211 a0001c0001t0009g0202 a0001c0006t0002g0217 a0001c0007t0001g0159 a0001c0027t0001g0105 a0002c0002t0001g0190 a0002c0010t0001g0140 a0002c0012t0001g0111	11	262	0.0420	-49	c.249 others(68): Show c.2495+1488_2495+1536delGAGGGAGAGGGAGGGTGAGGGGAGAT GGAGGGTGAGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SATL1_chrX_85087284_85248779	85088817	CAGTGAGC others(42): Show CAGTGAGCAAATTAGAAGAATAGGTTAGAAGAATAGGGTAGTAGATACTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(164): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0013	a0001c0001 a0001c0007 a0002c0002 others(9): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0007c0015 a0008c0011 a0009c0010 a0010c0009 a0011c0008 a0013c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0007t0001 a0002c0002t0003 a0003c0003t0001 a0004c0004t0002 a0006c0006t0001 a0007c0015t0002 a0008c0011t0001 a0009c0010t0001 a0010c0009t0001 a0011c0008t0001 a0013c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0060 others(162): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0003g0006 a0001c0001t0004g0047 a0001c0007t0001g0196 a0001c0007t0001g0197 a0002c0002t0003g0017 a0002c0002t0003g0018 a0003c0003t0001g0020 a0003c0003t0001g0064 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0072 a0003c0003t0001g0091 a0003c0003t0001g0106 a0003c0003t0001g0112 a0003c0003t0001g0135 a0003c0003t0001g0156 a0003c0003t0001g0157 a0004c0004t0002g0042 a0004c0004t0002g0049 a0004c0004t0002g0050 a0004c0004t0002g0051 a0004c0004t0002g0052 a0004c0004t0002g0053 a0004c0004t0002g0054 a0004c0004t0002g0055 a0004c0004t0002g0056 a0004c0004t0002g0057 a0004c0004t0002g0058 a0006c0006t0001g0226 a0006c0006t0001g0230 a0007c0015t0002g0048 a0008c0011t0001g0059 a0009c0010t0001g0151 a0010c0009t0001g0188 a0011c0008t0001g0200 a0013c0014t0001g0085	167	232	0.7198	-49	c.35 others(60): Show c.3525_*3573delCAGTATCTACTACCCTATTCTTCTAACCTATTCT TCTAATTTGCTCACT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		3466		chrX	TogoVar
SBNO2_chr19_1102638_1179268	1157321	GCCTCTGC others(42): Show GCCTCTGCCACGCAGCCCCGGAGACGCTCTCCCCACGCGGCCCCGGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0114 a0001c0001t0008g0114	1	203	0.0049	-49	c.-12 others(68): Show c.-126-2968_-126-2920delGTCTCCGGGGCCGCGTGGGGAGAGCG TCTCCGGGGCTGCGTGGCAGAGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78392018	GGAGAGAG others(42): Show GGAGAGAGAGGGAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp2 HG00323.hp1 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0026 a0001c0002t0004g0027	2	332	0.0060	-49	c.135 others(66): Show c.135+3106_135+3154delAGAGAGAGGGAGAGGGAGACCGTGGAAA GAGAGGGAGAGGGAGACCGTG	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCGB1C2_chr17_132569_144067	136275	ACCCTAAC others(42): Show ACCCTAACCCCTAACCCCTAACCAACCCTAACCCTAACCCTAACCCTAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG02257.hp2 HG02895.hp1 others(2): Show HG01168.hp2 HG02257.hp2 HG02895.hp1 HG03098.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0018	5	402	0.0124	-49	c.-13 others(60): Show c.-1315_-1267delCCCTAACCCCTAACCCCTAACCAACCCTAACCCT AACCCTAACCCTAAC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1293		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141238	ACATGGGG others(42): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0007 a0005c0008t0001g0007	1	402	0.0025	-49	c.22 others(60): Show c.2297_*2345delCATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATAGGGGGGC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2172		chr17	TogoVar
SCHIP1_chr3_159268244_159902359	159704891	TCTTTCTT others(42): Show TCTTTCTTTCTTTCTTTATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	100	0.0100	-49	c.64- others(66): Show c.64-59535_64-59487delATTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCCTTTCTTTCTTTCTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCML4_chr6_107697154_107829313	107803378	TGGGGGTC others(42): Show TGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG02965.hp1 others(1): Show HG02055.hp1 HG02922.hp1 HG02965.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0002t0010	a0001c0001t0001g0010 a0001c0001t0013g0011 a0001c0001t0014g0009 others(1): Show a0001c0001t0001g0010 a0001c0001t0013g0011 a0001c0001t0014g0009 a0001c0002t0010g0008	4	250	0.0160	-49	c.-60 others(68): Show c.-60+20699_-60+20747delCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGCGAGGGGCTGACCCCC	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1289798	CTCCGTCC others(42): Show CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0247 a0004c0008t0001g0247	1	290	0.0035	-49	c.166 others(66): Show c.1663-464_1663-416delGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289823	CCCCGTGT others(42): Show CCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19082.hp1 HG02976.hp2 NA19082.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0002 a0004c0008t0001 a0001c0001t0002 a0004c0008t0001	a0001c0001t0002g0228 a0004c0008t0001g0240 a0001c0001t0002g0228 a0004c0008t0001g0240	2	290	0.0069	-49	c.166 others(66): Show c.1663-434_1663-386delCCCGTCCCGTGTCCGTCCCCCGAGTCTC TGCTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289837	CCCGTCCC others(42): Show CCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0106 a0003c0004t0003g0106	1	290	0.0035	-49	c.166 others(66): Show c.1663-421_1663-373delCGTCCCCCGAGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRN1_chr7_29915109_29994801	29961743	ACCTCCCG others(42): Show ACCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA19030.hp2 HG03491.hp1 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0045 a0003c0003t0009g0079 a0003c0003t0009g0045 a0003c0003t0009g0079	2	274	0.0073	-49	c.160 others(66): Show c.160-6432_160-6384delGAGGTGGGGGGGTCAGCCCCCTGCCCGG CCAGCCGCCCCATCCGGGAGG	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	2/7			chr7	TogoVar

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