Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTPRA_chr20_2868481_3043669	2910143	CATATATA others(46): Show CATATATACTATACGTCATATATAATATGACGTATAGTATATATGATATA TGAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0293 a0002c0002t0001g0324 a0002c0002t0001g0293 a0002c0002t0001g0324	2	356	0.0056	-53	c.-12 others(74): Show c.-128-13051_-128-12999delCGTCATATATAATATGACGTATAG TATATATGATATATGATATATATACTATA	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRG_chr3_61556571_62302609	61818824	AAGTGAAA others(46): Show AAGTGAAATAGTGAAATAGTGAATAGTGAAATAGTGAATAGTGAAATAGT GAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01071.hp1 others(36): Show HG00280.hp2 HG00735.hp2 HG01071.hp1 HG01255.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02145.hp2 HG02258.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03831.hp2 HG04199.hp2 NA18522.hp1 NA18998.hp1 NA18998.hp2 NA19030.hp1 NA19087.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0008 others(8): Show a0001c0001 a0001c0005 a0001c0008 a0001c0014 a0001c0015 a0001c0019 a0002c0002 a0002c0003 a0003c0004 a0003c0012 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0005t0009 a0001c0008t0005 a0001c0014t0015 a0001c0015t0001 a0001c0019t0001 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0008 a0003c0004t0007 a0003c0012t0012 a0004c0006t0001 a0004c0006t0002	a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0044 others(36): Show a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0002g0010 a0001c0001t0002g0035 a0001c0001t0002g0047 a0001c0001t0002g0062 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0003g0012 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0007g0083 a0001c0001t0010g0087 a0001c0005t0009g0022 a0001c0008t0005g0030 a0001c0008t0005g0068 a0001c0014t0015g0005 a0001c0015t0001g0011 a0001c0019t0001g0069 a0002c0002t0001g0064 a0002c0002t0002g0046 a0002c0002t0002g0051 a0002c0002t0002g0078 a0002c0003t0001g0067 a0002c0003t0002g0052 a0002c0003t0002g0061 a0002c0003t0002g0075 a0002c0003t0008g0016 a0003c0004t0007g0076 a0003c0012t0012g0049 a0004c0006t0001g0027 a0004c0006t0002g0088	39	94	0.4149	-53	c.190 others(72): Show c.190+69857_190+69909delATAGTGAATAGTGAAATAGTGAATAG TGAAATAGTGAATAGTGAAATAGTGAA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTTG1IP2_chr7_90464639_90518397	90498258	CTCATGAG others(46): Show CTCATGAGAATCCCTTTATTACTATATTATAACCATAAAATGGTAGCAGT AGGT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	384	0.0026	-53	c.50 others(70): Show c.50+3831_*50+3883delATGAGAATCCCTTTATTACTATATTATA ACCATAAAATGGTAGCAGTAGGTTC	PTTG1IP2	ENSG00000251154.2	transcript	ENST00000509356.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
RAB3GAP1_chr2_135047292_135175710	135141874	CTATTTCT others(46): Show CTATTTCTGGACTATTTATTCTGTTCCGTTGGTCTCTGTCGTGTGCCAGT AATG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	280	0.0036	-53	c.192 others(72): Show c.1923+5945_1923+5997delTTTCTGGACTATTTATTCTGTTCCGT TGGTCTCTGTCGTGTGCCAGTAATGTA	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
RB1_chr13_48298751_48486890	48427566	TTGGGGAG others(46): Show TTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACCTCTCCTCCA GCAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00673.hp1 others(26): Show HG00323.hp2 HG00558.hp1 HG00673.hp1 HG01167.hp2 HG01192.hp2 HG01255.hp2 HG01361.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG02056.hp1 HG02074.hp1 HG02148.hp2 HG02615.hp1 HG03579.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18952.hp1 NA18961.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp2 NA19012.hp1 NA19081.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 others(25): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0180 a0001c0001t0001g0289 a0001c0001t0003g0002 a0001c0001t0003g0121	29	306	0.0948	-53	c.169 others(74): Show c.1696-25384_1696-25332delTCCTCCAGCACTGGGGAGCACACT TCAACACGAGTCATCTTCTACCAAACCTC	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RB1_chr13_48298751_48486890	48427725	TTGGGGAG others(46): Show TTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACCTCACCTCCA GCAC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	306	0.0033	-53	c.169 others(74): Show c.1696-25044_1696-24992delCTTCAACACGAGTCATCTTCTACC AAACCTCACCTCCAGCACTGGGGAGCACA	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RB1_chr13_48298751_48486890	48427990	CTGGGGAG others(46): Show CTGGGGAGCACATTTCAACACGAGTCATCTTCTACCAAACCTCACCTCCA GCAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp1 others(109): Show HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02922.hp1 HG03139.hp1 HG03195.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03942.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18987.hp1 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19083.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(108): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0206 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0003g0120 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0250 a0001c0001t0006g0290 a0001c0001t0006g0291 a0001c0004t0001g0074	112	306	0.3660	-53	c.169 others(74): Show c.1696-24572_1696-24520delGCACATTTCAACACGAGTCATCTT CTACCAAACCTCACCTCCAGCATTGGGGA	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RBBP8NL_chr20_62405237_62432539	62417505	AGCCCCCC others(46): Show AGCCCCCCCAGTCATCTGCACGCTCCTCTGTGACGTCTGTCCCGTCCACG CAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(207): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0013 a0015 a0017 a0018 a0023	a0001c0001 a0001c0011 a0001c0024 others(13): Show a0001c0001 a0001c0011 a0001c0024 a0001c0027 a0002c0002 a0002c0009 a0003c0003 a0005c0005 a0007c0007 a0008c0010 a0009c0008 a0013c0015 a0015c0016 a0017c0021 a0018c0020 a0023c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0024 a0001c0001t0027 a0001c0011t0003 a0001c0024t0005 a0001c0027t0002 a0002c0002t0001 a0002c0009t0001 a0003c0003t0002 a0003c0003t0017 a0003c0003t0018 a0003c0003t0022 a0005c0005t0002 a0005c0005t0007 a0007c0007t0002 a0008c0010t0006 a0009c0008t0002 a0013c0015t0002 a0015c0016t0001 a0017c0021t0001 a0018c0020t0002 a0023c0035t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(130): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0239 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0002g0124 a0001c0001t0002g0151 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0214 a0001c0001t0002g0231 a0001c0001t0002g0242 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0002g0296 a0001c0001t0003g0042 a0001c0001t0003g0106 a0001c0001t0003g0150 a0001c0001t0003g0178 a0001c0001t0003g0275 a0001c0001t0003g0281 a0001c0001t0018g0299 a0001c0001t0024g0105 a0001c0001t0027g0298 a0001c0011t0003g0293 a0001c0024t0005g0264 a0001c0027t0002g0215 a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0017 a0002c0002t0001g0035 a0002c0002t0001g0104 a0002c0002t0001g0123 a0002c0002t0001g0134 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0271 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0009t0001g0100 a0002c0009t0001g0108 a0003c0003t0002g0014 a0003c0003t0002g0041 a0003c0003t0002g0086 a0003c0003t0002g0097 a0003c0003t0002g0102 a0003c0003t0002g0125 a0003c0003t0002g0133 a0003c0003t0002g0149 a0003c0003t0002g0208 a0003c0003t0002g0213 a0003c0003t0002g0284 a0003c0003t0002g0288 a0003c0003t0017g0050 a0003c0003t0018g0300 a0003c0003t0022g0137 a0005c0005t0002g0294 a0005c0005t0007g0173 a0007c0007t0002g0161 a0008c0010t0006g0016 a0008c0010t0006g0269 a0009c0008t0002g0025 a0013c0015t0002g0040 a0013c0015t0002g0132 a0015c0016t0001g0272 a0015c0016t0001g0273 a0017c0021t0001g0270 a0018c0020t0002g0099 a0023c0035t0001g0169	210	432	0.4861	-53	c.105 others(68): Show c.105-239_105-187delGTTGCGTGGACGGGACAGACGTCACAGAGG AGCGTGCAGATGACTGGGGGGGC	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	3/13			chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62417853	CACGTCTG others(46): Show CACGTCTGTCCTGTCCACGCAACGCCCCCCCAGTCATCTGCACGCTCCTC TGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(197): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0013 a0015 a0017 a0018 a0023	a0001c0001 a0001c0011 a0001c0024 others(13): Show a0001c0001 a0001c0011 a0001c0024 a0001c0027 a0002c0002 a0002c0009 a0003c0003 a0005c0005 a0007c0007 a0008c0010 a0009c0008 a0013c0015 a0015c0016 a0017c0021 a0018c0020 a0023c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0024 a0001c0001t0027 a0001c0011t0003 a0001c0024t0005 a0001c0027t0002 a0002c0002t0001 a0002c0009t0001 a0003c0003t0002 a0003c0003t0017 a0003c0003t0018 a0003c0003t0022 a0005c0005t0002 a0005c0005t0007 a0007c0007t0002 a0008c0010t0006 a0009c0008t0002 a0013c0015t0002 a0015c0016t0001 a0017c0021t0001 a0018c0020t0002 a0023c0035t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(121): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0239 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0002g0124 a0001c0001t0002g0151 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0214 a0001c0001t0002g0231 a0001c0001t0002g0242 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0002g0296 a0001c0001t0003g0042 a0001c0001t0003g0058 a0001c0001t0003g0106 a0001c0001t0003g0150 a0001c0001t0003g0178 a0001c0001t0003g0275 a0001c0001t0003g0281 a0001c0001t0018g0299 a0001c0001t0024g0105 a0001c0001t0027g0298 a0001c0011t0003g0293 a0001c0024t0005g0264 a0001c0027t0002g0215 a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0017 a0002c0002t0001g0035 a0002c0002t0001g0104 a0002c0002t0001g0123 a0002c0002t0001g0134 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0174 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0009t0001g0100 a0002c0009t0001g0108 a0003c0003t0002g0014 a0003c0003t0002g0041 a0003c0003t0002g0086 a0003c0003t0002g0097 a0003c0003t0002g0102 a0003c0003t0002g0133 a0003c0003t0002g0149 a0003c0003t0002g0208 a0003c0003t0002g0213 a0003c0003t0002g0284 a0003c0003t0002g0288 a0003c0003t0017g0050 a0003c0003t0018g0300 a0003c0003t0022g0137 a0005c0005t0002g0294 a0005c0005t0007g0173 a0007c0007t0002g0161 a0008c0010t0006g0016 a0008c0010t0006g0269 a0009c0008t0002g0025 a0013c0015t0002g0040 a0015c0016t0001g0272 a0015c0016t0001g0273 a0017c0021t0001g0270 a0018c0020t0002g0099 a0023c0035t0001g0169	200	432	0.4630	-53	c.104 others(68): Show c.104+517_105-535delCACAGAGGAGCGTGCAGATGACTGGGGGGG CGTTGCGTGGACAGGACAGACGT	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	3/13			chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62417927	ACGCCCCC others(46): Show ACGCCCCCCCAGTCATCTGCACGCTCCTCTGTGACGTCTGTCCTGTCCAC ACAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03130.hp1 HG03195.hp2 others(2): Show HG02647.hp1 HG03130.hp1 HG03195.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0013 a0001c0011t0026 a0001c0001t0001 a0001c0001t0013 a0001c0011t0026	a0001c0001t0001g0054 a0001c0001t0013g0065 a0001c0001t0013g0295 others(1): Show a0001c0001t0001g0054 a0001c0001t0013g0065 a0001c0001t0013g0295 a0001c0011t0026g0210	5	432	0.0116	-53	c.104 others(68): Show c.104+443_104+495delGTGTGTGGACAGGACAGACGTCACAGAGGA GCGTGCAGATGACTGGGGGGGCG	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	3/13			chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6636760	TATATATA others(46): Show TATATATAATATATAATATATATAATATATAATATATGTTATATATAATA TATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(34): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00609.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG02148.hp1 HG02148.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03540.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 NA18522.hp1 NA18994.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0002t0028 a0001c0002t0038 a0001c0004t0001 a0003c0005t0003	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0053 others(34): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0044 a0001c0001t0003g0010 a0001c0001t0003g0041 a0001c0001t0004g0033 a0001c0001t0004g0057 a0001c0001t0005g0058 a0001c0001t0005g0066 a0001c0001t0006g0038 a0001c0001t0007g0039 a0001c0001t0010g0037 a0001c0001t0014g0046 a0001c0001t0015g0045 a0001c0001t0016g0011 a0001c0001t0017g0014 a0001c0001t0018g0052 a0001c0001t0020g0002 a0001c0001t0021g0062 a0001c0001t0024g0008 a0001c0001t0027g0042 a0001c0001t0029g0001 a0001c0001t0032g0068 a0001c0001t0033g0027 a0001c0001t0035g0065 a0001c0001t0037g0029 a0001c0002t0028g0031 a0001c0002t0038g0023 a0001c0004t0001g0060 a0003c0005t0003g0043	37	68	0.5441	-53	c.-63 others(72): Show c.-63-17829_-63-17777delAATATATATAATATATAATATATGTT ATATATAATATATAATATATAATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6780357	ATATACAT others(46): Show ATATACATATTTATAGATATATTTATACATATTATATATATTTTTATATA TATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG01099.hp1 others(1): Show HG00280.hp2 HG00609.hp2 HG01099.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0035 a0001c0001t0001 a0001c0001t0017 a0001c0001t0035	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0017g0014 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0017g0014 a0001c0001t0035g0065	4	68	0.0588	-53	c.-16 others(74): Show c.-16+125712_-16+125764delCATATTTATAGATATATTTATACA TATTATATATATTTTTATATATATTTATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM20_chr10_110639336_110844468	110720637	GTCCCACC others(46): Show GTCCCACCCTGCCCCTGCAGCCTGATCTCCTAACCCTCATCCTTGCAGTG TCCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00609.hp1 others(82): Show HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18957.hp1 NA18964.hp1 NA18965.hp2 NA18983.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19066.hp2 NA19074.hp1 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0007 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0003 a0002c0002 others(10): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0003c0005 a0005c0006 a0006c0024 a0007c0018 a0012c0013 a0013c0014 a0014c0017 a0015c0011 a0016c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0019 a0002c0004t0001 a0002c0004t0003 a0002c0004t0005 a0003c0005t0005 a0003c0005t0006 a0005c0006t0001 a0006c0024t0001 a0007c0018t0003 a0012c0013t0018 a0013c0014t0001 a0014c0017t0020 a0015c0011t0002 a0016c0016t0005	a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0130 others(82): Show a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0130 a0001c0001t0001g0142 a0001c0001t0001g0175 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0169 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0240 a0001c0001t0004g0113 a0001c0001t0004g0122 a0001c0001t0004g0199 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0026 a0001c0003t0001g0031 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0266 a0001c0003t0002g0005 a0001c0003t0002g0008 a0001c0003t0002g0021 a0001c0003t0002g0028 a0001c0003t0002g0039 a0001c0003t0002g0047 a0001c0003t0002g0057 a0001c0003t0004g0004 a0001c0003t0004g0007 a0001c0003t0004g0020 a0001c0003t0004g0024 a0002c0002t0001g0084 a0002c0002t0001g0099 a0002c0002t0001g0134 a0002c0002t0001g0212 a0002c0002t0003g0224 a0002c0002t0003g0236 a0002c0002t0003g0239 a0002c0002t0005g0093 a0002c0002t0007g0190 a0002c0002t0007g0225 a0002c0002t0019g0002 a0002c0004t0001g0025 a0002c0004t0001g0032 a0002c0004t0001g0037 a0002c0004t0001g0040 a0002c0004t0001g0050 a0002c0004t0001g0054 a0002c0004t0003g0009 a0002c0004t0003g0029 a0002c0004t0003g0030 a0002c0004t0005g0041 a0003c0005t0005g0184 a0003c0005t0005g0202 a0003c0005t0006g0260 a0005c0006t0001g0048 a0006c0024t0001g0187 a0007c0018t0003g0258 a0012c0013t0018g0006 a0013c0014t0001g0027 a0014c0017t0020g0111 a0015c0011t0002g0036 a0016c0016t0005g0249	85	268	0.3172	-53	c.192 others(72): Show c.192-60140_192-60088delATCTCCTAACCCTCATCCTTGCAGTG TCCATCCCACCCTGCCCCTGCAGCCTG	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM33_chr7_155639661_155786480	155786150	ATCTTCTC others(46): Show ATCTTCTCATATGCTTGTGGGTCATTTGTTTATCTTCTGTGGAGAAACAC CTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0114 a0002c0001t0002g0114	1	306	0.0033	-53	c.11 others(66): Show c.11110_*11162delTCTTCTCATATGCTTGTGGGTCATTTGTTTAT CTTCTGTGGAGAAACACCTAT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding		4671		chr7	TogoVar
RCSD1_chr1_167625232_167713696	167693872	TTTTGGAA others(46): Show TTTTGGAATGCAGCCTGTGGCAAGCCAGGTAGCAGAGGAGGATAGAGTAG GCAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0011 a0006c0012t0011	a0006c0012t0011g0234 a0006c0012t0011g0234	1	350	0.0029	-53	c.271 others(68): Show c.271-225_271-173delTTGGAATGCAGCCTGTGGCAAGCCAGGTAG CAGAGGAGGATAGAGTAGGCAAT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RDH13_chr19_55039316_55068148	55053246	CGATCTTC others(46): Show CGATCTTCACTATTTTTAAATCCACTGCTGTCTTTATTCCTGGCTGTTGA TCTT	C C	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0199 a0001c0001t0016g0199	1	377	0.0027	-53	c.340 others(70): Show c.340+3354_340+3406delAAGATCAACAGCCAGGAATAAAGACAGC AGTGGATTTAAAAATAGTGAAGATC	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding	3/6			chr19	TogoVar
REEP1_chr2_86208993_86342626	86340947	TGGGATTA others(46): Show TGGGATTACAGGTGTGAGCCACCGTGCCCGGCAAGAAGCAACTGTTTTTA AGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0088 a0001c0001t0012g0088	1	320	0.0031	-53	c.-34 others(64): Show c.-3490_-3438delTGCTTAAAAACAGTTGCTTCTTGCCGGGCACGGT GGCTCACACCTGTAATCCC	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding		3322		chr2	TogoVar
RELL1_chr4_37605634_37691376	37669153	CGGCCAGC others(46): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCT GCCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG02135.hp1 others(1): Show HG01081.hp2 HG02055.hp1 HG02135.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0065	a0001c0001t0001g0237 a0001c0001t0005g0253 a0001c0001t0008g0257 others(1): Show a0001c0001t0001g0237 a0001c0001t0005g0253 a0001c0001t0008g0257 a0001c0001t0065g0145	4	324	0.0124	-53	c.88+ others(70): Show c.88+16994_88+17046delAGGCAGGGGGCTGACCCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCC	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
RETREG1_chr5_16468053_16621997	16525257	GGCCCCAA others(46): Show GGCCCCAACAGGTGGATGTGCGCGGGGGGACACTGTGCTGATTTGCGTCC TCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(67): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00639.hp2 HG00673.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01928.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02486.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02965.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18942.hp2 NA18950.hp2 NA18955.hp1 NA18957.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19043.hp2 NA19056.hp1 NA19065.hp2 NA19067.hp2 NA19080.hp2 NA19083.hp1 NA19086.hp1 NA19090.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0011 a0002c0003 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0002t0002 a0001c0002t0004 a0001c0002t0013 a0001c0010t0003 a0001c0011t0003 a0002c0003t0005 a0002c0003t0012 a0005c0009t0002	a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0137 others(67): Show a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0234 a0001c0001t0003g0026 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0105 a0001c0001t0003g0132 a0001c0001t0003g0147 a0001c0001t0003g0155 a0001c0001t0003g0184 a0001c0001t0003g0221 a0001c0001t0003g0224 a0001c0001t0008g0249 a0001c0001t0010g0162 a0001c0002t0002g0011 a0001c0002t0002g0019 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0049 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0079 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0138 a0001c0002t0002g0145 a0001c0002t0002g0157 a0001c0002t0002g0177 a0001c0002t0002g0181 a0001c0002t0002g0205 a0001c0002t0002g0209 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0004g0254 a0001c0002t0004g0261 a0001c0002t0004g0265 a0001c0002t0004g0266 a0001c0002t0004g0275 a0001c0002t0004g0276 a0001c0002t0004g0279 a0001c0002t0013g0148 a0001c0010t0003g0140 a0001c0011t0003g0146 a0002c0003t0005g0054 a0002c0003t0005g0102 a0002c0003t0005g0144 a0002c0003t0005g0153 a0002c0003t0005g0160 a0002c0003t0005g0171 a0002c0003t0012g0253 a0002c0003t0012g0289 a0005c0009t0002g0188	70	294	0.2381	-53	c.458 others(72): Show c.458+40453_458+40505delTGGAGGACGCAAATCAGCACAGTGTC CCCCCGCGCACATCCACCTGTTGGGGC	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RGS12_chr4_3288021_3444913	3309063	AGAGGAGC others(46): Show AGAGGAGCTGGGACTCGGGAATGGCAGGTGTCTGCTGAGGGGAACCGTGT TGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp1 others(49): Show HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG02074.hp1 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG03491.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 NA18939.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18957.hp2 NA18960.hp2 NA18965.hp1 NA18973.hp2 NA18980.hp1 NA18986.hp2 NA18990.hp1 NA18998.hp1 NA19000.hp1 NA19009.hp1 NA19010.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19070.hp1 NA19081.hp2 NA19090.hp1 NA19091.hp1	a0001 a0002 a0021 others(1): Show a0001 a0002 a0021 a0022	a0001c0001 a0001c0007 a0001c0013 others(6): Show a0001c0001 a0001c0007 a0001c0013 a0001c0021 a0001c0031 a0002c0018 a0002c0026 a0021c0034 a0022c0035	a0001c0001t0001 a0001c0007t0001 a0001c0013t0001 others(7): Show a0001c0001t0001 a0001c0007t0001 a0001c0013t0001 a0001c0021t0001 a0001c0021t0006 a0001c0031t0001 a0002c0018t0001 a0002c0026t0001 a0021c0034t0001 a0022c0035t0001	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0034 others(49): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0165 a0001c0007t0001g0024 a0001c0007t0001g0025 a0001c0007t0001g0032 a0001c0007t0001g0033 a0001c0007t0001g0036 a0001c0007t0001g0046 a0001c0007t0001g0048 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0007t0001g0052 a0001c0007t0001g0073 a0001c0007t0001g0085 a0001c0013t0001g0065 a0001c0013t0001g0066 a0001c0013t0001g0067 a0001c0013t0001g0068 a0001c0013t0001g0069 a0001c0013t0001g0070 a0001c0013t0001g0071 a0001c0021t0001g0022 a0001c0021t0006g0047 a0001c0031t0001g0035 a0002c0018t0001g0044 a0002c0018t0001g0045 a0002c0026t0001g0027 a0002c0026t0001g0080 a0021c0034t0001g0037 a0022c0035t0001g0091	52	312	0.1667	-53	c.-10 others(72): Show c.-101-6808_-101-6756delGGAACCGTGTTGAGGAGGAGCTGGGA CTCGGGAATGGCAGGTGTCTGCTGAGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3309288	CTCGGGAA others(46): Show CTCGGGAATGGCAGGTGTCTGCTGAGGAGAACCGGGTGGGAGAGGAGCTG GGAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG01981.hp1 others(10): Show HG01167.hp1 HG01243.hp2 HG01981.hp1 HG02145.hp2 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG03098.hp2 HG03471.hp1 HG03579.hp1 NA19030.hp2 NA19043.hp1 NA19080.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0012 others(3): Show a0001c0001 a0001c0002 a0005c0012 a0005c0051 a0005c0052 a0005c0054	a0001c0001t0001 a0001c0002t0001 a0005c0012t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0005c0012t0001 a0005c0051t0001 a0005c0052t0001 a0005c0054t0001	a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0002t0001g0242 others(10): Show a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0002t0001g0242 a0005c0012t0001g0151 a0005c0012t0001g0152 a0005c0012t0001g0155 a0005c0012t0001g0156 a0005c0012t0001g0157 a0005c0012t0001g0158 a0005c0012t0001g0160 a0005c0051t0001g0153 a0005c0052t0001g0159 a0005c0054t0001g0154	13	312	0.0417	-53	c.-10 others(72): Show c.-101-6781_-101-6729delTCGGGAATGGCAGGTGTCTGCTGAGG AGAACCGGGTGGGAGAGGAGCTGGGAT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RGS12_chr4_3288021_3444913	3309521	TCTGAGGA others(46): Show TCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGGCCTGGGAATGGCAGGTG TCTG	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG04199.hp1 NA18946.hp1 others(1): Show HG01978.hp2 HG04199.hp1 NA18946.hp1 NA19000.hp2	a0001 a0013 a0001 a0013	a0001c0006 a0001c0010 a0013c0045 a0001c0006 a0001c0010 a0013c0045	a0001c0006t0001 a0001c0010t0001 a0013c0045t0001 a0001c0006t0001 a0001c0010t0001 a0013c0045t0001	a0001c0006t0001g0191 a0001c0010t0001g0170 a0001c0010t0001g0199 others(1): Show a0001c0006t0001g0191 a0001c0010t0001g0170 a0001c0010t0001g0199 a0013c0045t0001g0166	4	312	0.0128	-53	c.-10 others(72): Show c.-101-6542_-101-6490delAGAGCTGAGCAGGAGAGGAGCTGGGG CCTGGGAATGGCAGGTGTCTGCTGAGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3309541	AGAGGAGC others(46): Show AGAGGAGCTGGGGCCTGGGAATGGCAGGTGTCTGCTGAGGGGAACTGTGT TGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00438.hp2 others(67): Show HG00140.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG02109.hp2 HG02148.hp2 HG02257.hp2 HG02615.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19080.hp1 NA19081.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0002 a0001c0003 a0001c0004 others(9): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0014 a0001c0020 a0002c0011 a0002c0022 a0008c0030 a0010c0032	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(10): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0009t0001 a0001c0014t0001 a0001c0020t0001 a0002c0011t0004 a0002c0022t0001 a0002c0022t0004 a0008c0030t0005 a0010c0032t0001	a0001c0002t0001g0100 a0001c0002t0001g0145 a0001c0002t0001g0267 others(67): Show a0001c0002t0001g0100 a0001c0002t0001g0145 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0275 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0301 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0004t0001g0101 a0001c0004t0001g0167 a0001c0004t0001g0268 a0001c0005t0001g0021 a0001c0005t0001g0114 a0001c0005t0001g0115 a0001c0005t0001g0116 a0001c0005t0001g0118 a0001c0005t0001g0119 a0001c0005t0001g0121 a0001c0005t0001g0122 a0001c0005t0001g0127 a0001c0005t0001g0128 a0001c0005t0001g0147 a0001c0006t0001g0194 a0001c0009t0001g0017 a0001c0009t0001g0113 a0001c0009t0001g0117 a0001c0009t0001g0120 a0001c0009t0001g0197 a0001c0014t0001g0029 a0001c0014t0001g0108 a0001c0014t0001g0129 a0001c0014t0001g0130 a0001c0014t0001g0134 a0001c0014t0001g0274 a0001c0014t0001g0300 a0001c0020t0001g0131 a0001c0020t0001g0261 a0001c0020t0001g0262 a0001c0020t0001g0263 a0002c0011t0004g0222 a0002c0022t0001g0112 a0002c0022t0001g0291 a0002c0022t0004g0111 a0008c0030t0005g0141 a0008c0030t0005g0142 a0010c0032t0001g0196	70	312	0.2244	-53	c.-10 others(72): Show c.-101-6517_-101-6465delGCCTGGGAATGGCAGGTGTCTGCTGA GGGGAACTGTGTTGAGGAGGAGCTGGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3309662	CTGGAATG others(46): Show CTGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTGGG ACCT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03239.hp2 HG02602.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0283 a0001c0003t0001g0284	2	312	0.0064	-53	c.-10 others(72): Show c.-101-6407_-101-6355delTGGAATGGCAGGTGTCCGCTGAGGGG AACCGTGCAGGGGAGGAGCTGGGACCT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RGS12_chr4_3288021_3444913	3310103	TCTGAGGA others(46): Show TCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGGCCTGGGAATGGCAGGTG TCTG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG02145.hp2 others(7): Show HG01167.hp1 HG01243.hp2 HG02145.hp2 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG03098.hp2 HG03471.hp1 HG03579.hp1 NA19030.hp2	a0005 a0005	a0005c0012 a0005c0051 a0005c0052 others(1): Show a0005c0012 a0005c0051 a0005c0052 a0005c0054	a0005c0012t0001 a0005c0051t0001 a0005c0052t0001 others(1): Show a0005c0012t0001 a0005c0051t0001 a0005c0052t0001 a0005c0054t0001	a0005c0012t0001g0151 a0005c0012t0001g0152 a0005c0012t0001g0155 others(7): Show a0005c0012t0001g0151 a0005c0012t0001g0152 a0005c0012t0001g0155 a0005c0012t0001g0156 a0005c0012t0001g0157 a0005c0012t0001g0158 a0005c0012t0001g0160 a0005c0051t0001g0153 a0005c0052t0001g0159 a0005c0054t0001g0154	10	312	0.0321	-53	c.-10 others(72): Show c.-101-5960_-101-5908delAGAGCTGAGCAGGAGAGGAGCTGGGG CCTGGGAATGGCAGGTGTCTGCTGAGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3440721	CCCCCAGG others(46): Show CCCCCAGGGCCCACCATGACCTCCCCCCCAACCCCCAACCCCCCATTCAC CGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG01975.hp1 others(26): Show HG01167.hp1 HG01243.hp2 HG01975.hp1 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA19004.hp2 NA19043.hp1 NA20300.hp1 NA20300.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0020 a0001c0027 a0003c0016 a0004c0038 a0005c0012 a0006c0046 a0008c0030	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0009t0001 a0001c0020t0001 a0001c0027t0001 a0003c0016t0001 a0004c0038t0001 a0005c0012t0001 a0006c0046t0002 a0008c0030t0005	a0001c0001t0001g0030 a0001c0002t0001g0143 a0001c0002t0001g0242 others(26): Show a0001c0001t0001g0030 a0001c0002t0001g0143 a0001c0002t0001g0242 a0001c0004t0001g0218 a0001c0004t0001g0248 a0001c0005t0001g0118 a0001c0005t0001g0200 a0001c0009t0001g0102 a0001c0009t0001g0103 a0001c0009t0001g0104 a0001c0020t0001g0131 a0001c0020t0001g0261 a0001c0020t0001g0262 a0001c0020t0001g0263 a0001c0027t0001g0133 a0003c0016t0001g0208 a0003c0016t0001g0209 a0003c0016t0001g0210 a0004c0038t0001g0146 a0005c0012t0001g0151 a0005c0012t0001g0152 a0005c0012t0001g0155 a0005c0012t0001g0156 a0005c0012t0001g0157 a0005c0012t0001g0158 a0005c0012t0001g0160 a0006c0046t0002g0093 a0008c0030t0005g0141 a0008c0030t0005g0142	29	312	0.0930	-53	c.10 others(64): Show c.1038_*1090delCCCCAGGGCCCACCATGACCTCCCCCCCAACCCC CAACCCCCCATTCACCGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding		809		chr4	TogoVar
RGSL1_chr1_182445146_182565597	182562676	GTGCAGTA others(46): Show GTGCAGTACCCAGAGCTAGTTACACAGGGGCTCCAGGGAGGTTGTGAGGG AAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02647.hp2 others(4): Show HG01884.hp2 HG02451.hp1 HG02647.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0001 a0004c0012t0001 a0001c0001t0001 a0004c0012t0001	a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 others(4): Show a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0204 a0001c0001t0001g0218 a0004c0012t0001g0222 a0004c0012t0001g0326	7	338	0.0207	-53	c.25 others(64): Show c.2564_*2616delTGCAGTACCCAGAGCTAGTTACACAGGGGCTCCA GGGAGGTTGTGAGGGAAAA	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding		2080		chr1	TogoVar
RHOF_chr12_121772754_121798688	121792101	AGGGGGGC others(46): Show AGGGGGGCTCTGAGCTAGGACAGCCCCTTTTCGGGTCCTCTCCAAGGTCT AGGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01099.hp1 others(61): Show HG00438.hp2 HG00597.hp2 HG01099.hp1 HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG04184.hp2 NA18747.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18982.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19004.hp1 NA19011.hp1 NA19056.hp2 NA19059.hp2 NA19062.hp1 NA19068.hp1 NA19074.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0020 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0002c0002t0010	a0001c0001t0002g0006 a0001c0001t0002g0020 a0001c0001t0002g0021 others(48): Show a0001c0001t0002g0006 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0006g0045 a0001c0001t0006g0164 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0170 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0185 a0001c0001t0006g0189 a0001c0001t0006g0198 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0012g0046 a0001c0001t0012g0162 a0001c0001t0012g0172 a0001c0001t0012g0178 a0001c0001t0012g0192 a0001c0001t0020g0056 a0001c0001t0020g0196 a0001c0001t0020g0197 a0001c0001t0030g0182 a0001c0001t0032g0195 a0001c0001t0033g0171 a0001c0001t0037g0194 a0002c0002t0010g0193	64	386	0.1658	-53	c.226 others(69): Show c.226+998_226+1050delACCTAGACCTTGGAGAGGACCCGAAAAGG GGCTGTCCTAGCTCAGAGCCCCCC	RHOF	ENSG00000139725.8	transcript	ENST00000267205.7	protein_coding	2/4			chr12	TogoVar
RHOXF1_chrX_120104051_120120913	120117647	AGCCACTC others(46): Show AGCCACTCGCTCCATTAATTGACTGCCATCCACTGGGCTAAGTGAGATCC TTGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	-53	c.-18 others(64): Show c.-1838_-1786delGCAAGGATCTCACTTAGCCCAGTGGATGGCAGTC AATTAATGGAGCGAGTGGC	RHOXF1	ENSG00000101883.6	transcript	ENST00000217999.3	protein_coding		1735		chrX	TogoVar
RNF150_chr4_140854807_141138469	140935003	ATATAAAT others(46): Show ATATAAATATATATATATTATATATTTATAATATATATATATAAATATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0167 a0001c0001t0075g0167	1	184	0.0054	-53	c.891 others(70): Show c.891-8983_891-8931delATATATATATTTATATATATATATTATA AATATATAATATATATATATTTATA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	4/6			chr4	TogoVar
RNF212_chr4_1066478_1118564	1070345	CGGGTGGT others(46): Show CGGGTGGTTTTGTAGGGCTGTGCTGTGTCAGCGTGGGTGCCTGGCCTGAG TTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02602.hp1 HG02273.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0211 a0001c0001t0001g0018 a0001c0001t0001g0211	2	406	0.0049	-53	c.24 others(64): Show c.2476_*2528delACAACTCAGGCCAGGCACCCACGCTGACACAGCA CAGCCCTACAAAACCACCC	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding		1132		chr4	TogoVar
RNGTT_chr6_88604897_88968618	88726348	CATTGTGA others(46): Show CATTGTGAGCACACCACATCAGGTCAGAACTATCCTAAGTCCAAAAAAAA AAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp2 HG03098.hp1 others(3): Show HG02559.hp2 HG02965.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0197 a0001c0001t0006g0130 a0001c0001t0006g0194 others(3): Show a0001c0001t0003g0197 a0001c0001t0006g0130 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0196 a0001c0001t0006g0198	6	220	0.0273	-53	c.143 others(74): Show c.1439+43373_1439+43425delTTTTTTTTTTTTGGACTTAGGATA GTTCTGACCTGATGTGGTGTGCTCACAAT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
ROBO2_chr3_77035099_77654964	77290630	GCTGAGGC others(46): Show GCTGAGGCTAGATCACCCAAGACACAAAGTAAAATTGATGGTTAAACGGG TAAT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0156 a0001c0001t0031g0156	1	160	0.0063	-53	c.389 others(74): Show c.389-186766_389-186714delAAGACACAAAGTAAAATTGATGGT TAAACGGGTAATCTGAGGCTAGATCACCC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77292945	CGGTAAGC others(46): Show CGGTAAGCTGAGGCTAGATCACCAAAGACATTAAGTAAAATTGACGGTTA AACG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02109.hp1 HG02109.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0002 a0002c0004t0007 a0001c0003t0002 a0002c0004t0007	a0001c0003t0002g0104 a0002c0004t0007g0116 a0001c0003t0002g0104 a0002c0004t0007g0116	2	160	0.0125	-53	c.389 others(74): Show c.389-184438_389-184386delTAAGTAAAATTGACGGTTAAACGG GTAAGCTGAGGCTAGATCACCAAAGACAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77293075	AAGACATA others(46): Show AAGACATAAAGTAAAATTGGCGGTTAAACGGGTAAGCTGAGGCTAGATCA CCCC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0085 a0001c0002t0017g0085	1	160	0.0063	-53	c.389 others(74): Show c.389-184320_389-184268delGCGGTTAAACGGGTAAGCTGAGGC TAGATCACCCCAGACATAAAGTAAAATTG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	242591	ACCTTCCT others(46): Show ACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGA TTAC	A A	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0005 a0001c0001t0012g0005	1	133	0.0075	-53	c.613 others(70): Show c.613+4467_613+4519delGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGGTAATCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243701	ACCTTCCT others(46): Show ACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGA TTAC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0018 a0007c0014t0018	a0007c0014t0018g0102 a0007c0014t0018g0102	1	133	0.0075	-53	c.613 others(70): Show c.613+3357_613+3409delGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGGTAATCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80825103	CGTGGGGC others(46): Show CGTGGGGCAGCCACATCCCACCTCTCTCTCTAGAGGCCACGTGGCGAGGC CAGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp1 HG02809.hp1 HG03041.hp1	a0001 a0001	a0001c0012 a0001c0066 a0001c0012 a0001c0066	a0001c0012t0003 a0001c0066t0058 a0001c0012t0003 a0001c0066t0058	a0001c0012t0003g0189 a0001c0066t0058g0126 a0001c0012t0003g0189 a0001c0066t0058g0126	2	196	0.0102	-53	c.113 others(72): Show c.1136+1881_1136+1933delGTGGGGCAGCCACATCCCACCTCTCT CTCTAGAGGCCACGTGGCGAGGCCAGT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	9/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80825157	ATGGGGCA others(46): Show ATGGGGCAGCCACATCCCACCTCTCCATCTAGAGGCCGCGTGGCGAGGCC AGCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02970.hp1 HG02055.hp1 HG02970.hp1	a0001 a0001	a0001c0020 a0001c0057 a0001c0020 a0001c0057	a0001c0020t0093 a0001c0057t0077 a0001c0020t0093 a0001c0057t0077	a0001c0020t0093g0034 a0001c0057t0077g0016 a0001c0020t0093g0034 a0001c0057t0077g0016	2	196	0.0102	-53	c.113 others(72): Show c.1136+2013_1136+2065delATCTAGAGGCCGCGTGGCGAGGCCAG CGTGGGGCAGCCACATCCCACCTCTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	9/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864333	TTTCTTCT others(46): Show TTTCTTCTTACAGATTTCCTACAGATGGAAAAGGTGAGAATGATGGCAAG TTTC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0075 a0001c0075	a0001c0075t0012 a0001c0075t0012	a0001c0075t0012g0127 a0001c0075t0012g0127	1	196	0.0051	-53	c.150 others(72): Show c.1509+6438_1509+6490delTCTTACAGATTTCCTACAGATGGAAA AGGTGAGAATGATGGCAAGTTTCTTCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80951116	GGAAGCAT others(46): Show GGAAGCATCCACACGTCCACACCCGGCTGGCCCCAGGGTCCCTGAGACCC CCCA	G G	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0054 a0001c0008t0054	a0001c0008t0054g0169 a0001c0008t0054g0169	1	196	0.0051	-53	c.337 others(72): Show c.3370+1599_3370+1651delCCCCAGGGTCCCTGAGACCCCCCAGA AGCATCCACACGTCCACACCCGGCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	28/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRM1_chr11_4089799_4143932	4143730	ACATATCC others(46): Show ACATATCCTCATACCTGGTATGCAGCTATTGATCTGGCAAATGCTTTTTT CTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0075 a0001c0003t0002g0075	1	368	0.0027	-53	c.53 others(64): Show c.5348_*5400delCATATCCTCATACCTGGTATGCAGCTATTGATCT GGCAAATGCTTTTTTCTCC	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding		4799		chr11	TogoVar
RSBN1_chr1_113756832_113817476	113780028	AAAAAGAA others(46): Show AAAAAGAAATATCAGTCTCCCCCAAACACCTCTCCCAACTATTCCCAGTC TCAG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	340	0.0029	-53	c.137 others(72): Show c.1378-2273_1378-2221delCTGAGACTGGGAATAGTTGGGAGAGG TGTTTGGGGGAGACTGATATTTCTTTT	RSBN1	ENSG00000081019.14	transcript	ENST00000261441.9	protein_coding	2/6			chr1	TogoVar
RTP5_chr2_241864729_241878823	241865183	GTGCGGTA others(46): Show GTGCGGTAATGTGTGGTGTTTCTGTGGTGTGTGTAGTGTGTGTTTGTGGT ATGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0001	1	365	0.0027	-53	c.-45 others(64): Show c.-4573_-4521delTGCGGTAATGTGTGGTGTTTCTGTGGTGTGTGTA GTGTGTGTTTGTGGTATGT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4545		chr2	TogoVar
RTP5_chr2_241864729_241878823	241874845	TTGCAGGG others(46): Show TTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATCCAGGGCCTCGGGGGC CAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0013 a0013c0012t0013	a0013c0012t0013g0013 a0013c0012t0013g0013	1	365	0.0027	-53	c.15 others(64): Show c.1572_*1624delTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATC CAGGGCCTCGGGGGCCAAC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1023		chr2	TogoVar
RUNX1_chr21_34782801_35054302	34849350	GTATATAT others(46): Show GTATATATAATATATTATATATACTATATACATAGTATATATAATATATT ATAC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA20129.hp2 HG03041.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0114 a0001c0001t0005g0138 a0001c0001t0005g0114 a0001c0001t0005g0138	2	170	0.0118	-53	c.613 others(72): Show c.613+10071_613+10123delGTATAATATATTATATATACTATGTA TATAGTATATATAATATATTATATATA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
SARDH_chr9_133658560_133743352	133705318	GAATTACC others(46): Show GAATTACCACCTGCCCCATCTGCCCTCACCCTGAGAACCCCCATCTATAG AATT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02280.hp2 others(10): Show HG01891.hp2 HG02109.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02922.hp1 HG03195.hp1 HG06807.hp2 NA18906.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0033 a0001c0051 others(8): Show a0001c0001 a0001c0033 a0001c0051 a0001c0052 a0001c0064 a0002c0053 a0003c0003 a0003c0009 a0003c0017 a0003c0032 a0003c0054	a0001c0001t0003 a0001c0033t0001 a0001c0033t0004 others(9): Show a0001c0001t0003 a0001c0033t0001 a0001c0033t0004 a0001c0051t0002 a0001c0052t0001 a0001c0064t0008 a0002c0053t0002 a0003c0003t0003 a0003c0009t0001 a0003c0017t0002 a0003c0032t0001 a0003c0054t0001	a0001c0001t0003g0047 a0001c0033t0001g0146 a0001c0033t0004g0029 others(10): Show a0001c0001t0003g0047 a0001c0033t0001g0146 a0001c0033t0004g0029 a0001c0051t0002g0032 a0001c0052t0001g0144 a0001c0064t0008g0055 a0002c0053t0002g0030 a0003c0003t0003g0045 a0003c0003t0003g0048 a0003c0009t0001g0058 a0003c0017t0002g0255 a0003c0032t0001g0156 a0003c0054t0001g0145	13	262	0.0496	-53	c.147 others(70): Show c.1471-340_1471-288delAATTCTATAGATGGGGGTTCTCAGGGTG AGGGCAGATGGGGCAGGTGGTAATT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	11/20			chr9	TogoVar
SBNO2_chr19_1102638_1179268	1137292	GGGGGGAG others(46): Show GGGGGGAGGCTCGGGCCGGGGTGCGGTGGGGGGAGGCTCGGGCCGGGGTG CGGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0104 a0001c0005t0001g0104	1	203	0.0049	-53	c.280 others(70): Show c.280-9580_280-9528delACCGCACCCCGGCCCGAGCCTCCCCCCA CCGCACCCCGGCCCGAGCCTCCCCC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SCGB2A2_chr11_62265158_62278160	62277958	CCACGGTC others(46): Show CCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTACTGCTGCCAT CTCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG01257.hp1 others(11): Show HG00735.hp1 HG01099.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG02257.hp1 HG03710.hp1 HG04184.hp1 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18963.hp2 NA19058.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0057	14	390	0.0359	-53	c.49 others(64): Show c.4964_*5016delCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGA CTGTACTGCTGCCATCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4799		chr11	TogoVar
SEMA3C_chr7_80737538_80924051	80863812	TACATATA others(46): Show TACATATATATGTGATATGTGATATATATATCACATATCACATACATATG TATC	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19068.hp1 NA19057.hp2 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0001 a0001c0013t0002 a0001c0002t0001 a0001c0013t0002	a0001c0002t0001g0202 a0001c0013t0002g0233 a0001c0002t0001g0202 a0001c0013t0002g0233	2	244	0.0082	-53	c.104 others(72): Show c.104-35120_104-35068delGATACATATGTATGTGATATGTGATA TATATATCACATATCACATATATATGT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar

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