Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PSPC1_chr13_19697500_19787945	19780137	GGGGGGAT others(41): Show GGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	256	0.0039	-48	c.372 others(65): Show c.372+2201_372+2248delACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGATCCCCC		PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8						chr13	TogoVar
PTDSS2_chr11_445279_496399	485741	TGCGCAGG others(41): Show TGCGCAGGCGAGCGTAAACAGTGCACGGGCGCGCGTGTGCTCACCGTGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(91): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18951.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18978.hp1 NA18978.hp2 NA18984.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0004 a0001c0001 a0001c0010 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0010t0002 a0003c0004t0001	a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 others(85): Show a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0195 a0001c0001t0002g0297 a0001c0001t0003g0010 a0001c0001t0003g0037 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0115 a0001c0001t0007g0057 a0001c0001t0007g0062 a0001c0001t0007g0064 a0001c0001t0007g0066 a0001c0001t0009g0034 a0001c0001t0009g0058 a0001c0001t0009g0061 a0001c0001t0016g0107 a0001c0001t0017g0060 a0001c0010t0002g0084 a0003c0004t0001g0176	94	273	0.3443	-48	c.436 others(63): Show c.436-989_436-942delACAGTGCACGGGCGCGCGTGTGCTCACCGT GCGCGCAGGCGAGCGTAA		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTGER3_chr1_70965782_71052816	70981356	TTTCTTTC others(41): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	370	0.0027	-48	c.107 others(67): Show c.1078-7016_1078-6969delGGAAGGAAGGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAA		PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	2/3						chr1	TogoVar
PTHLH_chr12_27953084_27977733	27961276	CATATATA others(41): Show CATATATATACGTATATATATATACGTATATATATATATATATATACGT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	2	426	0.0047	-48	c.524 others(65): Show c.524+2024_524+2071delACGTATATATATATATATATATACGTAT ATATATATACGTATATATAT		PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5						chr12	TogoVar
PTP4A2_chr1_31901421_31943368	31908113	AATATATA others(41): Show AATATATATATATATATATATATTATATTATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG02523.hp1 HG02602.hp1 others(11): Show HG00438.hp1 HG02523.hp1 HG02602.hp1 HG03195.hp1 HG03669.hp2 NA18612.hp1 NA18965.hp1 NA18983.hp2 NA18992.hp1 NA18993.hp2 NA19000.hp2 NA19089.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0166 a0001c0001t0001g0202 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0003g0278	14	298	0.0470	-48	c.69 others(57): Show c.691_*738delATATATATATATATATATATAATATAATATATATAT ATATATATATAT		PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6				691		chr1	TogoVar
PTPRD_chr9_8309246_10618002	9286873	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	4	0.2500	-48	c.-20 others(71): Show c.-202-103558_-202-103511delATATATATATATATATATATAT ATATATATATATATATATATATATAT		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	9/45						chr9	TogoVar
PTPRK_chr6_127963785_128525599	128435074	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGCAGGAAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0047 a0001c0007t0001g0047	1	52	0.0192	-48	c.101 others(67): Show c.101-37434_101-37387delGCCTGCCTTCCTGCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT		PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	1/29						chr6	TogoVar
PUDP_chrX_7043920_7153153	7098835	GGGCCAAG others(41): Show GGGCCAAGAGATGCAGGGGAGAGCCGGCCAAGAGATGCAGGGGAGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0085 a0002c0003t0002g0085	1	247	0.0040	-48	c.280 others(65): Show c.280+6737_280+6784delGGCTCTCCCCTGCATCTCTTGGCCGGCT CTCCCCTGCATCTCTTGGCC		PUDP	ENSG00000130021.15	transcript	ENST00000381077.10	protein_coding	2/3						chrX	TogoVar
PXMP2_chr12_132682587_132709985	132693792	AGTTAGCT others(41): Show AGTTAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00735.hp1 others(73): Show HG00438.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18979.hp2 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0002 a0001c0002t0006 a0004c0009t0002 a0001c0002t0002 a0001c0002t0006 a0004c0009t0002	a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0028 others(30): Show a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0036 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0142 a0001c0002t0002g0150 a0001c0002t0006g0002 a0004c0009t0002g0060	76	348	0.2184	-48	c.237 others(65): Show c.237-2091_237-2044delGTTAGCTCCCTTAGCCAGTTAGTTAGTG AGCTCCCTTGCCAGTTAGTT		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4						chr12	TogoVar
PXYLP1_chr3_141226825_141299924	141248562	TATATATA others(41): Show TATATATATACACACATGTATATATACACACACGTGTATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03209.hp1 HG02451.hp2 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0267 a0001c0003t0013g0268 a0001c0003t0013g0267 a0001c0003t0013g0268	2	382	0.0052	-48	c.-53 others(67): Show c.-53-11560_-53-11513delATATATATACACACATGTATATATAC ACACACGTGTATATATACACAC		PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5						chr3	TogoVar
PXYLP1_chr3_141226825_141299924	141248563	ATATATAT others(41): Show ATATATATACACACATGTATATATACACACACGTGTATATATACACACG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02735.hp2 HG03041.hp1 others(5): Show HG00738.hp2 HG02735.hp2 HG03041.hp1 HG03130.hp2 HG03239.hp2 HG03579.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0002c0005t0002	a0001c0001t0002g0035 a0001c0001t0002g0082 a0001c0001t0002g0193 others(5): Show a0001c0001t0002g0035 a0001c0001t0002g0082 a0001c0001t0002g0193 a0001c0001t0002g0353 a0001c0001t0003g0244 a0001c0001t0005g0332 a0001c0001t0019g0327 a0002c0005t0002g0231	8	378	0.0212	-48	c.-53 others(67): Show c.-53-11545_-53-11498delTGTATATATACACACACGTGTATATA TACACACGTATATATACACACA		PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
QNG1_chr9_83933311_83961742	83948416	CGGGAGGG others(41): Show CGGGAGGGAGGTGGGGGGCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG01167.hp2 others(16): Show HG01106.hp1 HG01123.hp2 HG01167.hp2 HG02071.hp2 HG02109.hp2 HG02559.hp2 HG02630.hp1 HG03139.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18964.hp1 NA18965.hp1 NA18975.hp2 NA19006.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007	a0001c0001t0002g0010 a0001c0001t0002g0051 a0001c0001t0002g0053 others(11): Show a0001c0001t0002g0010 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0070 a0001c0001t0002g0082 a0001c0001t0002g0103 a0001c0001t0006g0139 a0001c0001t0007g0030 a0001c0001t0007g0092 a0001c0001t0007g0093 a0001c0001t0007g0094 a0001c0001t0007g0095	19	392	0.0485	-48	c.598 others(65): Show c.598-3475_598-3428delCGACGGGGCGGCTGGCCGGGCGGGGGGG CTGCCCCCCACCTCCCTCCC		QNG1	ENSG00000165118.15	transcript	ENST00000376344.8	protein_coding	2/3						chr9	TogoVar
RAB20_chr13_110518066_110566722	110530171	ACCCCACC others(41): Show ACCCCACCTCTACACAGACACAGGGCCCCGGGGAGGCAGGTCCCACCCG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	422	0.0024	-48	c.173 others(65): Show c.173-6022_173-5975delCGGGTGGGACCTGCCTCCCCGGGGCCCT GTGTCTGTGTAGAGGTGGGG		RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1						chr13	TogoVar
RAB20_chr13_110518066_110566722	110530184	ACAGACAC others(41): Show ACAGACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp2 HG03516.hp1 HG03041.hp1 HG03130.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0004 a0001c0007t0001 a0001c0001t0001 a0001c0003t0004 a0001c0007t0001	a0001c0001t0001g0329 a0001c0003t0004g0052 a0001c0007t0001g0356 a0001c0001t0001g0329 a0001c0003t0004g0052 a0001c0007t0001g0356	3	118	0.0254	-48	c.173 others(65): Show c.173-6035_173-5988delCGTAGAGGTGGGGCGGGTGGGACCTGCC TCCCCGGGGCCCTGTGTCTG		RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1						chr13	TogoVar
RAB20_chr13_110518066_110566722	110530392	GGGGAGGC others(41): Show GGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCTA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0384 a0002c0009t0001g0384	1	424	0.0024	-48	c.173 others(65): Show c.173-6243_173-6196delTAGGGCCCTGTGTCTGCGTAGAGGTGGG GCGGGTGGGACCTGCCTCCC		RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1						chr13	TogoVar
RAB20_chr13_110518066_110566722	110530399	CAGGTCCC others(41): Show CAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCTAGGGAAGT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	424	0.0024	-48	c.173 others(65): Show c.173-6250_173-6203delACTTCCCTAGGGCCCTGTGTCTGCGTAG AGGTGGGGCGGGTGGGACCT		RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1						chr13	TogoVar
RAB44_chr6_36692826_36738184	36734313	CAGAGAGA others(41): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02071.hp2 HG02300.hp1 others(6): Show HG01192.hp1 HG02071.hp2 HG02300.hp1 HG04184.hp1 NA18972.hp2 NA18992.hp2 NA19055.hp1 NA19083.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0010 a0001c0002t0003g0048 a0001c0002t0003g0052 others(6): Show a0001c0002t0003g0010 a0001c0002t0003g0048 a0001c0002t0003g0052 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0301 a0001c0002t0003g0309 a0001c0002t0003g0326 a0001c0002t0003g0328	9	165	0.0545	-48	c.22 others(59): Show c.2221_*2268delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAG		RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding					1130		chr6	TogoVar
RABGAP1L_chr1_174154520_175000308	174327956	AATATATA others(41): Show AATATATATATATATATATATATACACACACATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0163 a0001c0002t0003g0163	1	249	0.0040	-48	c.146 others(69): Show c.1465+22851_1465+22898delTACACACACATATATATATATATA TATATATATATATATATATATATA		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RAD9B_chr12_110497331_110538556	110507470	TATATGTA others(41): Show TATATGTATTAAATATAATACATAATATATGTATTAAATATAATACATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG00738.hp1 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0017 a0001c0001t0008g0017	2	282	0.0071	-48	c.388 others(63): Show c.388+782_388+829delGTATTAAATATAATACATAATATATGTATT AAATATAATACATAATAT		RAD9B	ENSG00000151164.19	transcript	ENST00000409300.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
RALGDS_chr9_133092722_133126240	133105848	AGCCCCCG others(41): Show AGCCCCCGCCCCAGCCCCAGCCCCCGCCCCAGCCCCCGCCCCAGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(105): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02970.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18941.hp2 NA18944.hp1 NA18948.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18984.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp2 NA19081.hp1 NA19084.hp1 NA19089.hp1 NA19090.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0012 a0001c0014 a0001c0017 a0001c0018 a0008c0019	a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0002 a0001c0012t0001 a0001c0014t0001 a0001c0017t0001 a0001c0018t0001 a0008c0019t0001	a0001c0001t0001g0044 a0001c0001t0001g0158 a0001c0001t0001g0159 others(53): Show a0001c0001t0001g0044 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0207 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0087 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0179 a0001c0006t0002g0157 a0001c0007t0001g0166 a0001c0007t0001g0175 a0001c0007t0002g0006 a0001c0007t0002g0037 a0001c0007t0002g0038 a0001c0007t0002g0115 a0001c0007t0002g0169 a0001c0007t0002g0172 a0001c0007t0002g0178 a0001c0012t0001g0109 a0001c0012t0001g0170 a0001c0014t0001g0246 a0001c0017t0001g0045 a0001c0018t0001g0161 a0008c0019t0001g0173	108	348	0.3103	-48	c.160 others(63): Show c.1602+36_1602+83delGGGGGCTGGGGCGGGGGCTGGGGCGGGGGC TGGGGCTGGGGCGGGGGC		RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding	9/17						chr9	TogoVar
RANBP10_chr16_67718070_67811560	67737144	TGTTTTTT others(41): Show TGTTTTTTTTTTTTTTTGAACTAAGCAAGCAGAAAACTCCATCCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	150	0.0067	-48	c.591 others(63): Show c.591+821_591+868delGAAAAGGATGGAGTTTTCTGCTTGCTTAGT TCAAAAAAAAAAAAAAAC		RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	5/13						chr16	TogoVar
RASA3_chr13_113972783_114137623	114044024	CGCCCCGC others(41): Show CGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01433.hp2 HG01167.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0046 a0001c0001t0006g0013 a0001c0001t0001g0046 a0001c0001t0006g0013	2	63	0.0317	-48	c.278 others(65): Show c.278-2978_278-2931delAGCTCAGCGAGTGAGGCGGGGGGGGGAG CTCAGCGAGTGAGGCGGGGC		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114099866	GCAGCCCC others(41): Show GCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCGTAGCCCCCACCCCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	65	0.0154	-48	c.56- others(65): Show c.56-26077_56-26030delTGGGGTGGGGGCTACGGGGGGCTGCTGT GGGGGGCTGTGGGGGGGCTG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114117725	TGTGTGTG others(41): Show TGTGTGTGAGGAGAGCACGTGTGTGAGGGATGCACGTGTGTGAGAGCAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	65	0.0154	-48	c.55+ others(65): Show c.55+14662_55+14709delGTGCTCTCACACACGTGCATCCCTCACA CACGTGCTCTCCTCACACAC		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASGRF1_chr15_78954906_79095780	79059964	TCACACAC others(41): Show TCACACACACACACACACAGACACACAGACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	163	0.0061	-48	c.384 others(65): Show c.384-1531_384-1484delTGTGTGTGTGTGTGTGTGTGTCTGTGTG TCTGTGTGTGTGTGTGTGTG		RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	2/26						chr15	TogoVar
RASGRP4_chr19_38404058_38431219	38417836	CCAGAGGA others(41): Show CCAGAGGAAGGGCGTGGTCTGCGTGGAAATACGCAAGGGGGCGCGGCCA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0082 a0001c0003t0002g0082	1	408	0.0025	-48	c.837 others(63): Show c.837+507_837+554delTGGCCGCGCCCCCTTGCGTATTTCCACGCA GACCACGCCCTTCCTCTG		RASGRP4	ENSG00000171777.17	transcript	ENST00000615439.5	protein_coding	7/16						chr19	TogoVar
RBBP5_chr1_205081142_205126978	205093477	AAAATATA others(41): Show AAAATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0159 a0001c0001t0016g0159	1	387	0.0026	-48	c.158 others(67): Show c.1588+1348_1588+1395delATATATATATATATATATATATATAT ATATATATATATATATATATTT		RBBP5	ENSG00000117222.14	transcript	ENST00000264515.11	protein_coding	13/13						chr1	TogoVar
RBBP5_chr1_205081142_205126978	205093491	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02258.hp2 HG02280.hp1 others(5): Show HG01993.hp1 HG02258.hp2 HG02280.hp1 HG02723.hp2 HG02965.hp1 HG02970.hp1 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0034 a0001c0001t0005 a0001c0001t0034	a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0156 others(2): Show a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0034g0033	8	300	0.0267	-48	c.158 others(67): Show c.1588+1334_1588+1381delGTGTGTATATATATATATATATATAT ATATATATATATATATATATAT		RBBP5	ENSG00000117222.14	transcript	ENST00000264515.11	protein_coding	13/13						chr1	TogoVar
RBBP9_chr20_18481540_18502225	18486157	AATATATA others(41): Show AATATATATATATGTAAATATAAATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03209.hp1 HG03139.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0025 a0001c0001t0019g0025	2	172	0.0116	-48	c.35 others(59): Show c.3559_*3606delATATATATATATATATATATATATATTTATATTT ACATATATATATAT		RBBP9	ENSG00000089050.16	transcript	ENST00000337227.9	protein_coding					382		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6487688	AAAAAAAA others(41): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG01261.hp1 others(2): Show HG00280.hp2 HG00609.hp1 HG01261.hp1 HG02148.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0020 a0001c0001t0035 others(1): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0035 a0001c0004t0001	a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0020g0002 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0020g0002 a0001c0001t0035g0065 a0001c0004t0001g0060	5	63	0.0794	-48	c.-63 others(69): Show c.-63-166913_-63-166866delAAAAAAAAAAAATATATATATATA TATATATATATATATATATATATA		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7009024	TCCTCCCT others(41): Show TCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0065 a0001c0001t0035g0065	1	64	0.0156	-48	c.-15 others(67): Show c.-15-43021_-15-42974delTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCT		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504739	ATATATAT others(41): Show ATATATATATATATATTTATATATATATATATTTATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18983.hp2 HG04199.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0174 a0001c0001t0007g0130 a0001c0001t0005g0174 a0001c0001t0007g0130	2	197	0.0102	-48	c.88- others(65): Show c.88-13376_88-13329delTTATATATATATATATTTATATATATAT ATATTTATATATATATATAT		RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RBL1_chr20_36991349_37100997	37000368	GGGGGGGT others(41): Show GGGGGGGTTAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01952.hp1 HG01109.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0289 a0001c0001t0002g0267 a0001c0001t0002g0289	2	352	0.0057	-48	c.303 others(67): Show c.3037-1487_3037-1440delACCTCCCTCCTGGATGGGGCGGCTGG CCGGGCGGGGGGCTAACCCCCC		RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21						chr20	TogoVar
RBM19_chr12_113817057_113971325	113872521	GGGGGTGT others(41): Show GGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	354	0.0028	-48	c.255 others(69): Show c.2559-13673_2559-13626delACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACACCCC		RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23						chr12	TogoVar
RBMS3_chr3_29276071_30015386	29928757	CCATAACA others(41): Show CCATAACATATTTGAACCAGGCTACTGGTCACTTGCTCCTCTCTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00673.hp1 others(32): Show HG00099.hp1 HG00140.hp2 HG00673.hp1 HG00673.hp2 HG01261.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01993.hp1 HG02040.hp2 HG02083.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02698.hp1 HG02698.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03710.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18944.hp1 NA18957.hp1 NA19009.hp1 NA19009.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0049 a0001c0001t0052 a0001c0001t0058 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0066 a0001c0001t0069 a0001c0001t0073 a0001c0001t0080 a0001c0001t0082 a0001c0002t0001 a0001c0002t0039 a0001c0002t0047 a0001c0002t0086 a0001c0004t0059	a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0002g0028 others(32): Show a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0002g0028 a0001c0001t0002g0048 a0001c0001t0005g0003 a0001c0001t0005g0008 a0001c0001t0008g0082 a0001c0001t0011g0033 a0001c0001t0013g0020 a0001c0001t0014g0077 a0001c0001t0016g0075 a0001c0001t0019g0054 a0001c0001t0019g0055 a0001c0001t0020g0112 a0001c0001t0021g0032 a0001c0001t0040g0102 a0001c0001t0042g0095 a0001c0001t0044g0061 a0001c0001t0049g0007 a0001c0001t0052g0022 a0001c0001t0058g0021 a0001c0001t0060g0013 a0001c0001t0062g0086 a0001c0001t0063g0068 a0001c0001t0066g0098 a0001c0001t0069g0001 a0001c0001t0073g0069 a0001c0001t0080g0031 a0001c0001t0082g0030 a0001c0002t0001g0015 a0001c0002t0001g0043 a0001c0002t0039g0091 a0001c0002t0047g0036 a0001c0002t0086g0067 a0001c0004t0059g0026	35	114	0.3070	-48	c.940 others(65): Show c.940-7281_940-7234delTCATAACATATTTGAACCAGGCTACTGG TCACTTGCTCCTCTCTTCTC		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RC3H2_chr9_122839556_122910359	122867893	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03831.hp2 HG02056.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0208 a0001c0001t0003g0204 a0001c0001t0003g0208	2	318	0.0063	-48	c.132 others(67): Show c.1326-2284_1326-2237delACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGCTGACCCCCC		RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20						chr9	TogoVar
RCOR1_chr14_102587649_102735561	102633616	AGCAACTT others(41): Show AGCAACTTCTGCCTCCCGCATTGAAGCGATTCTCCTGTCTCAGCCTTCT	A A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	290	0.0034	-48	c.361 others(67): Show c.361+40292_361+40339delGCAACTTCTGCCTCCCGCATTGAAGC GATTCTCCTGTCTCAGCCTTCT		RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11						chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676659	GGGGCGGC others(41): Show GGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02965.hp1 HG03209.hp1 others(1): Show HG00733.hp1 HG02965.hp1 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0017 a0001c0001t0013 a0001c0001t0017	a0001c0001t0013g0291 a0001c0001t0013g0292 a0001c0001t0017g0156 others(1): Show a0001c0001t0013g0291 a0001c0001t0013g0292 a0001c0001t0017g0156 a0001c0001t0017g0157	4	290	0.0138	-48	c.362 others(65): Show c.362-5224_362-5177delTGGGCGGGGGGCTGACCCCCCACCTCCC TCCCGGACTGGGCGGCTGGC		RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
RELCH_chr18_62182255_62315249	62309163	GGGAGTGG others(41): Show GGGAGTGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCTAGCCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0167 a0001c0001t0025g0167	1	338	0.0030	-48	c.36 others(59): Show c.3632_*3679delAGTGGAGGTTGCAGTGAGCCAAGATCGTGCCACT GCACTCTAGCCTGG		RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	29/29				3632	INFO_REALIGN_3_PRIME	chr18	TogoVar
RELL1_chr4_37605634_37691376	37669006	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG01071.hp2 others(29): Show HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp2 NA18522.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0047 a0001c0001t0053 a0001c0001t0062 a0001c0006t0023	a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0023 others(28): Show a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0070 a0001c0001t0001g0248 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0069 a0001c0001t0002g0257 a0001c0001t0004g0074 a0001c0001t0010g0035 a0001c0001t0011g0053 a0001c0001t0011g0075 a0001c0001t0011g0076 a0001c0001t0016g0002 a0001c0001t0016g0026 a0001c0001t0018g0019 a0001c0001t0018g0020 a0001c0001t0018g0028 a0001c0001t0025g0013 a0001c0001t0047g0014 a0001c0001t0053g0051 a0001c0001t0062g0077 a0001c0006t0023g0024	32	322	0.0994	-48	c.88+ others(65): Show c.88+17146_88+17193delACCTCCCTCCCGGACGGGGCGGCTGGCC AGGCGGGGGGCTGACCCCCC		RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6						chr4	TogoVar
RELL1_chr4_37605634_37691376	37669186	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	322	0.0031	-48	c.88+ others(65): Show c.88+16966_88+17013delACCTCCCTCCCGGACGGGGCGGCTGGCC AGGCAGGGGGCTGACCCCCC		RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6						chr4	TogoVar
REM1_chr20_31470288_31489895	31471316	CCCCCCCC others(41): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01123.hp1 HG01192.hp2 others(13): Show HG00323.hp2 HG01123.hp1 HG01192.hp2 HG01257.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG02074.hp1 HG02300.hp2 HG02523.hp1 HG03139.hp2 HG04199.hp2 NA18942.hp2 NA18961.hp2 NA18964.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0002c0002t0001g0006 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034	16	342	0.0468	-48	c.-42 others(59): Show c.-4269_-4222delCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGCTGA		REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding					3971		chr20	TogoVar
REST_chr4_56902900_56940844	56931051	GGAGCTGT others(41): Show GGAGCTGTCTCCTCCCATGGAGGTGGTCCAGAAGGAGCCTGTTCAGATA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(29): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00735.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp2 HG01884.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02717.hp2 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA18957.hp2 NA18972.hp1 NA18977.hp1 NA18987.hp1 NA18989.hp2 NA18994.hp1 NA19007.hp1 NA19057.hp1 NA19081.hp2	a0004 a0004	a0004c0004 a0004c0007 a0004c0004 a0004c0007	a0004c0004t0005 a0004c0004t0009 a0004c0004t0025 others(2): Show a0004c0004t0005 a0004c0004t0009 a0004c0004t0025 a0004c0004t0026 a0004c0007t0009	a0004c0004t0005g0022 a0004c0004t0005g0041 a0004c0004t0005g0042 others(19): Show a0004c0004t0005g0022 a0004c0004t0005g0041 a0004c0004t0005g0042 a0004c0004t0005g0043 a0004c0004t0005g0044 a0004c0004t0005g0165 a0004c0004t0005g0190 a0004c0004t0005g0194 a0004c0004t0005g0195 a0004c0004t0005g0196 a0004c0004t0005g0197 a0004c0004t0005g0199 a0004c0004t0005g0200 a0004c0004t0005g0201 a0004c0004t0005g0202 a0004c0004t0005g0203 a0004c0004t0009g0009 a0004c0004t0009g0192 a0004c0004t0025g0198 a0004c0004t0026g0193 a0004c0007t0009g0040 a0004c0007t0009g0191	32	406	0.0788	-48	c.222 others(57): Show c.2229_2276delGCCTGTTCAGATAGAGCTGTCTCCTCCCATGGAGGT GGTCCAGAAGGA	p.Pro others(13): Show p.Pro744_Glu759del	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding	4/4	2552/7309	2229/3294	743/1097		INFO_REALIGN_3_PRIME	chr4	TogoVar
REV3L_chr6_111294033_111488218	111303671	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTAACAGACTATGACTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG01070.hp2 others(19): Show HG00544.hp1 HG00558.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01167.hp2 HG01261.hp1 HG02080.hp2 HG02135.hp1 HG02155.hp2 HG02630.hp2 HG03669.hp1 HG03927.hp2 HG03942.hp2 NA18939.hp2 NA18962.hp1 NA18966.hp2 NA18974.hp1 NA18983.hp2 NA18999.hp1 NA19009.hp1 NA20129.hp2	a0002 a0007 a0018 a0002 a0007 a0018	a0002c0002 a0002c0015 a0007c0016 others(1): Show a0002c0002 a0002c0015 a0007c0016 a0018c0030	a0002c0002t0001 a0002c0015t0001 a0007c0016t0008 others(1): Show a0002c0002t0001 a0002c0015t0001 a0007c0016t0008 a0018c0030t0001	a0002c0002t0001g0159 a0002c0002t0001g0167 a0002c0002t0001g0175 others(19): Show a0002c0002t0001g0159 a0002c0002t0001g0167 a0002c0002t0001g0175 a0002c0002t0001g0182 a0002c0002t0001g0189 a0002c0002t0001g0195 a0002c0002t0001g0200 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0228 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0015t0001g0215 a0002c0015t0001g0217 a0007c0016t0008g0124 a0018c0030t0001g0226	22	165	0.1333	-48	c.925 others(67): Show c.9253-3563_9253-3516delAAAAAAAAAAAAAAAAAAGTCATAGT CTGTTAAAAAAAAAAAAAAAAA		REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31						chr6	TogoVar
RFTN1_chr3_16310845_16518699	16403965	ATATATTA others(41): Show ATATATTATATTTTATATATAATATATAATATATATTTTATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	262	0.0038	-48	c.441 others(65): Show c.441+5362_441+5409delATATATATATAAAATATATATTATATAT TATATATAAAATATAATATA		RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9						chr3	TogoVar
RFTN1_chr3_16310845_16518699	16517390	CCTGTGGC others(41): Show CCTGTGGCTGAGATGGAATTTGTTCTCTGGAGCAAAGAGCCACTGGAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0242 a0003c0007t0002g0242	1	266	0.0038	-48	c.-40 others(59): Show c.-4005_-3958delTCTCCAGTGGCTCTTTGCTCCAGAGAACAAATTC CATCTCAGCCACAG		RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding					3692		chr3	TogoVar
RFX3_chr9_3213297_3531001	3504134	TATATTAT others(41): Show TATATTATATATTATACATATTATATATTATATATATTATATATTATAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp1 HG02723.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0037 a0001c0001t0017g0038 a0001c0001t0017g0037 a0001c0001t0017g0038	2	193	0.0104	-48	c.-9+ others(65): Show c.-9+21565_-9+21612delGTATAATATATAATATATATAATATATA ATATGTATAATATATAATAT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RGN_chrX_47073443_47098313	47074220	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	258	0.0039	-48	c.-51 others(59): Show c.-5124_-5077delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGGAAGGAAGG		RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding					4222		chrX	TogoVar
RGN_chrX_47073443_47098313	47074224	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0191 a0003c0003t0001g0191	1	295	0.0034	-48	c.-51 others(59): Show c.-5120_-5073delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GGAAGGAAGGAAGG		RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding					4218		chrX	TogoVar
RGN_chrX_47073443_47098313	47074232	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	298	0.0034	-48	c.-51 others(59): Show c.-5112_-5065delAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAA GGAAGGAAGGAAGG		RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding					4210		chrX	TogoVar

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